Not only does my beautiful little girl have an incredibly rare and fatal disease of which only a few hundred children have, but we recently found out that her DNA mutation combination (the combination of my bad Gaucher gene and my husband’s bad Gaucher gene) is something that has never been seen before and cannot be found in any documentation in the history of the disease.
What this means for us is that we have no previous patient history to go by to have an idea of what to expect with this disease such as how quickly it will progress, the extent of the neurological decline, etc. We are basically a clean slate with no expectations at this point. In a way, it is not such a bad thing.
This revelation has really opened up the eyes of a few Gaucher specialists around the world including the National Institute of Health (NIH) in Bethesda, the leading research facility in the US. The head of the Gaucher’s department called me and invited us to bring Hannah there to be evaluted (they would cover all expenses including medical and travel).
It was a very exciting prospect for us. Not only would it give us some more insight into Hannah’s disease, pick the brain of another of the leading experts of this disease (Hannah’s current neurologic actually was the head of this program at NIH for many years but left last year), and give the researchers some possibly new insight into this horrible disease.
However, we seemed to have hit a snag now. We are now at the fine line which we have to decide how much we are willing to poke and prod Hannah for them to learn and get their information. There are so many different procedures they want to do, but WE have to decide how much we are willing to let them do to her. There is talk of an EEG, EKG, brain MRI, BAER, audio evaluation, neuroopthalmology evaluation, swallowing evaluation, and more that I just can’t think of right now.
It is a tough position to be in. She is just a baby, only almost 9 months old. She has already gone through so much in her short life. How much should we electively put her through in order to find out more?
I have a call in to our neurologist. He worked there for many years, so hopefully he can give us some insight into what would be helpful and what would be safe.
I’m her mom. I’m supposed to take care of her and protect her and not cause her pain or suffering, even if it is only momentary.