Jessica Nicole Ambroe

28, Johnstown, PA USA

2022 marks 15 years in our fight against Lafora.

Jess was a mere 13 years old when she had her first seizure. She will be 29 this year, so she as been battling this dreadful monster for half her life. As the years march on, Jess has gone backwards in time and the dementia has overtaken her. She functions with the mentality of a young child in a woman’s body, and often cries herself to sleep as she is still acutely aware that her life is not as it should be. She still harbors a longing to fall in love, get married, and have children. She still wants to go to college and drive a car and walk unencumbered. She dreams of a day she no longer has to swallow 38 pills to get through each day alive and free of seizures.

She has to wear a BiPAP with oxygen to assist with her breathing as repeated aspiration pneumonias have permanently scarred her once healthy lungs. However, despite all life has thrown at her, Jess remains steadfast in her strength and love for her family. She is quick to compliment you and tell you she loves you. She sings all her favorite country songs out loud at full volume and binge-watches her favorite TV show “Supernatural” on Netflix. She still eats and drinks and loves honey-thick Diet Coke and hot wings.

We try to focus on the blessings we do have versus the life we once dreamed of for her, and she for herself. Jess, like all the others, deserves a chance to thrive, not just survive. There are treatments available, but  the research has stalled.

“Time is not our friend, and we beg you to keep the research alive so that we can watch our kids grow to be what they dream.” says  Jess’s mother, Michele Ambroe

Jessica’s story from Sep 24, 2017

LAFORA. For 99.9% of the population, the word means nothing. It could be an exotic locale, foreign name, or strange plant species. I never, in my worst nightmares, could imagine the pain, suffering and heartbreak that would come in knowing what Lafora is. Our world has now become engulfed in the reality that is Lafora Disease. Jessica, our beautiful, intelligent, athletic and loving 15 year-old daughter, was diagnosed with Lafora Disease on February 3, 2009.

Jess’s story is not unlike any of the others you will read about on this site. Until fall of 2008 she was an honor roll student, cheerleader, best friend and star volleyball player in addition to being a loving daughter, big sister, granddaughter and cousin. She had an infectious laugh, a sparkle in her eye and a zest for life. She often talked about turning 16 and driving…her plans to go to college and become a teacher just like her Dad…of the babies she wanted to have and raise….of her fairytale wedding. Those dreams have all been put on hold because of the curse of Lafora Disease.

Jess began having myoclonic jerks of her arms in the summer of 2007. Being a registered nurse, I did have concerns though they never really bothered her. We took her to her pediatrician in September. Her neurological exam was normal, but they did agree to make a referral to a neurologist. Since things weren’t really getting any worse, we put off making the appointment and Jess started her 8th grade year at Ferndale Area High School in Johnstown, PA full of plans for junior high fun. In December 2007, our family moved. The move was not only physically stressful, but emotionally stressful for Jess as we were moving across town and away from her best friend who lived right across the street. The night of the move, we were all unpacking and Jess was alone in her room. It was then she had her first grand mal seizure, though we didn’t know until later since it was not witnessed. We repeatedly called her to dinner, and when she didn’t respond, we found her drooling and awake, but unresponsive, in her room. She came around a short time later. At that point, we really had no idea what was happening, but knew something was seriously wrong. We called the doctor, who recommended we make the appointment with the neurologist soon. Our appointment was made for March, but in January, Jess got tonsillitis and had a fever of 104. That morning, she began jerking uncontrollably and experienced knee-buckling, which sent her to the floor. We took her to our local ER, where she underwent a CT scan, blood work, and various other tests. We also finally got a neurology consult, and an EEG was ordered. The EEG was grossly abnormal. Based on history and symptoms, he diagnosed Jess with juvenile myoclonic epilepsy. We were initially relieved…JME can generally be easily controlled with Depakote. Jess started on Depakote and we thought “OK…we can deal with this.”

The Depakote worked for about a month until the jerks came back with a vengeance. The doctor added another drug, and it got worse. At this point, we noticed Jess beginning to have problems in school. Homework, which used to take a half an hour, now took 2 hours. She began to seem spacey and out of sorts. We chalked it up to the side-effects of the medications, but made an appointment with a pediatric neurologist/epileptologist at Children’s Hospital in Pittsburgh for a second opinion. We went to her in May, and she confirmed the JME diagnosis. She added another med, and things were OK until late summer. When the uncontrollable jerking started again, we contacted the doctor who scheduled her for another EEG. The day of the EEG, Jess couldn’t walk, had to be given a bath, and couldn’t feed herself. When she was finally hooked up, the EEG was so abnormal they had to give her IV Ativan to break the pattern. After a few days, it calmed down. The doctor started her on another med and things were OK and we went home with the idea that Jess had a refractory case of JME that was resistant to meds.

Jess started her freshman year and into the fall, the mental fogginess, cognitive slowing and seizure activity increased to the point we had to take her out of her honors classes and start an IEP (special education). An evaluation by a neuropsychologist showed extreme slowness and an IQ of 55…this from a straight A, advanced classes student. My Mom (who is also a registered nurse) and I began to suspect we were dealing with something much more terrible and urged our neurologist to perform further tests. She did, and though we didn’t know exactly what she had ordered, the blood work was done in early December 2008.

During the time we waited for the results, Jess continued to deteriorate. She had her first witnessed grand mal seizure, the jerking and dropping got worse, and now included head-drops and trunk drops, and she was no longer able to fully function in school. She was sleeping 12-14 hours a day, and when she was awake, it was like having a preschooler. She had to monitored constantly. Nobody could understand this as all our research indicated that those with JME could lead relatively normal lives. We were all incredibly saddened and frustrated….and, at that point, we knew that the symptoms had to be from something much more dark than the side effects of the medications.

On January 22, 2009, we had an appointment with our neurologist, at which time she shared the results of the tests done in December. All were OK except one, which showed she had one mutation known to cause Lafora Disease, and 2 mutations on the same gene of “unknown significance.” We were lucky enough to have a neurologist who was familiar with Lafora, but she also knew it was a recessive disease that required 2 mutations; Jess only had the one known. In consulting with other neurologists across the country, she couldn’t draw a definitive conclusion as to whether Jess had Lafora because nobody knew what the other mutations meant. We left the office thinking she had a mild case of Lafora. After doing the research on Lafora, we were relieved that nobody thought she had a full blown case as we couldn’t even begin to imagine that our daughter had a progressive and fatal disease as sinister as Lafora. In retrospect, that 12 days of ignorance was bliss.

I, however, was not content to rest on those laurels and there was always something nagging in me to not leave this alone. My daughter simply was not the same person I had always known and loved. So, I began to dig deeper. In my research, I found this website and found contact information for Dr. Berge Minassian, who is also one of the foremost authorities on Lafora Disease. I sent him Jess’s test results, not really knowing what to expect, and the reply I got confirmed our worst fears. Her second mutation, though not seen before, is disease causing. Our daughter was diagnosed with Lafora Disease on February 3, 2009.

Lafora is an ugly monster of a disease that steals the life of active healthy children and turns everyone’s world upside down. Jess, who rarely had anything more than a cold, must now take 22 pills a day to control seizures. She hasn’t been to school since February, and her once wide open world has narrowed to a small tunnel. We must, however, look for the light at the end of that tunnel…a light that depends on getting the word out and finding a cure for this crazy senseless disease….a light that depends on YOU. The researchers are headed in the right direction. We all need to band together to make sure they get there so nobody else has to endure the hell that is Lafora. Jess is still in the early stages of the disease, and still has a chance to benefit from treatment. We beg you to join us in this journey of hope…Chelsea’s hope…and Jessica’s hope.

Provided by: Michele Ambroe, Mom to Jessica Nicole Ambroe


Press

Persons of the Week: Three Ferndale Seniors Carry on Hockey Classic to Help a Friend
The Tribune-Democrat, Johnstown, PA
Frank Sojak
February 5, 2012

The Ferndale Area High School hockey team has two goals in mind when it takes the ice Friday night at the Cambria County War Memorial Arena. [Read more…]

Ferndale Captures Win in Jess Ambroe Classic
The Tribune-Democrat, Johnstown, PA
Shawn Curtis
February 11, 2012

The listed opponent for Northern Cambria in Friday Nigh’s Laurel Mountain varsity hockey game at Cambria County War Memorial was Ferndale.

What the Reapers encountered was an emotional and purple-clad Jess’ Army.[Read more…]

 

 

 

 

NASCAR Racecar Design Contest
March 8, 2011

WJACTV News

To watch the video, click here


Johnston Family Hopes Promotion Shines a Light on Rare Disease
March 8, 2011

Daily American
by Dan DiPaolo

“Family and friends of 17-year-old Jessica Ambroe are hoping to shine a national spotlight on Lafora disease with the help of NASCAR…”
Read more

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Purple Day for Jess
May 9, 2010

WJACTV News

“Alone we can do so little, together we can do so much.” See how students in Pennsylvania are making a difference in bringing awareness about Lafora.

To watch the video, click here

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Jess’s Army Joins Chelsea’s Hope
December 2009

” Savage Employees Have Joined the Fight”

“Salt Lake City, Utah based Savage Services, a transportation and materials management company with operations throughout the U.S. and Canada, has joined the fight against Lafora disease. Jessica Ambroe of Johnstown PA, who is afflicted with Lafora, has had ties to Savage since she was a toddler…”
Read more about Jess’s Army

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The Daily American
Thursday, October 1, 2009

“Johnstown teen gains support in fight against rare disease”
by Dan DiPaolo

“When Jessica Ambroe of Johnstown was diagnosed with Lafora disease in February, it allowed her family and friends to put a name to the affliction they had struggled with for more than a year…”
Read the article in the Daily American

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Conemaugh School of Nursing Fundraiser
September 3rd, 2009

“Conemaugh School of Nursing students hold fundraiser to benefit local girl suffering from rare disease…Johnstown, PA”
Read the article

View the flyer


Parent Diairies

June, 2009-June, 2010
December, 2012

Kain

Kain Brody Unzicker

Kain Brody Unzicker was born on September 23, 2003, to Dennis Unzicker and Christina Hernandez at Desert Regional Medical Center in Palm Desert, California.

Kain grew up perfectly healthy until he was 10 years old, that’s when he had his first seizure. He was misdiagnosed with Juvenile Myoclonic Epilepsy (JME) after being assessed by a doctor. He started having grand mal seizures about once a month at first, but the medications they prescribed didn’t seem to help and they got more severe and closer together.

He had his first seizure over 10 minutes in the 8th grade at school, and another less than a month later. We kept trying higher doses of medicines and changed them many times, until we found the combination he is on now, that seems to make them less violent and shorter in duration.

In 10th grade, the seizures were happening more frequently, and his neurologist at St Luke’s Children’s Hospital suggested a VNS implant, genetic testing and a second opinion from Seattle Children’s Hospital.

We received the diagnosis when the results came back, and they found the EMP2A mutation. They decided to perform a biopsy to confirm the presence of Lafora bodies, which came back positive. This was extremely devastating to hear that it wasn’t JME but in fact a death sentence with Lafora disease.

A terminal neurological degenerative disease that has no cure. They also advised that he may only live up to his mid-twenties before passing away from uncontrolled seizures or pneumonia.

 

Kain’s cognitive decline started to effect school in the 9th grade, but until his proper diagnosis, it was thought his troubles were related to medication side effects and mild brain damage from the longer seizures he had had. By 11th grade, the seizures became more frequent, and it was no longer safe for him to ride the school bus because laws prohibited him from carrying rescue medication on the bus, and the drivers were not qualified to administer them, his Doctors also deemed continued education unnecessary.

Kain was very adamant and determined to finish school, so we agreed to transport him ourselves, and his teacher learned how to administer his medication.

Against all odds, Kain graduated at 17, before his decline became more severe. Kain is very proud he accomplished graduating at Idaho City High School, class of 2021 and receiving his diploma. He achieved graduating during a pandemic and while the progression of Lafora disease continued. He never let anything stop him.

Dennis and Kain’s whole family were very proud and happy to see him graduate. Father Dennis shared, “He did it under so much pressure and under circumstances most kids would never have to worry about.

Unfortunately, Kain is now wheelchair bound and suffering from ataxia, the lack of muscle control or coordination and dysphagia which is where he can no longer swallow normally. Kain was given a permanent Gastro tube port for medication, food, and hydration.

He rarely talks anymore and when he does, he struggles tremendously. The myoclonus is affecting every muscle in his body, he can’t dress himself or bath and needs help going to the bathroom.

Father, Dennis stays home full time to care for him. “It’s the hardest thing I have ever done, but he is worth every second of struggle, and every tear. He can’t do much of anything these days. I watch movies with him a lot and listen to music. I take him everywhere I can to enjoy outdoors, but busy places are difficult for him.” 

Kain is now 18 and is still waiting for a cure!

Please help by creating awareness and donating to Chelsea’s Hope Lafora Children Research Fund where the mission is to fund research into treatments to find a cure.

Kain is next to a 1967 Corvair.  His family has a passion for restoring cars.

Kain’s love of cars was passed down from his dad and uncles.  Dennis (Kain’s father) shares, “It started when he was old enough to say “car”, he would love to play with them, see them, and ride in them.”

 

Kain was granted a Make-A-Wish and choose to spruce up his Corvair with a paint job and complete the interior. He chose Cobalt Blue for the paint and loves the color.  The interior is blue and white.

For the Make-A-Wish reveal, shirts were created with “Team Kain” for this spectacular event.

Dennis and Kain did a lot of the mechanical work during quarantine.  They fixed the wiring, lights, tuned up the motor, making sure it would run properly.

Kain was driven to graduation in Covair, he said  “That was really fun”.

 

 

 

Anissa Merriam

Anissa Merriam

Anissa Merriam was a vibrant teenager, a talented artist who loved anime and excelled in honors classes. But at 14, she started dropping her pencil and her hairbrush, and struggled with her studies. Something wasn’t right, she told her parents.

Eventually, Anissa was diagnosed with a rare, neurodegenerative form of epilepsy that strikes in early adolescence, causing intractable seizures and childhood dementia. Most patients die before 30. Today, Anissa, at 23, likes to dress up like 1930s child star Shirley Temple, watch Disney movies and tap dance.

Anissa suffers from daily seizures and childhood dementia. She has a g-tube placed in her stomach to use for all her medications and she experiences ongoing cognitive decline along with swallowing issues.

At the age of 23, Anissa receives full-time care at home from her family and nurses. One of the most heartbreaking aspects of Lafora disease is that it robs seemingly healthy teens of their full potential.

Anissa is a talented artist and had several pieces of art selected for art shows during high school. In fact, she dreamed of studying art in college and using her talent as she reached adulthood. Anissa doesn’t draw any more telling her mom that she is unable to draw because her myoclonus, jerking motions, make it difficult to use her pencil and she has seizures while drawing due to Lafora. She often struggles just to write her name. Anissa also expresses her sadness about not having the experiences of driving, college life, and her independence like other young adults her age.

“This is a disease where we watch them go backward.”

Anissa’s doctors have informed her family that in time and without a treatment or a cure, she will lose her ability to walk and talk. Most children with Lafora do not survive past 10 years from the onset of symptoms.

Helping fund Anissa’s fight for treatment will slow the progression of the disease and give her time as she waits for a cure.

She has participated in a two-year natural history study to collect data on the progression of the disease at UT Southwestern Medical Center in Dallas. The information gathered has established biomarkers to help drive a clinical trial that was to begin in 2021.

Unfortunately, the clinical trial was delayed due to covid and other FDA requirements. The delay of this clinical trial was devastating to the family because Lafora progression never stops.

Recently, Anissa and her family were given hope again with a potential treatment that could help slow and possibly stop the progression while she waits for the clinical trial to begin, a biotechnology company with the promising treatment could help not only Anissa but other Lafora patients.

The only thing holding this process back right now is funding and since Lafora is ultra-rare, there is no funding to help to move their treatment forward to patients.

Your donation could make this treatment possible for Anissa and others who suffer from this horrific disease.

Time and slowing the progression are what Anissa an all Lafora children urgently need to make it to delayed clinical trials.

Please read this Washington Post article dated June 4, 2020 sharing Anissa’s Lafora story. It was written during covid when trials and research labs were shut down.

Washington post story

Donations can also be made on this website by clicking Donate, PayPal or by mail to Chelsea’s Hope, PO Box 348626, Sacramento CA 95834

Please note on behalf of #teamanissa

 

 

 

Gehad Breadiy

Gehad at 12

Mother, Azeza Kasham from Ann Arbor, Michigan is pleading for support in the fight against Lafora disease. Mother of three, has already lost her first-born son Haitham to this devastating disease at just 16 years old in 2019 and is now fighting for her second son Gehad, also diagnosed with Lafora disease who is only 12.

“Loosing one son to this disease is enough and now the heartache is harder to bear, going through it all again with Gehad.”  cried Azeza Kasham.

A cure didn’t come in time for Haitham, but there is hope for Gehad. Lafora disease is a single gene disorder. By replacing one gene you can cure the disease. Scientists have shown they can cure the deadly disease in the laboratory. Families like Azeza’s are desperate to bring these treatments out of the labs and into the children who need them.

Prior to this diagnosis, children like Haitham and Gehad were like most other teens in the USA, attending school full time with no signs or symptoms of any abnormalities. They were healthy and normal, had social relationships with family, friends, and peers.

Haitham deteriorated rapidly in a period of about three months where he lost his ability to walk or speak sentences before his passing.

“One day he just fell on the floor and had a seizure” said Azeza Kasham

Haitham Breadiy

In 2017, Azeza reached out to Chelsea’s Hope Lafora Children’s Research Fund for support when Haitham was diagnosed and again in 2019 with Gehad. Small donations and emotional support have been provided by our small organization to help care for Gehad but more is needed.

Azeza had to stop working full time to care for her family and her husband who is recently in remission from Hodgkin’s Lymphoma, so not only has it been hard emotionally, the family is not able to financially support themselves due to these illnesses.

Our goal is to raise awareness and much needed funding to continue our mission, research and turn them into therapies. Chelsea’s Hope has done so much in recent years and we are almost there….hope is closer than it ever has been before!

Mother, Azeza with Gehad