Craig

By Beverly Frey
New Tripoli, Pennsylvania

Our search for a diagnosis for Craig began shortly after his birth in February of 1986. Craig was born with several "soft dysmorphic" features, including a small extra digit on each hand, a wide nasal bridge, and epicanthic folds under his eyes. The pediatrician told us that children like Craig are commonly called "FLKs" or "Funny Looking Kids," and are at risk for developmental difficulties. We thought this was a cruel way to tell worried parents that something might be amiss with their newborn son. Craig's chromosome analysis came back normal, as did the numerous other tests he endured in the first few years of his life. At four months of age, Craig was diagnosed with severe myopia (near sightedness) and he was fitted with his first pair of glasses soon after his surgery for strabismus at six months.

The early years were a nightmare filled with fear and uncertainty. Craig's development was borderline" and he showed many autistic tendencies. By age two his sleep disorder was quite evident and he started head-banging, usually for reasons completely unknown to us. My greatest concern and obsession at that time was that Craig might have mental retardation. However, he had so many relatively high level "splinter skills", such as learning to read sight words at age 4 1/2, that it was easy for me to stay in the land of denial. The uncertainty was torture, however. I found myself envying parents of children with Down Syndrome, who received a swift, albeit painful, diagnosis. By the time Craig was seven, he had seen many specialists, including a geneticist, in an attempt to discover the cause of his delays. He had a repeat chromosomal analysis done at this time, in hopes that technological advances would finally yield us an answer. Again, the results were maddeningly normal.

By this time I was a Mom with a Mission. I pored through the 1992 Physician's Guide to Rare Disorders and studied each syndrome, looking for a description of my son. (SMS was not yet listed in that edition.) On the internet, I bookmarked the OMIM (Online Mendelian Inheritance in Man) website, and searched their database of disorders. The "Search" feature in Exceptional Parent magazine was favorite reading. I'll never forget the day in December of 1996 when I happened upon Elwyn's newsletter, Genetwork. I was working as a substitute special ed teacher and the absent teacher had Genetwork on her desk. My heart was racing as I read the articles and descriptions about Smith-Magenis syndrome. I copied down the PRISMS contact information and called PRISMS that evening. When I spoke to Ann Smith, I had no idea that she was THE Smith of Smith Magenis! I thought she was the parent of a child with SMS. What an honor and privilege it was to speak directly with her! My crucial question was "Is it possible that Craig has the deletion for SMS, even though both his chromosome tests showed normal results?" She explained that a FISH probe, looking specifically at the 17th chromosome, was often necessary to find the deletion.

The next day I sent Ann pictures of Craig and some of his medical reports, and called his neurologist to request a FISH probe for SMS. She readily agreed, although at that time she had never heard of SMS. As we waited two weeks for the results, I devoured all the literature I could find on SMS. Ann Smith called to tell me that after studying Craig's pictures and reports, she and Dr. Frank Greenberg were very interested in seeing Craig. We were able to make an appointment at the National Institutes of Health for January 21, 1997. Craig would be just under 11 years old. The night before our trip to the NIH, our neurologist called - Craig tested positive for Smith-Magenis syndrome! I was relieved and ecstatic to finally have an answer.

Only positive things have come from finally receiving Craig's diagnosis. The biggest benefit and honor has been the opportunity to meet and communicate with other SMS families. Craig's funding through our county's MHMR (Mental Health/Mental Retardation) program increased considerably after his diagnosis. We learned about the research being done and what information has been yielded by this research to date. And although I know there are no guarantees in life, I rest a little bit easier in knowing that the SMS deletion does not typically run in families, and that should our daughter choose to have children, she wouldn't pass the deletion to them.

I don't know that I would have welcomed a diagnosis of SMS when Craig was a baby. I can only imagine how frightening it must be to read the literature when your child is very young. Still, I mourn the years without his diagnosis. I believe that Craig's early therapy would have been more intense and SMS-specific had we known about the SMS. Craig lost his left eye due to a retinal detachment when he was 8 1/2, caused by a combination of the myopia and head banging. No one had told us that the myopia coupled with the head banging was dangerous to his eyes, so we did as we were told and ignored him when he hit his head. I believe that had we known about the SMS, we would have been warned about the possibility of a retinal detachment, and would have learned how to protect his eyes. Craig starting taking medication (Clonidine, given only at bedtime) soon after the detachment. The head banging virtually stopped and Craig slept well for the first time in his life. His overall behavior improved dramatically and family life became much easier. I think we would have started him on medication earlier had we known he had SMS.

I would not go back to those early years of “not-knowing" for anything. It is now clear that Craig does have mental retardation--my worst fear when he was younger--but I rarely grieve for him anymore. Craig is a delightful, joyous child (most of the time!) with many gifts in addition to his challenges. I find it incredible that a tiny missing piece of a chromosome causes our children to have so many unique behaviors and learning styles. I will be forever indebted to Ann Smith and Ellen Magenis and all the others who identified the SMS deletion. I'm also grateful for the specialists at the Baylor College of Medicine and the National Institutes of Health for their research efforts and expert advice. The support we have received through PRISMS has also been of enormous help to our family. Most of all, I feel so fortunate to have come across that crucial issue of Genetwork, and for the outreach Elwyn does to educate the public about SMS.