It’s been quite a while, actually over three years since my last post. There’s been a lot going on with Sarah in the past six months, so I am going to get right into it. She was diagnosed with BPAN a couple of years ago on Valentine's Day. I had pretty much figured that I would never know what her DNA secret was but it was finally uncovered by genetics here at Childrens Hospital in DC. It is very rare, researchers are learning more and more about it as more people/children are diagnosed. Sarah is part of a research study out in Oregon. Anyway, there is no treatment, no cure, it is degenerative. She will continue to decline and her lifespan is pretty short. If you'd like to read more about it, there are 2 links on the side bar.
So specifically I will share what she has been experiencing recently. Sarah has gotten tighter overall. Her right arm, which has always been her ‘usable’ arm is getting pulled more towards her chest with her hand fisted. She can only roll side to side in her bed and actually she can only roll from her right side to her left side, once she gets there she’s stuck and she can no longer roll over onto her stomach and get up on her elbows like she could do a year ago. She suddenly developed a strong tongue thrust with most foods and could no longer take her medications so a GTube was placed a month ago on an emergent basis. That went smoothly after a five day inpatient stay and I am trying to figure out pump feedings versus bolus feedings versus how much she can take in of certain foods by mouth and all that goes with figuring that out. I weigh her every Friday and she’s staying at 84 pounds which is a good weight for her, anything more and I won’t be able to lift her so where she is right now is great. Actually anything between 80 and 84 pounds is the target.
Anyway it’s much easier now to just give her her meds and her fluids, and I just count calories every day to make sure she’s getting enough between what she can take in and what formula feedings are. So we are getting into our new normal routine and it’s going pretty well. The hardest thing I’m finding for myself is that with BPAN there is a dramatic decline sometime in the 20s. So I feel like this is what’s beginning to happen and I don’t know if her decline is going to go swiftly or slowly and if she will even survive the decline to last a few more years. So it’s very stressful adjusting to what’s happening with her. Mostly for the past years she’s been fairly stable with just slight gradual loss of some skills. This is all new and I am trying to find some ways to cope because I have a feeling its gonna require some endurance.
She remains happy and medically healthy, she still loves to go out in the car and we get around as much as we can. Because it’s flu season we do have to lay somewhat low to protect her from any viruses that are going around. She still has her big smile and her giggles and music is still number one on her list. Her niece is getting older, She is now four years old and she enjoys reading books to Sarah so they have a common activity that they can do together.
So that’s a brief overview of what has been going on with Sarah recently and I’ll get into more as I start posting more frequently. Here’s a few photos of my girl for now.
