To our dearest friends-
If you are receiving this letter, it is because you are family we consider to be our friends, friends who are more like our family. (However, family, many more emails are headed your way)
It has been only been a week since we received Henry's heartbreaking diagnosis of Pitt Hopkins, a mutation in the 18th chromosome characterized by physical delays, severe intellectual disability and lack of speech. As you know, we never gave up hope that Henry would learn to walk and talk and develop and we never gave up trying to help him in whatever way possible. With a diagnosis, we now know the reason for all of Henry's challenges and we also now have a new purpose.
If you are on this list you are part of our inner circle, our true friends, and that means you are going to find your way onto multiple email lists in the coming months as we launch our fundraising push. I'll be sending this email wider in the coming days, but first I wanted to send it to you with an enormous, heartfelt thank you attached. You are the people who supported us so when we didn't have a diagnosis but were traveling a difficult path. You are also the people who have made the last week easier with your support, thoughts, love and prayers. For all of this, we are so very grateful. Thank you. When I think about the stress, fear and sadness that we have experienced over the last five years and with this diagnosis, I can't help but think of the kindness and love you all brought to our family. Without all of you I can't even imagine how we would've gotten through this difficult time.
However, now that we finally know the diagnosis at least we have a specific goal: To make Henry the highest functioning Pitt Hopkins kid ever.
That's where Peter and I are hoping you might be able to help.
As I write this, there are clinical trials going on to reverse the symptoms of intellectual genetic disabilities such as Fragile X (the most common cause of mental retardation) and Angelman’s Disease (another orphan disease similar to Pitt Hopkins.) That's right. There is significant promise that some of these syndromes-or at least some of the symptoms— can be reversed.
My hope is that we can convince researchers to turn their inspiring work to Pitt Hopkins. Because the single gene that causes Pitt Hopkins has been identified -- TCF4 on the 18th Chromosome -- chances are good they could find a cure, not only in our lifetime, but perhaps even in the next decade. A cure that could directly help Henry and many other kids, not just with Pitt Hopkins, but with other genetic mutations as well. Indeed, in other syndromes similar to this they are already working on some very promising treatments.
Fortunately for us, another family has already done much of the legwork to secure researchers and some funding to begin this process.
This family was able to convince the mentor of the scientist doing Angelman's clinical trials in Florida, a pioneer who’s done some incredible, ground-breaking work with Angelman’s, to turn his treatment research to Pitt Hopkins. See the article below regarding their incredible efforts:
In fact, Dr. Sweatt's research into Pitt-Hopkins is important not only to families like mine with a child who has Pitt Hopkins or other similar genetic conditions. As part of his research, he is specifically looking at the autism-like aspects of Pitt Hopkins (as Pitt-Hopkins is considered an autism spectrum disorder as well) as it may lead to insights into the molecular neurobiology underlying the broader spectrum of autistic disorders. The hope is that any potential drug treatments that improve autism-like behaviors in the Pitt Hopkins mice might also be useful to consider for possible use with other autism spectrum disorders. So, although there are few children currently diagnosed with Pitt Hopkins, the potential impact of finding a cure could improve the lives of many, many more.
Now’s here the rub -- to really make a difference, we need to raise 1 million dollars to fund the kind of large-scale trials that can lead directly to a cure. We realize it is daunting — but the research is tiered so that all of the money doesn’t need to be raised at once .
However, to help Henry there is no challenge that we wouldn’t take on. And we hope that you feel the same way. Because it is only together that we are going to be able to make this dream — to develop a treatment for Pitt Hopkins in our a lifetime — a reality.
This kind of grass roots effort can work. Thanks to involvement of dedicated parents and families, the first Angelman’s trials are about to launch in Tampa, treating children with a drug that actually reversed the symptoms in mice!
Its a huge ray of hope for these kids, but because Pitt Hopkins is a newer disease, without nearly as much backing, it's up to us to get this ball really rolling. With less than 200 people diagnosed, this isn't a disease with tons of other people who are going to the dirty work. It's truly up to us.
We love you all very much and thank you for all your support — past, present and future.
Love,
Peter, Nicole, Parker, Thomas and Henry
If you would like to donate simply click here:
You can also visit my website at www.nicolelenzenphotography.com and
click on "hope for henry" for more information and the donation link.
For more on last year’s LA TIMES article about Fragile X.
Also, please feel free to forward to any fabulously wealthy people you know :) Or anyone who might be interested. And if you can't give, just keep sending those warm thoughts. Do what you can. We are so grateful for anything and everything.
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