Baldwinsville, Ny
USA

315-802-8202

THE PURPOSE OF MY BLOG IS TO FIND OTHERS OUT THERE SIMILAR TO OUR DAUGHTER'S CONDITION.  TO HAVE OUR STORY BE HEARD AND SPREAD AROUND. TO GET GUIDANCE, MEET NEW PEOPLE, A VIRTUAL COMMUNITY OF HOPE! WE'RE HOLDING ON TO THE POSSIBILITIES! LET YOUR VOICES BE HEARD. EVEN IF IT'S JUST A HELLO 

A Mother's Journey~Ezra Monet

Make A Wish ~ Dreams do come true* (update on Hannah)

Christina Manning

Today Hannah was visited by Make A Wish Foundation, to find out her true wish, and what an experience that was. Bittersweet indeed! Hannah decided she wants to go to Disney to meet all of her favorite characters! Buzz lightyear, Jiminy Cricket, Flounder, Cat in the Hat, Candyland theme park, Woody, Lightning Mcqueen, Olaf, Minnie Mouse, and Mickey Mouse, and so many More~  

*Also recently she has started wearing HKAFO braces to help with her balance! She's doing really good with them!  She goes in tomorrow to meet with the pediatric surgeon, to discuss her getting a permanent G-Tube because currently she is getting no nourishment, and it is affecting her health! 

So to put this in a nutshell and to explain this simply, if simple is even something I can even do lol.  So we had a follow-up with neurology... her mri showed the spaces that we all have in our cerebellum... hannah's spaces are wider than normal... meaning her cerebellum is already showing mild degeneration... she has what is called cerebellar atrophy degeneration.. there going to do a muscle biopsy to measure the muscle conditions and coQ10 level, order ambulatory monitoring eeg, and publish her story in Genetics and neurological journal of Medicine..

All if the muscle strengthening test they did in the office like "squeeze my finger" push against my hand, etc she was scoring a +4, at a range from 1 to 10, 10 being best.. +4 for all the test.. she was weak... he had her put her feet together, put her hands in front of her close her eyes and balance and every time almost fell... lost her balance. scared him a couple times he actually called the nurse over, he referred to that as ataxia..? I literally broke down bawling... couldn't hold back... never seen that before... he had her lay down in the floor, and seeing her struggle to go to a standing position was heartbreaking... she usually never gets on the floor... this shit sucks, was all that kept running through my head! Another hurdle we are about to face, is she meets with a pediatric surgeon on Thursday for a G-Tube consult, and then surgery follows. She isn't taking in any nutrients at all, and they are surprised she hasn't fainted, or collapsed with her sugar levels dropping. So this next step is extremely difficult for us to process... Yet to get Hannah to understand, I can't even come up with a social story just yet to explain this next step to her. She has an esophageal disease called eosinophilic esophagitis, her nerves in her stomach are basically null and void her stomach doesn't digest properly... 24 hrs later it's still full of food... she has major delayed gastric emptying. She has high increased eosinophils in her stomach, as well as in her blood work. Her bowel has kinks in every curvature of it, and her body is always in distress, so her white blood count is always high, her platelets are always high, and her acylcarnitine levels are always high. Her growth failure (she has dwarfism) she's only 4' 4' (lack of appropriate growth) because her mitochondria are “malfunctioning”, in this case, her cellular “engine” will not be able to convert the nutrients from the foods she eats and convert them to usable energy. In such a case, you can push calories in, but they may simply be accumulating as fat. The stomach not digesting well is a consequence of the mitochondria in her gut not adequately fueling the tiny nerves that move digestion along. IDK if that makes any sense, again I am still trying to make sense of it all myself.. 

We have been working with an organization called Rare Science, and as soon as there site is up and running our story will be published! Here is a preview of our story!!! Hope you enjoy!!!