We had our follow up appointment with our genetics team yesterday. Dd underwent a full exam again and they have told us that as of right now they are giving her a "working diagnosis" of Russel Silver Syndrome but will continue to investigate.
She will now be included into a specific study of children who seem to fit the RRS diagnosis but do not have the genetic proof (50% do not) They said in the last year genetic testing and analysis has come a long way and they are able to see small changes in the genes, not just the chromosomes. They can also test now for other syndromes that cause poor growth.
She continues to be apart of the international growth study.
They also want to begin testing her brother as he too is small for his age and has lower set ears and a large head. They said that changes within the genetics of the same syndrome can show up differently in siblings so while he eats and poops just fine he may also be affected.
Both kids have very fine hair, thin skin (you can see every vein), triangular shaped faces, extremely small rippled teeth (which could be just because they are small...or not), absolutely no fat on their bodies and speech issues (DS still needs to be assessed for speech but appears to be behind).
The paperwork is piled high and I now have to get a referral from our pediatrician for DS to be included into the genetic studies. Once the genetics department figures out if they have enough blood from previous visits, what clinical and research tests they want to do and in what order I will be sent out consent forms.
Wh isn't really interested in continuing. He hates putting dd through tests and now DS just makes him hate it more. I asked if there could be long term effects that would make going forward necessary. They said that's exactly the question to ask. The testing might give us a formal diagnosis, something that cannot be cured. But. It may give us an idea of what possible health concerns we should keep watch for in the future.
It's both exciting and scary. I'm excited because I will have paperwork for the school board now that will help us with continuing DD's services and excited to see if we will discover a new syndrome. Having a child with issues but no explanation is frustrating. Perhaps these studies will benefit other parents who have a small baby who doesn't thrive. They'll be able to see right away that it's "whatever syndrome" and not go through the hell of being accused of neglecting their child.
I'm still scared and worried for my kids but one step at a time. We won't get results right away but at least the process is underway.