Hi Everyone - i have not had a chance to get online and check on everyone else's updates, nor have I had a chance to update everyone on Leah. So today's the day!
Not to much new happening at the current moment with Leah. What we have learned is that she did in fact test positive for the RASA1 gene mutation which confirms her diagnosis of Parkes-Weber Syndrome. My husband and I have both been tested for this same gene mutation and we were both negative. So this was not something we passed on to her, its something she just ended up with.
We have also recieved Leah's brain MRI results back and there was some good and bad news....good news, no avm was found in her brain. Bad news - they did find evidence of previous bleeds and past ischemic insults (lack of blood to parts of brain) this "could" explain her gross motor delays and speech delays. That being said we have not had any direction on what these results means...
We have been referred to Boston Children's Hospital to a Dr. Stephen Fishman and we are anxiously awaiting his input - his team is set to discuss Leah's case in March - and it's just another thing to wait for.
In the meantime we start Physical Therapy and Occupation Therapy for little Leah March 5th, and we are very excited to get that ball rolling!!
Nothing else in the way of treatment plans have been set out - as we are told the risks with intervening with Leah's AVM are way to great. But my thoughts are, aren't all interventions on AVM high risk?