Russell-Silver Syndrome

So WHAT Is Russell-Silver Syndrome?

The incidence rate of RSS is extremely rare, at a rate of 1 in 50,000 to 1 in 100,00 births.  RSS children have a myriad of phenotypes, or physical characteristics/traits that help to define the diagnosis.  Not ALL RSS children exhibit the same traits – thus, making a diagnosis for some children very difficult. 

Macrocephaly (large head for body-size), small triangular face, body and limb assymetry, failure to grow with poor catch-up growth, poor appetite, low muscle mass and tone, and clinodactyly of 5th finger…..are just some of the characteristics of an individual with RSS.

My son has Russell-Silver Syndrome.  I will never forget how we came to a diagnosis.  When Ian was born at 5lbs. 4 oz., we reveled at the fact we had such a cute, small baby. Our first child had been almost 9 lbs. and we were enjoying carrying a lighter load. When Ian had to be awakened for every feeding and would only eat 2 ozs. at a time, we assumed it was due to his small stature. The physicians reassured us he would catch up. At seven months, Ian was not catching up. His head was in the 95th percentile and his body was below the third. His little body wasn’t even considered to be on the growth charts. When he was unable to eat foods without gagging at 8 months, and he continued to drink poorly, our ongoing concerns, which started soon after birth, caused an incredible feeling of trepidation. The physicians continued to say he would catch up, but that was no longer acceptable. Thus began our journey of advocacy for our son. After a myriad of tests at eight months resulted in no apparent cause, it was our continued persistence that led us to a geneticist and a diagnosis at nine months. We finally had our answer to why our son was different. Our journey with Russell Silver Syndrome had begun.

Over the last 5 years, we have had countless hospital stays, surgeries, and ongoing therapies.  Just last year alone, we had 27 mandatory physician appointments – including Endocrinologist, Cranio-facial specialist, Gastroenterologist, Geneticist, Nutritionist, Feeding and Speech Therapists, Dentist and Pediatrician.  For the first time since December 2009 – our son has been hospital free for one year.  In the first grade, he has become accustomed to frequent blood sugar testing, growth hormone shots every night, daily medications, g-tube feedings (food delivered through the abdoment by way of a feeding tube), and of course – the social implications from being smaller than his peers.  He only has 3 adult teeth, two baby teeth are missing and are not yet visible through the gum line, and the rest of his teeth are all baby with a 100% overbite and cross-bite.  I might add, he lost one tooth during a golfing event with his friend…..who apparently thought he should use his dad’s real golf club and swing it at my son’s head….”on accident” of course <LOL>.

Our son is “determined” like his mother <grin>.  He deals with his chronic rare disease with grace and complains quite frequently about having a Mic-Key button (g-tube).  Like anyone else – he doesn’t want to be “different”.

In the beginning – our difficulties were greatest – as it seems when our RSS children are younger – their feeding and health issues are more intense.  In the last year, we have enjoyed the routine of the shots, the doctor appointments and the stability of knowing that even an ounce of weight gained in a month – is better than nothing.   When I say we have “enjoyed” – the truth is… truly has become much more at ease.  Quite frankly, we have finally pulled through the denial and anxiety stages of our child’s chronic illness and have begun to live “with it” – as opposed to being “frustrated” with it.

My son is beautiful.  I love him very much.  He has taught me even greater strength than I ever could imagine – and I’ve learned a lot about myself as well as intensified my faith.  I’m glad to know – and love a child with Russell-Silver Syndrome.