Just a short year after and a half of onset and diagnoses of Lafora disease a lot has changed. Everything Jessica has worked so hard to learn and achieve such as holding her head up, sitting, walking, potty training, feeding herself, talking, dressing and bathing all by herself, reading and writing has taken a shift in reverse, going backwards until one by one they were gone. Jessica’s function ability is that of a newborn baby again. She can no longer do for herself the things that we take for granted . Jessica can no longer chew foods or swallow liquids without the risk of aspirating. Now she gets her feedings through a g tube. Jessica suffers from dementia and hallucinations. Jessica can still talk a little, however with long delays and major stuttering making it impossible for others to understand her. Lafora disease causes cognitive decline until the brain is at a vegetative state.

Although Jessica has declined a significant amount she is still very much aware that this is all happening to her. She cries and wonders, “Why her?”, “Why don’t my friends come around anymore?”, “Why did my boyfriend break up with me?” It is to heart breaking to tell her that they can’t handle seeing her like this and that they can no longer relate to her cognitive level.

Jessica’s Dad and I are her new best friends. The highlight of her day is having a book read to her, listening to music and watching movies. Jessica has two younger sisters, Candice and Carly, ages 14 and 11 years old. Jessica’s disease affects our whole family in so many ways I cannot even count.

Lafora disease is so rare that it only affects about 200 hundred teenagers in the whole world and about 20 in the USA. Unfortunately Jessica is one out of the 20 teenagers in the USA that is affected. Something this rare does not get media attention, it does not get government funding for research. I bet you can ask your family doctor or nurse about Lafora and they will say they have never heard of it, so you can imagine what caring for Jessica is like.

We weren’t prepared for this and neither were the doctors. Aside from the contact we have with the few other Lafora parents that have already been or are going though this horrible ordeal, we are on our own. It is up to us parents to raise awareness and funds for the few research doctors out there.

Sheri
Jessica’s mom