The cavalry...I mean Physiatry has arrived!

You know when the clouds part and reveal a perfectly blue sky and suddenly a bright colorful rainbow appears...that's a glimpse of how I felt today. I feel like 200 lbs have been lifted from my shoulders. Like I was being heard for the first time during the past 10-15 months of Erin's mysterious diagnosis. Like it wasn't all in my head! Why all this euphoria you ask? It was my physiatry appt. To say it was amazing would be an understatement.

Sean and I thought we were going somewhere to discuss Erin's physical behavior with one doctor. They'd look at her, we'd leave and still feel like we don't know anymore than before or where to turn next - NOT the case today. After we checked in we were greeted by a TEAM of specialsts. Just when I thought we had met everyone another doctor introduced themselves. I couldn't believe they were all here to see me...Erin. I thought Hmm, maybe they read her medical write up and want to do a case study - is she really that bad or unusual!? Much to my delight and surprise this is just how they roll at this office.

They escorted us into a large room that was less like a doctor office's and more like an amusement park or mini gymnasium. There were mats on the floor, stair climbers, jump ropes, balls, toys and special walkers and tables. As they explained what specialty each person had they explained what they would be doing. After they asked alot of questions they put a large mat on the floor and play time began. The team sat in a circle will Erin in the center. They evaluated her movements, bantered back and forth about posterior this and range of motion that. They cheered her on as she tried to reach for things or follow an instruction. They picked up on things that E.I. had not mentioned. Things even I as her mother didn't notice. They listened, they explained everything, they told me what she needed next and then told me what she will need AFTER next. We had a game plan ~ Finally!

After the evaluation was over they said she should be fit for bilateral AFO's (ankle-foot orthosis/ankle braces) which will help her stand correctly, they wrote her a prescription for a stander that will help her core and leg muscle strength and get her up and present in the world instead of on the floor all the time. They increased her physical therapy for once a week instead of once a month (in addition to her OT, Developmental Specialist and speech) they discussed equine therapy once she turns 2.5. They got her an appt. with a GI specialist when everyone else told me it was just a laundry problem.

I was expected so little but was given so much. Prayers answers...again Thank you :) ~ (wink, wink), God.)

Great day!

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