When my son was first diagnosed with a chromosome disorder, the geneticist told us that there were no other reported cases that were similar, and he had no idea what we could expect. We lived everyday not knowing if a heart condition, liver problem, or other medical land mine was waiting right under the surface. We had no idea if we could expect him to ever be able to live on his own, or even if he would have a normal life expectancy. There were no local support groups with parents who had been through it before, no books to check out from the library, no online forums, no fundraising walks or awareness ribbons. We were in the dark, left to figure it out as we went along.
My son has 5q11.2-5q13.2 deletion, he is missing 37 genes from his 5th chromosome. He is amazing, with a great sense of humor and a beautiful smile, but he is also small for his age, has many feeding difficulties, estropia, nystagmus, epicanthal folds, brachydactyly, developmental and speech delay. There is no ‘name’ for his condition because in order for something to be described as a syndrome, there must be others with similar symptoms. 1 in 200 babies born have a rare chromosomal disorder, and because there are so many genes (approximately 20,000-25,000) that can be missing, duplicated, or moved around, many of them are completely unique and are in the same position we were in. Organizations such as Chromosome Disorder Outreach and Unique, with slogans like “You’re not the only one out there” and “Unique but not alone”, seek to bring together the families of these affected individuals to give them a sense of belonging. Families can come together and at least share similar stories about having no one to share similar stories with. While these organizations do a tremendous amount of good, I think it’s high time to start rallying for a common database for all geneticists worldwide to report these rare disorders, a place where they can be cross referenced and syndromes can be recognized so that physicians, patients, and parents alike can learn what to expect and dramatically improve quality of life and even save lives with early intervention. But I digress.
Today, I found an article published in the American Journal of Genetic Medicine detailing not one, but FOUR other children who have similar deletions and symptoms that my son has. All had eye abnormalities, developmental delay, and MR and each had other symptoms my son has. Three of these children reside in France and one in Brazil. Obviously these children had been seen by doctors before today, and yet when both of the geneticists my son has seen as well as the laboratory that did his initial testing researched his deletion, they came back with nothing. I’ve spent many hours researching on my own as well and have never found more than one reported case of a baby who died at birth and another 10 year old boy who had a similar deletion and shared a few symptoms with Jack but not many. If it were not for Chromosome Disorder Outreach’s Winter Newsletter I received this morning which gave a synopsis of the article (as well as others involving different chromosome disorders), I probably would not know that my son really isn’t THE ONLY ONE OUT THERE.
I have contacted the lead author, a geneticist is Rennes, France, and hope to help further research into this possible syndrome by providing any information about my son that I can. Who knows, maybe even a trip to France is in our future? Either way, just knowing that there are others and that they are healthy gives me hope.
Thank you, CDO, for giving us a sense of belonging.