The International Society for Mannosidosis & Related Diseases, Inc. presents
the most precious gift of all
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by Liz Cunha Fucosidosis Parent & Director-at-Large ISMRD Board of Directors cunha@mannosidosis.org |
as published in Pathways Fall 2000 edition (vol. 2, no 2)
It was July 1999 that we anxiously awaited the results of some very important blood tests. The results would reveal if mom, dad or sis would be a match for Kevin. Our son Kevin was diagnosed with Fucosidosis at the age of 18 months. We realized something was wrong with Kevin at about 12 months, when he continually struggled to sit upright and could not manage to crawl on all fours. After numerous tests and months of waiting for results, our Geneticist diagnosed Kevin with a storage disorder. Two weeks later, a skin biopsy confirmed that Kevin had an Oligosaccharide Storage Disorder called Fucosidosis.
I remember coming home and feeling numb for days. When the numbness finally subsided, I sat at the computer and started searching for someone or something that could help us understand what was happening. That is when I came across the ISMRD website. I spent the next couple of weeks searching for answers. Bone marrow transplant was still an option for Kevin, but our time was running out. We decided to be tested to see if there was a match in the immediate family. With only a 25% chance of mom, dad, or sis being a match things were not looking good. But then the call came, and it confirmed that Vanessa, our daughter was a perfect match. And, so we embarked on our journey, Kevin was admitted to the hospital on September 7th and spent the next 60 days at the University of Connecticut Health Center. He was very sick and developed many complications during his hospitalization. He stopped breathing twice and the second time the doctors had to intubate him. Things were beginning to look hopeless, but we continued to pray and in November Kevin was released from the hospital. In April of this year he was readmitted to the hospital for the placement of a g-tube in his stomach.
Kevin is a very active, social little boy who loves to follow his sister around the house. He is now 2-1/2 years old and is delayed in fine and gross motor skills along with speech delays. As the days go by and Kevin gains more and more strength I realize that the gift of life is the most precious gift of all. The fact that Kevin cannot speak does not bother me as it once did, the fact that he will need hearing aids, no longer haunts me as it once did. I have to admit there are days we still yearn for normalcy in our life.
It has been a slow and painful process accepting life as we now know it. But with the support from our ISMRD families and with God's strength we will conquer the obstacles and accept whatever the future brings.
I decided to become an ISMRD Board member because I want to be able to help someone who may feel as helpless as I once did. I no longer feel helpless and I know that our Society can make a difference. As an International Society our experience with Oligosaccharide Disorders spans across the globe and we can learn from one another. When I attended the 5th International Symposium in Minneapolis Minnesota in May 2000, I had the opportunity to meet Paul, Debbie and Taryn Murphy and John Forman. I walked away from the conference with a feeling of "hope" for our children. We need to continue the pursuit of recognition for Oligosaccharide Disorders and as a group our voices will be heard. Thank you ISMRD for the support you have given my family.
If we can be of assistance to anyone, particularly in regards to Bone Marrow Transplants we would love to hear from you!
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kevin cunha |
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