Fine Line between Research and Parenting — 5 Minutes for Special Needs

Fine Line between Research and Parenting

by Carrie


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. 

You can read more about our fight for Hannah’s life at (my nickname for her!) or join our Hope for Our Hannah Facebook cause.

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1 MaddyM April 19, 2009 at 1:09 pm

I can only imagine what you are going through. I only hope that there some other parents out there who have a greater understanding who may be able to offer you more helpful advice than I am able to.
Best wishes

2 Alicia April 19, 2009 at 6:42 pm

Wow, what an opportunity. I will pray for you to have discernment to know which tests to run and which not to run. Hope you get some good information.

3 Heidi April 20, 2009 at 12:07 am

That is unbelievably tough. I have thought about this to some extent (but not nearly what you are experiencing). On one hand you want to be helpful to other families like yours, and on the other you want your child just to be your child.

Bless you as you decide what to do.

4 Deana April 20, 2009 at 1:52 am

Hi Carrie,

My son is in a genetic study at NIH for his disease, Methylmalonic Acidemia with Homocysteinuria. We went last year, and are set to go back again in the fall. We stayed at the Children’s Inn while we were there

Like you, I was so nervous about going. He is also a one of one with his disease…the way it manifested in him has not been found before. I knew they would be intrigued by him, and want to try to figure him out. When we got there, we checked into the Inn, and the volunteer who showed us around the Inn was the one to ease my worries first. She got down to my son’s level, and spoke to him the whole time. He’s non-verbal, and yet, she spoke to him as if all of this was just for him.

The check-in process at NIH was simple, then the tests, and meetings with doctors began. It was very tiring, but they were all very aware of that, and of the stress on my son. If we needed to take a break, we took a break. Once they were trying to get a blood draw, and just couldn’t get one. We went to the main clinic where all of our doctors were meeting with us, and asked the nurse what to do, because we didn’t want him to be poked again without a draw. She took him into a quiet room, we got him calmed down, then she gently wrapped him into a sheet while the phlebotomist got the stick he needed.

Yes, they paid for the trip, and everything we needed while we were there. But we left there with more knowledge of our son and his disease. We left knowing that if ever we needed the best of the best to help us in a crisis, we now have it. We left with hope that one day, by being a part of their study, another baby might not have to live with the same disease.

I just wanted to offer my insight as a parent that’s made the same hard decisions. Hope it was helpful, and best of luck with your decision making.

5 MMC April 22, 2009 at 10:57 am

Boy, that has to be a tough one.

But I think if it was me, I might draw the line at invasiveness. EEGs and EKGs aren’t that bad (in my opinion) but I’m pretty sure she would need to be put to sleep for a MRI. Whether or not that would be a problem for you is a personal decision, I guess.

Some of the other tests you’ve listed I’m not familiar with, some I am. But I would look at what was involved in each test. And weigh it in knowing you might well find something to help your child and, if not her, then something that might be beneficial to others down the road.

We all want (some of us demand :) all the information available and to learn about all the various treatments available when our child is diagnosed with something, but the doctors have to get that information from somewhere.

Another thought, she is a little young for this but it would be nice if you could add to the trip and turn it into something she would enjoy. A special place to go or special people to visit. To sort of balance out the rest of it.

Good luck with whatever you decide!

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