Monday, March 18, 2013

What it's like: having a child with Russell Silver Syndrome

I could get really scientific, and tell you that Riley has a methylation of her 11p7 chromosome but that probably doesn't help you understand anything about Russell Silver Syndrome.  So I'll start about a year ago.  I always thought after Riley had her heart surgery that she would have this big growth spurt, and catch up to where she was supposed to be, for height and weight.  Well that never happened.  At first, her pediatrician and her cardiologist just said they thought Riley would be petite.  The months went by, and Riley started missing some of her developmental milestones.  Again, everyone said "She had heart surgery, we would expect some delays." 

She didn't sit up, unassisted until she was 8 months.  By 12 months, she was still not crawling, and was still very small.  So I began to press for answers.  I just wasn't satisfied with the "she's recovering from heart surgery."  It started in August.  I started at a pediatrician.   From there, we got in to see a physical therapist.  We also started to see a pediatric gastroenterologist.  The GI recommended we see a genetic counselor, and the pediatrician agreed.  So we went to see a geneticist.  For months, we had appointment 4 days a week.  Riley was poked and prodded beyond belief.  She was also scoped during this time.  She had x-rays to check her bone age, her growth hormone was checked.  She had stool samples and urine samples.  We also kept a food journal, to determine how many calories she was consuming.
And we learned nothing.  Except that she consumed more calories than the average child of her age.  If you've ever spent a day with Riley, this was not a surprise to you!  Everyone agreed that there was a problem with her growth, but they couldn't figure out what.  They continued to go back to putting her on a high calorie diet.  Developmentally, we began to see improvements working with the physical therapist.  

You see, Riley is VERY flexible.  And will be for the rest of her life.  She doesn't have hip dysplasia, but she can rotate around her legs, just like you can rotate a barbie doll's torso without much leg movement.  See the picture below.  Well Riley can flip her legs in front or back or back her by simply following through from the position you see here.  It's rather incredible.  

She wore these shorts for months: hip helpers.  The crotch is sewn together, so she couldn't do her crazy leg movements.  She can still do her crazy movement now, she's just out of the habit.  But every once in awhile, I catch her on the floor and see her flip her legs in back of her.  This picture was on of the first times she pulled herself up.  She was 14 months old here.  

In October, Riley had an endoscopy.  When I went to receive the results, the GI seemed stumped.  He apologized, because he could not figure out why Riley wasn't growing.  He wanted to put Riley on a high calorie diet, to see how she'd respond to it.    Before I left the appointment, the GI asked if the geneticist had ruled out Russell Silver Syndrome.  I said "I don't know, should I ask?."  He wanted me to ask, even though he thought the geneticist had probably already ruled it out, but he knew it was a genetic disorder that affected growth.  In the meantime though, he wanted the high calorie diet.  The next day, we had an appointment with the geneticist.  I asked about the Russell SIlver Syndrome, and he had thought about it, and ruled it out, due to a lack of physical markers.  However, like the GI, they had no answers for me and decided to run the test for it.  It would take 4 weeks to get the results.   

It didn't end until the very end of November.  I received a call from the genetic counselor at Rush Hospital to confirm that Riley had Russell-Silver Syndrome.  She commented that she was glad they had decided to test for it, even though they believed she didn't have it.  So I began to read about what that meant for our family.  I really hadn't researched it yet, because we've learned how easy it is to become consumed with something, from Riley's previous medical conditions.  

Russell Silver Syndrome is the "specific alteration, to include depletion, duplication, insertion, substitution or imprinting error within the code of a specific gene located at a specific site in an individual's genetic code."  Riley's mishap is located within chromosome 11.  During conception, a part of this chromosome didn't get activated.  The syndrome carries a slew of complications: 

body asymmetry 
inadequate catch-up growth in first 2 years 
persistently low weight-for-heightlack of interest in eating 
lack of muscle mass and/or poor muscle tone 
broad forehead 
large head size for body size 
hypoplastic (underdeveloped) chin & midface 
downturned corners of mouth & thin upper lip 
high-arched palate 
small, crowded teeth 
low-set, posteriorly rotated &/or prominent ears 
unusually, high-pitched voice in early years 
clinodactly (inward curving) of the 5th finger 
syndactyly (webbing) of the 2nd and 3rd toes 
dimples in the posterior shoulders and hips 
narrow, flat feet 
fasting hypoglycemia & mild metabolic acidosi
generalized intestinal movement abnormalities
blue sclera (bluish tinge in white of eye)
late closure of the anterior fontanel (soft spot)
frequent ear infections or chronic fluid in ears
congenital absence of the second premolars
delay of gross and fine motor development
delay of speech and oral motor development
kidney abnormalities
delayed bone age early, later fast advancement
early pubic hair and underarm odor (adrenarche)
early puberty or rarely true precocious puberty
classical or neurosecretory growth hormone deficiency
ADD and specific learning disabilities

A little over a month ago, we got in to see a geneticist here in North Carolina, at Duke. The move from Illinois back to North Carolina put a slight delay in seeing a geneticist about this condition.  Russell Silver varies in severity, and we are so happy to say that Riley has a mild form of it.  Meaning we shouldn't see any learning disabilities.  She'll be shorter than average, but she should be bigger than dwarf size (RSS is a form of dwarfism).  She'll always eat all day long.  We'll continue to see some gross motor delays, but she should develop.  She'll just continue to develop on her own track, 6 to 12 months behind average.  For David and I, it's the best news we could've gotten. 


Anonymous said...

She is BEAUTIFUL, Samantha :)

Anonymous said...

Thank you very much for such a detailed description of RSS from a parents point of view. I have a 2 year old daughter who has many of the markers for RSS and although she is under the care of a genetisist and other specialists they have never mentioned RSS and still have yet to diagnose a condition. I will certainly be bringing up RSS at our next appointment. I have noticed that many of the pictures of toddlers with RSS seem to have loose joints (like my daughter) do you know if this is one of the symptoms?

Family Travels on a Budget said...

I am in the Carolina Bloggers FB group and just clicked on your blog link because you mentioned law :D. I'm a "retired" midwestern attorney… You wrote a fabulous description for the layperson! What a blessing to parents looking for answers. Our younger two kids have developmental disorders, and your positive view of things will be such a help to you as you confront issues with/for Riley. Keep that positive attitude no matter what! When she's older, she will adopt your attitude as her own.

Unknown said...

We are in the hospital right now....I just read your blog and it's exactly what we see in my son...we will see geneticist tomorrow.

Kate said...

Hi, did she ever get to have human growth hormone at all? My daughter who is 1.5 years has been diagnosed with the syndrome and will soon be on the course to having hgh injections.