Another Cross

Mariana had a wonderful summer. She was full of energy, and really
seemed to be moving in a positive direction. As always, she is a
great source of joy to us. She has begun K4 with her sister. She is
able to participate in a normal K4 classroom AND receive therapy as
part of her day.

A few weeks ago Ann Marie was diagnosed with colon cancer. She had a
16cm section of the colon removed, and yesterday began chemotherapy.
Please pray for now two loved ones that are in harm's way.

We bring our faith with us, trusting in God's mercy and love.

Ed and Ann Marie

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Make a Wish Highlight

Mariana (left) and her twin sister, Kristyna, enjoy an Aspen Music Festival Rehearsal--ON STAGE!

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Make a Wish Took us to the Top of the World!

This past Sunday we returned from our much anticipated Make a Wish Trip to Colorado. The trip was a very blessed time for our family and there was no shortage of smiles and laughter from Mariana. The representatives from the Make a Wish Foundation first visited us in December. Each one of the children (and their parents) were interviewed privately to get an indication of just what might be appropriate and of interest to Mariana. Mariana's love of horses provided the spring board for a trip out west to Colorado. A visit to a working shire horse farm started our action packed week. The week also included a high adventure jeep ride, western-themed amusement park (Glenwood Caverns) Aspen Music Festival Concert (Mendelssohn's, "A Midsummer Night's Dream") and tour, swimming, hiking, and even an unplanned tour of a facility that cares for 241 sled dogs. There is much to share and many thank you's to extend. The trip was a wonderful success. More later. For now, here's a photo taken of Mariana and her twin sister on the stage at the Aspen Music Festival.

Thank you everyone for your continued thoughts and prayers,

Ann Marie & Ed

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Uncertainties

Mariana has had quite a few difficult days in the past few weeks, more than we're accustomed to. Today was particularly hard for her. We're wondering if its the medication she has switched to, the progression of the disease, or even her body trying to fend off some illness. Mariana was unusually tired, irritable/inconsolable today and into the evening, in spite of having had a lengthy nap this afternoon.

Mariana did have some low numbers in a blood test a few weeks back. A follow up check revealed that the numbers had returned to normal.

The Make a Wish foundation is planning a trip to Colorado for our family this summer. We are still working out some of the details.

Thank you for continuing to keep Mariana in your prayers. It is very hard not to know what's happening. There are so many variables at play here.

Ann Marie & Ed

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The Birmingham Zoo

Mariana got some outdoor exercise on a warm December day in Alabama

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Annual Neuro Psych Evals/What's Gaucher's Disease?

Mariana is adjusting well to the new infusion medication. We were concerned a few weeks back about a rise in her inability to balance. While its impossible to really tell what was causing this, the recent increase in the dosage of her infusion meds seems to have made a difference. If all goes well, Mariana will be having her last infusion at Children's Hospital today. God willing, we will return to home infusions in two weeks: a welcomed development that will do much to simplify our routine.

Yesterday afternoon, we completed a comprehensive round of neuro psych analysis. The physician was very positive about Mariana's progress over the last year. We were gratified to learn that Mariana fits right into the average development for a child of her age. We will continue to work with Mariana's fine and gross motor skill development, the only area that really seems to be lagging behind.

We are aware that many are relatively new to "Ed's Blog." It has been a while since we explained Mariana's condition. She is afflicted with "Gaucher's (gowshayz) Disease." Here is a link to a website that explains her condition in detail (she has been diagnosed with a "2/3" type of the disease):

http://www.gaucherpartners.com/what-is-gaucher.aspx

Mariana was approved for the Make a Wish Foundation. Two representatives visited us recently and "interviewed" Mariana and each member of our family. It would seem that they are putting together a wish involving horses and trains! We'll see!

We have been discussing the possibility of taking Mariana to Lourdes, France. There are many obstacles for us to overcome--something to pray about.

http://fr.lourdes-france.org/

Please continue to pray for Mariana. There is no cure for the disease. Your prayers are of vital, meaningful importance to us all.

God bless you!

Ann Marie & Ed

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Mariana and the Prayer Warriors at Columbus Middle School in Marshfield...

God bless you!

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Neuro Psych Evaluations Beginning

Since our last entry, Mariana has begun infusions with her new medication. She has returned to Children's Hospital, where she is closely observed during this transition. The nurses that had seen her when all this began, are delighted to see her again. Recently, Mariana was accompanied by her twin sister, which was an extra treat for her and the staff. Mariana is scheduled for infusions at Children's for the next few weeks.

Mariana will begin a series of neuro psych evaluations in January. We met with her neuropsychologist in an introductory session a few days ago. It was encouraging to see the progress she has made in communication since she had her last evaluation. Her vocabulary is vast, and she has made great strides in communicating. Her gross and fine motor skills will also undergo an evaluation. We conveyed our concerns over the apparent rise in her inability to balance. Her face shows the signs of many collisions with the floor and furniture. In spite of this, Mariana prefers to get around the house without the aid of walker or cane. She is a courageous and determined young lady, and a real inspiration to us.

Mariana really thrives on the presence of her siblings at home for Christmas break. Play has been very active, and healthy for us all!

On December 17th, Mariana and her Dad accompanied a family friend to visit Columbus Middle School in Marshfield, where a large community of students and faculty have been praying ardently for Mariana. The visit was very touching. The school applauded Mariana when she entered the gym, and the band played Christmas songs for her, even asking her for requests! Mariana was able to accompany the band on a drum. Best of all, the school Mass was offered for her (thank you Father!). A number of the young ladies at the school became fast friends! Ed was very grateful to have been given the opportunity to personally thank the student body and faculty for "adopting" Mariana. Thank you Columbus MS!!

Hope you have been having a most blessed Christmas and New Year. Thank you for continuing to keep our little one in your thoughts and prayers.

-Ed & Ann Marie

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Thank you Columbus Catholic Middle School!!

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Annual Check

SInce the last entry, Mariana has had a comprehensive series of tests, aimed at determining any possible progression over the last year.

Mariana was a trooper as she endured a full body scan MRI. She really struggled coming out of the sedation, even a day or two later. The results were not definitive. There appeared to be some additional fluid on the brain, which may or may not be related to the disease. Her liver was somewhat enlarged. The doctor couldn't say for certain whether this was due to the advance of the disease, or simply because she had grown in the last year.

The results of her blood tests were all very good. Her twice monthly enzyme therapy treatments appear to be doing a decent job in this department.

This review of Mariana's condition, while not entirely grim, did prove to serve as a troubling reality check for her parents. The doctor made a point of explaining the realities of this disease, and wanted to make sure we "made plans." As you can imagine, this really set us back. He recommended that we make contact with counsellors and the Make a Wish Foundation. While we are well aware that "God is in charge," there are times when this cross is especially hard to bear.

As the weather gets colder, Mariana has fewer opportunities to get exercise out of doors. We are becoming concerned about the recent rise in Mariana's tendency to lose her balance. It's difficult to see her falling and hurting herself so often throughout the day (we may find ourselves reintroducing the walker to inside use).

We were disappointed to learn that our insurance company would not be covering Mariana's hippotherapy (therapeutic riding with an occupational therapist working with her). Mariana looks forward to this day more than any other. Her parents see it as an opportunity to make up for some of the things she is physically unable to do. The effect these therapies has had on Mariana was tangible within a few sessions. It really helped to build her confidence, and vastly improved her balance.

THE GOOD NEWS: by the grace of God, we have found someone that is willing to sponsor her treatments! Mariana will only have missed a few sessions, and will be back to her regular appointed day and time! THANK YOU! THANK YOU! GOD REWARD YOU!

We also want to offer heartfelt thanks to Bryan and the students at Columbus Catholic Middle School in Marshfield. We received a beautiful letter along with a card and some "pj's" for Mariana. 120 students at Columbus Middle School are praying for Mariana each day. Your thoughtfulness has touched our family deeply. Thanks for "keeping Mariana in your hearts." (Enjoy the picture!)

Thank you to all who have been with us along the way, helping us to stay the course.

We were interviewed by the Make a Wish Foundation today. It made us reflect on the great gift that Mariana is to us and our family.


God bless,

Ann Marie & Ed

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The New Walker!!

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What's Been Goin' On?

First off, sorry for the LONG delay in entries. Ed's hard drive took a dive, and access to this blog went with it.

Mariana did FINALLY get her new walker. She loves it, and uses it frequently, especially outdoors. Unfortunately, she "drives" like a three-year-old. In a public place, she's all over the map. Her three-year old attention span doesn't allow her to look straight ahead, where she's supposed to be going. Instead, she goes in whatever direction holds her attention at a given moment. Pedestrians beware! Mom and Dad have to lean over, guiding her way.

Mariana's enthusiasm for the walker has meant a great deal of exercise for her legs. The result has been that she CHOOSES to walk around the house (without the walker) much more than she ever has. She still falls, but this doesn't seem to discourage her. She just gets right back up. Her confidence has definitely improved.

Mariana continues to have her twice monthly infusions of Cerezyme (enzyme replacement therapy). This is a vital component in her treatment. The company that produces this drug, up until very recently the ONLY company, has had some major issues. There was a contamination in their supply last summer. A few months ago they warned us of a pending shortage due to a "power outage in their plant." Up until now, Mariana has never missed her treatment. We received a Fed Ex a few weeks ago stating that the company would not be able to provide the medication for her this week. Mariana often seems to become weaker as she approaches her next treatment. It may be three weeks before Cerezyme is able to come forward with the much needed medication.

On the positive side, the attending physician has assured us that there really should be no damaging effects from missing the treatment. We are praying that Mariana stays strong, as if she had been given the infusion on schedule.

This past Thursday, Mariana attended her first therapeutic equestrian session at Avalon. Ed and a few of his musician friends have performed for their Fall fund raising effort for many years. Little did we know that we would have a child of our own that could benefit from the work that is done there. Mariana was a VERY good sport as they worked with her balance issues on the back of their horse, "Rex."

Special thanks to all of you that continue to pray for Mariana as the weeks and months go by. She continues to be very happy, and likes to tell us that she is!

Thanks again to Maire O'Keefe and the "4th Class" in Kinvara for their unbelievable fundraising efforts. We are VERY grateful for your role in helping us to acquire Mariana's walker.

God bless you!

Ann Marie & Ed

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Spring Forward

Mariana's new walker has yet to arrive, however, the old one is proving quite adequate for Mariana's outdoor play (it's rather bulky and unwieldy for indoors). The beautiful Spring we've been having has accorded her many opportunities to run around outside. She feels a part of the fun when her siblings tool around on bikes and trikes and she has her walker. The outdoors really seem to energize her. She is rarely more excited and happy then when she is outside.

Due, at least in part, to all the exercise Mariana has been getting, we have seen some amazing things. In the past, the most we ever saw her walk on her own has been 10 steps. Over the weekend, Ed walked into her room and found that she was walking across the floor towards the door without the aid of the walker--she continued on into the kitchen, walking completely around the island before she was unable to continue. We are definitely getting an appreciation for how much underdeveloped muscle tone has played in her inability to walk, in spite of her persistent balance issues. We can't help but be encouraged by her progress these past few months.


Please keep praying. We know it is helping her!

God bless!

-Ann Marie and Ed

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X Rays, Eye Exam, One Year later

In sharp contrast to last year, Mariana did extremely well with this week's follow ups. Because she (and we) had experienced these procedures last year, we were successful in preparing Mariana for them. She said "cheese" and looked at a book during her x rays. The x rays were probably the most difficult for her last year--she had to have her arms weighted down and her head immobilized with foam. This time, she reclined calmly on the table, no need for restraints of any kind. Ed merely held her in proper position when the x rays were taken.

Most remarkably, she came out of her eye exam saying, "we had fun!!" The attending physician deserves a lot of credit for making the whole examination a lively game. Mariana has 20/20 vision. There has been no perceivable advancement of the disease in her eyes. We were told it wouldn't be necessary to come in for the next two years.

We will be waiting for the results of her x rays.

At days end, Mariana said again, that she had fun!

..more answers to prayers

Thanks for checking in!

-Ann Marie & Ed

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Geneticist Evaluation, 9 Months Later

Today, the chief physician in charge of Mariana's case evaluated her condition for the first time in 9 months. He has an international reputation in the field of genetics and genetic diseases. [He was recently associated with an important breakthrough in the diagnosis of a disease in a young boy. By sequencing a portion of each gene in the approximately 23,000 genes in the human genome, he, and a group of researchers, were able to reach a successful conclusion in a case that eluded conventional methods of diagnosis]. We feel very fortunate to have such an amazingly gifted and talented physician heading our team.

All this having been said, Ed has come to anticipate the doctor's appearance with a bit of anxiety. On several occasions, he peeked in to check up on Mariana during one of her enzyme treatments at the hospital and said something upsetting, even if he only stopped by for two minutes.

This afternoon, he prefaced his remarks with a, well, "remarkable" admission, "I am, by nature, a pessimist." An awkward laugh from Mom and Dad (and the nurse!) ensued...

This having been said, we were beside ourselves when he indicated his absolute shock at how well Mariana is doing. He reviewed the data on her progress over the past nine months and said she is doing amazingly well, better than he ever expected. We have never seen him display such a level of enthusiasm and confidence with regard to Mariana's condition. One of the highlights occurred when, during a physical exam, he was unable to locate Mariana's spleen and liver. This means that the enzyme replacement therapy must be really working well. We had every reason to place a great deal of confidence in his evaluation, especially considering his pessimistic nature!

He also spoke more about a drug that is under review that has been able to bridge the gap into the neurological dimension of the disease--something to pray for. The drug Mariana is taking now has had only limited efficacy. This new drug seems to show greater promise, although it is still very much in the preliminary stages of experimentation and development.

Within the not so distant future, Mariana will be switched to a different enzyme replacement drug. A new therapy, that has already had many years of success in Europe, has recently been approved in the US. The therapy will take less time to administer, and will not be subject to the frightening shortages that her current therapy has demonstrated. The hospital treating Mariana has had to put up a fight whenever they put in an order for her enzyme therapy. A contamination of their product last fall has derailed their production, and they have yet to catch up.

Next week, Mariana will have her first eye exam in one year. Not a lot of concerns here, although the physicians will always be on the look out for further progression. She will also have x rays taken of some of her bones. This was particularly traumatic for Mariana when it was done last year. We have begun to strategize about how we might make this experience less of an ordeal for her.

Within the next six months, Mariana will have another swallow study, and an MRI of her head and her abdomen. These were also difficult procedures for Mariana when they were done about a year ago.

(Last week, Mariana had a pulmonary evaluation. The attending physician didn't detect any progression).

We are anticipating the arrival of a new, custom-made walker for Mariana. It is our hope that between the new walker and a brace that she will be wearing, we can get her up on her feet. To date, crawling is her primary mode of transportation. Mariana will be three in June.

Many thanks to the "4th Class" in Kinvara, County Galway for their sponsorship of Mariana's walker. Last December, they gathered their musical instruments, made signs, and played Christmas music in Kinvara to raise money for Mariana. Incredibly, the check bearing the money they raised arrived right on Saint Patrick's Day!! We were looking for the rainbow!! Thank you so much you guys! (Their teacher, Maire, is a fiddle player and old friend of Ed's. She played at our wedding, and we've stayed in touch over the years).

So, Mariana seems to be doing well by her doctor's admission too! Please continue to pray for her and our family. We know that your prayers are behind her steady progress.

May God bless you for all your thoughts, concerns, and prayers!

-Ann Marie and Ed

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Scratch & Dent Furniture

First off, apologies to anyone unable to log on in recent weeks. The site was, in fact, unaccessible due to some kind of coding error. Thanks, Barry, for getting us back up again.

We continue to seek direction with Mariana's walking. The cane referred to in the previous entry didn't seem to yield the results we had been hoping for. Mariana continues to enjoy tooling around with the walker, although our furniture and walls have seen better days.

Mariana has shown an unusual level of ambition to get up on her feet the last two weeks. A number of times she took steps completely without any coaxing. The therapist has ordered a special brace that should offer her enhanced support and stability. We are very hopeful that this may be the solution that will bring her up on her feet (crawling is still her primary mode of transportation).

Mariana has been sleeping much better recently. She now shares a room with her older sister. This may be providing her with some more security at night.

Soon, Mariana will no longer be eligible for the "Birth to Three Program" (she's turning three in June). We have begun to discuss our options for next year. She could be enrolled in a special preschool program (includes therapy) through the public school system, or taken to Children's each week for therapy. Neither option is as desirable as having therapists come to the house each week!

Thanks for your continued thoughts and prayers. Her condition still exists. At this time, it appears as though the most dramatic evidence of the disease continues to be in her legs and her difficulties with balance.

She continues to be a delight to us. She is doing more and more verbal communication these days, even more since our last entry. Mariana continues to be cheerful most of the time.

We are grateful to all of you who continue to pray for her and check up on her through this website, especially as we approach the first anniversary of this difficult diagnosis.

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Through the Looking Glass

Mariana just completed her month long neuro psyc evaluation. Type 3 Gaucher's disease affects the central nervous system, so Mariana is being evaluated every 6 months. Blood tests are a quick look at how the treatments are helping her body - but it is much more difficult to get a clear idea of what is happening in the brain.

Last week, the neuropsychologist observed Ed playing with Mariana. We had to laugh because the doctor asked if Ed's play with Mariana was pretty typical (try to be totally natural doing ANYTHING knowing that you're being observed by someone in an adjacent room behind one way glass). Ed did laugh in response to the question, and added a very firm "No!" Inspite of the awkwardness of the circumstance, the doctor did acquire some useful information regarding Mariana's verbal communication skills.

On Monday we had the final meeting with the psychologist. The doctors are always very happy and impressed with how willing and cooperative Mariana is. They rate things like visual understanding, comprehension of language, verbal expressive language, fine motor skills, and gross motor skills. Her visual and fine motor skills and understanding of language all improved as would be expected - she moved forward 6 months or more in these areas over the past 6 months. Her comprehension of language evaluation even scored in the three-year-old range.

The main concerns for Mariana are the verbal expressive language and her gross motor skills. Her muscle tone is weak - which affects her speaking and swallowing/chewing ability as well as gross motor skills. Her speaking ability did improve over the past 6 months but not as much as would be expected - in 6 moths she moved forward about 4 months. Her gross motor ability gained about 1 month in the past six months - which is probably the most difficult to see and work with. She just does not have the muscle tone. Her physical therapist really works well with her - and Mariana likes to do her "exercises," but it would seem that the disease is preventing her from moving forward much in this area. With the guidance of the therapists, we will continue to seek ways to work with her gross motor development. Mariana is still trying her best working with her cane.

We can only take it one day at a time and work with Mariana when she is able. Many times the day after the therapists are here, Mariana is physically unable to do much (we have therapists here 2-3 times a week). As the psychologist said on Monday, there may be some days when we may not be able to do much with her, and we'll have to "just be."

We were deeply touched by the message sent by the "Fourth Class" in Kinvara, County Galway (beneath December 4th entry). What a beautiful act of kindness, especially poignant during this Christmas season! Thank you: Cathal, Jenny, Saileóg, Anna, Aoife, Meadbh, Eilinóir, Alannah, Peter, Caoimhe, Emma, Joyce, Georgina, Caoimhe, James, Áine, Alannah, Aisling, David, Evan, Saorla and George and Máíre for all your hard work making posters, rehearsing and playing music. We will certainly look forward to receiving some photos, and would be thrilled to be able to post them here. Thank you Kinvara for your generosity! God bless you!

We are grateful to all for your continued support and prayers. May your lives be touched by the true meaning of Christmas.

-Ann Marie & Ed

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Walking Tall?

At this time, Mariana is completing a four session (over four weeks) neuropsychological evaluation. On Monday, we will be meeting with the doctor to go over their findings.

Yesterday, Mariana received a special cane. Initially, it was thought that perhaps she might better be served by the use of two little canes. Through Mariana's many physical therapy sessions it has become apparent that her left side is weak. Mariana is able to walk upright using the cane in her right hand. She will have to get used to it. Some times she forgets to move the cane as she steps forward. She was VERY excited when the cane arrived. She was really eager to show daddy what she could do with it.

Mariana was very excited to see the ground blanketed with snow this morning. She let us know by using an exclamation we haven't yet heard her use before, "Whoa!"

About the bear...

Two weekends ago, Ann Marie was visiting her brother out of town with the twins. Ed and the older children went shopping and were delighted to see a large display of fancifully carved animals in front of the store. Their eyes were promptly drawn to a little bear, and thoughts of Mariana came to their heads (Mariana has a thing for bears). The artist greeted them with a Hungarian accent and told them all about the carvings.

After leaving the store, Ed decided he wanted to show his gratitude to the artist (with apologies for not being able to make a purchase), and returned to the scene in order to present him with one of his cd's. The young man was visibly moved by the act of generosity and was most gracious. As Ed turned to go back to the car, the man stopped him, and insisted that he take a bear home, "from one artist to another." Ed was very touched by the man's kindness, and explained to him very briefly who the bear would be given to. THANK YOU ZOLI"S WOODCARVING! You made our little girl very happy. The bear is kept in her room, and she loves to give it hugs!

(Please scroll down to see a very happy girl next to her bear)

Zoli's Woodcarving is located in Munroe, Wisconsin. They do wonderful work, and can be contacted at: akzoli@yahoo.com

Thank you for your continuing prayers. Mariana has been quite playful and cheerful these weeks. Your prayers are felt, AND greatly appreciated.

Since the visit of Paul Regan a while back, we have also been seeking the prayers of "Little Audrey Santo." While we ask for your prayers, we also seek the prayers of those already in Heaven. If it is within your "comfort zone," you might remember to seek her intercession on Mariana's behalf.

If you are checking in with us for the first time, scroll down for past entries. There is also a background section, "About Mariana." The "July 2" entry provides the most comprehensive information on Mariana's condition.

Thanks for checking in!

-Ann Marie & Ed

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Mariana Loves the Bear! Thanks "Zoli's Woodcarving!"

See "December 4th" entry for more info...

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Taking All the Good News We Can Get

Everything is going quite smoothly with the home ERT. Mariana has many more distractions to keep her occupied at home.

We have begun a second wave of neuropsychology appointments with Mariana. We first met with a neuropsychologist about 6 months ago. A baseline was established so that further evaluations could be made. Mariana was still within the appropriate range of development for most of the qualities evaluated.

This past Monday, we met again for the first of four appointments. We were asked very specific questions about Mariana's behavior for nearly 2 hours. The results were positive. While Mariana still struggles with her gross motor skills (mostly balancing on her feet and walking), she really seems to have made some progress in other areas. It became very clear to us that she has made some significant strides in her verbal communication. She is definitely speaking more frequently and with more words.

The results of the MRI came back without any concerns. It would seem that her liver and spleen may be diminishing in size.

Ed accompanied Mariana on a walk down the block and back with her roller walker last weekend. She really enjoyed it. The trouble with the walker at present is that while she is assured of some good exercise, it is more of a toy to her. She lunges forward to get the thing moving, which does very little to help her learn to walk. Occasionally she does take her "little steps," however, this never lasts long. One of the physical therapists is looking into some canes for her to try. It would be nice to get her on her feet.

Mariana still has a tendency to wake once or twice during the night. We still are uncertain as to whether this has something to do with the disease or not.

We are immensely grateful for all the prayers that are sent up for Mariana. We firmly believe that Mariana's happiness and recent progress is due to the dedicated prayers of so many.

Since the visit of Paul Regan a while back, we have also been seeking the prayers of "Little Audrey Santo." While we ask for your prayers, we also seek the prayers of those already in Heaven. If it is within your "comfort zone," you might remember to seek her intercession on Mariana's behalf.

If you are checking in with us for the first time, scroll down for past entries. There is also a background section, "About Mariana." The "July 2" entry provides the most comprehensive information on Mariana's condition.

Thanks for checking in!

-Ann Marie & Ed

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Home Hospital

Quite unexpectedly, things have gotten moving quickly with the transfer of Mariana's care to our home. A nurse in Jefferson County was found that's trained in administering the ERT.

We were taken aback when a large quantity of medical supplies and equipment were delivered to our home last week. While it'll be much more convenient to have these treatments administered at home, it was nice to leave all the "medical stuff" behind at the hospital. We have yet to determine a suitable place for all this equipment.

We still have yet to hear any news about the MRI. Our past experience brings us a bit of worry. It seems as though whenever the news isn't so good, they are slow in getting back to us.

We are grateful for your continued prayers for Mariana. Since the visit of Paul Regan a few weeks back, we have also been seeking the prayers of "Little Audrey Santo." While we ask for your prayers, we also seek the prayers of those already in Heaven. If it is within your "comfort zone," you might remember to seek her intercession on Mariana's behalf.

If you are checking in with us for the first time, scroll down for past entries. There is also a background section, "About Mariana." The "July 2" entry provides the most comprehensive information on Mariana's condition.

Ann Marie & Ed

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This Week...

Thanks for your continued prayers and support--we made it through last week's challenges. Mariana handled the fast pretty well. She was awake when they took her from her mother into the room where the MRI was administered. This was pretty difficult (Mariana didn't appreciate being taken away from her mother by a total stranger). After the MRI was completed, Mariana took quite some time to recover from the medication they gave her. We have yet to hear the results of the MRI.

Because of the progressive nature of this disease, we are constantly asking ourselves, "is this something new?" or, observing, "I've never seen that happen before." These are extremely difficult and painful realizations. We are wondering about a decline in her ability to balance. She has gotten pretty banged up in the last few days from some really good falls, and seems to be getting more shaky. In the past, she has been quite stable (on the whole) while grasping onto a table. Recently, it almost seems as though her ability here has weakened. Yesterday, Ed watched her going up the stairs. Although it was late in the day, it proved to be a very laborious and draining procedure. At one point she knelt on the stair and nearly lost her balance--a gentle reminder that we now have to be very alert when she is going UP the stairs.

Mariana has been refusing to take naps lately. She has been getting up repeatedly during the nights with very intense crying. It is impossible to determine if this is disease related or not, but it is yet another source of concern for us.

We have really been feeling the weight of all this. I realize, as time goes on, that it is within our nature to think perhaps that everything must be going alright by now. Please understand that modern medicine's ability to treat this disease is limited. Our hope and trust in seeing our little girl get through this is through prayer.

We are grateful for your continued prayers for Mariana. Since the visit of Paul Regan a few weeks back, we have also been seeking the prayers of "Little Audrey Santo." While we ask for your prayers, we also seek the prayers of those already in Heaven. If it is within your "comfort zone," you might remember to seek her intercession on Mariana's behalf.

If you are checking in with us for the first time, scroll down for past entries. There is also a background section, "About Mariana." The "July 2" entry provides the most comprehensive information on Mariana's condition.

Ann Marie & Ed

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Infusion and MRI

We're heading into a challenging week. Mariana will have her bi-monthly infusion on Monday. Tuesday, she will have an MRI (they plan to do these every six months) aimed at examining her organ size and organ function.

Tuesday will be particularly difficult. Mariana will have to fast from the evening before in anticipation of the MRI. She will be very hungry. They give her an injection that knocks her out instantly. It is difficult watching a little child go through this procedure, especially under the current circumstances.

The first time she had the MRI, it kept getting delayed, and Mariana ended up waiting until about 3:00 in the afternoon before getting to eat (from 8:00 the previous evening!).

Please join us in praying that everything goes smoothly, and, most of all, that no further progression of the disease is detected.

If you are checking in with us for the first time, scroll down for past entries. There is also a background section. The "July 2" entry provides the most comprehensive information on Mariana's condition.

Thank you for your prayers and concerns.

-Ann Marie & Ed

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Our Cheerful Little Girl

Thank you for your continued thoughts and prayers. A special thanks to all of you that joined us in the novena.

We are also grateful to Paul for spending time with us after a busy weekend in Minnesota to pray over Mariana (through Paul's prayers, God has cured a number of individuals over time, and a few others instantly).

He spoke about a little girl whose cause is being reviewed in Rome, "Little Audrey Santos." He was amazed to learn that we were well aware of her story, and that we had already been asking for her prayers! Paul added that he knew her family personally, and actually visited Audrey on numerous occasions.

Paul wanted to go to Mariana to begin the prayer. That meant going downstairs where Mariana was watching "Barney," very contentedly. When he saw her, he observed, "she's going to be a tall basketball player!”

Paul's prayer over Mariana was very moving and powerful. He prayed over her, invoking Our Lady of Lourdes. He held her head at the end and said, “Heal her!”

He gave us a special Divine Mercy medal that was recently cast. He encouraged us to pray The Chaplet of Divine Mercy for her healing every day during the 3:00 hour. This is traditionally regarded as the hour Christ died on the cross ("The Hour of Mercy").

He indicated that he had arranged for Mariana's healing to be the chief intention at the Divine Mercy Shrine the following day. Approximately 1.2 million people prayed for Mariana on September 15th!

He emphasized the importance of trust, faith and forgiveness. As he departed, he said that he felt she was going to be fine, and asked us to let him know how she is doing.

Since Paul's visit, Mariana has had a few difficult days, however, they have been surpassed by the number of cheerful days for which we are so grateful.

We may not know for some time the direct effects of Paul's visit. Still, we are reminded that life itself is a miracle, and if we look carefully enough, our days are filled with them!

Paul's reminder of the importance of forgiveness is worth reprinting here:

Always remember to forgive those that hurt us, from our hearts. God grants us His mercy as we forgive and become more like Him.

Thanks for checking in on our little one. God bless you!

Ann Marie & Ed

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Prayers

We are anticipating the arrival of a visitor from the east coast with a strong devotion to The Divine Mercy that has also demonstrated gifts of healing.

We would like to introduce a special prayer initiative beginning on September 5, and ending on September 13. In the Catholic worship tradition, nine consecutive days in which a particular prayer is offered is known as a "novena." Please join us in praying over the course of these nine days for Mariana's healing. If you choose to, you may wish to join us in offering the Divine Mercy Novena. Naturally, we would welcome any prayers on her behalf as befits your custom. The Novena is accessible at:

www.ewtn.com/devotionals/mercy/novena.htm

For background information on The Divine Mercy:

www.ewtn.com/devotionals/mercy/index.htm


We continue to be grateful for all your prayers and support. Mariana's cheerful demeanor continues to dominate in spite of all that she is going through.

God bless you!

-Ann Marie & Ed

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Surgery

Early Wednesday morning (7:30pm), August 26, Mariana had a port surgically implanted in order to facilitate her ERT. It was a difficult day for her. She ate a good breakfast shortly after her surgery. About two hours later, she seemed very uncomfortable and irritable. At times, she became difficult to placate. At the end of the day, the 6:00 hour, she was inconsolable as the nurse removed the bandages from the surgery. We tried very hard to distract her, to no avail. The process took about 25 minutes.

A difficult day was followed by a tough night. Mariana was obviously uncomfortable, in spite of the medication that was prescribed. As the morning progressed, her temperament improved, and gave way to her cheerful self.

Since the surgery, Mariana has really been quite content. As we observed after our recent trip to Saint Louis, she really thrives on the togetherness of her family. It is when we are all together that the vocabulary moves forward, that she demands, "walk," "walk," that her verbal communication becomes more frequent. Her siblings love her, and really enjoy playing with her (and Kristyna!). They are such an immense blessing to their parents, who sometimes need a break, and to Mariana who clearly loves them in return.

Mariana had a session today with her physical therapist. She spent the session outside, tooling around with a new walker. We pray that whether she learns to walk on her own, or not, that she will be able to get around upright. Mariana has recently begun to demand that we let her walk when we pick her up. I think our next step will be to encourage her to walk with the walker as her chief "mode of transportation."

Mariana has really settled into taking her substrate reduction medication. We have been mixing it with apple sauce, and this seems to be the right combination.

We are gonna begin to post recent entries at the top of the page. Please scroll down for background on Mariana's condition, and for earlier entries. The July 2nd entry provides a comprehensive diagnosis.

(Special thanks to Sarah Riggins. Your care and concern is felt over the miles and the years since our last meeting!)

God bless all of you! Please join us in praying for a miracle.

Ann Marie & Ed

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Mariana: a "serious" fiddle player!

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About Mariana

Mariana Therese was born with her fraternal twin sister, Kristyna, on June 20, 2007. Her name includes the saints "Mary" and "Anne". "Mariana" is also the name of a "Saint Mariana of Quito", canonized by Pope Pius XII in 1950. Her name is also a family name, going back about 100 years. Her middle name is "Therese," after Saint Therese of Lisieux, and after her great grandmother.

Mariana is a very happy little girl. Since we left the hospital, her spirits have been high. She is very playful, and is still up to her "old tricks." She is very inventive in her play. We're not always sure where these ideas come from (she reminds us of our youngest son). Mariana really goes for the classics, like "peekaboo" and "Baker's Man." She also likes to pretend to eat from an imaginary bowl, sing and dance. She makes a very serious face with her eyebrows that always gets us laughing. She really seems to be moving forward in her development, which brings us a great deal of hope.

Background:

In February, concerns about abnormal blood counts called for further examination at Children's Hospital. On March 4, Mariana was admitted to the "HOT" ward at Children's for testing.

Over the course of three days, Mariana was subjected to numerous blood tests, a bone marrow extraction, a brain MRI and a skeletal scan. The preliminary results pointed to a rare, genetic disease called "Gaucher's" (information about this enzyme storage disease can be accessed at www.gauchercare.com). On March 17, the results of an enzyme test came back. A geneticist at Children's informed us that the results provided further support for the Gaucher's diagnosis. The disease is mostly known in three forms, although, a fourth and fifth type exists, which involve the heart. The results of a recent DNA test indicate that Mariana has her own "type" of the disease, which cannot be classified succinctly. These results make it very difficult to forecast the future develpment/progression of the disease. It also makes it more difficult to prescribe appropriate treatment. Her results don't match any other known cases of the disease. Currently, she has vision issues that are consistent with type 3 Gaucher's.

Mariana has begun twice monthly infusions known as Enzyme Replacement Therapy (ERT). She has been receptive to the treatment so far. The ERT is aimed at addressing the various physiological manifestations of the disease. Currently, there is no firmly established, comprehensive treatment for the neuronopathic dimensions of Gaucher's. The "neuronopathic" manifestation of the disease may include deterioration of the central nervous system including the brain.

A visit to the Mayo Clinic revealed to us that there are a number of promising treatments for the neuronopathic effects of the disease being researched and tested, although none have yet been tested on humans.

Please see the "July 2" entry for the most comprehensive and current clinical information on Mariana's condition.

Prayers:

We pray, ultimately, for Mariana's total healing. If it is God's will that Mariana's recovery come from the "healing hands" of the doctors, we must pray for the continued effectiveness of the enzyme replacement therapy AND the efficacy of the "substrate reduction" medication. This has recently been prescribed, and is aimed at addressing the manifestation of the disease in the central nervous system.

What's Happening Now?

Mariana goes to Children's Hospital every other Monday (all day) for her Enzyme Replacement Therapy (ERT). This is an infusion done intravenously. At the end of August there is a plan for her to have a port surgically implanted.

On weeks when Mariana doesn't have her ERT, therapists from the county come to our home as part of the "Birth to Three Program." A speech therapist works with Mariana on her chewing and speaking. Another therapist works on her "gross" motor skills (walking, standing, sitting, etc). A third therapist works on her fine motor skills. Each of these therapy sessions last about an hour each.

Mom & Dad work with Mariana in all of these areas during the day to day. Amongst other things, we are really working a great deal to help her develop strength in her legs. We hope she will be able to walk on her own some day. We just got some special, custom made "boots" that are supposed to give her greater stability.

Three times a day Mariana takes a "substrate reduction" medication whose track record has shown some efficacy in slowing the central nervous system manifestations of the disease. The medicine, in powder form, tastes awful and is difficult to mask. She has been a bit better taking it since we started mixing it with "syrpalta," a sweet tasting, flavoured mixture intended for children taking medication where palatability is a concern.

Every morning and evening, Mariana is treated with a steroid inhaler (much like an asthma patient). This is aimed at helping to improve her breathing. This has really proven to help her a great deal.

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Annual Check

SInce the last entry, Mariana has had a comprehensive series of tests, aimed at determining any possible progression over the last year.

Mariana was a trooper as she endured a full body scan MRI. She really struggled coming out of the sedation, even a day or two later. The results were not definitive. There appeared to be some additional fluid on the brain, which may or may not be related to the disease. Her liver was somewhat enlarged. The doctor couldn't say for certain whether this was due to the advance of the disease, or simply because she had grown in the last year.

The results of her blood tests were all very good. Her twice monthly enzyme therapy treatments appear to be doing a decent job in this department.

This review of Mariana's condition, while not entirely grim, did prove to serve as a troubling reality check for her parents. The doctor made a point of explaining the realities of this disease, and wanted to make sure we "made plans." As you can imagine, this really set us back. He recommended that we make contact with counsellors and the Make a Wish Foundation. While we are well aware that "God is in charge," there are times when this cross is especially hard to bear.

As the weather gets colder, Mariana has fewer opportunities to get exercise out of doors. We are becoming concerned about the recent rise in Mariana's tendency to lose her balance. It's difficult to see her falling and hurting herself so often throughout the day (we may find ourselves reintroducing the walker to inside use).

We were disappointed to learn that our insurance company would not be covering Mariana's hippotherapy (therapeutic riding with a physical therapist working with her). Mariana looks forward to this day more than any other. Her parents see it as an opportunity to make up for some of the things she is physically unable to do. The effect these therapies has had on Mariana was tangible within a few sessions. It really helped to build her confidence, and vastly improved her balance.

THE GOOD NEWS: by the grace of God, we have found someone that is willing to sponsor her treatments! Mariana will only have missed a few sessions, and will be back to her regular appointed day and time! THANK YOU! THANK YOU! MAY GOD REWARD YOU!

We were interviewed by the Make a Wish Foundation today. It made us reflect on the great gift that Mariana is to us and our family.

Please don't forget us in your prayers. Thank you to all who have been with us along the way, helping us to stay the course.

God bless,

Ann Marie & Ed

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Eye Exam, X Rays, One Year Later

In sharp contrast to last year, Mariana did extremely well with this week's follow ups. Because she (and we) had experienced these procedures last year, we were successful in preparing Mariana for them. She said "cheese" and looked at a book during her x rays. The x rays were probably the most difficult for her last year--she had to have her arms waited down and her head immobilized with foam. This time, she reclined calmly on the table, no need for restraints of any kind! Ed merely held her in proper position when the x rays were taken.

Most remarkably, she came out of her eye exam saying, "we had fun!" The attending physician deserves a lot of credit for making the whole examination a lively game. Mariana has 20/20 vision. There has been no perceivable advancement of the disease. We were told it wouldn't be necessary to come in for the next two years.

We will be waiting for the results of her x rays.

At days end, Mariana said again, that she had fun!

..more answers to prayers

Thanks for checking in!

-Ann Marie & Ed

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Surgery Approaching...

Mariana endured six needle insertions today before four different doctors abandoned their efforts to insert the iv for her ERT treatment. On Wednesday, Mariana is scheduled to have surgery to implant a port. It was decided to delay her ERT to Wednesday, when the ERT will be much easier to administer.

(A grade school friend of Ed's, who is a social worker at Children's, stepped in to make the day a little easier for Mom and Dad. Thank you!!)

Mariana is scheduled for her surgery at 7:30am. Please keep her in your prayers, especially on Wednesday morning.

We returned from a wonderful trip to Saint Louis Sunday evening. Mariana was in great spirits. She had been singing "Twinkle Twinkle..." and "ABC's," in her own precious way, often during our trip. She was very cheerful. She really seems to thrive when the whole family is together. She was also playing with her sister, Kristyna, more than we've ever seen her before.

We enjoyed a special dinner at an Italian restaurant the night before we left. Mariana sat and colored with Dad for a solid hour (between bights of spaghetti). We were amazed by her focus/attention span.

Thanks for checking in. We still pray for a miracle.

-Ann Marie & Ed

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Swimming Break!

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"New Shoes"

Mariana is now proudly wearing her new shoe inserts. They are supposed to help stabilize her feet. The day she got them, she cruised around the yard with dad for almost two hours. (She still needs a helping hand to keep her balance). She really likes to wear the inserts.

We have continue to struggle giving her the substrate reduction medication. She took the meds with the syrup well the first two times, and then was done. She spits it out, and then we have the ugly task of forcing it in. Our latest gimmick is to vary the mixtures a bit. Yogurt, applesauce, syrup seem to make the process less predictable for her and perhaps even less anxious.

It is agonizing for us to have this difficulty because this medication is so important (see July 2 entry). Mom and dad are very tense when the medication is administered.

Mariana had ERT this week and did very well. Bruising seems to have returned, and has a us a bit puzzled. She will have blood drawn again in two week's time.

Mariana is getting more comfortable with three syllable phrases/words. She even said, "there's the puppy," last week.

Thanks for checking in. Please keep praying for Mariana. It is encouraging to see Mariana's tiny steps forward--clearly the result of PRAYER--THANK YOU!

-Ann Marie & Ed

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Onward...

Last Friday Mariana was fitted for some special shoe inserts that are supposed to help her to walk on her own. To date, she is really only able to walk if someone is holding her hands. It would be wonderful to see her walking unassisted. Interestingly, Mariana has recently taken to the Fisher Price walker that we have had around the house for some time.

Yesterday, Mariana had another ERT treatment. It went really well, however, she seemed sad and worn out as the day progressed. She wasn't herself, even though all the vitals were on the mark.

Her platelettes have risen dramatically from 37 to 137. This is due in large part to the increased dosage of the ERT. She is being given twice the amount she was given the first few treatments. It seems as though the port will be implanted very soon.

Mariana's spirits have been very good at home. The family played a silly game tonight in which animal imitations were an integral part. She had so much fun getting into the fray! It made a fitting end to a day whose highlight was a visit to the zoo.

We treasure these days.

Ann Marie & Ed

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July 3 Fun

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Exhausted After All The Excitement at the "Wishes for Mariana" Benefit

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July 2

After an extraordinarily uplifting day on Sunday, yesterday we received the most troubling news since we first learned of the disease.

Mariana has been subjected to many tests over the past few months by doctors in a variety of different disciplines. Yesterday, we met with a geneticist in order to better understand the meaning of all the data that has accumulated.

We met for about an hour. He began by showing us the very positive results the ERT has shown in improving Mariana's platelettes. They have been going up. While they still have a way to go, we may see a reduction in Mariana's susceptibility to bruising.

Using a scientific study as a guide, the geneticist explained why bone marrow transplants are totally inappropriate for the treatment of Gaucher's. The disease makes the procedure extremely dangerous. 25% - 50% of Gaucher's patients do not survive bone marrow transplants. The end results of a successful transplant have proven to be limited at best.

He then presented information about a treatment aimed at addressing the central nervous system manifestations of the disease that I will not explain here. It is a treatment that is being done in Canada that may be difficult to get permission for here. It has actually failed in some tests.

The geneticist then presented another treatment. "Substrate Reduction Therapy" has been used here for a few years in addressing central nervous system concerns in Gaucher's disease. The treatment, taken orally, 3 times/day, can result in an upset stomach and nerve damage. In the few years that it has been prescribed, it has shown some measure of success in treating the neuronopathic (central nervous system) manifestations of the disease.

It was then that the meeting took a very painful turn. The geneticist explained that he believes Mariana to have a very severe form of Type 3 Gaucher's, bordering on Type 2. He said that her inability to walk is likely related to central nervous system damage. The early manifestation of the disease also makes it very severe. She does, in fact, demonstrate some level of nerve damage from the disease . Some progression of the disease is perceptible in her esophagus, but nothing of any serious concern at present (the steroid inhaler seems to have helped here). We gave approval for the introduction of the substrate reduction therapy.

We then learned that while these treatments can be effective, they are not so efficacious that they will stop the disease entirely. Eventually the disease itself will overtake the treatment's ability to address the advancing symptoms. Mariana's central nervous system will begin to decline. The geneticist said "she may have ten years."

He indicated that the chances are very slight that the disease may be present in our other children, but recommended that they be checked. Kristyna (Mariana's fraternal twin sister) would be at a slightly higher risk.

The implications of all this are quite daunting. For the time being, we are opting to keep this information from the other children. As symptoms progress, we may have some explaining to do. Right now Mom and Dad will try very hard to carry this quietly.

Please, especially now, do not relent in storming Heaven with your prayers. We have had a very difficult day, and a most challenging road ahead, yet we must understand that this is all part of God's mysterious plan. We both agreed to take EACH DAY God gives us with our beautiful girl as a blessing.

Thank you for the blessing you are to us!

-Ann Marie & Ed Paloucek

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July 1

Many thanks to all who made Sunday's benefit such a boost to us! Kevin, Denise, Kaitlin, Bud and Linda, Pete and Dawn, Pat, Ray, Jack & Kathleen, indeed, everyone who came, we all had a wonderful day! Mariana was in excellent spirits, taking so much in that she eased herself into a nap by afternoon's end (see picture below!).

To the musicians: Troy MacGillivray, Andrea Beaton, Kimberly Fraser, and Nuala Kennedy -- a big THANK YOU for really making the afternoon extra special. It's always a blast when you're around, and farewells are always tinged with sadness! May God be with you as you continue your travels.

Thanks everyone who travelled distances to be with us on Sunday, especially the "Minnesota Cousins," and Karl and Stephanie. We were so grateful you could be with us.

Please continue to keep us in your prayers.

God bless you!

-Ann Marie & Ed

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June 23

The twins had their 2nd birthday on Sunday! We all had a great time celebrating with Ed's family & Ann Marie's mom. A fun-filled baseball game and the twins making a mess with cake were highlights. Hopefully, pictures on the way.

Hope you can make the gathering on Sunday. See Kaitlin's entry, above.

God bless!

-Ed

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June 16

Mariana had her fourth ERT yesterday. They increased the dosage, and will be increasing the dosage over the next few treatments. She seems to have handled the increased dosage pretty well.

Soon, Mariana will be given a daily "substrate reduction" medication that has demonstrated a degree of success in halting the neuronopathic progression of the disease in a few cases. This medication is fairly new, and is the product of research being done in Europe. One of the physicians we met with yesterday indicated that about 50 doctors are at work either directly or through consultations on our case.

We've been working aggressively on Mariana's verbal communication and her motor skills. She does seem to be making progress. It appears as though her vision issues have either diminished, or she has really learned to compensate for them. Sometimes it appears as though she has no issues at all.

Many thanks to everyone involved in organizing the benefit for Mariana which is to take place on June 28 (see Kaitlin's recent entry) at "Trinity Farm" in Ixonia. We are overwhelmed by the kindness of many beautiful people giving so generously of themselves. THANK YOU!

We find great comfort and peace in knowing that God is near as we carry this burden. Your prayers mean a great deal to us, we know they are helping Mariana.

God bless you!

Ann Marie & Ed

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Mariana has had some really good days since our last entry. She has made some small steps toward better verbal communication. She is becoming better at using one syllable words to tell us what she wants. She pointed to some books and said, "books." She lets us know when she wants to get out of her high chair by saying, "out." We are so relieved when she shows positive signs of development.

Thanks for your prayers! We have great hope, especially on days like these!

Ann Marie & Ed

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Mariana is doing a great job with her daily respiratory treatments. She is used to the apparatus, and likes to impress mom and dad with her ability to use it. Her sisiter, Kristyna, doesn't like seeing the treatment administered, however. She shouts, "NO! NO!," and tries to take it off her. It's nice to see her sister looking out for her.

Mariana still seems to be responding well to her ERT treatments (she had her third on Monday). It does seem to take a lot out of her though. She seems pretty tired a day or two after the treatments.

Mariana is thrilled to have her older siblings home from school. The great weather has meant that she can be outside so much more. She enjoys this very much.

This morning, Mariana put a wooden puzzle with more difficult shapes together by herself. She's always needed a bit of help maneuvering the shapes into place.

Mariana has also been having fun with a toy fiddle Ed resurrected. She knows how to hold it and what to do with the bow. This has become one of her favorite toys.

So, there are some promising signs of her mental development. We are working with her on communication, and continue to walk with her in order to help develop some strength in her legs.

We are so grateful for your continued prayers and to so many people who have been giving us their support.

May God bless you!

-Ann Marie & Ed

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May 20

We spent 2 hours with a neuropsychologist yesterday afternoon to review the results of Mariana's examination from last week. On the whole, we were encouraged by their findings. Mariana's abilities in a variety of areas scored average for her age. She scored high in receiving information. This means she is doing very well in understanding information that she is receiving: simple instructions, requests, etc. She scored low on her "gross motor skills". This was no surprise, given the fact that she has difficulty walking. Mariana will be working with a variety of different therapists every other week in order to help her pick up the slack. Mariana has shown an increased willingness to walk in recent weeks.

The neuropsychologist was very impressed with Mariana's overall behavior. The psycholgists really enjoyed her. They indicated that it was unusual for one of their patients to be so pleasant and cooperative. It seemed like Mariana really won her way to their hearts! (not surprising to mom and dad!)

Thanks for your continued thoughts and prayers. Mariana's mental development is an area of great concern to us.

(We will begin Mariana's twice daily respiratory treatments today)

-Ann Marie & Ed

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May 6

On Monday, Mariana received her first ERT (enzyme replacement therapy). Mariana slept during the first hour and a half of the treatment. She basked in the attention she was getting while she was "chained" to the machinery. A nurse monitored her every 15 minutes. She responded to the treatment very well. We are very hopeful that this trend will continue. The next three or four treatments will take place under close observation, in the "HOT" unit at Children's.

Mariana has had some difficulty during these past two nights. Her temperature was a bit low last night. Tomorrow she will have some more blood work.

Today, Mariana was examined by a physical therapist, an occupational therapist, and an early childhood educator. The physical therapist gave us some direction in helping her to develop strength in her legs. Mariana surprised us this afternoon, and then again this evening, by standing up and taking a few steps. She hasn't done this on her own initiative for a good number of weeks now. Did she know we were discussing walking with the physical therapist today?!

The occupational therapist and early childhood educator were impressed with her intelligence. They observed her fine motor skills and cognitive ability. They said she was doing very well overcoming her sicatic vision. She has adapted well to this condition. It is likely that a speech therapist, occupational therapist and a physical therapist (large motor skills) will be working with Mariana in the future.

Last night, we were cleaning the kitchen while Mariana played by herself in the living room. When we checked in on her, we found her "playing the fiddle" with John Paul's little shield and sword. The shield was tucked under her chin (like a violin) while she moved the sword (bow) back and forth across the face of the shield! Needless to say, Ed was very proud!

Tomorrow, Mariana will have her routine blood test. On Monday, we will be meeting with a neuropsychologist to discuss her development. On Tuesday, Mariana will have an IPT (infant pulmonary test) and a echocardiogram. She isn't permitted to eat or sleep during the morning leading up to her afternoon appointment. Ed will be on hand to help keep her distracted and entertained.

(We are still awaiting the DNA results)

It's been a full week, with some encouraging results. We really feel your prayers, and are sure they are helping to move Mariana forward.

God bless you!

Ann Marie & Ed

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April 28

We got an unexpected call from the hospital this afternoon. The geneticist wanted to schedule Mariana for her first ERT (Enzyme Replacement Therapy) treatment on Monday. For the first two or three months they will admit us to the hospital in order to allow close monitoring. Each treatment will take at least 5 hours. The therapy will be administered through an IV.

Tomorrow, Mariana will have a comprehensive eye exam and a swallow test. We were informed that she won't be permitted to eat before the swallow test, which could make for a very challenging eye exam.

So, we now enter a new phase in our journey. As she begins these treatments, we pray that she will be receptive to them, and that they will really help to treat the physical symptoms of this disease.

Studies show that ERT does not treat the neuronopathic dimension of this disease. There are a number of promising treatments being developed. None have been introduced to human subjects. It seems as though a bone marrow transplant could halt these effects as well. We pray that Mariana continues to develop as she should. A less invasive treatment with safe, proven results would be an answer to prayer.

Today, she sat with Ed and succeeded in assembling a puzzle all by herself. We are hopeful that these kind of signs continue.

Ann Marie & Ed

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April 26

Mariana had a routine checkup on Friday. Our pediatrician was pleased with her continued attempts to walk.

Saturday we spontaneously decided to travel to Saint Charles, Illinois, to meet with some very holy priests that were attending a conference there. They prayed for Mariana with us and anointed her. Mariana was very happy, and performed her classic "happy dance" to the amusement of all.

We spent the day together as a family. The rain failed to dampen anybody's spirits. Our older children had a lot of fun with the twins.

This week we will be going thorough a series of evaluations for the "birth to three program," a comprehensive eye exam and a swallow study.

Mariana's first ERT treatment is being scheduled - most likely in May. Her DNA results should be back within 10 days.

We continue to be grateful for the generosity of so many people, those we know and many that we do not. We pray that God would bless each of you and your families in abundant ways. We pray that you each would have PEACE in your heart. THANK YOU.

Ann Marie & Ed

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April 21

Ann Marie spoke extensively with a genetics counselor yesterday. Mariana is likely to begin Enzyme Replacement Therapy sometime within the next two weeks. We are waiting for a call from the hospital to finalize scheduling.

Mariana will be in the hospital for eight hours for the first two (bimonthly) treatments. The ERT solution will be administered very slowly during these appointments in order to determine her receptiveness.

We will be returning to a circumstance not unlike those which Mariana experienced at the beginning of this journey. She will be hooked up to various monitors/machines. Please join us in praying that she is comfortable and peaceful for these procedures.

Mariana has been very much herself during these days. We are so glad to see her so happy and playful. Clara (big sister) spent a great deal of time with the twins early yesterday evening. There was a lot of laughter coming from the girl's room. We take each day as a blessing.

Thank you for all your thoughts, prayers and words of encouragement.

-Ed & Ann Marie

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April 20

We are "reeling" from such a profound outpouring of generosity at the Irish Cultural & Heritage Center yesterday afternoon! Thank you everyone for your amazing support and concern. Kathleen, Jack, and Eloise--words fail to express our profound gratitude to you for all that you did to organize such a beautiful benefit for Mariana. Ed was totally, totally surprised. We all had such a great time! Mariana was SO happy (It almost seemed as though she knew the party was for her!).

On Friday we met with a cardiologist. Mariana had an "EKG." An extra beat appeared on the tape for the 10 sec that she was being monitored. The physician didn't think this was any real cause for alarm, however, he sent us home with a special monitor attached to Mariana for a 24 hour period. Mariana was very cooperative, and endured the discomfort of wires and a little box attached to her with little complaint.

We continue to appreciate the prayerful support that's being offered, around the globe. We have received so much encouragement, in so many beautiful ways. May God bless all of you!

-Ed & Ann Marie

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April 12

This week Mariana had her first in a series of examinations on her lungs, so far so good. She has a lot more tests in the coming weeks. She continues to be a real trooper through it all. She has gotten used to having her blood drawn (she has her blood taken every other week).

Not knowing if it's type 1 or type 3, the appropriate treatment can't be determined. She will have enzyme replacement in the beginning; however, if she does have type 3, it seems we will have to take a serious look at the bone marrow transplant option.

We are beginning to look at other hospitals experienced with Gaucher's. We have come across a hospital in Sweden (Sweden is a geographic location with a higher concentration of the disease). Treatment of this disease seems to go back less than 30 years, therefore long term experience with treatment is limited. We want to gather as much data as we can. Join us in praying for wisdom.

Ed & Ann Marie

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April 2

Today at Mayo we met with a neurologist who worked alongside the physician that developed enzyme replacement therapy in the treatment of Gaucher's disease. This was the most informative of all our appointments on the disease thus far. This doctor is an expert on Gaucher's disease, and he was able to give us some very clear direction, and answer many of our questions. First of all, he was quite certain that Mariana DOES NOT have Type 2 Gaucher's (the most severe, and fastest moving type of the disease). He explained that a Type 2 patient would have very advanced symptoms by 21 months (Mariana's current age).

After asking Mom & Dad extensive questions, he examined Mariana. He confirmed the enlarged spleen and liver, and then proceeded to examine her vision. He noted a slow lateral tracking with her eyes. She tracks normally up and down, but her head moves before her eyes do when she's looking from side to side. The neurologist told us that this phenomenon was indicative of Type 3 Gaucher's. The DNA test will still be the final word here, but Type 3 seems likely. He explained that Type 1 could be possible for one her age, however, this symptom does not appear in Type 1 patients. Apparently the DNA test can help to determine definitively the Type, severity, and level of treatment.

Ann Marie and I were impressed with the neurologist's knowledge and interest in the disease itself. He spent two hours with us, He took us through every scan made of Mariana's brain (dozens of scans) and showed us that there was nothing in the scans to be concerned about. He showed us all the scans of her organs. Everything is fine here (with the exception of the liver and spleen, of course).

He was very firm in backing the enzyme replacement therapy. He strongly advised against the more risky bone marrow transplant. He explained that the enzyme replacement procedure has proven effective and should be pursued. Unfortunately, no current treatment has been successful in treating the neuronopathic effects of Type 3 Gaucher's, which we are told can begin at any stage of a person's life.

So, today we find ourselves looking for a silver lining. We now have great hope that it is not Type 2 Gaucher's. We have found an expert in the disease that is open to us contacting him at any time. We have a strong advisement against the frightening bone marrow transplant option. Now, we wait for the DNA results.

We are planning lots of family fun while Spring Break is still in session. The other kids have been so good during our absence. It's really time to come together again and have some REAL "R & R!"

Thanks for your continued prayers! (Please keep them coming!)

Ed and Ann Marie

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April 1

We are currently in Minnesota. We have been enjoying our visit with Ann Marie's family. As usual, we feel very much at home, and are so very grateful for their kindness. We took Mariana to Mayo on Monday to meet with a pedeatric hemotologist. We had an early afternoon appointment. The doctor reviewed the test results from Children's, and agreed with their conclusions. Gaucher's disease is the correct diagnosis. She sent us to a geneticist to review Mariana's symptoms and history in more detail. The geneticist was with us for over an hour at our Wednesday appointment. She answered all the questions we had prepared for her. She was very thorough in her explanation of the disease, possible symptoms and treatment. She was very sympathetic to the challenge we are facing as we wait for the DNA results. Although she wasn't able to make a definitive diagnosis, she did express her doubts that Mariana has Type 2 Gaucher's. She also persuaded a very busy neurologist to squeeze us in tomorrow. This doctor was recommended by Children's.

Mariana had a fever on Sunday, and woke up Monday in an extraordinarily good mood. The hemotologist saw Mariana at her best. On Tuesday, some kind of bug returned (?), and Mariana struggled all day and through the night (Mariana has a low platelette count due to this disease, making her more vulnerable to illness). She improved a little bit for her appointment today. She has been a real trooper while waiting and waiting to meet all kinds of nurses and doctors.

The hemotologist indicated that Mariana's liver and spleen are double in size. Mariana isn't as willing to eat normal foods. Her enlarged organs are pressing against her stomach. We hope to obtain some direction in how to deal with these concerns, while we wait for treatment to begin. Until then, we are praying that she obtain all the nutrition she needs.

We are still praying that Mariana be completely healed of this disease. We continue to be overwhelmed by the prayers that are being offered on her behalf, across the country and the world.

Thank you! Thank you! Thank you!

Ed & Ann Marie

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March 26

In the coming weeks Mariana will be examined by a developmental specialist. We have appointments scheduled for Dad and Mariana, Mom and Mariana, and just Mom and Dad. Gaucher's can affect the brain, these evaluations will be aimed at trying to determine if there are any developmental issues that may be present.

On Monday, March 30, we will be taking Mariana to the Mayo clinic to meet with a specialist in diseases of the blood.

We were very concerned last night. Mariana seemed to be in a lot of pain. She was crying very deeply, nearly inconsolably. The crying got particularly intense while she was in a lying down position. We were instructed to give her Tylenol, this didn't seem to have much of an effect.

We got another glimpse last night of the most difficult reality of this disease. Please continue to pray for her. Please add to your prayers that she be relieved from the intense pain that can be associated with this disease.

As time goes on, we are increasingly anxious about all that is happening. We still pray for a miracle. Please join us in praying for her rapid healing, and that she would be spared from excessive pain.

We are so grateful for the prayers and support we have received over these weeks. This morning we received a generous check from anonymous members of our school community. We are humbled by your kindness and caring for us during this difficult time. This contribution will go a long way in assisting with travel and other expenses as we consult with a variety of different experts in the weeks ahead. Thank you! God bless all of you!

Ed & Ann Marie

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March 22 Update:

First, as we kick off this effort to "get the word out," thank you for your prayers. In spite of our anxious concerns, we are so aware of Christ's presence as we carry this cross. Your prayers are felt very strongly. THANK YOU!

Mariana can suffer pain from her enlarged organs (although lately we're not sure if it's this, or her molars coming in). On the whole, she has been in wonderfully good spirits since we left the hospital at the beginning of the month. She is very happy and playful. She continues to surprise us with her intelligence. Tonight, Ed was looking at a book with her. He had her pointing to pictures and saying the words; there was a puppy, and a cat amongst other age appropriate images. In the corner was a toaster. Wouldn't you know--our 20-month old pointed to the toaster upon command without missing a beat!

We are learning to take every day as a precious gift. Needless to say, our perspective on life has changed dramatically in the midst of this trial.

Next week, we will be visiting the Mayo Clinic in Rochester, Minnesota, to obtain the opinion of an expert in blood diseases at that hospital. We also plan to consult with the Gaucher Center at Mt Sinai Hospital in New York City.

Prayers:

Just as Ann Marie and I were becoming aware of how serious Mariana's condition was, we received an email from some friends (Lisa & Dave) visiting Prague, Czech Republic. They let us know that word had gotten to them about Mariana, and that they were praying before the miraculous image of of The Infant Jesus of Prague at Our Lady of Victory Parish. We received great consolation in their message. Naturally, any prayers on Mariana's behalf are appreciated. If you would like to join us in the special devotion Ann Marie and I are offering you will find the Novena to the Infant of Prague here: www.catholictradition.org/Christmas/prague3.htm (Actually, there are many prayers to "The Infant of Prague." Ed was pouring over them one night, when Mariana herself came up to his computer, pointed to the one referenced above, and was distinctly heard to say, "copy this!").

We are praying for a miracle. The treatments Mariana may face are daunting. We pray that to the wonder and bewilderment of the physicians, the disease will have completely left her system, and that Mariana will lead a long and healthy life of service to our Lord.

We will try to keep you up to date. As of right now, we are simply waiting for the DNA tests to be complete.

Thank you again for your prayers and concerns,

Ed & Ann Marie

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May 18

Thank you for checking on Mariana's progress. Mariana was at the hospital all day today for her second ERT. Apparently, the 2nd, 3rd and 4th treatments are typically the one's where adverse reactions can occur. She will be under continuous observation during these treatments. Everything seems to have gone well this time. Mariana returned home from the hospital feeling very happy.

Last week's IPT was tough, given the fact that she wasn't permitted to eat for 7 hours in advance of the two hour procedure. The decision was made made to treat a rattle in her breathing with a twice daily dose of steroids that will be administered through an inhaler apparatus much like the one that is used to treat asthma. This will begin soon.

We were surprised today when the geneticist brought in the long-awaited DNA results. The results do not match any known cases of the disease. We were warned of this possibility. It means they are unable to identify the disease type. DNA results can be used to make determinations about the severity of the disease as well as the manner in which it may be manifested. This information is not available to us. We are in uncharted territory.

What we do know at this point is that her sicatic vision is typical of the Type Three form of the disease. She could have a combination of different types, or a Type not yet identified.

Mariana's spirits have been quite good these days. We are very grateful to Ann Marie's mom for spending these weeks with us. Mariana and Kristyna have really warmed up to her. She has been a tremendous blessing as she helps us to tie up loose ends in the midst of so many appointments.

Please continue to pray for Mariana!

Thank you!

-Ann Marie & Ed

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