This morning Andrew had his visit at the Neuromuscular Clinic at Washington University. Unfortunately, we received even more horrific news about our sweet little boy. It's 99.9% certain that Andrew has Duchenne Muscular Dystrophy. The next step is to have have another blood draw to determine the exact gene mutation. Until we receive those test results, we won't really have a definite path forward. We are more than overwhelmed and distraught beyond belief. Scared too. We are trying to get educated and make sure Andrew is getting everything possible to lead a happy and long life. This is going to be a very long road ahead with a lot to learn, but the longer the better.
What we know so far...DMD has been around for over 100 years and we have found out that 1 in 3,500 male births worldwide result in this diagnosis. Here's a brief synopsis of DMD -
- Definition - One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles.
- Cause - An absence of dystrophin, a protein that helps keep muscle cells intact.
- Onset - Early childhood - about 2 to 6 years.
- Symptoms - Generalized weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders. Calves are often enlarged.
- Progression - DMD eventually affects all voluntary muscles, and the heart and breathing muscles. Most are confined to a wheelchair by age 12. Survival/life expectancy is rare beyond the early 30s.
And, here's a link to a publication that talks about DMD - http://www.mda.org/publications/PDFs/FA-DMD.pdf
We please ask that you continue to keep us in your prayers. We are trying to stay strong and positive, but some days are MUCH harder than others, especially today :( It's hard to look at Andrew right now without tears constantly streaming down our faces. He has no idea what is going on and is still our precious little boy with so much energy, enthusiasm and love for life. It's just so hard to envision things are going to only get worse for him.
4 comments:
Nicole I can't even imagine what you are feeling right now. Please know that you are in my prayers daily.
We are in shock and our hearts ache for you both and for Andrew. We love you so much and are here for you always. Andrew is a beautiful boy and he will no doubt change the lives of everyone who loves him for the better. We will pray everyday that God gives you the strength you need to handle all that He has given you. Love, Marie & John
This is shocking news! Please know that there are many people who want to help...call upon us. We will do whatever is the right and prudent thing to do to make each and every day the joy Andrew deserves. He is as precious as you describe and he has parents who both are COURAGEOUS and WISE. As I continue to say "your" prayer daily, I know that God loves Andrew's parents because there is so much to love and admire. Please take care of yourselves, stay STRONG and allow us to assist in keeping Andrew the happy and fun-loving person he is today. Love, Mike and Sue
Nicole and Steve,
My mom shared your news with us and turned me on to your blog. We are so very sorry to hear about the challenges you both and Andrew face ahead. I pray that you will all receive the strength, courage and grace you need. We have friends in St. Louis who have a little boy with DMD. Let me know if you would like me to reach out to them and ask for any resources or support groups they have found helpful that I can pass along to you (or let me know if you'd like me to connect you directly with them). Love, Michelle (Groner) Pierceall
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