Michelle Ambroe’s Parent Diary, December 2012
It seems unimaginable that we are nearly 5 years into our battle with Lafora. Time trudges along, and moves at somewhat of a different pace than it seemingly does for the rest of the world. Jess is 19 now. It is so difficult to put into words how her life, OUR lives, have changed. I would love to be able to articulate what it feels like to watch your child move backward in time…to see a once bright lively spirit retreat into a world that you would normally only see in an elderly Alzheimer’s patient…to make you understand and feel the indescribable pain when she’s pleading with you to make the seizures and jerking stop, and you can’t…to know SHE knows what’s happening, yet doesn’t understand why she can’t drive or have a boyfriend or go to college like all her friends did. Jess’s story is not unique among those with Lafora; all the other stories you will read on here are all heartbreakingly similar. The pain is, quite simply put, exquisite. And it’s never far away. Because of this, we have all had change the way we view and process the world. If we focus on the sadness and loss, Lafora will win and take all of us. We refuse to let that happen. Yes, it’s extremely difficult and sometimes it’s near impossible not to wallow in self-pity. But at the end of the day, we HAVE to celebrate the tiniest of victories, and it is these moments of triumph I choose to share with you.
Jess’s mutation is among one of the more forgiving and for this we are incredibly grateful. She is still fairly functional, and in nursing terms she is still what I call a “walkie, talkie”. She can and does still walk independently. She requires one- on-one supervision, especially since the atonic (drop) seizures have become more frequent. At any given moment, her body, without warning, will go totally limp; she’s fallen down steps, hit her head, and had countless scrapes, bruises and bumps. Thankfully, we’ve learned from those who came before us and are with her whenever she’s in a situation that could bring harm, which could be something as simple as using the bathroom. However, despite this we are beyond thankful that she is still able to move fairly freely and is not confined to a wheelchair. She still loves to play Wii, and can bowl a mean game, throw a strike, and serve more aces than anybody else in the family!
One of her greatest pleasures is food…she LOVES to eat. It is kind of liberating when everyone else in the world is counting calories and carbs and fat grams. Part of me thinks I’’m a bad Mom for giving her all the junk her heart desires, but on the other hand if it makes her happy, what the heck? In our house, it’s a GREAT day when Jess feeds herself. Most of the time we do have to feed her, but the mere fact we haven’t had to deal with the feeding tubes and swallowing deficits brings us joy. WHEN the day comes that we have to worry more about her weight more than anything else it will be celebratory. Until then…bring on the Buffalo wings and fries.
One of the biggest accomplishments in the past two years has been her graduation from high school. Jess was able to walk with the Ferndale Area High School class of 2012 and receive her diploma alongside the classmates she’s known since kindergarten. Needless to say, there was not a dry eye in the house when her Dad, who’s been a teacher in the school district for 21 years, handed her her diploma to thunderous applause. As a Mom, I don’t think I’ve ever been so proud.
Speaking of school, the students, faculty and community within the Ferndale Area School District continue to provide the most incredible support I’ve ever seen. It humbles me to be in the company of such giving, caring people. The Jess Ambroe Classic hockey game started as a senior project three years ago, and has grown every year becoming a huge fundraiser for Chelsea’s Hope. Led by faculty advisor Josh Motillo, the tournament has blossomed and will include the participation of our NAHL Johnstown Tomahawks (http://johnstowntomahawks.com/) this year. This project has become so popular that hockey players at the high school have signed up to take on the responsibility for the next several years already!
In the past 5 years, much has been learned about Lafora disease. While at a Chelsea’s Hope fundraiser 2 years ago, I had the honor of meeting Dr. Berge Minassian, who is dedicated to curing this monster of a disease. I remember very clearly him telling me that once they understood the disease, they could treat it. That day is drawing near. The work being done in his lab right now has the potential to unlock the doors to a treatment, if not a cure. If you are reading this, YOU have the potential to be part of this lifesaving work. If you can, on behalf of Jess and all those affected, I beg you to donate so this research can come to fruition. Until that day, we will continue to measure quality of life in terms of smiles, hugs and “I love you’s”. We won’t let Lafora won’t take that from us.