Lisa Santos’ Parent Diary: March 2009
Matthew is feeling better again. The other day I realized that this disease, like any other chronic progressive illness, gives me a feeling of riding on an endless roller coaster ride, only it is not fun. We have our quiet moments (honeymoon phase) when Matthew’s brain seems to respond well to the meds. There are no seizures, he is comfortable, and we all sleep through the night. Then he has subtle changes in his behavior, sleep patterns and seizure activity. That is a signal to us that something may be about to change. The change does occur; he has frequent seizures, behavior changes and issues with his physical status. I can feel the adrenaline start to pump in my system and we hold on tight hoping that we can deal with the change. We call the doctor, she makes a med change and then we wait for the next honeymoon. Meanwhile we try to keep up with the care of home, Matthew and ourselves. I can only imagine what Matt must be thinking during this time, as he cannot tell us.
Recently we read an article in the Boston Globe that gave us HOPE. Gene Therapy has made some gains in successfully curing illnesses with fewer risks. This type of therapy is being researched by a doctor at UCLA as a method of curing Lafora disease. We copied the article and sent it to Dr. Minissian in Toronto. He responded with the following message:
“The article does not relate specifically to Lafora, but yes there is finally being some progress in general gene therapy techniques, which when ready can apply to Lafora.
In our work, we now have mice that make amylase in the brain. We are going to breed them with Lafora mice and try to cure them. If it works, we will move towards trying to get amylase into the human patients. A while away yet, but we can continue to do with all the financial support our families garner for our work.
We continue to do our part to support research. We once again ask for your help. Chelsea Gerber’s friends and family are having an Auction on May 17, 2009 at Forli Restaurante in Alamo (California). They invite all to attend and ask for your help in securing auction items or donations. This money goes directly to support Chelsea’s Hope Lafora Research Fund. Go to Chelsea’s Hope website to learn more about the specifics of this research. I will accept items for the auction and arrange for them to be sent to California. So if you have any connection to a business or corporation that would be interested, please contact me. I have a Donation Receipt form and Informational Flyer that I can e-mail to you. NO item is too small!
We continue to support Dr. Minissian’s research via bottle collection, and our Yard Sale this July. Friends have told me they are setting aside Yard Sale items. Are you? I bet that you have some old books, CD’s, household goods that you may be able to donate. We will store them for you if needed.
Bottle deposits continue to add up. The other day I passed by a neighbor’s home which had a recycle bin filled with empty beer bottles. I hit the brakes on my car and asked the neighbor if we could have them. “Sure” he said, “just don’t think that I drank all that beer at once.” I told him I didn’t care if he drank them in one day, as long as I got the bottles!
So help us to help Matt and all the other kids with Lafora disease.
Lisa, Scott and Matthew
**Read the update on Caring Bridges for Matthew DeSimas at the link below
To view more updates about Matthew go to http://www.caringbridge.org/visit/matthewdesimas
**CaringBridge is a free, nonprofit web service that connects family and friends to share information, love and support during a health care crisis, treatment and recovery.