My name is Jackie Loehlein and I have a 7 year old son with Duchenne Muscular Dystrophy. This is a fatal muscle wasting disease that to date there is no cure for this disease, but there are medications that have been proven to slow down the disease. My son has a mutation called Nonstop codon or Nonsense mutation which means he does not produce the protein dystrophin at all. The medication that is out there right now for his specific mutation is Ataluren, which has shown some improvement. this drug is still in a placebo based trial, and this is the second time in this placebo trial. Alex is a fantastic little boy, he loves to play outside riding his bike, fishing, playing with other kids, and is independent. This disease will eventually take away his ability to walk and do the things he loves, and eventually it will claim his life. If we do not try to give him medications that may help, he will lose his life.
When Alex was 6 he was diagnosed with this terrible disease in August of 2013, he has been progressing rapidly since then. As Alex grew he was having difficulty walking upstairs, running and keeping up with his peers, and getting up from the floor. As a mother I knew something just wasn't right, so, I took him to a pediatric orthopedist at Gillette Children's to see if he had a bone problem, after evaluation, Alex was referred to a Neurologist under the suspicion of a Muscular Dystrophy of some kind. Before we saw his neurologist for an evaluation they ordered genetic testing. The wait for these results took about a month, which was the longest month of my life, searching the internet about different forms of muscular dystrophies hoping that if it had to be one that it would be one that wasn't too bad. finally, we went to the neurologist for the results and consultation. The doctor came into the room and sat down and started explaining the results. I asked if it was Duchenne because of the terms he was speaking I was scared and needed to hear. The doctor looked at me and said yes. I was immediatley devastated because I new the severity of this disease and what the future was for my little boy.
Alex is now on the steroid Prednisone that has terrible side effects, and he takes heart medication to try to prevent further deterioration of his heart muscle, he has to do spirometries on a regular basis to prevent further weakening of his lungs, and he has been suffering from migraines, which we are in the process of an MRI to figure out what is going on with that, since researchers have figured out that the lack of dystrophin also affects the white matter of the brain. For almost 2 years now my family and I have been desperately searching for anything that can help him, slow down the course of this disgusting disease before it is too late. The doctors suggested a drug study called Ataluren which has shown signs of improvement and slow the progression of Alex's mutation. This drug is not FDA approved yet and has been around since 2007.
I sit and pray and hope everyday that they will find a cure, but in the mean time there are drugs that can help slow down the progression until a cure is found. We need these drugs to be approved, it is our only hope right now to buy us time. This diagnosis has been heart wrenching and very depressing knowing the outcome and progression as of today. I look at my little boy and know the future he has to look forward to. It is a race against time and there is not a whole lot of it to waste. Every minute that passes is a minute closer to the inevitable devastation this disease will bestow upon these boys and their families.
No parent should have to watch their child suffer and not be able to help them, and know that there are drugs out there that can help give them time until a cure is found, but will not be approved for years and years. It is cruel and devastating. All we want our boys to do is live and enjoy life.