Your Child Has Angelman Syndrome

 

 

 

"Your child has Angelman Syndrome." As you sit stunned in a doctor's office or hospital, your world is going to change 180 degrees. Through a Fish test(genetics), or via a clinical diagnosis, hearing these words is going to knock you back in your chair. If you feel as if you can't breathe, or that you've been kicked in the head, you are not alone. Its so shocking to find out that your little boy or girl has this condition, that is caused by a partial deletion of chromosome 15. All of your dreams are thrown out the window, and you will now enter different scenery than you had previously envisioned. My wife and I had that news given to us in 2004, and while our experience took us even further than that, I am pleased that the children and their parents who get this news, now have more resources than ever before.

Its hard to say how many children are born with Angelman Syndrome. Estimates range from the 1 in 10,000 to 1 in 15,000 number. Yet when you add that up, even though the odds may seem high, there are plenty of folks out there with you. You are more likely to hear this news than get hit by lightning, and facebook and other social media groups, have made the world a whole lot smaller since our boy Tommy was diagnosed that fateful day in 2004. Groups like the Angelman Syndrome Foundation(www.angelman.org) along with Foundation for Angelman Syndrome Therapeutics(www.cureangelman.org) are working around the clock for a cure. There are two huge projects, that involve different therapies involving the works of Dr. Philpot at UNC Chapel Hill, and Dr. Weeber at the University of Tampa. These aren't the only ones, but rather the most prominent, and there are other Angelman groups around the world that are working for a cure, and also generating awareness.

At the same time, in lieu of these foundations, there are efforts underway to study AS related seizures at Vanderbilt University's Kennedy Center, and international scientific studies in loads of countries. The chance for a cure improves each day, and while certainly not guaranteed, there are encouraging signs. Research funds are increasing at a rapid rate. Celebrities such as Don Harvey, Dave Henderson, and Colin Farrell have children with Angelman Syndrome. There are probably more. Others in Hollywood are getting behind efforts, and songwriter and American Idol Contestant Reggie Hamm has penned a beautiful book called "Angels and Idols." I fully recommend it, as he and his wife Yolanda, have been phenomenal to the entire Angelman Community. Each year they have a Bella Bash in Nashville, and I hope one day to get a chance to attend this. Here there is a huge concert, and it benefits those with this condition, and it is a huge support to families who contend with AS.

Dealing with a child who has this condition, is not a cakewalk at all. I'm not going to lie to you, as while the devastation of hearing this diagnosis is gut wrenching, there are going to medical issues that you will have to contend with. Yet an angel hug, that makes up for everything. Most angels live a long life, just like any other child on the block. A lot of them can walk, and with improvements in physical therapy and other school programs, the chances for success in that regard are high. My boy Tommy walked, and just like other children, they each have different capabilities compared to other children with the same diagnosis. Yet there is one thing all "angels" share. That is love. I have never seen a person with more love than an angel. Just sit down and look at your angels eyes, or get a hug from a child with Angelman Syndrome, and you will see that it is a spiritual experience.

In 2009 our dreams were crushed as Tommy passed away with a seizure. I often sit by his grave, wishing I could have done some things better. Yet, I have to carry on, and with that, I will not rest on my laurels until a cure is found. For those who have just found out, find refuge in other angel families, and more likely than not, you are close to one. Get involved and find each other. You will find a family that is part of yours, even if the other parents have a different last name. My wife and I are very appreciative of the support we received from other families, organizations working for a cure, and that are helping doctors discover new therapies and ways to contend with the seizures and other health effects related to AS.

There will be tears on your journey, whether its just finding out your child has Angelman Syndrome, that was discovered by Dr. Harry Angelman. Yet there will also be smiles. I promise you that. Angels are fun. True, until a cure is found, they will not be the star on the baseball field, or going to Harvard. Yet, I have had so much fun in swimming pools with angels, and I hope to soon get a chance to ride roller coasters with an angel. Their smiles, laughter, and fearless spirit, is something that I greatly admire. The families you meet, I wouldn't trade them for the world. Phenomenal folks, and I often just sit back in pure awe, even now, at how connected these families are, and also how society is changing for the better with regards to treating all people with the value that each life carries. People are praying for a cure, and doctors and researchers are working around the clock. Some of these researchers have children with AS. Multiple efforts are well established and underway, and one day may your angel, have that cure that they so richly deserve. Until then, shower them with love, and yourselves too, by understanding that the road you have been put upon is different, but you have a lot of fellow travelers along the way with you.