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

John Sharp

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Channel Islands, UK

20th February 2012 – A message from John’s mother, Alice.

On the 8th January 2012, John very sadly lost his battle against Lafora Body Disease.

John had a very bad couple of weeks and I desperately tried to keep him at home, especially as it was only about a week before Christmas and I was so looking forward to having a peaceful day with just the two of us. Chris, John’s brother, was going on holiday. In the end the seizures won and there was no choice, John was once again admitted into intensive care where he suffered endless days of seizures. It was relentless and I can honestly say I never thought John would have any respite from this endless nightmare. Thankfully John had one day of peace, which was the day before he passed. He was the most courageous boy I have ever known and throughout his long illness never ever complained of what he was going through. No-one but the parent of a Lafora child could ever truly understand what it is like to live with this horrendous disease that our children are afflicted with.

John’s funeral took place on 17th January 2012 and that date happened to be the anniversary of my Uncle Tom’s passing. This gave our family a lot of comfort. The funeral was really beautiful, which might be a very strange thing to say, but it truly was and John had the best send off ever. There were about 35 members of family that came over from Scotland, England and Ireland. This was a huge support to Chris and I and I will never be able to thank them for being by our side. Also to the dear friends who have stood by us through this whole journey.

The void John has left will never ever be filled. He has left such a legacy through his courage and bravery that the fight must continue until the day comes that the cure for Lafora has been perfected.

A Mother’s heart can never heal
When part of her is gone
It’s those of us who are left behind
For them, life must go on
A song, a smell, a certain noise
Reminds us you are near
Forever in our hearts and souls
My son, forever dear

Parent Diaries

April, 2009
January-May, 2011
January, 2012

Jessica Masoner

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(November 6, 1995-February 26, 2015)
Roeland Park, Kansas

 Until about 6 months ago, my daughter Jessica’s life was just like any other 15 year old teenage girl. The morning of April 26, 2011 began like other days. Jessica and her two sisters were getting ready for school when Jessica fell to the ground and had a Tonic Clonic (Grand Mal) seizure.

We took Jessica to the ER where she was checked out and sent home. Over the next few days, she acted as though nothing had happened. I was hoping that this was a onetime seizure and that, perhaps, the seizure was related to the stress of being in a new school district.

Two weeks later, I noticed that when she walked, she would trip and fall and she started having myoclonic seizures (jerking in the arms and legs). Jessica was getting dizzy and shaky and she soon had almost constant myoclonic seizures; her poor body was never still and free of the jerking.

I called the neurologist and she expedited the order for an EEG; the neurologist told me, after examining the results of the EEG, that Jessica had Generalized Epilepsy. I was devastated and began to cry. The neurologist looked directly at me and said that this is not a big deal- that with the proper medications, Jessica would be absolutely fine and completely normal. It appeared, at first, that she was absolutely right.

After a month of taking the anti-seizure medications, Jessica got very depressed and angry. The doctor explained that those emotions were a side effect of the medication and that the situation would improve. Jessica, however, was crying all the time, and she was acting very mean to her sisters.

We noticed, at the same time, that it seemed as though Jessica couldn’t see very well and that reading was becoming increasingly difficult; her cognition was beginning to decline.

The doctor continued to say that the seizure activity was the cause of her cognitive decline and she upped her dosage of her meds. The doctor ordered an MRI and I was sure they find some type of brain damage because our Jessica had declined so much. The MRI was normal however.

We went to see a Neuro Psychologist to see if the meds or seizures were the cause of the cognitive decline. He, too, saw a huge decline in her cognition but he thought it was due to the fact that the seizures were not under control. The doctor ordered a second EEG and that is when they discovered that Jessica had rare and unusual brain activity. Jessica’s neurologist told us that this type of brain activity was only seen in progressive Myoclonic Epilepsy which is much harder to control. She explained that Myoclonic Epilepsy is caused by a genetic disease and that there is no cure. It was at this point that the doctor ordered the test for Lafora Disease.

I still hoped and believed that the doctors just hadn’t found the proper meds or the proper dosage to treat her with. In the meantime, as we waited for results, the doctor did change her medications and I saw a huge improvement. Jessica was almost normal again. At this point, I was hopeful that it was the medication that was making the difference and that, perhaps, we had it under control.

In August of 2011, Jessica’s test for Lafora Disease came back positive. This was the most heartbreaking and devastating news a parent could ever hear. The medication that had seemed to be improving her condition, no longer was working after a month and, very quickly, Jessica’s condition began to to rapidly regress.

I sit and watch my little girl lose more and more of herself each day. Over time, Jessica will lose her memory, her ability to talk, walk and eventually, she will become bed-bound.

Lafora seems to be progressing faster in Jessica than in other children with the disease. It’s been six months since Jessica’s first seizure and I already need to bathe her and dress her and help her with her every day needs. Jessica shakes so much that it is hard for her to eat and she can’t walk more than 20 feet without our assistance or without the aid of a wheelchair. Jessica has a lot of Absence seizures (spacing out) which I now believe, in retrospect, she has had for several years. I attributed the behavior to ’normal’ teenage behavior.

Jessica is no longer able to attend school so she is being home schooled.

This awful disease hugely affects our whole family in so many ways.

Because Lafora is a genetic disease, we had our younger daughters tested because there was a 25% chance of them also having this awful disease. Jessica and our other two girls are unaware of the name and details about Lafora Disease. We want to spare Jessica the added pain and heartbreak of what she is already going through.

I am missing a chunk of my heart and it will never again be whole. Words can’t explain how I feel; I am just empty.

Jessica is a beautiful and excellent daughter and she doesn’t deserve for this to be happening to her. Jessica is my first born which makes her the first true love of my life.

On November 6, 2011 Jessica turned 16. Jessica should be getting her first car for her birthday but, instead, she is getting a wheelchair. Instead of her wanting clothes, makeup and jewelry like other 16 year old girls, she asked for a baby doll on her birthday. This is what Lafora does to our children. Instead of moving our children forward, Lafora moves them backwards. Lafora take the lives of our children little by little until there is nothing left to take but their life.

Sincerely,
Jessica’s mom, Sheri

Parent Diairies

November, 2011
December, 2012

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.