Shamoan Ahmed

Shamoan Ahmed attends Chilwell School; he has a lot of blank spells lasting seconds. He has had a number of over night epileptic seizure maybe caused by tiredness. However, at the moment he is not on any anti epileptic medication he chooses not to go on it. Shamoan will be 14 years old in May 2009. Every morning I check my son is okay I thank my lucky stars and continue with my day with the hope he will continue to keep going as long as possible. Shamoan is on a low carbohydrate diet.

Shamoan loves football and playing on play station games, guitar hero world tour being his favorite at the moment. Shamoan’s friends are always around the house. As much as I am not keen on having youngsters around my home all the time, I think the day my son is not her I wont see any of them. I take every day as it comes and do my very best for him every day. I can accept for my children to be poor or homeless or even go without necessities in life it is so difficult for my children to know that they have the same medical condition as their sister. Worse still they saw her suffer and die. No child should have to see suffering and no child should have a ticking time bomb hanging over them. I only hope and pray that treatment and a cure is available one day for Lafora. My children have a death sentence for something they have not done. If research does not take place and treatment does not become available I will lose my other two valuable assets that I am trying to hold on to so desperately.

– Submitted by Shamoan’s mother, Shekeela Ahmed

Milana Gajic


To be and stay a friend, even when it is most difficult, is certainly, successfully passed, big exam in life.

Milana is our younger girl, now 16 years old. She has, unfortunately, also become ill with Lafora disease, with side symptoms appearing even before her older sister. Diagnosis was set only when Tatjana, in full health, promptly and brutally showed symptoms followed by a rapid progression. The two of them, along with a few more families around the world, have “poked” the statistic possibility of recessive inheritance.

Her first crisis of conscience she had at the schoolyard (according to other students description, probably a clonic seizure) when she was 12. We made some tests – MR and CT of the brain, the EEG showed some changes regarding which the neurologist recommended not to take any therapy unless another seizure should appear. For almost two years nothing negative happened and we were convinced maybe it was only a temporarily puberty crisis. Unfortunately, another seizure appeared, so we reached for additional consultations at one of the largest pediatric institution in Belgrade. It was then Lamictal was introduced as a therapy. Dramatic events followed – one day, during the eighth grade, Milana came back from school, throwing her bag and throwing herself on bed heavily crying. Asked what happened, she answersed: “Mum, I forgot how to write.” Her characteristic as a child was her great persistence in everything she was doing. These days at home she wrote a lot and visited school normally, telling us how her hand would occasionally shake while writing. A drama followed during dancing lessons she liked so much – a few weeks in line, just before the end of every dancing lesson in the evening she had clonic seizures. We tried to convince her to leave dancing lessons, but she was determined: “That’s out of the question, I will not let these clonic disturb my life. ” She persisted, went all the way, past her exam and WON THE CRUEL LAFORA DISEASE FOR THE FIRST TIME and we didn’t know it at that time. We would like to use the opportunity to express our gratitude to her teacher Dijana from the dancing school “Bolero”, a young girl who has supported Milana to persist. Deterioration of her condition kept worrying us, so we reached for another consultation, this time with Primarius Sabol from Zagreb. He helped us a lot, excluding Lamictal, which only made the clonic worse, just as he suspected.

There is a saying doctors should respect: “God, help me to know where my limits are.” Exactly that way our colleague Aleksandra Serdar, a neuropediatrician, acted suggesting us to meet for consultation Professor Jovic from the Neurology Institute for children and youth in Belgrade. It was the end of the school year 2007 when our older daughter Tatjana had her first symptoms. Professor Jovic and his associates set up the diagnosis: MORBUS LAFORA. We were devastated by this news, but didn’t have the right to despair asking ourselves – HOW, WHY… We only could gain what’s left of our strength and start dealing with the cruel disease our girls were suffering of.

Meantime, she successfully finished another school for talents UMS and had a performance at the National Theater of Republic of Srpska; her first UMS mini book was created. Previous years she used to train tennis, liked to ski and enjoyed racing on ski trails against her sister and friends. She also, with success, used to visit school of English language at the Cambridge center and was a member of many school sections at her primary school. She always used to be a creative child so she, her best friend Dado and others, recorded “serials” and made performances at the schoolyard during summer holidays. She liked to read and write diaries a lot, just like her older sister.

Her class master once, at the very beginning of the school year, commented how she could already evaluate her with mark 5 (highest mark) for the end of the school year. Her math teacher has perhaps first noticed there’s something going on with Milana. He noticed her having strange oscillations, sometimes being first in solving hardest math problems and sometimes ”blocking” when dealing with the simplest ones. In all this she was definitely stopped in the second half of the ninth grade. In all that followed (slowness of thinking, more difficult monitoring of teaching, more difficulties with writing…) she was immensely supported primarily by her class master Branislava Tabakovic, her friends and the director and the entire collective of her primary school “Aleksa Santic”. A big THANKS to everyone having understanding for something, which none of us by that time fully understood. Milana, unfortunately, could not attend secondary school and we are still telling her the school is getting renovated… What she is now left with is reading books to her older sister and she is doing it with great love, although slowly, but with enormous persistence, for hours. Now she is having more difficulties to walk, even with assistance, she needs help to dress and feed, but most of all she needs attention, a lot of love and companionship. A mother of a child who is suffering from Lafora disease commented: “ALL THEIR FUNCTIONS FAIL SLOWLY, BUT THEIR NEEDS FOR ATTENTION AND LOVE INCREASE EXPONENTIALLY.”

Now she has large fluctuations in her behavior. You never know when it’s more difficult, is it when she’s intellectual worse, satisfied with little things, smiling, or is it when she’s quite well, but at the same time fully aware of the situation she found herself in, but does not reconcile with it. Recently she commented weeping: “Mom, I can not stand this any more” … But … she has always had the unconditional passion for school and all that allows you to learn more … dreamed to become a model … she has always been, without much effort, an excellent student and now she has slowly but surely handled lessons on how to fight with what has come upon her. In the end, isn’t one of the definitions of intelligence – ability to orientate in unfamiliar circumstances? WE ARE CONVINCED THAT LAFORA, AS MUCH AS BLASTING IT MAY BE, IS UNABLE TO BREAK DOWN ALL OF THIS CHILD’S POTENTIALS AND WE BELIEVE THAT MILANA, WITH HELP OF ALL OF US, IS GOING TO BEAT LAFORA …

– Provided by Milana Gajic’s Family

“We are the Gajic family from Banja Luka in Bosnia and Hercegovina. Our two girls, Tatjana and Milana are suffering from the Lafora disease.”

Read more about the family on their website: Let Us Beat Lafora

Jessica Nicole Ambroe

15, Johnstown, PA

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


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


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




Purple Day for Jess
May 9, 2010


“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


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


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


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

Grant Pinder

July 3, 1985

Grant was what we were waiting for, a son. I lost my first baby which was a boy, so he was even more special to us. He was a child that loved to go outside, from the time he was born. As he grew nothing much changed. Every Saturday we always took our family in the boat. Grant’s favorite thing to do was to go diving. He loved fishing too, but diving was his favorite. Grant found a job doing what he loved, diving and catching fish.  He went fishing for a few years but started to go down health wise, and he wasn’t able to keep that job. He started having jerks and dropping things in the morning when he was 17 years old. He lost a few more jobs because he was getting slower and slower in his movements.  A few days before he turned 18, he started vomiting continuously. We took him to the doctor here in the Bahamas who sent us to Florida where he was misdiagnosed with Juvenile Myoclonic Epilepsy, which was understandable be cause symptoms present the same as Lafora.

Grant was started on Depakote and for the first few months was alright; then he worsened. The doctor increased the Depakote dosage which worked for an additional few months until he worsened again. New medications were added and when Grant took a turn for the worse he would take him off of one and add another. Trying to find the right medication combination is a big challenge.
Grant started dating Georgette, who is a beautiful woman inside and out, in 2005 right before his Grandmother died. They married on July 29th, 2006. Georgette has stuck by him through all of the good and bad times. There have been a lot of bad times.

When Grant and Georgette had been married about 3 years he became worse and worse, until we took him to Florida again where he was diagnosed with Lafora Disease. Grant is now 30 years old and we have been dealing with this horrible disease for 12 years. His cognition has slowed down a lot and he does not understand that he cannot do what he used to do. He thinks he can still drive and dive. We have hard times explaining that to him.
My oldest daughter, Claire, started showing the same kind of symptoms and has been diagnosed with having the Lafora gene on one chromosome. Her cognition is slow like Grant’s and she is on three of the same medications. The good thing with her is that she doesn’t fall as much as Grant.

 It seems most of kids that have Lafora disease don’t live to 25 years of age. We are thankful that Grant has made it to 30 years old. We feel privileged, to have had him for so long. We are very thankful.

We understand that the doctors are close to a therapy for Lafora Disease so PLEASE DONATE TO CHELSEA’S HOPE SO A THERAPY FOR THIS DISEASE CAN BECOME AVAILABLE SOON.


Gareth and Clarabelle (Grant’s parents)