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

Jessica Faludi

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Sweden

(April 18, 1974- December 9, 2015)

 

Jessica lived with Lafora disease for nearly 25 years and both she and her mum, Vera,  have been an inspiration to the families of Chelsea’s Hope as they have provided  guidance, love and support to all of us who are walking the same path.

May the memory of Jessica brighten the hearts of all who knew and loved her.  She is an angel watching over our children and guiding the researchers in the discovery of a cure for Lafora Disease.

Biography

This is my lovely Jessica, who so bravely has been fighting Lafora Disease for 17 years. In spite of the horrors she has been through during these years, her eyes are sparkling and there is a friendly smile for everybody.

She had dreams like all teenagers, when the disease struck here. First and foremost she wanted to be a mama with many children. With her caring attitude she would have been the best of mamas.

Now she cannot talk, walk, eat or turn in bed, but she enjoys the everyday life with music, listening to discussions going on around her and outings with the car.

Contrary to the sinister prognosis, she has become cognitively better these past 8 years and she is now fully aware of everything going on around her.

Jessica is 33 and she has lost so much time, so please let there be gene therapy very soon. She is full of life and energy still and deserves some beautiful years before it is too late.

I would like to thank Professor Delgado-Escueta and Dr Berge Minassian for the encouragement they have given during the years when we still knew very little about the disease and they informed me of the milestones they reached over time.

– Provided by Jessica Faludi’s Parents

 

 

 

 

 

 

Parent Diary

January, 2014

Janine Lee Rodriquez

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“Dyer Woman Touched Many Lives” by Mary Wilds
Times Correspondent
July 5, 2011

A funeral Mass for Janine Rodriquez was celebrated at S.t Maria Goretti Church in Dyer, with the Rev. Charles Niblick officiating. Memorials may be made to www.chelseashope.org

Janine Rodriquez was “a treasure”, said her mother, Marianne.

Rodriquez, who was 34, suffered from a genetic disease called Lafora, a form of chronic epilepsy. Though unable to talk much of her adult life “we felt that her life and her spirit spoke more words than any verbal words.&8221;

Rodriquez had a normal life until a month before her 16th birthday. As the disease progressed, “her cognitive functioning started to decline rapidly,” her mother said. “She had great awareness, yet she wasn’t able to do anything for herself.”

Rodriquez lived longer than doctors originally predicted. “Up until the last day, she loved life,” her mother said.

Rodriquez, of Dyer, had been an honor student and a Lake Central Centralette. “She loved to dance and was a very strong-willed individual. She choreographed some of the group’s routines, her mother added.

Rodriquez wanted to be a model, and her mother helped her get a start in that, getting her into a beauty pageant when she was 15. She’d finished runner-up. She’d also been in gymnastics and ice skating.

Rodriquez was a figher, her mother said. She got her high school diploma with her class and walked across the platform at commencement. When her home health aide got married, she was a bridesmaid and walked down the aisle with a groomsman. She also was also a bridesmaid for her sister Michelle.

Rodriquez loved the holidays, and the family loved decorating the house for her. She loved watching videos and listening to music.

“We watched the last episode of ’American Idol,’” her mother said. “I’d look at her and she would laugh and smile at me. I felt that her smile was greater than a ray of sunshine.”

Biography

Janine was a beautiful, intelligent, caring, outgoing child growing into a remarkable young lady. She exhibited all normal physical and mental development with no signs or symptoms of a disease process until the age of 16.

She loved to dance, started at the age of three, and continued till she was unable. She was in various competitions and received trophies for her performances. She was able to have two great years in high school as a Centrallette performing with the school marching band twirling flags and winter color guard. Growing up she also loved ice skating, gymnastics, horseback riding, and swimming.

Janine loved school and was in the National Honor Society. Her favorite subjects were English and History and she had the ability to draw. Very smart! I can remember her reading before she started school. She didn’t have to work hard to achieve, just a natural. Janine wanted to go to college and talked about her interest in archaeology, and continuing in dancing, and modeling. She was in a beauty pageant at the age of 15. We never dreamed that her dreams would end so quickly.

She was basically very healthy, childhood sicknesses, normal colds, sore throat, and chicken pox. Toward the end of her sophomore year, actually a month before her 16th birthday in April, 1992, Janine started complaining of seeing colored spots occasionally and having sudden jerks. She’d mention walking with her books in arms, a sudden jerk and dropping them or writing in class, and a sudden jerk with pencil flying. Her assignments would take longer to finish and she’d be putting in more hours of studying, less sleep. Being a perfectionist, her grades were very important to her and we thought maybe problems were related to stress.

Then one day she fell to the ground jerking, she was awake and was able to get up remembering exactly what happened. Not understanding why this was happening, we took her to her GP doctor, who ordered an EEG and informed us that it was abnormal showing seizure activity. Little did we know that this was just the beginning of the worst to come.

We started her out on a low dose of seizure medication and things seemed to be better, had her 16th birthday party in May and finished her sophomore year. Two months later she complained more of seeing colored spots and had her first grand mall seizure. Her cognitive functioning as far as motor skills and her ability to keep up with others started to decline more. School had to be put on hold. Doctors felt a major underlying cause for her problems and needed a diagnosis as soon as possible. Numerous tests were done, but not until we did a skin biopsy of her sweat glands was then we found out she was diagnosed with Lafora, PME, and there was very little knowledge about this disease.

In the last 19 years, we have experienced so much with so many chapters of a strong willed, determined, person, fighting a disease with a love of life wanting to be accepted reaching out for that quality of life with so much awareness locked in and just wanting to get it out. Alongside her were family and friends who understood, doctors, who she depended on to help her through her journey. She said to me once, “mom, something is happening to me and I can’t control it and I don’t like the way I am feeling”.

There were always generalized seizures, no matter how much medication, but there were good days and bad days and on the good days she would be able to eat better, get her thoughts out quicker, walk better with assistance, sometimes even do things unexpectedly that we thought she would never do again. It just depended on the seizures at the time. There’d be drop attacks, status epileptus, all we could do was treat the symptoms at the time with seizure medication or antibiotics. We spent our time focusing on the present rather than the future.

Eventually she required a g-tube for her feedings, the nourishment she absorbed met her needs and after 10 years we tracked her in an effort to help with her secretions and ventilator to assist her breaths. It’s what she needed and she adjusted. Infections would become a challenge. Janine was a fighter and she wanted to live.

Despite all her issues, she continued to look beautiful, still have good and bad days, but aware of her surroundings, people, smiles as beautiful as ever, she loved to have her picture taken, listen to her favorite music Janet Jackson, Whitney Houston, Celine Dion, watch videos, enjoyed American Idol and Dancing with the Stars, all her musical dolls. We kept her involved with all the holidays, and her favorite was Halloween and dressing up. She loved being with her family and nurses.

We made sure, especially with the help of her neurologist, that Janine had whatever quality of life she deserved throughout this disease. She loved people and even though her life was compromised, what she could have of it, she truly appreciated.

I am writing this to make people aware. LAFORA DISEASE IS A TRAGIC DEBILITATING DISEASE no child should have to experience this. No family should have to go through this. It is a physical, mental, emotional, financial challenge. I always tell people the hardest is trying to go on living, keeping a family together in a normal life, when all around you the circumstances are abnormal, but “love conquers all” and perseverance prevails.

A special thank you goes to Chelsea’s parents and friend for starting Chelsea’s Hope and to all those involved in the research of this disease. We need to keep the funding coming. We need the answers for the children suffering, for those children who have yet to be afflicted, and for the memory of all those like Janine who have passed and wanted to live.

Marianne Rodriquez, mother of Janine.

This Mother’s day picture taken May 2010 is of Janine, her sister Shelly and mom, Marianne.

Janine was in the hospital when this picture was taken. Her mother said to her “Jesus Loves You”. Janine swung her head up and looked at the camera and smiled. April 2011.

Janet Lee Harris

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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

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(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