Hannah’s lack of blinking reflex

When we went to see Hannah’s ENT doctor a week or so ago, we were in the elevator on the way down, and one of the doctors going down said “Hey, your daughter doesn’t blink.”   He didn’t say it in a concerned way, just more like he found it somewhat amusing that she kept her eyes wide open the entire way down. 

So I had experimented with her for the rest of the afternoon.  Sure enough, she can go for over 10+ minutes without blinking.  I got tired of watching at that point!  She isn’t having a seizure or anything, as she just goes about her day when this happens, playing with toys, drinking a bottle, taking a walk, etc.  She has no problems interacting and has no changes in her personality when this happens.  We also have no idea when this started because we had never noticed it before!

She will close her eyes if you touch her eyelash, and when she gets tired she will close her eyes (most of the way) to sleep. 

So we shared this at our pediatrician visit, and he was just amazed at this symptom.   So we now give her eye drops a couple of times a day to make sure her eyes are lubricated.

This is where it gets very interesting…

I asked Dr. Sidransky at the NIH about this new symptom, and her response was “That is very interesting and not typical of the eye movements in type 3 GD. It will be interesting to see what our neuro ophthalmologist thinks!

I did some research into this, and you know what disease lack of blinking is a symptom of?   PARKINSON’S DISEASECheck it out, 1st on this list from MedicinePlus Encyclopedia/NIH.  You can NOT tell me that these two diseases do not have a definite commonality of some sort in their disease process!  

Hannah, who has a never-before-seen genetic mutation of neuronopathic Gaucher’s disease, has developed a symptom that is not a symptom of her Gaucher’s disease but IS a symptom of Parkinson’s disease, the very same disease that last week a 10-year-study and a second study solidifed the genetic link between the two diseases

There is a VERY STRONG connection here!!   Something that DESERVES to be looked at!  Hannah and the other GD23 children truly MAY hold a key to understanding Parkinson’s disease, yet we can’t seem to get them to notice! 

NIH Therapeutics for Rare and Neglected Diseases Program

http://rarediseases.info.nih.gov/TRND/

The need and opportunity for Therapeutics for Rare and Neglected Diseases (TRND) are enormous. Of the 7,000 human diseases, fewer than 300 are of interest to the biopharmaceutical industry, due to limited prevalence and/or commercial potential. More than 6,000 of these diseases are rare (defined by the Orphan Drug Act as <200,000 U.S. prevalence), and the remainder are neglected because they affect impoverished or disenfranchised populations. Researchers have now defined the genetic basis of more than 2,000 rare diseases and identified potential drug targets for many rare and neglected diseases (RND).

TRND received $24 million in the National Institutes of Health (NIH) budget for fiscal year 2009. TRND is a collaborative drug discovery and development program with governance and oversight provided by the Office of Rare Diseases Research (ORDR). Program operations will be within the intramural research program adjacent to the NIH Chemical Genomics Center (NCGC) and will be administered by the National Human Genome Research Institute (NHGRI).

 

Frequently Asked Questions
TRND (PDF – 30)
Rare Diseases (PDF – 21KB)
Neglected Diseases (PDF – 36KB)

News

TRND Press Release (PDF – 80KB)

National Institute of Health visit almost set!

We have a date for our NIH visit to meet Dr. Ellen Sidransky and her team, including Dr. Ozlem Goker-Alpan.   July 13th through July 18th. 

We’d have to leave Monday evening since Hannah has her Cerezyme treatment at TCH that morning, and we USUALLY get out of there by 1:00 PM, but after last week’s delay, we didn’t get out of there until 2 PM because the pharmacy was late.  So, we want to make sure we have time to make it.  We would return home that Saturday. 

They had first mentioned keeping Hannah in the hospital during our 5-day visit, but I asked if we could please stay at the Children’s Inn there so we could be more comfortable and have freedom to just move around.  I can’t imagine keeping her cooped up in a hospital crib for five days, especially if she isn’t being treated for anything!

I’m really looking forward to meeting Dr. Sidransky, as I have talked to her on the phone a few times.   She sounds like a very impressive and passionate doctor.  She has been studying GD2 and GD3 for many, many years.  They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg.  Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus.  They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.

As I mentioned before, my aunt and uncle live a block away from the NIH, so we will have family close by, which is great.  Daddy is really disappointed he can’t go, but he just can’t take any more time off of work.  Also, we just can’t afford to bring Abby and Ethan with us (even though me and Hannah would be paid for), so Daddy will stay home with them. 

What is interesting is one week after we get back from the NIH, Hannah will be turning ONE YEAR OLD!  What a milestone we hit!