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.

Gabriela Richer

 

18 thoughts on “Adela and Her Family Go From Epilepsy Diagnosis to the Cruel Reality of Lafora Disease”

  1. Cathi harter says:

    I am Elisa Brackin’s aunt Cathi,I have seen firsthand what La Fora does to all it touches,and it’s devastating.I hope and pray that a cure can be found before we lose anymore of these kids… Your article was like reading my nieces life story…

  2. melissa merrill says:

    My daughter Chelsea who is. Also 16 went through everything I just read..she’s been diagnosed with lafora disease and I want a cure damm it!! Instead of building highways more restaurants..stupid crap with tax dollar $..put it to saving a children’s lives and get a damm cure..if it was your child you would be doing what you can to save your kid just like us parents with lafora kids are!! We will march down to Washington and California will hear us comming!

  3. Jan Parker says:

    I am only a friend and I have this guilt feeling. A hopeless, helpless feeling. My son and daughter went to school with Elisa. My kids are healthy, but when they are ill I know it is only temporary. I cannot imagine what parents of these children are going through. I still have faith though, that there is hope and an answer somewhere for these children.

  4. Barbra Boiser says:

    I had never heard of this disease until tonight. I cannot imagine how terrible it is to the victims
    or their families. So very Sad. I will put you all in my prayers & hope a cure will come about some day sooner than later and that these children and their families will suffer no more.

  5. Concerned mom says:

    I am sitting in hospital ER right now watching my daughter get IV anticonvulsants. We have just received news that she has a variant of lafora disease. Meds are not working as well and symptoms are worsening. I have been told that because it is a variant of the disease it’s ‘probably nothing to worry about’ but thatbis hard to believe sitting in an ER watching your child in such pain from seizure headaches. She doesn’t have myoclonus seizures so doesn’t fit the ‘pattern’ praying for everyone affected daily.

  6. CAE says:

    i never knew of the disease until now. every day you wake up healthy you have a reason to give thanks. my prayers are with you.

  7. Anonymous says:

    I used to think that this type of dementia stuff only happens in old people. My grandmothers both have Alziehmers and I know it is really sad to lose your ways and die off day by day. I was already surprised by the fact that a 16 year old has Alziehmers. I thought dementia in teenagers is impossible because they are having a young healthy vibe. Yikes! The imagimation of a groovy and robust teenager suddenly at age 17 going through what my Grandmas have is really scary and sadly is a real thing But still I have learned something new today.

    As a 20 year old with High-Functioning Autism (Rain Man Syndrome), I am a very clumsy and sometimes forgetful person like Adela was in her early stages and have socio communication deficits too like Adela when she had siezures. Epilepsy can be misdiagnosed as autism (I NEVER AND DO NOT have seizure tough 33% of other autistic people, mainly low functioning ones, do have it.) But at least I am not going through the horror and robbing of a happy future that this poor girl went through(God bless her). By the way, a teen with Laforda Disease, in it’s early stages can be misdiagnosed as Aspergers Syndrome just as I was misdiagnosed as having Aspergers too when I was diagnosed at 6 years old. But I was later revealed to have Classic High Functioning Autism at age 18 years old because the doctor was told about the fact I regressed when I was 16 months old and I was born normal just like Adela and I had different behaviors from Aspergers. And the reason why a teen in early stages of Laforda can be misdiagnosed as Aspergers is in addition to the reasons said above, people with Aspergers have a higher epilepsy rate than the general population and rate peaks during adolescence. And this makes misdiagnosis like this even easier. So in the list of conditions that mimic Aspergers Syndrome in differential diagnosis (look under ‘Differential Diagnosis’ section in this article, https://en.m.wikipedia.org/wiki/Diagnosis_of_Asperger_syndrome#Differential_diagnosis) like other PDDs (ASD[what I have], PDD-NOS,Rett’s, CDD) and Fragile X Syndrome, I think that Laforda Disease should be added to the list as a mimicking condition alongside with PWS and BPD.

    When I become a marine bioengineer, I am going to use resources I find in the unknown deep to find a cure for this tragic rare disease.

  8. Anonymous says:

    I too developed perfectly normal from birth except the regression came when I was 16 months old. At that age,I had what is called “Regressive Autism” and my mom was really worried about me as I became less silent as time passed by. As I started to lose more skills, she got more worried and within a matter of 9 months, I regressed from a perfectly developmentally normal toddler that was doing better than my Nuerotypical brother to a severly low functioning autistic kid.

    My mom at that time was desperatley looking for what I have and she was really worried about me. It would be hard to wonder if a doctor told her I had some rare nuerodegenerative disease, which basically spells out a “death scentence” or “Your kid is going to die.” especially for a mom that loves me so much. My family already lost a little girl to a heart condition when she was almost 4 years old.But thankfully, in reality, that was not my case. When I regressed to the level of low functiong autism, the regression at least stopped there and did not regress further than that and in fact after that, I improved to the point that today I am similar to someone with Asperger’s. Now I attend a REGULAR university because my parents at least had a way to combat what I had when I was little.

    On the other hand, Lafora patients and their families are totally helpless against that disease that robs their once robust, groovy teen from the future they’ve been just planning right at his footsteps and relentlessly regresses these teens nonstop until the disease kills them. Lafora is really a cruel monster. I sometimes wonder, “Why does God allow these things to exsist?”. It is so bad I do not want to even mention imagining Lafora in one of my friends.

    Not even Alzheimers in both of my grandmothers seems that bad because at the age they usually start Alziehmers, they have at least completed their lives and left a mark in this world. Ronald Regan is a great example before he got Alzheimers.

  9. Vera Faludi says:

    wo weeks ago I los my daughter to
    Lafora. She fought bravely against this disease for 25 years which is an unusually long time. would like t say that it is the ravaging of the body that kills, like weak lung capacity
    for instance. Most die from pneumonia and not from seizures.

  10. Venkatesh says:

    17 years old my cousin suffering, its hard time for any in the family to live with our kids having this disease. Trying to give best to our kid, what we can do other than that. Thanks, Venkatesh.

  11. J Warren says:

    A year and a half ago I read this story. At the time my nephew had recently been diagnosed with Lafora. He hadn’t gone through all that he eventually would then, so when I read this story it frightened me something fierce. Well almost two years later and after seeing and living beside someone who is affected by this disease…I tell you there is nothing worse than seeing someone you love waste away. He’s currently in a rehab/nursing home for people with brain injuries.
    The disease seemed to progress so fast. He had a seizure last March and was taken to emergency…he never came home. It seems so sad that with all the wealth in this country that any and every disease isn’t well funded. I pray for him and all the families affected by this horrible horrible disease. I’m sorry for the rambling.

  12. Joseph says:

    Congratulations for this great effort by all the authors to cover in your new definition the things which were not covered before and to include new concepts derived from the clinical practice which has medico legal implications as well.

  13. Alice Ngigi says:

    Thanks for sharing

  14. Alice Ngigi says:

    This is an eye opener. Thanks

  15. It must be terrible, especially for the parents who spend a fortune and hope for improved health just for the doctors to tell them the death sentence is neigh

  16. Rabia says:

    Lefora bodies disorder is certainly a horrible neuro degenerative rare disorder which is indeed a life sentence to not only patients but their care givers as well. It’s high time government should start research in this rare disorder . The health budget must include finances for rare and very low prognosis disorders . After all ,lefora patients are not born to face life sentence of lefora.Humanism is something beyond money matters, government should feel .

  17. ali sydney says:

    My son is 5 years old. He suffered from myoclonic seizure for over a year, uncontrollably with meds. When he has one it starts where he rolls his eyes back or his eyes are staring off to nowhere, seeing he arms jerk every single night His breathing gets very shallow and his heart rate speeds up, now his not sleeping. I don’t think there’s any changing he started experiencing one horrible serious side effect of the medicine. I could not get an appointment with a neurologist for 5 weeks. I was filled with worry. Thank God for a wonderful doctor, i read a testimonial of someone on a website her daughter was cure from seizure using herbal medicine. I called the number that was retain at the website, i explain to doctor Lawson about my son symptom and I ordered his medicine. my son used the medicine for month now, his health has change the meds worked without any trace of side effects. For over 1 year now seizure free if you don’t have this herbal product it is available. It works, wonderfully. Call him at (979) 475-5130 or email dr.lawson52@ gmail. com. I’m so grateful that he was able to SURVIVE it.

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