Okay, so I am just going to throw everything out there since my nephew was just diagnosed with SMA type 2 and I’ve been researching genetic links to my daughter’s degenerative epileptic encephalitis (it’s been diagnosed as different conditions: ESES, childhood temporal lobe, Rolandic, spike and wave, there’s been a lot of terms thrown in there). There is a lot of links related to the SMN1 and ASAH1 genes. She and I may both be recessive carriers of mutations. That being said; I have scoliosis, but not progressive, my spine is just really twisted and curved. Last MRI I had was 5+ years ago and I had two lesions that were to be monitored but then I had a special needs child so I don’t get my own tests done anymore and I know I need to do that. I’m also on psychiatric meds and experience severe anxiety. My half sister and I share our dad who has a myriad of psychiatric issues that led to debilitating alcoholism and other health issues. She developed progressive scoliosis as a child and had to wear a back brace and eventually have a rod put in her spine to keep it from crushing her lungs. She now has a shoulder blade that protrudes and ribs that stick out and it seems to match the description of neuromuscular scoliosis. She’s also had one seizure while driving in her twenties, but it was written off to her drinking way too many Red Bull’s on an empty stomach trying to drive to vacation. I’m 34 and she’s now 25. She also has a myriad of psychiatric issues including debilitating anxiety, eating disorders, and an attempted suicide when she was younger. With therapy and drugs, we are both fairly leveled our individuals now with happy marriages and children. She has the one child (1) with SMA type 2. I have a daughter (7) who has been battling this medication resistant epileptic encephalitis that causes learning delays and received IVIG infusions. My other daughter (6) has almost debilitating anxiety and speech delays but no history of seizures. She is working with a counselor for her anxiety. And now we have a baby boy (7mo) that has now twice displayed something related to an infantile spasm and a seizure, which has caused me to be up at 2:30 AM reading any scholarly article I can find linking all the neurological issues. Mostly between her son and my daughter. It just seems there has to be a correlation that we both have children with degenerative Neuro diseases and when I read all about issues associated with these gene abnormalities, I can’t help but think we need some much more in depth genetic testing. I have emailed my daughters neurologist tonight and I also have researched clinics studies related to genomics and epilepsy and plant to pursue contacting them tomorrow. Does anyone know what kind of genetic specialists I should be looking for? Is there a geneticist out there specifically studying SMA and epilepsy?