BENEFITING: Charities Aid Foundation America
John Bellis wrote -
Hi friends and family,
In October 2015, we found out that our daughter, Siena, was diagnosed with an extremely rare genetic disorder called Kleefstra Syndrome (KS). It’s so rare, in fact, that the pool of diagnosed people numbers less than three hundred in the world, ever. It can only be formally diagnosed by a really expensive genetic test that didn’t even exist before the late 90’s. That pool of diagnosed people is so small, and the problems related to the disorder are so varied and extreme, that the diagnosis was terrifying. If she’d been diagnosed with a more common genetic disorder like Down Syndrome, we would have had some kind of roadmap with which to plan the future. With Kleefstra, we don’t know, exactly, how the disorder will manifest.
Kleefstra Syndrome is a difficult syndrome that involves lifelong intellectual disabilities, as well as speech impairments and various other neurological/mental and physical abnormalities (including heart defects, kidney/urological defects, respiratory infections and seizures), and, in puberty, development for KS kids can cause terrible sleep problems, psychotic breaks, severe depression, and even schizophrenia.
Siena’s diagnosis has made planning for the future difficult. We can plan for the short term, but her needs in terms of the long term future are impossible to anticipate. She has intellectual and physical developmental delays and requires multiple weekly therapies (speech, physical, and occupational) just so that she might be able to someday speak and develop more finely tuned motor skills. There are no known cases of KS kids or adults living independently – all require lifelong care and cannot function in simple tasks we often take for granted.
In June, I went to a conference in Boston sponsored by Genespark.org, a charitable group founded to work with scientists attempting to create a treatment for Kleefstra and other, similar, genetic disorders. Kleefstra is a problem with the ninth chromosome and a gene called EHMT1. In two separate studies, done on mice and fruit flies, reintroducing EHMT1 caused a full recovery, in both the mice and flies, of intellectual capability and the issues that cause further mental and developmental problems. Due to recent advances in genetics, a strategy for the treatment has been developed in potential treatments soon going to human trials for ALS, and a syndrome similar, genetically, to Kleefstra, called Kabuki Syndrome. In hearing about a group working on a treatment for a genetic disorder when we got Siena’s diagnosis, I was skeptical. As we communicated with Genespark.org, I became a little more hopeful about a treatment, but it was tempered by information about Kleefstra that was intimidating. I went to the conference mostly to meet other Kleefstra parents to maybe get some tips for Siena, and to get an idea of what we might have to anticipate, as Siena grows older. After the scientists spoke, though, I came away from the conference more hopeful than I could have imagined. I feel as though I kind of need to tuck the hope away, a little, while we address Siena’s day to day issues. I think that if we can’t hope and work towards something better in the future, the day to day issues are probably going to pile up and bury us.
Right now, Siena is a happy, healthy child, who has the same issues as most kids, and many extras we’re trying our best to navigate. But, I think that its every parent’s job to try to keep their kids from unnecessary pain and suffering, and, for Siena, I feel like helping push for a treatment has become a part of my parental obligations.
Genespark.org is sponsoring three clinical trials, two of which are funded, but Genespark.org needs additional funding and we wanted to ask if you could help us fund the research. We’re going to do a virtual walk-a-thon, in coordination with Genespark.org, in September. I hope that you’ll help contribute to the cause and take a look at Genespark.org, to see what’s happening. The research that’s being done is cutting edge and fascinating, with scientists from Harvard, MIT, Norway, and Canada, and if you think that you don’t want to throw your money away on a pipe dream, take a look at the scientists working with us. They wouldn’t put their names behind something impossible to achieve.
I hope you’ll join us. Anything you can give would be much appreciated.
Thanks from John, Ludmila, and Siena!
Check out Genespark.org:
Check out the research: