Mathew DiSimas - 19, Boston Massachusetts
Matthew suffers from a form of Progressive Myoclonic Epilepsy known as Lafora Disease. He showed no signs of illness until his 1st seizure at age13. He was an honors student and athlete who enjoyed football, hiking, mountain biking and snow boarding. Due to Lafora’s rarity (around 200 cases worldwide) it took over 3 years and visits to Children’s Hospital in Boston, Dartmouth-Hitchcock Medical Center in New Hampshire and the Hospital for Sick Children in Toronto to get a definitive diagnosis. Unfortunately the diagnosis is not the one we wanted to here. Lafora Disease is characterized by progressively worsening seizures and cognitive decline. It is typically terminal within 10 years of onset.
We are now focusing on Matthew’s quality of life and raising funds for Lafora research. Due to the disease’s scarcity, there is little funding to find a cure. We’ve held several yard sales and the Ride for a Cure Motorcycle run to raise over $6,000 for this cause.
Although Matt continues his battle with Lafora Disease we have managed to fit in a number of highlights.
The Make-A-Wish people arranged for a tour of Fenway Park where we got to watch batting practice from the field and watch a Yankees – Red Sox game. Matt met and got a ball signed by Reggie Jackson.
We submitted Mount Washington via the Cog Railway this summer. We toured the Niagara region of Canada and visited the Rock and Roll Hall of Fame in Cleveland. Matt’s goal has long been to attend Notre Dame University, so we took a trip to South Bend where he got a private tour.
Matt was elected Homecoming King and his classmates went out of their way to make it a very special weekend for him. In December, his classmates and the faculty held a variety night benefit fundraiser for Matthew. The whole Bishop Stang community has been wonderful to us throughout this whole ordeal.
March 30, 2008
Since January 1, 2008 our family, but especially Matthew have experienced the ravages of Lafora disease. Matthew has had 3 hospital admissions and been home only 25 days so far this year. He has been hospitalized each time with uncontrolled seizures, which have also caused problems with his respiratory system. The doctors have found that the drug Lamictal actually exacerbated his seizures, so they weaned him off of that. Now Matthew is on 5 seizure meds at very high doses. They have stopped his seizures but made him very lethargic and unable to communicate. He lays in bed most of the day. We had to make the decision to place a feeding tube in his stomach. Without that we would not be able to give him all his medications. At this time he is receiving all nutrition through the tube also. Matthew demonstrates that he is aware of all that is going on as he responds appropriately to all commands. It is so sad to see what this disease is doing to the body and mind of my once healthy, athletic and intelligent son. For the remainder of this admission the doctors are going to aggressively pursue reducing his medications to restore some of his ability to interact. The question is how far can we go with this without the seizures getting out of control.
We have always been committed to focusing on doing what we can do despite this illness. Up until Christmas Matthew was walking and talking and we spent time traveling and trying to enjoy life. Matthew went to Buffalo, NY to see a Patriots/Bills game with some old college friends of mine. He went to the BC/Florida State game with his grandfather, stepfather and football coach. Our family was looking to purchase a wheelchair van to ease our transportation needs for further travel. All this fun has come to a halt for now, but we hope to resume our activities in the future.
Matthew’s stepfather, Scott is still pursuing his Master’s Degree in Systems Engineering and he hopes to graduate in June. Matthew’s father continues to find ways to raise money for Lafora research. So far we have raised over $20, 000 for Dr. Minissian by having a Motorcycle Run; Matt’s Ride for the Cure, Yard Sales, Spaghetti Suppers and collecting cans. Lisa has taken a leave of absence from her employment as the care of Matthew has become more involved.
We hope and pray for a cure.
Lisa Santos
FRIDAY, JANUARY 18,2008
Matthew is back at Children’s Hospital again. He went back up to visit his Neurologist on Wednesday for a routine appt. only to end up in the ER after the appt. with out of control seizures. They gave him some medication to quiet the seizures but that has had an effect on his respiratory system. Matthew is not breathing as well as he should and he is requiring oxygen to help him. The seizures are still uncontrolled and we are not sure at this point what direction he is going in (home or for another extended stay at the hospital). If he comes home soon, he will be receiving nursing services to support Scott and I in his care.
We are tired and scared. The staff at Children’s is very helpful but it is an awful feeling to watch your child be so sick. The doctors tell us that there are other seizure meds that they can try to help him, but we have to wait to see if the meds he is on will be effective as they adjust them. Despite it all, Matthew continues to exhibit a sense of humor and strength. He is a brave soul that inspires us through it all.
- Provided by Mathew's Parents
