"Silver-Russell dwarfism, also called
Silver–Russell syndrome (
SRS) or
Russell-Silver syndrome (
RSS) is a growth disorder occurring in approximately 1/50,000 to 1/100,000 births. In the United States it is usually referred to as Russell-Silver Syndrome, and Silver-Russell Syndrome elsewhere. It is one of 200 types of
dwarfism and one of five types of
primordial dwarfism and is one of the few forms that is considered treatable in some cases." - Wikipedia
After our stay at Albany General in October of 2011, we had some genetic testing done on Maverick and he was diagnosed with Russell Silver Syndrome in late November 2011. This syndrome is fairly rare and what this means is that he is going to have a small build, possibly reaching 5 ft naturally. This also helped explain his aversion to eating since people with this syndrome aren't big eaters.
Q: How does this affect his eating?
A: After our stay in the hospital in October 2011, Maverick had a feeding tube thru his nose as a temporary fix to ensure he was receiving adequate nutrients. After his diagnosis and discussion with his pediatrician and doctors at Doernbecker's Childrens Hospital, we decided to have a g-tube surgically implanted into his belly in March 2012. There were many reasons for this decision and thus far, we have yet to regret it.
Mav has occupational therapy 2x/month to work on eating and we are seeing a slow improvement. He is very curious about food; wants to hold it, pick it up, taste it but doesn't necessarily want to chew it up and swallow it. He does great with smooth textures but bigger stuff is more complicated. He loves to drink out of sippy cups and has mastered a straw quite easily. He gets formula feeds thru his tube approximately every 3 hours during the day and then a continuous feed at night. From the research we have done, it will probably be some time before he will be free of the tube especially the night feed. According to our research, this is a hurdle that seems to fade with time which is encouraging on the more challenging days.
*Note - as of today (02/10/13) he is now wanting to eat anytime he sees food and he is chewing/swallowing almost everything. We have to remove very little from his mouth and he has begun using utensils! The amount of food is still small but I am very encouraged by this hurdle he is overcoming!
Q: How big will he be?
A: Great question and it is one I am sure Grant and I think of often. Who knows really. He could reach approx 5 ft naturally and there is the option of growth hormone injections we could begin when he reaches the age of 2. The growth hormones have many benefits (growth of internal organs, etc) and height could be one of the areas impacted. Each kid is different so it's not a guarantee but overall, seems to have fairly good results.
Q: What other areas does it impact?
A: So far he has been slightly behind in physical development, speech and he has asymmetry in his legs (right leg is shorter/smaller than left - trait of RSS).
He started out at 2lbs 10ozs and 14 1/2 inches long but with a fairly average sized head (another trait which they grow into). He sat up later than his twin sister, crawled and walked later. Alot of that has to do with the fact that his head was/is bigger than his body and that makes it heavy. He started walking at 17 months and he is quite the mover. He has physical therapy 2x/month and started out very cautious because there was alot of head bonks but has really blossomed into a curious daredevil who likes to exert his independence (yesterday I found him sitting on the dining room table with his sister). Makes me a little nervous some times but he is acting his age ;)
His vocabulary has really started taking off which makes sense since he is eating more and eating/speech go hand in hand. He is currently saying mama, dada, oh no, up, all done, Elliott, gunner, nigh nigh, bubba and there are a few others. He sings the sounds of twinkle twinkle & ABC's. He is doing amazing!
He has asymmetry in his legs which means that his right leg is approx 1 cm shorter than his left. His left leg is also slightly bigger than his right. We met with the orthopedic surgeon the end of Nov 2012 and were thrilled to hear that they had no concerns at this stage. We will continue meeting with him as Maverick grows and a lift may be needed if the difference increases but nothing is needed right now.
These are the Cliff notes ;) I am sure I could ramble on here for ages but these are the main points so far.
We love this little guy so very much
