After thirteen years, we finally know why London's mother died in childbirth. Lack of knowledge for this very rare syndrome called Ehlers - Danlos by most physcians results in multiple lives lost due to it. Most people who have Ehlers - Danlos or better known to families as EDS are usually classified as circus freaks because of their ability to maneuver their bodies in weird proportions. There are several types of EDS, unfortunately for London, he was diagnosed with one of the rarest forms which affects 1 in 200,000 people. It is very life-threatening as it was in his mothers case and causes spontaneous ruptures of pretty much every part of the body. Death usually occurs due to an aneurysm or dissection and If the family is lucky enough to have a doctor familiar with the syndrome, identified and tested.
We found out that London tested positive on his mothers birthday April of 2009 after London had another rare disorder called Elastins Perforans Serpiginosa (click to see pics) form on his neck like in the case of his mother. When London started having these rings form on his neck, I was very familiar with it. I started doing research on it and found the perfect picture of it on the internet. I read that it was associated with Ehlers-Danlos type IV. When I read what that was; It described my sister to a T including the clubfeet. Then and there I knew I was on the right track. Finally, I found the answer to the problems he has also faced all these years. London has been diagnosed with three rare disorders this year.
The only child out of four who loves sports and being outside was suddenly told by his treating physicians that the sun is not his friend and that he is not to play sports at all unless it is at home with our children; not in a group setting. This has been very hard on London physically and mentally. I have met the nicest families in the support groups online. We tend to lean on each other a little better and closer than friends or families. We give advice and suggestions that even our doctors can't. I can not tell you how hard this has been for me; It is my goal to save my son! To hear that some of these people have lost their children due to doing cannon balls in the swimming pool is mind boggling. Why does my son have to be missing the glue that keeps him together?
London is a quiet thirteen year old boy most of the time and tends to sit on the side lines now. He watches what he does now and has learned to think differently before reacting to certain situations. He is often seen wearing shirts with collars to hide the deformity on his neck so people will stop asking him what it is. His favorite hobby use to be skateboarding, but due to this diagnosis he was quick to give it up even though he still loves to watch others skate at the park, read the magazines and wear the clothes. London hope he can play drums this year in school. He will not be able to play the larger ones because of this syndrome due to the weight. He is not to lift heavy objects or do things that may make his body hyperextend or dislocate. London and his siblings enjoy riding in our pasture on their motorcycles and four wheelers; this is another past time he has pretty much given up unless he is in the mood to ride really slow.
I am lucky enough to still get to see my sister every day when I look at London. It is so neat how DNA plays a role in our being. Not only did Kim pass away before ever getting to see or hold London; they act exactly alike. In a weird way; I get to grow up with my sister all over again. I really want to thank everyone who is helping us raise awareness about Ehlers - Danlos and help us raise the funds needed for this very important mouse model project. I can not bare to go through that pain again and If it is in my power; I won't.
London had his first bowel rupture on Jan. 22, 2011 and had it repaired completely In July. Dr. Kays did a wonderful job with London and certainly made me feel so good that he said the team would watch the EDS video together for emergency situations. He is doing well, bathroom trips are more often with the large bowel removed. London is in the 9th grade this year and has started his Health Academy program to be a dental aide. What great opportunities these kids have at this high school. I hope this will be a great year for him, he will be 16 in March......wow!