The heroes of Chelsea’s Hope that will not be forgotten

Janet Lee Harris

October 23, 1957- August 2, 1981

My inspiration for the following outpouring was finding your charity, Chelsea’s Hope Lafora Children’s Research Fund, on line.  My heart goes out to all the children and their families who are suffering with, and dying from, this terrible disease.  My admiration goes out to all of you involved in this charity and the great work you are doing in raising needed money for research and, just as important, the support you give each other.  If we had had the technical knowledge and communications that we have today, back in 1969, perhaps our daughter would have been diagnosed much earlier and she, with us, would have had a better grasp on what was happening while she still had the capability of speech and understanding.  Also family and friends, who thought we were being overprotective parents in the earlier years of her illness, would have been better informed.

Our beautiful, clever, talented eldest daughter Janet Lee died on August 2nd 1981, just before her 24th birthday, from this devastating disease, Lafora Body, leaving us and our two younger daughters, Lesley and Karen, bereft.

In 2002 my darling husband Raphael died and while still mourning his loss, I decided a few years ago to look on line to see what research, if any, had been done for Lafora, but when I started to read what I found, it was too distressing for me and I didn’t look any further.

As my 80th birthday approaches, I now feel I am mentally in a place where I am able to look back and tell Janet’s story.

We were so alone, no diagnosis and no one to understand Janet’s or our problems.

In 1969, when she was 11 years old, the first obvious indication we had that anything was wrong, was when she presented with multiple Grand Mal, status epilepticus (we didn’t know what this was at the time), rushed her to hospital where it took hours for the doctors’ to stop this onslaught.  She awoke the next morning as though nothing had happened. Our Paediatrician admitted Janet to hospital the following week to undergo various tests, one of them being a lumbar puncture – no conclusion, only that it may be puberty. Nine months later exactly the same thing happened, after which Janet was prescribed valium and we were told she had epilepsy.  I can’t believe how devastated we were to think she would have to live with this – little did we know.

There followed 9 years of doctors’, specialists’, hospitals, homeopathy, healing and a myriad of different medications, taking Janet out of school at the age of 15 because the petit mal was so frequent it was interfering with her learning and she couldn’t cope, had remedial teachers at home to help with her writing etc., but to no avail. In desperation we took Janet to New York for 4 months in 1976 for an alternative treatment with a Dr. Laverne, which didn’t turn out well – but that’s another story.

While we were searching for information, I backtracked over Janet’s life and thought I had found a few clues that may have had a bearing on her condition.  Starting at pre-birth when I was 8 1/2 months pregnant she was breech.  The young doctor I saw tried to turn her, working on me for 1/2 an hour.  The pain was terrible and my stomach was badly bruised for a week after.  He couldn’t do it and had to call the specialist in who very gently manipulated and turned the baby.  After a 48 hour delivery of very strong labour (my husband told me that when he visited me in the labour room that I was completely swollen – face, arms etc) our baby was born only after a doctor was called at 1.30 am and he broke my waters.  Janet was born so puffed and swollen that we could hardly see her features.  She had jaundice, the deepest yellow I have ever seen, even the whites of her eyes, which lasted 6 weeks before it began to fade, and nothing was done about it.  This was National Health, we were young and didn’t know any different.  She was a very bright baby and child, reading fluently etc., before starting school at 4 1/2 years old.  When she was 8 she was on a see-saw with her friend, her friend jumped off when Janet was up high and she came down heavy causing a bad concussion.  We called the doctor who said it was just concussion and she would sleep it off.  In those days we believed what any professional told us.  When I looked back over Janet’s school reports, which were always good, academically they slowly deteriorated – comments like ‘Janet isn’t concentrating’, ‘Janet is daydreaming’ etc., didn’t raise any alarm bells because children generally go through different stages and all her other reports – sports, art, elocution, piano, acting, poetry were good.  There were other things in those 3 years that I remembered, but didn’t attach much importance to.  So my conclusion was that whatever the problem was, started much earlier than 1969.  These views were related to most of the professionals we saw over the years, but they saw no connection and were not interested.

In all these years nobody could tell us what Janet’s illness was, obviously it wasn’t epilepsy, and all we were told was ‘take her home and make her comfortable’.

When Janet was 20 we wanted her to go to a day centre for 2 hours a week, but she had to be assessed by a Dr. Ben Sacks at our local hospital first, to see if she was eligible.  On our first visit we explained Janet’s history and, of course, he was observing her.  He told us he thought he had an answer for us but would have to run some tests first.  After the tests he confirmed that Janet had Lafora Body Disease and what her life expectancy was.  As parents’ of a loved child, we heard it but in our hearts’ we couldn’t believe it. At that time he told us that there were 30 known cases of this disease in the world and because we were then worried about Lesley and Karen, he assured us that Lafora was not hereditary but genetic.  Although this diagnosis was the worst news that we could have heard, that our daughter was suffering from a fatal genetic disorder, in a strange way it was a relief to finally know so that we could stop our relentless search for answers to our questions, and the extra pain and anxiety this caused us. So the searching stopped and we planned and had some wonderful holidays with our three gorgeous daughters’, celebrated all the good things we could to create happy memories.  But for Janet it was really too late, because by this time her comprehension and general condition was so poor.

The big question for us was why all the top people who saw Janet in all those years couldn’t diagnose her.  Ben said it was by pure chance that he happened to be reading an obscure article in a medical journal 3 weeks before we went to see him, and when he heard what we had to say and closely observed Janet, she presented the symptoms he had been reading about, and the following tests confirmed his suspicions.  He looked after Janet until she left us on 2nd August 1981 at 8am, at home, with us.

Jake Buie

(October 5, 1991-February 23, 2015)

Malden Missouri

It has taken me a year and a half (the time since we have known that Jake has Lafora) to write Jake’s story. I find it harder to write about something than to talk about something. Well, I have procrastinated long enough. People other than in my own community need to know Jake’s story. I call it Jake’s story, but really it is more than that. Jake has impacted not only me but our whole family and more people in our community that I may not ever know about.

Jake was a normal boy who loved to play baseball, loved watching wrestling and acting like a wrestler. On the weekends he always wanted someone to come over to play. Jake loved to have friends over to play video games, play basketball and baseball. There was no sign what-so-ever of anything being wrong with him. The only reasons I would take him to the doctor would be for his shots and normal sicknesses like ear infections, colds, etc.; however, in August of 2001 that would all change. This is when Jake had his first seizure. It was not a grand mal (that would come 2 weeks later) but this seizure made Jake’s eyes fix to the right and his head followed that direction. He could not answer my questions for about 2 minutes. I freaked, finally got my senses to call the ambulance and they took him to the hospital. Once we got there the doctor said that it sounded like a seizure and said that there are medications to take care of it. Jake was 6 weeks shy of his 10th birthday. This day was also the first day of fourth grade. Almost immediately the teacher had to modify Jake’s work. I had heard from other parents how much harder fourth grade was, so I blamed a lot of Jake’s troubles with academics on the fact that fourth grade was indeed much harder. It wasn’t until the middle of his fifth grade year that we had to put him in special education. Sometimes I would blame the medicines for Jake’s troubles, but the doctors always told me that it was not his medicines but the underlying cause for his problems, not knowing that it was Lafora.

From August 2001 to October of 2007 we tried multiple medications, ketogenic diet, Naturopathic doctor, different supplements that the Naturopathic prescribed, a special diet that the Naturopathic suggested, VNS implant, had numerous EEGs, several MRIs, PET scan, video EEGs (that ruled out surgery), we have tried anything that we thought would be helpful. Some of these things would help for awhile but the seizures still kept coming back. We never could understand why we would see other kids who had seizures becoming seizure free with medication and Jake just kept getting worse. It took a new doctor (for us anyway) from St. Louis Children’s Hospital one visit from us to do a blood test for Lafora and unfortunately the doctor’s assumptions were correct. On October 3rd 2007 (2 days before Jake’s 16th birthday) we found out what that “worse” was all about.

Today, Jake still is able to attend school. He is considered to be in 11th grade, though his actual grade level is probably 1st grade. He does miss school about 2 or 3 days a month because of the grand mal seizures. He has had an personal aide since the 7th grade. He takes Depakote and Keppra regularly and Klonopin for the bad days. His VNS implant is still on. Jake is able to walk though it is apparent his posture is that of an elderly person. On his “jerky” days (which seem to be coming more often) he needs assistance walking to prevent him from falling. He wears a helmet because he has fallen and busted his head several times. He talks but in short sentences and sometimes has to repeat the first few words over and over in order to get the rest of the sentence out. Jake has an amazing laugh that you can hear throughout the entire house. I love it!!

It is hard to put into words the life that we have led these last 7 ½ years. How do you get someone to understand the numerous ups and downs that Jake has been through? How do you get someone to understand the feelings that a mother goes through watching her child go from a normal energetic boy to a young man who has trouble feeding himself because his hands shake and jerk too bad? How do you get people to understand that you feel as though you are going through a death of a loved one because your child is no longer who he used to be? The truth is that there is no way to get anyone to understand unless they have been through it. Through chelseashope God has answered our prayers, we have people who understand. We finally have people who know what it is like to comfort your child when friends stop coming over, when your child cries out to God for a miracle to stop the seizures, when they feel alone because they feel like no one has problems like they do. Thank God for Chelsea’s Hope.

– Provided by Jake’s mother, Jan Blume

   

 

 

 


KFVS News
April 21, 2010

“Living with Lafora: rare disease affecting Malden teen”
By Crystal Britt

“A Malden teen is fighting a battle that looks like, unless there’s a miracle, it can’t be beat. Jake Buie though isn’t suffering alone. He has his family and friends to help him as he lives with something called Lafora…”
Read more


 

Parent Diary

May, 2012

Elisa Brackin

(October 7, 1998 – March 10, 2015)

Elisa was born October 7, 1988. She was a normal, happy healthy child. She excelled at school and was always a “little Sweetheart.”

In March of 2003 we were on an all-girl cruise in Mexico. While on an off-board excursion, Elisa had her first seizure. I did not know what was going on! We thought maybe something may have stung her. She was rushed to the hospital in Puerta Vallarta, checked-out, given some anti-seizure meds., and we finished our cruise.

When we returned home we went to a neurologist, had an EEG, and all the other tests done. It was determined she had epilepsy and that anti-seizure drugs would let her live a pretty normal life.

Well for the next three years everything was fairly O.K. Elisa graduated from High School, rode her horse, swam, rode her quad and even held a job and started college. But we did notice a big change during her Senior year of high School. Her grades dropped, she was tired all the time, she became clumsy and she got lost or distracted easily. When she got her license she was terrible driver. We thought it was just her, but it turns out she was having absence seizures all the time! Needless to say, she does not drive anymore.

In 2006-2007 we started see a new neurologist, Dr. Ronald Bailey. We did more tests, different drugs etc. Dr. Bailey referred us to Dr. Kim at UC Irvine. We did the weeklong EEG test, and while we were there Dr. Virginia Kimonis, a geneticist, did some tests. She found the “Lafora,” but we still did not understand what we were dealing with. No one really told us what to do or what to expect. We have been to Stanford, UCI, and our latest journey took us to UCLA where we met Dr. Antonio-Delgado Escueta.

Elisa is 21 now and she can still walk if we hold her hands. She barely speaks, cannot read anymore. She spends most of her time sleeping or watching DVD’s. She still smiles a lot, but she does not understand things. We won’t tell her what is wrong; there is no point to that. We take her to as many places as we can. We got to NASCAR at the California Speedway, Big Bear, and the desert where she loves to ride in the dune buggy with her dad. We try to keep her life as happy and fulfilled as possible.

Elisa has been sick now for seven years. Time is running out. We need to find a cure. Dr. Escueta is our only hope right now. He needs donations towards his research.

Please donate to “Chelsea’s Hope,” not just for Elisa, but all the kids (young adults), that deserve to live their lives.

Sincerely,

Tom, Mari, Will and Elisa Brackin


LAFORA’S CHILD

I SIT AND WONDER,
I SIT AND THINK.

MY MIND STILL FUNCTIONS,
THOUGH I CAN NO LONGER SPEAK.

I FEEL SO ALONE,
INSIDE MY HEAD.

MY WORLD CONSISTS OF T.V.,
MY ROOM, MY BED.

I ONCE HAD FRIENDS, WENT OUT AND HAD FUN.
NOW I SIT LONELY, AS IF I AM SHUNNED.

I AM STILL ME, I SHOUT FROM INSIDE!
THOUGH NO ONE HEARS ME, SO ALONE I RESIDE.

LAFORA IS ROTTEN, TERRIBLE, EVIL!
BUT WORSE THAN THE DISEASE, IS WHAT IT DOES TO MY PEOPLE.

YOU SAY YOU LOVE ME, MISS ME AND WILL VISIT.
WORDS ARE EMPTY PROMISES UNLESS YOU ARE VIGILANT.

DO WHAT YOU SAY, SAY WHAT YOU MEAN.
DON’T LOSE ME IN THE WORDS, PLEASE COME CLEAN.

I AM STILL ME, YOU ARE STILL YOU.
IF WE WERE FRIENDS IN THE BEGINNING,

WHY SHOULDN’T THE SAME STILL RING TRUE?

Written by Mari Brackin, Elisa’s mother


Parent Diaries

August, 2010
March, 2012
December, 2012
December, 2013

Douglas Jacob Lucken

Hanford, California

(April 27, 1992-July 26, 2011)

Hanford Sentinel, July 26, 2011
Local Inspiration DJ Lucken Dies by Brandon Santiago

Douglas “DJ” Lucken, whose struggle against a debilitating genetic disease was chronicled in The Sentinel, died Saturday at his home in Lemoore surrounded by his family. He was 19.

“Our family has been so touched by the support from the community, especially the students at Lemoore High School,” said Christina Zigler, Lucken’s mother. A memorial car wash is scheduled for 10 a.m. Wednesday in the Lemoore Kmart parking lot; students also held a candelight vigil for DJ Sunday night.

“These kids have demonstrated so much compassion in our time of need. Just as they said that Doug amazed and inspired them, these students have amazed and inspired my family by how quickly they rallied to honor him. In just a day they put together a car wash and candlelight vigil.”

Students at Lemoore High have been very supportive ever since a story about Lucken ran in The Sentinel in January 2010.

The students, staff and school administrators immediately created a special fundraiser called “Doug’s Daily Dollar,” which successfully raised $10,000 to help with Lucken’s treatment. He was also voted prom king at the 2010 Lemoore High School junior-senior prom. The vote had been nearly unanimous. Principal Rodney Brumit said Lucken received several hundred votes, while his only competitor got about five. “It was pretty touching,” Brumit said in a previous interview with The Sentinel. “This group of kids, they’re pretty amazing.”

As an incoming freshman at LHS, Lucken had an unreserved passion for school and anything that allowed him to learn — he also had dreams of becoming a pro motocross rider.

In September 2006, his dream ended when he had his first seizure while outside washing his mom’s truck. He was rushed to the hospital and put on eight different medications — mostly all to help control seizures. The doctor caring for him advised that he undergo genetic testing for the extremely rare and “unlikely” disease Lafora — an inherited and progressive type of epilepsy caused by a mutated gene. The gene is created when two rare genes, one from each parent, are combined.

On Aug. 6, 2007, nearly six months after the tests, he and his family were devastated by the news that he did in fact have the Lafora-causing gene. Reported in only 11 children in the U.S. and 200 worldwide, Lafora disease begins in late childhood or adolescence and becomes progressively worse over time, usually taking the life of the person in two to 10 years. A little more than a month ago, Lucken had a bad episode of seizures and it was decided he should be kept home and under hospice care. When he died this weekend, there were no seizures; he simply went to sleep. “It was very peaceful,” Zigler said. “There was no pain. He just wasn’t ever really the same after that last bout of seizures he had a while back. But we did get one last smile from him before he went. He was a fighter, he fought and fought for years.”


Biography

Douglas Jacob Lucken (DJ) was born on April 27, 1992 in Lemoore, Ca. He has been a very happy, fun, energetic and very intelligent child. He always learned very quickly. His passion has always been riding and working on bikes. Doug absolutely loves school and currently he is still doing that.

In September 2006, at the age of 14, he had his first seizure. At the time we never saw it coming. We thought that it was just heat or just an adolescent seizure. He was referred to a neurologist in Hanford, CA. The doctor had him on 8 different medicines, Depakote was one of them. He was taking 5000mg of that a day along with an anti-anxiety medicine. It seemed as though it was just making him lethargic. By December of 2006, Doug was having trouble walking, standing, and doing the everyday things he used to do. We noticed that he was having full body spasms, twitching, jerking and some incoherency. We thought that it was just the amount of medicine. The doctor was stumped and referred us to UCSF neurology clinic for further evaluation.

In February of 2007, we went to UCSF for a consultation. At that point that doctor that was evaluating him said that he wanted to keep him there. We never expected that either. We were only there for a consult. They kept us and de-toxed him off the 8 different meds that he was on. We were given to the Chief of Neurology, Dr. Hutchison. Doug did so well coming off of everything. No twitching, jerking, spasm or anything. In the 15 days that we were there they kept him hooked to the EEG machine to see where the seizure could be stemming from. They found nothing. About 7 days into the stay Doug had a seizure and at that time he did not have the EEG on. Towards the end of the stay Dr. Hutchison faces us with the decision to do the genetic testing for Lafora Disease. He said it is very rare, but Doug probably didn’t have it but he wanted to rule it out. So we did the testing.

On August 6, 2007 we were given the horrible news that my beautiful baby boy had Lafora Disease. As you all know and have experienced that is devasting. Douglas has progressed downward since then. He is now on 6000mg of Keppra a day along with 6mg of Ativan a day. He is drooling now, has a hard time sometimes using the bathroom on his own. He does have twitching, jerking, problems swallowing and memory loss as well. We also battle with mood changes. He gets very angry sometimes. He has seizures and they seem to be in the early mornings between 5-7am. They last for about 30 sec to 1 minute. They are starting to get a little more intense.

He is such a brave little soldier. He still gets to go to school, but he is half days now. Doug looks forward to going. He still wants to ride his bike, skateboards, work with tools, but this disease is just eating at his poor little body. We have also chosen not to tell him about his condition. My family and I feel that he has been stricken with such a terrible disease that why break his heart. Let him live each day to the fullest and let him think that he always doing his best. With the help from my husband, his step-father, my sister, Judy and Dave, he is able to keep going and keep that smile on his face. We are very fortunate to have lots of help.

We often take life for granted!! My family and I have learned that the little things in life are the most memorable and the things that you used to worry about are really not that serious. Each day that Doug gets up with his smiling face is a blessing to all of us!!

Provided by Christina Zigler, DJ’s mom


Press

The Hanford Sentinel
July 29th, 2011

“Family, Friends Honor DJ Lucken, Recall Cherished Moments”
by Brandon Santiago

“Life is not measured by the number of breaths we take, but by the moments that take our breath away,” was repeated often during the memorial services held Thursday morning for Douglas “DJ” Lucken at South Valley Community Church in Lemoore. The quote was even engraved on one of the frames holding Lucken’s pictures inside….” [Read more.]

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The Hanford Sentinel
July 26th, 2011

“Local Inspiration DJ Lucken Dies”
by Brandon Santiago

“Douglas “DJ” Lucken, whose struggle against a debilitating genetic disease was chronicled in The Sentinel, died Saturday at his home in Lemoore surrounded by his family. He was 19….” [Read more]

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The Sentinel
June 18, 2010

“Make-A-Wish Grants DJ a Trip to the Track to Meet his Hero”
by Victoria Jones

“Douglas “DJ” Lucken is in a hotel in Pleasant Hill today awaiting a meeting with his hero, Dale Earnhardt Jr. at Infineon Raceway in Sonoma.

DJ recently was selected by the Make-A-Wish Foundation of Central California because he has Lafora disease, a progressive form of epilepsy characterized by recurrent seizures and progressive neurologic degeneration.”[Read more]

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The Sentinel
May 5, 2010

“A Royal Night for DJ”
by Victoria Jones

“Douglas Lucken poses with Ellie Aguilera Saturday night after the two were named prom king and queen at the LHS junior-senior prom.

In what the principal describes as a spontaneous incident, Douglas “DJ” Lucken was voted prom king at the 2010 Lemoore High School junior-senior prom held on Saturday night.” [Read more]

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KSEE News
March 29, 2010

“Lemoore Students Raise $10K for Classmate With Rare Illness”

This article is no longer available online.

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DJ is shown shortly after his first seizure at age 14.

The Sentinel
January 16th, 2010

“DJ’s Hope”
by Melissa Knopp

“He was a healthy 14-year-old boy with a smile that stretched from ear to ear. As an incoming freshman at Lemoore High School, Douglas Lucken, or DJ, was popular with the girls and had a knack for working on bikes…” [Read more]