Hi! My name is Amy Barnett and I am the mother of 2 precious children named Nathan and Lily. Both of them have a genetic disease called Spinal Muscular Atrophy type I or also known as Werdnig-Hoffman disease. The prognosis isn't good, 80% of children with type I (there are other types that are less severe) die by the age of one, and 90% by the age of 2. The average age of death is 7 months old caused by respiratory failure and complications of pneumonia. 1 in 40 people carry the gene and 1 out of every 6,000 live births result in Spinal Muscular Atrophy or SMA. SMA is also the number 1 genetic killer for children under the age of 2. Surprised? So was I when Nathan was first diagnosed.
Nathan was my first child so I was unable to realize a problem was there when he was not moving like he should have been at his age. By his 2 month well child checkup his doctor was concerned over the lack of movement and sent us for tests. Shortly after this he developed a cold which became pneumonia and by the age of 3 months he was in the hospital, intubated because of respiratory failure. The day he passed away we got the official diagnosis of SMA, that was November 12, 1998.
Because of the risks of passing this onto another child (1 in 4 chance) we did not take lightly to having another child but in 2001 we decided we were ready to try again so here came Lily. We had a prenatal CVS test done to tell us if she had SMA and it came back negative but after birth we began noticing similar signs that Nathan had so we went back for another test and that came back positive for SMA.
We had been on the internet since the winter Nathan had passed away and I found SMA support groups where I could share my thoughts and feelings. When we found out about Lily I wrote about what we were going through and that we wanted to hear from parents with living SMA children. The emails came pouring in from families just like us living with SMA daily. We began talking with these families about what they do and we began educating ourselves about SMA and our alternatives. What we found out is that we do have choices but no doctor had ever told us that. We were told when Nathan was in the hospital that we could trach Nathan but that he wouldn't live but for maybe a few more months but here we were talking with families who's children were living past their diagnosis' and without trachs. We began educating ourselves as to what to expect, what to do, and who to talk to and the one doctor that everyone kept telling us to see was Dr. John Bach in Newark, New Jersey. We contacted him and made our appointment.
We were thrilled that we had choices but were shocked that no doctors had ever told us about them. We began seeing the round of doctors and realized they had one thing in common, they didn't like or agree with Dr. Bach. Our appointment went fine and Dr. Bach showed us all the machines, and told us what to expect. We had a lot to learn in a short amount of time but we slowly began becoming familiar with it all.
We became very proactive with Lily to keep her healthy and so far it has all worked. Some days are harder than others and we have done a lot of changing in the past year but when I see her smile I realize it is all worth it. She has already passed 3 milestones, the 7 month mark, the 1 year mark and the 3 year mark and we are certain she will continue to pass them all and do well.
We are filled with hope for a cure in the future but we need your help.
There are so many kids everyday diagnosed with this disease that do not have the information we have. So many hospitals, doctors, and specialists do not offer choices, they tell these families to take their babies home and let them go. I feel that is wrong! What is so wrong with giving the families choices and letting them make an educated decision. It is not the doctors/specialists/hospitals job to play "God" but to help people in need. We need people to stand up to the medical field and let them know! Please join me in this! My child deserves a chance to live just like everyone else.
If you are in the Medical Field and reading this please do the right thing in giving parents choices. I have listed a phone number, email address, and physical address for newly diagnosed parents of children to contact me. The ball is in your court, do the right thing even if you do not agree with what we are doing with our child it is OUR CHILD AND OUR CHOICE.