Angelman Syndrome, the Families Amaze Me

Every time I have been at an event, with children and adults who have Angelman Syndrome, I am amazed by the level of compassion displayed. It could be anything from the Walkathons to other, smaller events, but the power of these families has lifted me up during my darkest of hours. Angels, as we all know, require around the clock, 24/7 care, and even though this is necessary, they have the heart of champions. Their parents, grandparents, and friends do too. Even with this economy, cut services that all have to contend with, there is a "can do attitude," that inspires so many. Twenty years ago the Angelman Syndrome Foundation at www.angelman.org was created, and what was once impossible, is now closer to reality than ever before. A cure or at least therapies that can help angels.

When the time comes, let's hope, let's pray, that the work of doctors and researchers around the world, can make this event happen. It doesn't matter what organization you belong to, that is involved in this effort, as everyone has their "pair of jeans" that they are most comfortable in. Rather what does, is supporting each other, giving researchers and others who knew our help, their support. A lot of them right now are working hard, and they specifically want, all of the enthusiasm that can be garnered, to be written to them, to folks in the pharmaceutical field, on social media, along with the conventional media that is still powerful. If that passion is lost, the work of a small group of people that over the years is simply unbelievable, do you really want it to go on the backburner?

I do not. We should not. Each and everyone of us, should be supporting each other, angel families, and also at the same time showing the passion that we have in a professional manner. We owe it to the children and adults who have this condition. It is imperative, now more than ever, as we get closer to these discoveries, to band together, and show the collective understanding that researchers and those working hard for a cure, need to see that we are walking hand in hand with them. The same goes for pharmaceutical groups, science based institutions, and your local representatives. They have got to constantly hear "Angelman Syndrome," until they all have discovered what this condition is, and are on board with us all. Angelman Syndrome is a condition that leads to loving people, and may we be more like them.

Tommy's Death Certificate-Seizure, Cardiac Arrest, Angelman Syndrome

I cannot look at my son's death certificate. It is far too painful, and it is tucked away in a closet, that is not used very often. While I do visit his grave, along with my family, and his rock memorial that was placed at his school, this piece of paper just opens up floodgates of emotion. Is his passing accepted? Yes, as much as it hurts, he certainly is with God, and a whole bunch of hearts, whether it be family, friends, or those who worked with Tommy over the years have been affected. There has been sorrow, but there have been profound acts of kindness, and a new view of life, with a focus on the possibilities. Each day is a blessing, and we must count each as that, even if it does bring the proverbial headaches that, life sometimes throws our way.

Recently, there have been astounding developments, with regards to Angelman Syndrome. Topoisomerase inhihibitors, as Dr. Philpot at the University of North Carolina Chapel Hill, might provide a cure or at the very least therapeutic help to those with this condition. These cancer fighting drugs are FDA approved, and although there have been years of frustration and love at the same time in the Angelman community, now is the time to focus on this. We owe it to our angels, those with us, those in Heaven, to speed up the process and cut through red tape, thus allowing for clinical trials to begin with all haste. It is up to us, the very essence of self-reliance, to make this happen. By showing those who have been involved in the research what this means, along with applying benevolent pressure to those in congress and in other agencies such as the FDA and the U.S. Department of Health and Human Services, we can get the ball rolling. Dr. Jonas Salk's once impossible feat of defeating Polio became possible, let's do the same with Angelman Syndrome.

Everyday, I wake up and try to seek out new possibilities. I do not want another parent of a child with Angelman Syndrome, or anyone for that matter, to go down the dark road of losing their little one. It is at times very lonely, painful, and it cuts right through your soul. Angelman Syndrome has caused so many children, parents, grandparents so much pain, and its a contributing factor to my son's passing. That's right, its personal, and until there is a cure, there must be absolutely no resting on laurels, no complacency, and only advancing this cause until the red tape is cleared away. We owe it to all of those with Angelman Syndrome, and their family and friends, nothing but the best. By contacting those who have been responsible for this research, and those who can expedite the clinical trials, we must give all we have.

Happy Birthday to the Angelman Syndrome Foundation

When the Angelman Syndrome Foundation at www.angelman.org was created, I was learning how to drive a car. Most of the time, this involved my parents, watching out as my sharp right or left turns caused various items in the car to become flying projectiles. 1992 was a fun year, as I had Biology class, of which I spent a good part of it, throwing basketballs made of notebook paper into an empty fish tank, that the teacher couldn't see high above the cabinets. My group of friends and I, defied physics with various stunts in cars that shouldn't have been done, including trying to impress the ladies, with efforts that didn't end up too well but are now quite amusing. Yes, the eye rolling occured even back then, as it does now, and I remember this was around the time that I for the first time saw people with special needs. I was uncomfortable. No, I did not harbor any ill feelings towards them, but our high school was a magnet school, for youth with various intellectual disabilities. I used to avoid these kids, as I just didn't know what to say, what to do, or how to act.

We have come a long way. The same school and the new generation, are incredible. Its night and day difference, and I had my introduction to a child with special needs with Tommy. Yes, receiving the diagnosis of Angelman Syndrome was devastating. It hurt so badly, to hear that I was now the father, of a child that was not going to play baseball, go fishing, or learn to become a history geek that I had so envisioned for him. Yet, I learned a lot from Tommy, and the most important lesson was compassion. He hugged and loved everyone, and its something I've tried to do much more. I miss him very much, as he went to God far too early in 2009, but his legacy lives on. His school was a place of refuge, where the administrators and teachers, everyone there, were passionate about children with intellectual disabilities. Young students, of elementary age "get it," as they are giving up their recess and lunch time, to partner up with kids who have Angelman Syndrome and other conditions. Those were my best subjects, and I am thankful that these young girls and boys are making such sacrifices. I tell them this on a regular basis, and it has been proven, to help so called "mainstream students," work with others who have disabilities.

So how does this correlate,  with the Angelman Syndrome Foundations birthday? Very simply, the ASF is without a doubt the biggest and most influencial organization with regards to this condition. While there are other groups, the ASF's research money, that has been raised with the love and help of parents, friends, and businesses, have just proven that with already FDA approved Cancer fighting drugs, to perhaps having a cure for not only Angelman Syndrome, but a whole host of conditions on the Autism Spectrum and elsewhere. Recently published in Nature, the most respected journal, the Angelman Syndrome Foundation and all of its staff, volunteers, and everyone who has partnered with it, supported it, should be proud of this incredible accomplishment. There has been agony and pain along the way, but just like the ASF has not given up on a cure, we should not either.

The reach of the Angelman Syndrome Foundation is impressive. Worldwide. Yet, what really makes me happy about the ASF, is the walks. These are where I have gone with Tommy, and with him in Heaven, missed but still in my heart. My first one was very painful, as I went with Tommy and my family, and cried nonstop. It hurt so bad, but at the same time, it was reassuring. I saw different generations of angels, and parents who had gone the distance. These pioneers greatly helped a then younger man, understand that I would be able to enjoy Tommy's accomplishments, even though there were certainly hoops to jump through. I am thankful to these parents, along with the ASF's support with IEP's, understanding more what Angelman Syndrome is, and for their passion in not only awareness, but in finding a cure.

I miss Tommy everyday. He lost his life to a seizure, but his legacy must go on. With the Angelman Syndrome Foundation it most certainly does, as I am excited about the upcoming walk this May outside of the D.C./Baltimore area. This year promises to be exciting, with Dr. Philpot's research being released even more, and other efforts by the ASF and other groups, who all want the cure that has been elusive, but is now closer than ever. 2012 promises to be by far the most exciting year for Angelman families, and if you would like to make a tax deductible donation, to the Angelman Syndrome Foundation, simply go to www.angelman.org. Be a part of something good, from the heart, and that is going to both help parents that get that diagnosis and need moral support, along with being on the cutting edge of research that promises to bring new changes to the world as it stands. Happy Birthday to the ASF, to its staff, and to all of the families who have been responsible for its creation. You have touched many hearts, and continue to be an organization, that all can be proud of.

Rocking the Purple: Suck Feizures Ski's 2012

Suck Feizures might sound harsh. Its meant to be. This facebook group, has folks with seizures, people who love someone with them, or has lost a loved one to seizures. It was created December 25, 2010 and has provided help and support to various epilepsy causes, both through awareness, and in generating funds for research. It has had a lot of amazing moments, and so much has been learned, that is hard to place a big star next to one event over the other. Yet this is the year, that we get together and ski. Feb 24-26 2012 is going to be both fun, and a period of reflection at Big Boulder Ski Resort.

"Epilepsy Awareness Weekend" it is, as the resort has been very kind, to help us make this possible. They are going to offer ski lessons, even adaptive ones if necessary, and two days of tubing, skiing, or boarding are going to be a lot of fun. It is a family friendly event, with ice cream socials, arts and crafts,free raffle, days out on the slopes, and of course an adult type of party at the Big Boulder Tavern on Saturday the 25th. Yup, the "red solo cup" from Toby Keith's song, are going to make their appearances. Designated drivers are already in place, so come one, come all, and show your spirit by wearing purple. That's right, the color of epilepsy awareness. It will not only be out at the slopes, but at the hotel, and the Big Boulder Tavern.

If you have any questions about this event, feel free to join "Suck Feizures", and although it might be too late to order the wonderful purple sweatshirts that a kind lady was able to make, its not too late to sign up for the trip. There are a few days left, to get a discount at the Comfort Inn right next to the resort in Whitehaven, PA, and this and the ridiculously low ski rates are due to Carmen, who understands the meaning of "rocking the purple." It is going to be a lot of fun, getting together, and seeing where this next adventure goes. This is about empowering those who have epilepsy or love someone with this condition, as 3% of the general population has this condition. Its time for it to go, and on the tops of the mountains in the Poconos, may that needle towards a cure move just a bit, and continue in that direction from there.

Vanderbilt Kennedy Center Angelman Seizure Research Project: Now is the Time

Dirt placed on my son's grave. Carrying my son in a casket, instead of on my shoulders, down the stairs leading to that place, where he is buried six feet deep. This is sadly not an isolated event, as other children with Angelman Syndrome, have gone to God far too early. Seizures are directly responsible for this, and they must be cured, because it is a moral battle that we are all in the trenches for. The pain of finding your own flesh and blood unresponsive, is beyond any words that can be placed in print, or typed on a computer screen. It is visceral, tearing apart the very essence of your soul, and there are children with Angelman Syndrome right now, who need your help. Angelman Syndrome is caused by a deletion of chromosome 15, and if Tommy was with us right now, he would be seven years old. Yet there are other angels right now, who are loved so very much by their families, in the ICU or having parents stay up all night with them, due to the vicious seizures that must be squashed.

There is a mom, sitting by her child at the hospital, praying that her son is going to somehow stop seizing up, while hospital staff crash teams respond to that room. A Dad is having to call 911, having found his daughter seizing up, and turning blue from a lack of oxygen. Grandparents with their little one that they are so fond of, are thinking "Is this the time?" Enough is enough, as even if an angel survives a seizure, the wiping out of developmental milestones, often years of work, is unacceptable. While most of the time children and adults with Angelman Syndrome do bounce back fairly well after seizures, why should they have to suffer through these? Why should their family members as well?

The Vanderbilt Kennedy Center in Nashville, TN offers hope. There is a Angelman Seizure Research Project that you can help with, by making a donation at http://kc.vanderbilt.edu/site/giving/. It is tax deductible, and by going down to the online giving area, you can just type in "other" Angelman Seizure Research Project. This is led by Dr. Kevin Haas, a neurologist, and several other researchers, including an angel mom who has much compassion and dedication to this endeavor, that deserves much more attention. Are you saying the Vanderbilt Kennedy Center sounds familiar? If so, it might be because you saw Darius Rucker's "Music From the Heart" during the 2011 Country Music Awards. There he performed with children with various conditions, and it was, if you haven't seen it, by all means go to youtube and watch this. You will have tears rolling down your face, but they are of the "good kind."

Children with Angelman Syndrome, are loved by so many. While my boy is no longer with us, I still very much love him, and love all the other children and adults affected by this condition. A simple hug at a walk or out on the town, mean a lot. There are always tears, but they are accompanied by a huge smile. Let's help these hugging, loving souls be free of the seizures that have caused them, and those who love them so much heartache. By donating to the Vanderbilt Kennedy Center's Angelman Seizure Project, you are making the possibilities of a child, not losing their abilities or life, far too early. http://kc.vanderbilt.edu/site/giving/. This is a organization, that you can donate, knowing that you might just save a life. What better cause, can there be than that?