We live in Blairsville Ga. We have 4 children, Britney, 18, Kelley, 16, Brandon, 10, and Nathan, 8. Brandon is the child that qualifies us for this site. He currently sees Dr Sladky at Emory Childrens Clinic, in Atlanta. Brandon had his first DNA test a few months ago, and no deletions or duplications were found. His neurologist is pretty certain he has DMD, so on to round 2. On Thursday September 4th we got the results, and a deletion mutation was detected in exon 33 and resulted in a premature stop codon. DMD has struck.
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Hi Jim & Melissa,
I talked with Lori last night, and she suggested that we get in touch, so I was excited to see you had added me already. We are in the first stages of this ourselves, having just found out about Jake the Friday before Thanksgiving. So, we're still kind of in shock somewhat, but boy are we ready to come out swinging! LOL. I'd love to talk more about your son, and maybe get together at some point. I understand Blairsville is only a few hours from Knoxville. I hope you all are embarking a very fun weekend and wish you all the best!
How have you been doing the past couple of weeks? I have thought about you often. What is your job situation, are you really considering a move ? How is Brandon doing....have you told him anything really yet ?
I'll be on my back porch praying soon for you guys!
Well if you come here, I am happy to show you Nashville / Vanderbilt and you are welcome to stay with us dine with us. We actually live on the same road as Vanderbilt - just 6 or 7 miles down ...if that.
I know a drive from Georgia here probably isn't something you want to do in a day, and MDA clinic is only on Thursday. Just let us know how we can help if at all. I did just start a group called Middle Tennessee / Vanderbilt. So we shall see who all replies. Also - yes - can you imagine what it would be like going through this with no image of christ or faith in a plan for your life? I'm actually Presbyterian which believes in a pre-destination theology...so I guess I am living out what I was pre-destined for! When I look at the blogs of parents who have multiple children with this...I just sigh out of extreme sadness for them, and praise God for the mercy he gave me. I could have 3...and as we all learn as we get older ...your mind and your heart are your greatest assests ...as gross as it is ...it could be worse. Keep your chin up and then call on your friends to hold it for you if need be!
Sorry for the late reply after your invitation to be friends ...ok we are so from the south aren't we!
As it is only 16 days from your confimred diagnosis I know that you are in shock and depressed. I know I was - plus I had to worry my other 2 boys had the disease. I assume there are no issues with Nathan? Just give yourself some time to "process" ...and then get on to living your life with all 4 of your children even though you know changes are ahead. The best advice we were given from one of our docs - who has actually lost a child in high school to cancer years ago...was "don't get so far ahead of yourself. Take it one day at a time , one month at a time.....looking into the future is pointless. " It will take away energy that you need every day - to just get through the day with 4 kids. " The sooner you can adjust to the disappointment the sooner you can move on to caring for all the members in your family , and believe me, the other 3 siblings will be such a huge blessing to him. I'm not sure what my son would do without his 3 siblings even though there is a huge age difference. I don't know if you are a christian or not - but I will certainly pray for your family during this time of grief. It's just not supposed to turn out like this , but it has. And I would rather deal with it...than it deal with me. Embrace your challenge and move forward as best you can - even if there baby steps!
Hi - thank you for adding us! We live in Gainesville, GA. Our son Will is 5 and he was dianosed just before his second birthday. Thank you for reaching out to us. We have felt so alone in all of this. We are so happy to finally connect with other GA families who even see the same doc.
Hi - Thanks for adding us! Blairsville sure has changed - when I was a kid, we came up from Florida twice a year and went to Trackrock! Anyways, we are on the north side of Atlanta. Going to check out the GA families group as well.