Gabriela & Edmond Richer’s Parent Diary: March, 2012
Adela is now 22 years old. Two years have passed since our last entry in the Lafora journal. There were years of loss, hardship, and despair and once in a while a very pallid and insecure hope.
Adela is now 100% dependable on people around her, totally incompetent for the simplest tasks. No more walks in the park. No more walks anywhere, not even within the house. We use the wheelchair for the shortest trips. Her muscles are weak and permanently trembling, no longer able to sustain the weight of her body. Her speech is so much altered that for somebody outside our house it will be almost impossible to understand anything she is saying. We, the people who are part of her world, understand her only because we know the context.
One good thing is that her mind did not fail her yet. Adela does not have dementia. She is very well aware of everything and everybody around her. Her sweet nature and lovely personality are still there. Her memory is very good, never forgets anything, especially our promises to her. This is a trait of hers that we have loved so much ever since she was a toddler, and one of the few left of our Adela before Lafora. She keeps us in check and accountable for all our promises. However, there is one big promise that we continue to make to her just to keep her fighting spirit alive. We feel such a tremendous sense of guilt by promising something that is not in our power to deliver. There is no other way though.
She is still reading from her kindle, at a very slow pace and every so often losing her place as her trembling hands cannot find the right button. She is watching her favorite shows on TV and her beloved movies over and over.
Twice a week we take her to aquatic therapy that she grew to enjoy if only for the fact that it is the sole diversity in her life. Aquatic therapy is the only instance in which we see Adela standing on her feet and actually walking as the weight of her body is in great measure sustained by the water. There are however many times when we have to skip the therapy as she is too shaky and the myoclonus too strong to be able to do even the simplest exercises.
In the last two years Adela was able to do the Gentamicin therapy which was so much awaited and so slow in coming. Besides Adela we know of only one Lafora patient who was able to do this treatment. Therefore in the big picture we should consider ourselves privileged. It looked promising at the beginning, but today we could not say undoubtedly that Gentamicin helped her. It did not improve her quality of life and in that regard Lafora steadily continued to rob Adela of her abilities. However, with all this loss of life that our small Lafora family experienced in the past two years, the Gentamicin might be the difference between life and death. No need to say how big that is.
Despite the grim reality that we are facing every day we still believe that a miracle might happen. It is the thought that helps us go through each day. We have to choose between dreaming the impossible dream and contemplating our child’s end of life. This is an easy choice to make.
We follow the published scientific papers and we are glad when we learn of advances in gene therapies, or stem cells therapies, or any other kind of promising intervention hoping that progress in other diseases will open the way to therapies for Lafora. To this point Lafora disease remains a death sentence without a possibility for appeal. There is no specific treatment for Lafora. There is nothing that can be done to make it easier on these young people who live such short and tortured lives. Old and new epilepsy drugs do not target the causes of Lafora disease, they are just a palliative. For the scientific world at large it is not urgent to investigate it and for the pharmaceutical companies it is not lucrative to develop a treatment. Our hopes and prayers go along with very few brave scientists who work arduously to penetrate the mysteries of this terrible disease. God help and guide them every step of the way.
Many times when I am thinking about the rarity of this condition I wonder what kind of point God wanted to make to us and to other parents like ourselves. And then I wonder if, in a different arrangement of the Universe, Adela was a healthy, happy young woman, what reasons would we have possibly found to fret about life.
Gabriela and Edmond Richer