Will has a translocation of the 9th chromosome! There are only about 30 reported cases of this, ever! It's much more rare than we ever imagined.
Soon after Will's birth we begin to find problems. The first problem, while small, lead to the discovery of all the other problems. He didn't suck well. Upon closer examination, Will was found to have a heart murmur. In a few days we transferred to University of Mississippi Medical Center where our whole world changed.
Will was found to have a very serious heart defect. This defect was repaired completely when he was 5 months old. We traveled to Children's Hospital of Philadelphia (CHOP). We had the worlds best heart surgeon for this defect - tetralogy of fellot. His heart is in great shape. You can hardly see his scar!
Had Will not had the problems sucking, his heart defect may not have been discovered until he was critically ill and in need of emergency surgery.
We've since been to a feeding clinic in Richmond, VA. We spent 8 weeks there learning how to eat.
Will has a number of congenital anomalies that all seemed to lead to a genetic syndrome. After 6 1/2 years of looking and suspecting various syndromes beginning with Pierre Robin Syndrome and ending with Beal Syndrome, we now know what the problem is.
Will has a translocation of the 9th chromosome to the 11th chromosome. Basically part of his 9th chromosome is duplicated on the 11th chromosome. This is so rare it doesn't have a name. There are only about 30 people known to have this. Will's 1st cousin also has this, which means that Marvin and his sister have a "balanced" translocation of the 9th chromosome. Which means that some of the chromosomes are sort of mixed up, but not missing. They actually have the right number of puzzle pieces, but they are not all in the right place. There are no problems associated with this mix up. Thankully! We know that it comes from their mom because she has a nephew with this same thing as Will and Christen. That means she and her sister are also carriers like Marvin and Donna. This translocation doesn't cause a problem if you have all of your puzzle pieces. However, if you have an extra piece, like Will does, there are problems.
A "carrier", which is what our geneticist calls Marvin, has about a 40% chance of having a child with "normal" chromosomes. He has a 40% chance of having a child with a "carrier", like he is. He also has a 10-20% chance of having a child like Will. Of those 10-20% they are very likely to miscarry. Marvin's mom and sister both had miscarriages. It just depends on how well the baby is able to tolerate the genetic mix ups. Will, apparently, tolerated it very well. We had a wonderful pregnancy.
With all of this, it just confirms what we've always thought, God has a big plan for this little boy! The likelihood of him having been born was so small! He has sure taught us a lot both about God and people!
Because this is so rare, we're sort of blazing our own trail! For us there is no guide book or instructions. There aren't support groups for kids like these, because there just aren't any kids like Will, none that we've been able to locate anyway.
In the mean time, many kids were tested for Beals Syndrome, thanks to Will and his geneticist. This test was not being done commercially until Will's doctor asked for it and got it.
We've seen many miracles in Will's young life! He does walk with the assistance of a walker. He is learning to communicate with a very complex communication device. ( Since Will's spinal fission, he has stopped being able to use his walker, but is very mobile in his wheelchair. After pouring a Coke on his communicator, he now uses an iPad with a communication app) He is eating better than he ever has and is healthy now! We are blessed to call him our son! We are grateful for all of the prayers that have been voiced for this sweet boy!
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