Adela was born in 1990, and she had been an absolutely normal child until the age of 11, when she had her first seizure. Life the way we knew it ended in September 2001, when we started a very sad journey. Now, 11 years later, we have reached a place where there is only death and despair.
Adela’s first seizure was followed by many more, and her first anti-epileptic drug was followed by practically all the arsenal that modern medicine has to offer for epilepsy: different combinations and different quantities. For many years, at any given time, we were weaning her off one drug so that we could try another one.
Adela started being clumsy and forgetful. School work became very challenging for her, where before she had taken advanced placement classes in all disciplines. For many years, we had put her altered self on the effect of the anti-epileptic medicines, and we could not understand how medical science could proclaim that “most of the people with epilepsy could live a normal and accomplished life.”
Adela’s life was far from normal; she was deeply affected by her condition. On a regular basis, we were noticing changes for the worse. Soon she was falling many times a day, she became incapable of doing anything with her hands, and she became incapable of any intellectual effort. It dawned on us at that time that her life was in serious danger and we were dealing with more than a benign form of epilepsy.
There is so much to say about the doctors’ dilemma, and their struggle and effort to solve Adela’s case and bring her to a place where there was no more loss and that life was, if not normal and happy, at least livable.
There is also so much to say about all the time that Adela spent in the hospital, in the epilepsy monitoring unit, hooked to the EEG machines for weeks at a time, trying to find clues as to what was happening in her brain. We learned that in June 2007, after six years of frustration and confusion, that Adela was suffering from Lafora disease.
Lafora disease, or progressive myoclonus epilepsy of Lafora type, is a very rare neurodegenerative, recessive inherited disease (one faulted gene inherited from each parent), which strikes young people in their second decade of life and kills them within 10 to 15 years. It occurs in less than one in a million. So it is a very lonely world for Lafora patients.
It is cruel beyond anything that a living thing should endure, as it takes everything from these young people: their minds and their bodies. Seizures become so frequent that their brains are under a permanent attack. Children lose their reasoning abilities and fall into dementia. Then they lose coordination and any kind of muscle control, ending up in a vegetative state. For some, all of this decline happens in a span of a year or two. For others, it takes longer: five to 10 years.
In 2007, Chelsea’s Hope was born. Chelsea is another victim of Lafora, now 21 years old, whose devastated Mom wanted to make this disease known to the world, to bring the families together and maybe to raise some funds to help the meager and sporadic research.
There are 24 families associated with Chelsea’s Hope, the majority from the USA with some from Europe and Canada. You could read our children stories, and there is not one of survival. Every year we lose some, and each time is like loosing family as we are in close connection. When we lose one of our young brave soldiers, we all mourn, and the general feeling is like waiting in line for the execution.
Due to advances in genetic screening and the informational and communication system of the Internet, we learn fairly often about other cases. It is very likely that there are a lot more young people worldwide who die of this disease, and many of them are undiagnosed and unacknowledged.
Currently Adela is bedridden, with someone permanently attending to her needs. She needs assistance in the most basic aspects of life. Her peers finished college last summer and are embracing life, while Adela spends her time in her room watching Pocahontas and The Little Mermaid. She has been long forgotten by her friends. She was able to graduate high school, but it seems like ages ago when she was able to do something by herself.
She has not written anything by hand or typed anything in more than three years, being unable to coordinate such activities. Any intent, purposeful gesture drives a long array of myoclonic seizures that can go on for hours. And they never stop by themselves. They will either end with a generalized tonic-clonic seizure or must be stopped by heavy medications.
I know that sickness does not elude most of us in our lifetimes. However, the majority of us will leave the doctor’s office with a treatment plan, some options to hang our hope on or maybe a faint promise that something will be available soon enough. Well, I remember my husband and I in the summer of 2007 when we learned about Adela’s diagnostic, and we left the neurologist office with a printing from the Internet that was briefly defining Lafora disease and the prognosis of the condition—no plan, no referrals, just a death sentence for our only child.
It is impossible to be hit in such a way and not break inside irreversibly. People talk about coming to terms with a situation, but in my case, I will probably die before being able to come to terms with my daughter dying of such a cruel, rare disease.
Lafora steals young lives by taking away their minds and bodies in a short period of time. Being so rare, there is no incentive for research, and when I am thinking about the immense resources that are invested in the study of neurological disease that affect larger segments of population, I realize that our children do not stand a chance to have any treatment designed specifically at any foreseeable time.
The very few scientists, who have tried, either quit from lack of funds or depend exclusively on what money the affected families can raise. And between making a living and taking care of their severely ill children, added to the rarity of the condition, families can do very little to finance a serious and sustained research.
The feeling that Lafora patients get, and many other people suffering from rare diseases, is that they do not matter. They do not matter for the medical science or for the pharmaceutical industry. If there ever was a federal grant specifically for Lafora disease, we have never heard of it.
These young people only matter to us, their families. We hope that the Global Genes Project will change that.