In October of 2007 we got a phone call, the test for Rett Syndrome came back positive and the doctor thought that we should make a follow up appointment to talk about what that meant. I googled it, that was a bad idea. There wasn’t much good, mostly stuff on how to live with it. When we met with the doctors they used a lot of carefully placed words but the gist of the conversation was: you’re screwed. Your daughter is just going to get worse, there is no treatment, we don’t know much, we are so sorry. In those very very dark hours I would have given anything for the slightest glimmer of hope, anything to just take the edge off and have a little bit more of my daughter. Years have come and gone, I’ve yelled at God, smashed my china with a hammer and tried my best to accept Claire for who she is, rett syndrome and all.
Then, on an otherwise normal Thursday I saw something random on Facebook. I read that the trial for IGF-1, the compound that I’m trying to not be too hopeful about isn’t full. I try to protect myself, focus on daily life as it is, but it is undeniable that research is moving forward and there is a lot of promise in that. So much promise that I have even been begging for money to help fund these very important projects. Now to find out the thing that is holding back progress is participation. WHAT!?!?THEWHAT?!?!!! Yes, we now live in a day and age where there are clinical trials for Rett Syndrome, trials for compounds that were very successful in lab mice. We might very well be about to live in a day where families receive a diagnosis and then hear, this is what can be done as an intervention, this medication will allow for better brain function.
While we are not there yet we are closer than ever. I completely understand that this IGF-1 might not be the end all. I am aware that doctors learn by practicing, it’s at the core of what they do. They need 30 families to trek over and over to Boston to participate as little test subject and so far they have 12. That’s less than 20 girls between now and what might lead to the understanding that will pave the way for a medical intervention to Rett Syndrome. I sent in our application today. It will take a huge sacrifice to take part in this trial. If we are selected there will be 7 trips to Boston and 42 nights in hotels in less than a year. This will be costly and exhausting. I tried to tell myself that it would be too hard, that the risk was too great. The fact of the matter is that not enrolling is the more costly option. I asked Claire about this, explained the shots twice a day, all of the travel and testing. She responded with a look that clearly said, “why wouldn’t we try mom, I hate living like this” So with that I filled out the papers and sent them off to Boston, now we wait.
If you have a daughter with Rett Syndrome between the ages of 5-10 you can click here to learn more about the IGF-1 trial and how to apply. If you have a daughter that is 16-45 there is a study of NNZ-2566 that is also looking for participants and looks very promising, you can click here for details on it. We are so fortunate to be at a place in history where medical interventions are being worked on but they really need your help to do it.
Here is a link to FAQ’s about the IGF-1 study
Colleen English 
Where there is a will, there is a way. We are signed up for the trial in Texas. I live in Massachusetts and the trial just got extended by two weeks. I had to choose, stay in Texas or not go because I could never subject Katelin or myself to that much travelling to go back and forth. So stay in Texas it is. 7 weeks is nothing compared to the rest of a life. Please participate if you are able. Not only are our girls counting on us, there are children yet unborn who won’t have to suffer if we can find the cure, or at least effective treatment. They don’t know it, of course, but they’re counting on us!
Thank you for going all the way to Texas and staying for us and all the others! Thank you for stepping up and starting the trend, it’s true the time involved in the study is nothing compared to a life with Rett. xx
We applied when Elizabeth was 3 before they changed the age limit. If they still need families when she turns in May, you better believe I will be re-applying. Maybe see if you can find a host family? My family lives there so it would be slightly less costly, but maybe someone will be willing to host your family instead of a hotel or just live it up in Boston for 42 days;) see you soon!
Carrie, I can’t imagine how hard it would be to not be able to apply but to want to participate. If I have anything to do with it, there’s won’t be a spot for Elizabeth once she’s old enough, maybe by then phase 3 will make it’s way to the West Coast, maybe, anything is possible!
I’m so happy I know you. And get to talk to you sometimes like today. Come live in Iowa already.
I have been losing sleep over making a final decision on this one (among other things lol). I am nervous, excited, scared to death, excited. Oh Colleen, I am so excited you are doing this and you may just be swaying me . . . .hmmmmm xoxoxo
Silvia, you can do it! Just apply, if they accept you then we will figure out the details. Then we can be a little closer to that awesome party when we celebrate getting our girls back. xoxoxo