My daughter Amanda has a genetic deletion (monosomy) on chromosome 15 (q21.2-q22.3). When she was first diagnosed in 1999, there was very little information on her syndrome. We were given one article starting with “There have been only four reports of deletions in the more distal 15q2 region, 2-4 all involving severely handicapped infants.” Looking at the chart, two had passed away by their third birthday. Discouraging news for new parents.
Amanda not only survived her third birthday, she thrived. Although her development was delayed, she continued to grow and remain healthy. She started walking at 5 1/2. When tested at age 10, her development was on par with a typical 2-year old, causing her to be classified as “severely delayed.” Still she was progressing and, most importantly, she was healthy and happy.
However, we have been alone this entire time. We have never met anyone with a similar chromosomal deletion. There are no support groups when you are one of six known cases of a disorder. There are no marathons for financial support. No special T-shirts or car magnets. No one to talk to.
Amanda’s life has been a series of unknowns. Will she walk? Will she talk? Will she need surgery for this or that? Without a network of other families, we’ve just had to wait and see, always hoping for the best. I worry because the ages of the survivors in the paper we were given were 15 months, 14 years and 18 years old. The article came out in 1990. The oldest would now be forty. I hope they are all well, with happy and fulfilling lives. But there is no way of knowing.
Recently I’ve noticed what seems to be a slight deterioration in Amanda’s overall health. It is nothing serious, but enough to concern me. For instance, she had several clonic/tonic seizures (grand mal). I wish I had someone who had been through this before me. Someone who could say,”it’s okay- it’s just part of the syndrome sometimes.” But I don’t.
I’ve always considered Amanda one of the lucky ones because she survived infancy. I assumed that if she made it past that critical period she would be more or less fine. Now, I’m starting to wonder what to expect. I wonder how those other survivors are doing. What are their lives like? Do they have the same symptoms? Have they had the same surgeries?
I’ve been on a quest to find other survivors. I was thrilled to find two with close chromosomal deletions. One is a boy with a nearly identical deletion. Happily, he is also 13- and luckily he has far milder symptoms. He is walking, mainstreamed in school and very healthy. Encouraged, I realized that where there was one there might be another. I researched every rare chromosome group I could find on the Internet. I believe that I have located four more individuals with a similar deletion. That brings the number of documented instances of this particular chromosomal deletion to eleven!
I have no idea how old these children are or what they have been through. I’ve been able to get some contact information, so I’ve reached out to them. Hopefully they will respond. I hope I hear from the other families. I hope we can share stories and provide support for one another. I am so grateful that we are not alone anymore. Maybe we can get T-shirts or host a marathon someday.