Dear Friends,

This is the hardest letter I’ve ever had to write.

A few months ago, at 3 years 3 months, our daughter Hannah began to change. She went from being able to speak in five word sentences down to a few one-word utterances. She stopped walking up and down the stairs, would stand frozen at the top and cry, afraid to move.  She stopped jumping on her trampoline. She lost the ability to feed herself with a fork, to open doors or do many of the things she previously could do with her hands, instead wringing them constantly.  She started to lean when standing. She began to gag and cough when she ate and had trouble swallowing.  She lost four pounds.  She also started to involuntarily hyperventilate and then hold her breath. This cycle would repeat all day long. 

Then one morning her arm started shaking and she collapsed to the ground.   We took Hannah to the emergency room.

In the early days of her regression, I was hoping that Hannah just didn’t want to do certain things so I tried to push her along.  She would get upset.  One day I saw a look of fear and pleading in her eyes that I will never forget as long as I live. After a great deal of effort to form the word she said, “trying.”

At the hospital they told me she might have Rett Syndrome.   All I could say was, “No. That’s a bad one. She can’t have that.” Several weeks later a blood test confirmed her diagnosis.

Rett Syndrome is a childhood onset disorder.   In scientific circles, it is referred to as an orphan disease because it only occurs in 1 out of 10,000 female births, and consequently gets little notice and little funding.  But it should.

They told me that from this point on I could expect Hannah to decline.  More than half of the girls with Rett Syndrome live in wheelchairs, most have seizures, almost all with no purposeful use of their hands, most have feeding tubes, are unable to speak, and are cognitively impaired to some degree, although impossible to test as they can’t speak or point.   They live their lives bound and gagged.  That is the painful, turn your head away, it’s too hard to look at or imagine truth.

When I heard the diagnosis, my gut reaction was that I needed to plan a funeral. Hannah’s heart would still beat, but would she really be living? I wanted to bury my head in the sand, but I couldn’t.  My little girl was suffering and I needed to help her. The next day we ramped up Hannah’s therapy program, trying our best to prevent further decline and to help her regain the skills she had lost.

Right now Hannah is one of the lucky ones.  She can still walk and say some words.  But every night I go to sleep thinking, “How many words will Hannah have tomorrow? How many times will she collapse? Will she be able to chew and swallow her food? Will she begin to have seizures and lose everything?”

While this is a devastating diagnosis, there is tremendous hope for a cure.   Previously thought to be a degenerative, incurable disease, it has recently been proven that Rett Syndrome is reversible. Last year, Rett Syndrome was reversed in mouse models of the disease.  Thomas Insel, M.D., Director, National Institute of Mental health, NIH reported, “The recent rescue experiments are truly remarkable, as they suggest that therapeutics could be important in reversing the symptoms of Rett and other neurodevelopment disorders.” 

The hard part is getting from lab work to human trials.  As I have learned in eight short weeks, early drug discovery and preclinical development is extremely difficult to finance through bureaucratic government funding and risk averse pharmaceutical and biotech companies. The opportunity for change lies within the private community.

The scientific efforts underway in the Rett research community are truly remarkable and groundbreaking. Rett Syndrome is positioned to be the first neurological disorder to be cured in history.  What an amazing thing to be a part of.

So I’m asking you to please consider making a donation to the Rett Syndrome Research Trust. I know we are in difficult economic times, but I have to ask anyway.  It’s a non-profit that's funding incredible, groundbreaking research to help Hannah and the other children suffering from this horrific disease.  Through this web site you can read how your donation will be immediately invested to support five cutting-edge projects; the next step towards reversing Rett Syndrome in people. You can mail a check or you can donate online.  RSRT is a 501(c)(3) non-profit organization.

Many, many thanks for taking the time to read my letter.  Jonathan and I thank you in advance for any donation you can give.  If you know any individual, organization or business that might be interested in getting involved, please forward my letter along, or send me an address and I will follow up. 

With deepest gratitude and love,

Heidi Epstein