What a week. I knew when I looked at the calendar that when I was done with this week I would likely need to sleep for 3 days straight.
I was able to attend a conference called Genetic Diseases of Children Advancing Research & Care in NYC this week. First of all I have not commuted to NYC in rush hour for almost 8 years now, so I knew that alone would be exhausting but I must say I handled it well and didn't look too much like a newbie. I even took the subway. I was very proud to act like a seasoned New Yorker for 2 days. Seriously though this conference was really eye opening to me. We are often told that SMA is a rare disease but a common rare disease. After being at this conference I really learned what the term Rare Disease means. There are people who have kids where there are only 5 other kids in the United States with their disease. There was a woman who had the only child in the Caribbean with a certain disease. Talk about grassroots efforts, imagine that not only has the general population never even heard of the disease that your child has but also there are not that many people who have it. These people are getting very little support, very little advocacy and there is very little research being done to find a treatment or cure. Most of these other rare diseases I learned about are degenerative and fatal and about 90% of the mom's I met had a normal pregnancy just like I did. Believe me not that SMA is a picnic, it certainly is not, but sometimes with the right respiratory care and nutrition our kids live longer than expected. Plus I always feel so lucky that I have been able to connect with so many other families who have SMA children. I don't know what I would have done without that support. The conference was attended by Grassroots Leaders, NIH, NINDS and some of the leading researchers and clinicians in the Genetics field.
One of the major topics that was discussed was Newborn Screening and how this could help in the treatment of a Rare Disease. The Clinicians and Researchers want Newborn Screening to occur because in many cases when a proposed treatment is given at an early stage of life they feel (this is not fact or absolute) that the chance of treatment or cure would be better. The Parents at the conference want Newborn Screening so that they can possible start intervening or caring for the child sooner and not at the time of a crisis. The Government does not want to expand Newborn Screening. Why? Well in my opinion the almighty dollar comes to play and really at the end of the day is the main reason. The Government states that you should not use Newborn Screening for a disease that cannot be treated or cured. Hello, Government I would have liked to have known that my son had a deadly disease. Would it have hurt me, yes. Would it have made me upset and angry, yes. But it would have better prepared me for things instead of feeling like I was run over by a train and then hit by a bus. The Government went on to say that there are some parents who feel their rights will be violated with Newborn Screening. I respect that and understand that but you know what Government, have those people sign a waiver that they do not want Newborn Screening for their child. I think that is fair, but it should be my liberty and my right to have the choice to know. Just my two cents.
Anyway, I sat through some very interesting panels. My friends Hamilton Cain and Ellen Goldstein were on panels so I was lucky to see them. I was also happy to spend some time with Cynthia Joyce from the SMA Foundation and Spencer Perlman from FSMA. I also spent some one on one time with Dr. Brian Kaspar who is a leading researcher in the SMA field and had a crash course on Gene Therapy. I appreciated his insight and honesty with regards to his program which by the way is very exciting. While at the conference I attended a lunch where the keynote speaker was NFL Hall of Famer, Jim Kelly. I am a huge football fan. As a kid on Sunday we watched Football. There were no 1000 channels of Fios or Direct TV. Sundays were for football. Jim Kelly was an offensive guru. He ran something called the K Gun offense which was a no huddle offense and the Bills were probably one of the best offensive teams under his leadership. I did know that he and his wife had a son who had a rare disease and had passed away. His keynote speech was amazing and inspiring. I mean here is this NFL Hall of Famer who went through similar day to day things I have gone through. Jim and his wife started a foundation in honor of their son called Hunter's Hope. Check it out if you can. http://www.huntershope.org/. Here is the link to the conference I attended.
www.wadsworth.org/events/genetics/index.php
Ok, so after two days of trying to figure out what a genome is....I had to prepare for a day trip to Albany to rally against the proposed budget cuts by Governor Cuomo for 4201 schools. Dylan's school, The Henry Viscardi School, falls under this category of being one of eleven 4201 schools. I drove up to Albany with my friend Lisa (thank you so much for driving both ways). Lisa also has a daughter who attends The Henry Viscardi School and we are on the SEPTA Board together. The rally was attended by about 1000 people. It was really amazing to be there. I have never participated in anything quite like it. Listening to all of the stories of the children and adults who have attended the 4201 Schools and how it has had a difference in their lives was heartwarming to me. I want the same for Dylan. I want him to be in a place that he feels like everyone else. That place is the Henry Viscardi School. If you have time, please send Gov Cuomo an email at the following link and tell him NOT to cut funding for 4201 Schools. http://www.governor.ny.gov/contact/GovernorContactForm.php
This weekend Team FSMA is running in the NYC Half Marathon. The Erwin Family always organizes this event and does a fabulous job. They have already raised over $20,000!!! If you would like to make a donation please use this link www.fsma.org/nychalfmarathon.
Dylan has been battling an ear infection/virus all week and now I am a bit under the weather. This winter has been a rough one. Glad it is almost over. Praying for all the sick kids out there to get better.
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