In our home, we don't look for developmental milestones. We look for the inches, like the first time our daughter, Rae, held her own bottle at 14 months. Now at 22 months, Rae looks like a typical toddler on the outside, but she doesn't toddle or even crawl. She does not "baby talk" and is currently not able to communicate using sign language (read about it here or here), but she does give a pretty good "High-5" (watch the video here).
Here's our story...
Our medical journey began when she about five months and we were told Rae had Hypotonia (a fancy word for low muscle tone). After that, our world became a blur of doctor appointments and testing. By August 2011, she was diagnosed with Scoliosis, likely caused by her Hypotonia. In September, Rae had her first MRI with "normal" results and then proceeded with a Nerve Conduction Test...also "normal." She was accepted into an intervention program and started receiving physical therapy once a week and we were hopeful, but then the word wheelchair came up and we knew there was not going to be a "quick fix."
In November, we had lab work completed to determine if Spinal Muscular Atrophy was the culprit of all Rae's medical concerns (which came with a whopping bill...still unpaid). Then the "tremors" started concerning us and we ended up back at the hospital for an EEG. Diagnosis...Epilepsy. Now it was time to start the grueling process of figuring out which medication or combo of medications would stop the seizures. This also meant we were going in for a second MRI. We then went to Genetics (read about it here) to see if there was something they could find and so far (thankfully) everything is "normal" and sometimes that can be a bittersweet result. We are now waiting on some Mitochondrial test results which won't be back until Oct.
It has been heartbreaking and the medical expenses just keep piling up (some caused by my own recent unexpected surgery). Our little Rae of sunshine is special needs. I don't think anything in life prepares a person for that realization. Every time we think we have the bills and our emotions under control, another rug gets tugged and we're falling to the floor...again.
Our official diagnoses as of July 9th are: Hypotonia (read about it here), Myopathy, Global Developmental Delay, Epilepsy (read about it here), Scoliosis (read about it here), and Nearsightedness (she looks cute in glasses). Fortunately, those little inches keep adding up and now, at 22 months, Rae can sit independently for over 30 seconds, lift her head while on her tummy, and can finally bare some weight on her arms (just a bit). These are impressive developments in our home and this is just the beginning.
I kept holding onto the belief that we would be able to manage this on our own and recently came to the conclusion that we needed help. Since the account was opened, we have gratefully and thankfully received $550 towards Rae's medical bills. Some given through FundRazr and some given to us directly. Words can not express the gratitude we feel towards those that have so generously given. Thank you!