This is how Bekah goes anywhere, and by anywhere I mean doctors appointments. She never goes anywhere else. An ambulance comes for her staffed with EMTs, nurses, and or respiratory therapists. The team works together to carry her and all of her gear to the gurney waiting in the courtyard. She is given a cocktail of Ativan and Benadryl one hour before transport to keep her calm. If she gets upset, it can quickly turn into an emergency. I ride along in the back and Bekah's nurse usually gets shotgun.
Today, we went to a much anticipated appointment with a geneticists, Dr. W. I didn't know what to expect. I've met with a geneticist before, Bekah wasn't present, and the meeting didn't go well. The doctor was a condescending jerk and made it her whole point to express to us not to expect a cure. We weren't naive and didn't need that sort of negativity. This meeting was totally different.
Bekah was required to be there so the doctor could examine her. His assistant came in first, took some cursory notes on family medical history, asking about the health of siblings and cousins and curious about any untimely deaths like that of my sister.
After the interview was over, the doctor came in and his first words after introducing himself were, " Rebekah! I have read a LOT about you." Great first impression. He asked me some more questions about family history asking if anyone had muscle weakness or difficulty letting things go. Letting things go? The only thing my family has trouble dropping is a grudge.
So with family history offering no new insights, he moved on to his exam. He measured the circumference of Bekah's head, her nose, ears, hands and feet. He was particularly interested in her hands.
Her fingers don't straighten out all the way and she has a birthmark across her knuckles. But he was interested in the shape of her fingers. They're tapered but quite chubby at the base. This was a curiosity to him so he took some pictures. He plans to consult with the genetics team about her in November, hopefully some of the other doctors have some insight.
I had been hoping that this appointment would lead to some testing that might confirm her muscle biopsy reports. Dr W. explained to me that congenital fiber type size disproportion is poorly understood. Previously, they could determine two genes that cause cftd, now they identify 6. In a year's time, there's no telling what advancements and discoveries might be made. Until the human genome is better understood, there are no easy answers for Bekah. She is still considered undiagnosed, but cftd is the most suspected cause of her weakness and respiratory failure.
Congenital fiber type size disproportion is a genetic disease. Muscles are made up of two different types of cells called fibers. You have long fibers and short fibers working together to produce movement. In Bekah's case, one of these fiber types is too small so the muscles can't work. It is a very rare condition with a wide variety of presentations and outcomes. Some kids with cftd play soccer, some are chair bound. Some improve, others do not. There's no telling what the future holds for Bekah, no way of knowing what life will be like for.
In the meantime, it is enough to know that she is happy and comfortable.
