My son, Adam, is currently 13 years old with Russell Silver Syndrome.
Our journey down the RSS path has been very different from many other parents and partially that can be attributed to the fact we live in Canada.
Adam was born at 5 lbs 3 oz . I had experienced some spotting during my 32nd week of pregnancy and, as a result, the doctor diagnosed Adam as “small for dates”. Primarily putting the “blame” on the unexplained bleeding. There were no other indicators of any problems during the pregnancy or with the baby.
Adam was our second child. Adam’s sister is 16 years old now, and very tall and very not RSS. We settled into life with two children and on we went. Adam needed to be awakened every two hours to feed as he was working so hard to drink such small amounts he would fall quickly back to sleep. We used preemie bottles with the softest nipples we could find. He was not able to breast feed. Now, looking back, I realize his low muscle tone (hypotonia), common to RSS children, was the cause. But back then? I just did what I was told to do for my baby.
Adam experienced some site-specific reactions to his DPT immunizations as a baby that no doctor could explain (pussing, swelling at the site) and around the age of 2, I was concerned he was only speaking in one- or two-word utterances. I asked for some referrals to examine the speech and was sent to a neurologist.
He quickly concluded that Adam’s speech was developing within the normal range but he was very concerned with Adam’s small size and slow growth. Our doctor had no concerns in that area thus far.
So began our journey into the realm of “What is wrong with my baby? Will life be Ok for him? What does this all mean? Can I cope?” A whirlwind of doctors, specialists, and every single test under the sun now became our life. When Adam was 3 years old, I started to hear the word “Russell-Silver Syndrome” more often.
Adam seems to have a mild case. He does not have asymmetry, he does not have the curved baby fingers, he does not have café-au-lait spots, and he never has had a feeding tube. He does have poor growth, he does have a massively delayed bone age (currently about 5-6 years delayed), he does have a prominent forehead, and in fact his head is larger than the rest of his body. We did the genetic testing for UPD 7, which came back negative. But the fact remained he was undoubtedly RSS.
Treatment options and procedures are so very different in Canada (specifically Ontario) from what I have read the Americans have to do. I have been lucky, though, to have close access to the Hospital for Sick Children. The doctors there are tops in their field, world renown, and I feel that our care has always been good.
Many children with RSS end up getting growth hormone at some point or other in their life. We were no exception. However, in Ontario, GH is not covered by our health care system (OHIP) unless the child is growth hormone deficient. Therefore, the opportunity to begin that treatment was not offered to us for several years.
When Adam was 8 years old we started the nightly injections of GH. I was very fortunate in that my employee health insurance coverage pays the bill for us. In my research I was also able to discover a couple of drug companies that were willing to offer GH, for as long as needed, on their compassionate program (little to no cost involved).
Once Adam began the GH he grew!! Boy did he grow. We found that his grow rate increased 4 times it’s regular (non GH) rate.
Currently, at the age of 13, we have added testosterone injections for a short period of time (one shot every 6 months). As Adam has gotten older, his small size has had a negative impact on his self-esteem but the slight, short-term use of testosterone has made such a wonderful and positive impact for my son, I wish we had done this sooner! He has had some even “better” growth with the testosterone and has developed some beginning signs of puberty that really make him feel 13 years old.
Our journey through RSS continues. There is some question of problems from undiagnosed hypoglycemic episodes as a baby that could contribute to his struggles in school. In the fall we will begin an entire new chapter in our lives as Adam heads off to high school.
My son, as every parent will say, is truly one of a kind. He has a very unique personality and no matter where we are, or whom we meet, people are drawn to him. He is outgoing and friendly with a huge amount of compassion and caring for others. At the same time he is incredibly independent and head strong and knows what he plans/wants throughout his day.
There have been moments of tears and frustration for me as I travel this RSS road. Some days are much worse than others. But at the end of it all, I just look at my awesome son and realize it has all been worth it and it will continue to be worth it into the future.
Debby – Ontario, Canada