Lisa Santos’ Parent Diary: October 2010

 Drs. Minassian and Escueta
Dr. Minassian & Dr. Escueta

It’s been a while since we’ve posted an update and it has been an eventful time, mostly positive. We recently had a chance to travel to California to attend the annual Chelsea’s Hope fundraiser. For us the highlight was the opportunity to sit down with several other families of kids with Lafora and the two leading reasearchers searching for a cure, Drs. Minassian and Escueta. That’s the doctor’s in the picture above. It was a great opportunity to compare experiences with familites going through the same journey and get an update from the researches. The Gerber’s (founders of Chelsea’s Hope) were wonderful hosts.

Dr. Minassian’s team has been working to cross breed the genetically engineered mice that can make amylase [amylase has been shown to dissolve Lafora bodies in a test tube] with mice with Lafora disease. Experiments with these crossbreed mice will hopefully prove that amylase will also dissolve Lafora bodies in the living brain. This would be a great step forward toward a cure! Even if these experiments are successful there are still some significant hurdles to overcome. They still do not have a method to get the amylase through the blood/brain barrier. This tremendously effective natural defense unfortunately does not differentiate between harmful substances and beneficial treatments like amylase. The hope is that the better-financed researchers investigating more common neurological diseases such a muscular dystrophy will develop a technique to bypass this barrier. Lafora bodies kills neurons and it is unknown how much permanent neurological damage will remain after the Lafora bodies have been removed.

Dr. Escueta is focusing on gene therapy research and setting up clinical trials of IV Gentamicin, which shows some promise in impeding the progress of the disease in patients with nonsense mutations (unfortunately Matt is not a candidate). Two of the families at the event were participating in the trial and had experiences some short-term improvement. The hope is that this treatment will impede the progress of the disease, buying patients some more time until a cure is found.

We want to thank the many people that helped us to get away for this event. Our dear friend Julie stayed at the house for the entire time that we were gone. Gina, Kerry, Sandy and Michael all pitched in and put in extra hours to provide 24/7 nursing coverage. Julie fed the nurses, walked the dogs and entertained all with her great humor and wit. It was amazing to use that we were able to pull off a trip across country without a hitch. They all said we will have to do it again…Scott and I are planning to.

We have also been busy making some changes to our home. We have longed to expand the living space of our home so that Matthew can have better access to the outdoors. We expanded the patio area of our home and how we can just wheel Matthew out the back door, down a ramp to sit outside and enjoy the fresh air and sunshine. Imagine that…you and I just get up and step outside when we want to, now that is something to think about. Matthew sits in his wheelchair and seems to enjoy every minute of it.

We also had to add an automatic generator to our home. We have had one too many episodes of power outages in the summer and winter this past year. We can not stay in this home for long without power. Matthew requires it for assistance with breathing treatments. We don’t want to spend any more time in the hospital than we have to.

Recently we were introduced to another family from Bourne, MA who have a daughter who was recently diagnosed with Lafora disease. They are navigating their way as they face this new challenge to their life. We hope to work with them and share our knowledge/support as they move forward. It was overwhelming to us at first, but Scott and I have learned so much and we hope to lessen their burden as others have done for us.

We look forward to planning some more fundraising activities in the future. The researchers will always need our help as rare diseases like Lafora get no/little support fromt he establishment.

Matt, Lisa & Scott

**Read the update on Caring Bridges for Matthew DeSimas at the link below

To view more updates about Matthew go to

**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.