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

Kris Shumate

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Sonora California
(May 6, 1986-April 3, 2010)

Kris was a happy child who was devoted to his mother, his family, and of being a service to others. Having been raised by a single parent with disabilities and financial hardship, he knew what it was like to need assistance. Because of this, Kris set his mind on a path to dedicating his life to helping others.

Kris had many plans for his future with desires to serve his country in the military as well as go to college and pursue a career as an attorney.

Kris experienced his first seizure in June 2001 at the age of 14. With several years of physical and cognitive decline and no diagnosis, many visits to neurologists and an array of medications, Kris finally received a diagnosis of Lafora in May 2005. By this time he had turned 18.

Shortly after his 18th birthday, Kris became under the care of the state of California, and was moved over the next 5 years to many different residential care facilities. His health declined very rapidly and he experienced many serious complications that resulted in many long term hospital stays. His family saw him as much as they could.

Kristopher Thomas Koch-Shumate, born May 6, 1986, lost his battle with Lafora with his mother by his side the day before Easter, April 3, 2010. He was 23. May he rest in peace.

Biography

Until Kris was stricken with Lafora, he played trumpet in the regional high school band, and he sang in the base choir and the concert choir, he loved to work with wood, and learned to play chess when he was five and was winning most teachers hearts by seventh grade. Kris loved computers and taught the senior citizens how to use them. He played basketball football, baseball, and soccer. He loved people, bringing them to church to tell them about the Jesus he loved so dear. Animals were a big part of his life. Kris loved life in general.  He used to be in  scouts and wanted to serve his country and go to college to become a pastor or an attorney.  He had a passion for helping people who are disabled as I, his mother, have lived for a while with disabilities.  At the age of 14, with so many plans for his future, Kris had his first seizure.  That was June of 2001.  We didn’t get the diagnosis of Lafora until May of 2005.

Due to my disabilities, my time with Kris is severely restricted because he is in a hospital after being abused by four care facilities.  He suffered a fractured leg, fractured skull, starvation and neglect, and deep bed sores. The regional center would not let me help or have any thing to do with his care because he was over eighteen years old.  Now he is two hours away in an acute hospital because there is nowhere to place him, nor can I bring him home due to the fact of my own disabilities, and the fact we do not live in an area that can provide the care they need. Joseph is Kris & Angel’s brother and he has a learning disability and recently had a tonic clonic seizure, however the doctors will not test him.

My children deserve to have some hope for a future. They were both filled with love and life and kindness; they had planned on devoting their lives to a future of service.  Today, they are unable to help themselves, and I am unable to physically care for them.

My children are the joys of my life. I have dedicated my life to make sure they had a future teaching them what you give in life you will receive not expecting anything from any one just a joy that you were there to help others. Life is what you make of it.  I have to believe that there is a promise of a cure on the horizon.  Kris and Angel wouldn’t want this to be the fate or destiny of any other children.  Research is the answer to all of our prayers.

– Provided by Tricia, another grief stricken mother

Kelsey Anne Harris

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Orange, CA
(November 1, 1995 – April 17, 2014)

Our Angel left us on April 17, 2014. No more thrice daily meds. No more weekly blood tests. No more seizures.

Kelsey fell ill with pneumonia and in spite of antibiotic injections she was unable to take in enough oxygen. The ventilator in the emergency room was not enough. Kelsey died peacefully with her family and friends around her. Her fight is over and we are heartbroken.

Kelsey was born to Frank and Bridget Harris on Nov. 1st, 1995 in Orange, Ca. In her early childhood Kelsey lived in Irvine and attended UCI’s childcare centers and Springbrook Elementary School before moving to Tustin in 2004, where she finished elementary school at St. Cecilia’s Catholic School.

Kelsey attended Pioneer Middle School and ultimately Beckman High School where she was an honors/honor roll student. She was a senior and scheduled to graduate this year with her fellow classmates.

Kelsey was a perfectionist in every way, as evidenced by her work both within and outside of the classroom. She loved art, helping children and sports of every kind, both as a participant and an observer. She played baseball, softball and basketball but soon determined that soccer was her primary love. She played for the Irvine Premier soccer club, ultimately earning a position as goalkeeper for Beckman High School girls soccer team. While she enjoyed watching every sport, she had a special love for Angels baseball.

In addition to her parents, Bridget and Frank, Kelsey is survived by siblings Erin (24), Ryan (23), Nolan (17) and Mark (13).

Kelsey was an incredible daughter, sister and friend and will be missed by all who were fortunate enough to have known her.

Learn about the Kelsey Harris Memorial Cup

Biography

Kelsey Harris

Kelsey’s story is tragically similar to many others you can read about on this website. She was born healthy in 1995. She is the third of five children and as she grew, we quickly began to see her individual personality. Even at a young age, she demonstrated a very demanding personality, a perfectionist in virtually everything. She was always a top flight student and as a result, a favorite among the teachers. Her favorite academic pursuits continue to be art and reading. She had natural curiosity, loved going to the beach and to the pool. Always active and independent, she was the poster child for the often heard exclamation “I can do it myself”.

The migraine headaches began when she was 12, periodically leading to tunnel vision and short blackouts. When she was 13 Kelsey began to suffer a migraine during a basketball game and quickly became completely unresponsive. She was awake and her eyes open, but she was almost catatonic, not responsive to any external stimulation. At the hospital she did not react to my presence, did not turn her head or move her eyes. Only when they performed a spinal puncture to test for meningitis did she let out a scream. I was overjoyed that she had “snapped out of it”. A few minutes later I witnessed the seizure. Only because I had suffered from epilepsy as a teen did I recognize the small shaking to be a seizure. The doctor immediately gave her an anti-convulsion drug and we were directed to a neurologist and Kelsey began taking daily medication to control the seizures. Still, we were hopeful. Certainly as my epilepsy passed, Kelsey’s would as well. Along with the medication came the modest drop in her grades. She had always been a perfect or near perfect student. However when her grades began to slip, I presumed this was due to the medications. For a bit over a year she seemed to be moving along okay. At age 14 and with two older siblings, her thoughts moved to driving. Indeed when she was 15 and had another seizure after nearly two years of being seizure free, she cried, realizing that this reset the calendar and that she was again two years away from being able to drive. By this time she was still a very good student, but not the nearly perfect student she had once been. This began our journey through what another parent has aptly described as “prescription elimination”. And the difficulties intensified. In the 10th grade she suffered more seizures, often on the soccer field where she was the goalie on her high school team.

Early in 2012 she was admitted to Children’s Hospital of Orange County (CHOC) for week long epilepsy monitoring. By this time she was 16, with a reasonably normal high school experience, goalie on the school soccer team, going to football games and dances. But her seizures were more and more frequent and her grades continued to fall. Still, we anticipated that she would outgrow the seizures and that once she was off her medications her grades would return to normal. This, after all had been precisely my experience. But her physicians indicated that the monitoring showed such widespread activity that they did not expect her seizures to end, that she would be on medication her entire life. This was the first heartbreak. Unfortunately, even with changes in her medication, the seizures continued. So too did the hospital stays. Over the six months from April through September, Kelsey spent over two months in the hospital with her physicians running all manner of tests to better understand what was happening.

We received the confirmed diagnosis of Lafora for Kelsey in mid-October. Since that day our lives have turned in a direction that I previously had not thought possible. No day goes by without tears; no day goes by without the tempering knowledge that our beloved daughter is stricken with a disease with no cure. Like the movie Ground Hog Day, we wake up every morning and we are still heartbroken. Kelsey’s cognitive decline seems to be accelerating. Our 17 year old daughter who this time last year was taking AP and Honors courses, now spends her time coloring in cartoon books more appropriately suited for a child half her age. Her normally busy schedule, once filled with school, practices, games, dates and dances is now filled with daily physical and speech therapy, weekly blood tests and twice daily medication to fight off the seizures. Still, she seems happy and joyful, greets everyone with a smile and shows her love for everyone with the sweet and innocent attitude of a much younger child. The only salvation is that she is unaware of what is happening.

All we can hope for is a miracle development that will give her back that which is being taken. All we can hope for is a miracle development that will give us back our daughter.

Bridget and Frank Harris, Kelsey’s parents

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