Erin's Genetics Follow up

After spending the day at Children's in Boston we did get one solid answer --- NO Rett Syndrome or any other major known disorders.
~+ Praise God +~

She does have 3 mutations in her genes that need more comparisons (against our blood) which we gave while we were there. This will tell them if it's something we passed on or something that "starts" with Erin. It will also determine if or what percentage any future pregnancies could result in similar disorders. Genetics wants to get the results from our tests before doing any further testing for Erin. Bottom line even when genetic codes are translated there most likely won't be a magic "pill" or cure. They may find out what the mutation is but there is a good chance nothing can be done once they know. We will follow up with neurology since we haven't seen them since October. We were also put on a 4-6 month wait list for the Development medicine center where she will be evaluated by a team of doctors. I have NO idea why this was just NOW mentioned during past visits. The only reason we found out is because WE specifically asked if there was such a thing. What I don't understand is why on earth after the first visit we had with them for global developmental delays why we weren't immediately signed up for this center. I'm kind of devasted we did not asked ourselves but I didn't know such a thing existed and I trusted the 7+ doctors see has seen to mention it. Not to pass blame but just another confirmation that no one is looking after your child like you can! Do your research and ask.

We pray she continues to make progress, develop and grow into the unique little girl God intended her to be ~ normal or not (whatever that is.) She has an appointment on Friday with physiatry for pediatric equipment evaluation. I'm expected to find alot of resources at this appointment.

At this point not much else we can do but to love her like crazy, work with her, educate ourselves and be her medical advocate and have faith that this is all apart of the Lords plan.

A good day overall ~:)

~Thank you all so much for all the love and support~xoxox Love, The Quinn Family