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

Adela Richer

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18, Texas

Eighteen years ago when our daughter came into this world she brought with her a joyful universe. Since that blessed day we have been gravitating in this universe enjoying every minute in it, amazed at this miracle that was given to us, this wonder that was changing every day, growing, adding layers of knowledge, wit, and beauty in every aspect. We used to say to each other that Adela was the only thing that we did to perfection. Of course all parents believe the same, but indeed she was perfect to us!

She was a model student in school, she enjoyed reading, learning, being curious about all the things around her. By the third grade she was accepted in the Talented And Gifted program for all study subjects. In the fifth grade she started playing violin. Outside school she went to gymnastics, ice skating, and tennis classes, and enjoyed water skiing, bicycling, or roller skating in the weekends. She was a daring spirit always willing to try new things.

Then seven years ago when her fist seizures happened some stars in our universe became cold. As painful as it was we didn’t despair right away as we read that for most people the seizures can be controlled and they live an almost normal life despite certain limitations. But Adela is not like most of the people with epilepsy. On the contrary, she is among the very few people in this world who was destined to an extraordinary cruel disease named Lafora.

She was diagnosed with Lafora in June 2007, after six years of seizures and a long and painful trip through a large panel of antiepileptic drugs in an attempt to control what the doctors called “idiopathic epilepsy”. During all this time we saw her wit, happiness, and exuberance slowly fading away. Initially we blamed her physical and cognitive regress on the side effects of the antiepileptic drugs. As the years passed her sharp mind that we were so proud of entered a dark zone. Things that were so easily done before became painfully hard. She had to stop playing the violin, and all the other activities she enjoyed. Friends disappeared. While kids of her age open the door and step into the real world, Adela’s world closes around her confining her to her room. While other kids become independent Adela is relying more and more on other people.

She recently turned 18 and she is looking forward to starting her adult life unaware of how sick she is. We do not have the courage or the heart to tell her the real diagnosis and the dismal prospects of the disease. She is a high school senior, she goes to school for 4 hours each day with all the accommodation offered by special ed program. Some days though, she is too tired to attend classes and she spends her time reading or watching TV. She can still talk coherently (sometimes with breaks between words), she understands her reading, but the smallest amount of homework can tire her to exhaustion and gives her lots of myoclonic seizures that she calls socks. She stumbles a lot, has “drop attacks” and losses muscular tonus in her arms making eating, drinking and writing very frustrating.

For the rest, each of the stories written here is our story and there are no words to convey the cruelty of this situation. What we held dearest to our life, the light and soul of our existence is melting away each day.

– Provided by Gabriela & Edmond Richer

Parent Diaries

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Abdul Ali

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24, United Kingdom

Abdul was born in Bangladesh in 1984 and we came to the UK in 1988. Everything was going fine. We have lived and continue to live in the East End of London. He went to the same secondary school where my youngest brother now goes as well as the local six form college (then it did not have a separate six form as all students mixed).

He had a couple of unexplained seizures in about 2002 or so and eventually he became an inpatient at the Royal London Hospital. He also lost his place at the college as the staff felt he could not come back that year as he had missed too much work but he was guaranteed a place the next year which he could not take. I would just like to point that we are not in anyway critical of the college as they have been wonderful and understanding.

The doctors at the hospital put him on anti epileptic medication. The seizures got worse and worse and we realised that he was developing other problems like he could not hold a pen properly.

Eventually after a number of tests and a minor operation they diagnosed Lafora. By that time eventually the things were getting so serious that he was on life support and they gave him six months before death.

We asked that he come home to spend his final days here.. Those days have become years. He has regained some of his abilities for example sometimes he can stand up without falling or that he can talk about things sometime as well as do things like watch TV. He is a fussy eater.

He even at his best moments is like a child who cannot do anything on his own but there are times when he is more lucid then other times.

We have had wonderful support from the hospital but it takes time for the local authority or our landlord take make adjustments to the house and they are only making them now.

It takes the life out of people who suffer from it at the peak of their life.

– Submitted by Ali’s Brother

Taylor Nicole Mankins

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Fort Worth, Texas
(Sep. 13, 1990 – Jan. 10, 2014)

Taylor Nicole Mankins, 23, passed away Friday, Jan. 10, 2014, in Fort Worth. Taylor was born Sept. 13, 1990, in Cleburne to Tim and Joy Beth Mankins. She was a graduate of Joshua High School in 2009. Taylor loved to dance, sing and especially spending time with her brother and sister. Taylor had an amazing and strong faith in the Lord. Survivors: Parents, Tim and Joy Beth Mankins of Joshua; sister, Shelby Mankins of Joshua; brother, Jayson Mankins of Joshua; grandparents, Marlene Shelley of Burleson, Carolyn Hurst of Burleson, Fred Mankins of Alvarado; aunts and uncles, Jon and Darla Shelley, Mike and Tina Moore, Roy Hurst Jr., Chandra Gable, Pam Gable, Lance and Darla Gable, Ellen Mundheim; numerous cousins, extended family and friends; her special loving pets, Zoe and Ellie.
Published in Star-Telegram on Jan. 12, 2014

Taylor was born perfectly normal and healthy in 1990. As she grew, so did our hopes and dreams for her. She excelled in nearly everything she put her mind to. She was a high performance child, always striving to perfect whatever it was she was doing. She has always loved to sing and dance and been a “social butterfly”, not knowing a stranger. She, from her earliest years has had an unshakable faith in the Lord Jesus Christ and has never been ashamed to tell anyone about Him. She has always been well-liked by most of the people who’s path she’s crossed and time and time again we’ve been complimented at what a sweet spirit she has. She’s a loving, huggy, hands on girl.

Late in her 4th grade year, I went to pick her up after school and as she walked toward the car, I noticed she had huge patches of hair missing from her head. For an entire year, she unknowingly and uncontrollably pulled her hair out while watching T.V. or sitting idly. We would find mounds of hair on the floor where she’d been. I had noticed that, to get her attention I would have to get between her and the T.V. but I thought she was tuning me out. She was embarrassed and ashamed of her appearance but was unable to stop. She always wanted to stand out and be noticed, but not in this instance.

In April of 2001, the day before Easter, Taylor was at the local Putt- Putt for a friend’s birthday party. She was playing a 3-D video game and went into a convulsive seizure. It was terrifying. I recognized what was happening but had no idea why. She had never had seizures before and, as far as I knew, had no reason to. I have no idea how long it lasted but it seemed like forever. I carried her to the bathroom and remember that I kept telling her to look at me and she would say “I am” but her eyes appeared to be pulling to the left. I helped her outside and we went to the emergency room. The ER doctors ran a CT scan and several other tests confirming that she had had a seizure and they sent us home with medication to help until we could see her doctor.

We were referred to a pediatric neurologist who gave her the diagnosis of Epilepsy and placed her on Zarontin. For an entire 9 months, she was seizure-free and the hair pulling stopped. She was doing great in the 5th grade, making good grades and winning contests, making friends and all the basics of a girl her age. She continued to sing and dance and was looking forward to playing the flute in band for her 6th grade year. We had to make several changes to her regular routine like…“NO bicycles, NO tree climbing, NO baths, NO contact sports and so on.”

I’m sure many reading this can relate. All in all though, her life maintained a good sense of normalcy until Christmas break of her 6th grade year. She was 11 years old and began complaining of jerking in her arm. I immediately suspected it was neurological and contacted her doctor. Here is where the challenge got challenging. Now the process of prescription elimination began. Zonegran was the first to be added to the mix and that is when we began to lose her. Her grades sank. She slept all the time and every aspect of normalcy in her little life began to slip. We tried her on multiple medications all to nearly no avail other than to further sedate her.

The seizures continued as did the jerking with very little relief until she was finally placed on Keppra which did help some and praise God, had no negative effect on her. That was a first. Every time her prescriptions changed, we lost a little more of her in an effort to stop the seizures. At times she was unable to get out of bed unassisted. We had to revert back to dressing her and tying her shoes and even helping her bathe. After months of having little seizure control, the doctor ordered a list of tests to rule out any rare disorders. We were assured that the odds of her having any of them were one in a million. Some tests took weeks and others months but one by one the results were called out to us “NEGATIVE, NEGATIVE, NEGATIVE.”

Then came the call that the last results were in and “The Doctor needs to see you.” I said why does he need to see me, you always tell me over the phone. She said we need to make an appointment and I said I know what this means. Just tell me, please don’t make me wait. I remember collapsing in the floor and screaming God, God…though you slay me, I will trust you. By the time we saw the doctor, I was already braced for what I would hear. The diagnosis of Lafora was confirmed through DNA testing and there was so little information that we were given pages copied straight out of medical dictionaries on similar disorders but very little on Lafora itself. We were given a morbid list of what to expect in the future and at that point, made the decision to answer any questions Taylor had but not to rob her of her hope. She knows that the doctors say she should get worse and worse and ultimately die from this but she also knows that our hope is in God and He has the final say. His word says that she is healed and that His plans for her are to prosper her and not to harm her. His plans for her are for hope and a future. His plan is that she live and not die to declare His works. These are the truths we cling to. This journey has been and continues to be the ultimate test of faith in our lives.

We have watched our once healthy, active, over-achiever be ravaged by a horrible disease. She has suffered multiple falls resulting in broken teeth and blacked eyes, busted lips and knots on her head. She has endured postictal paralysis and amnesia. She has been rushed by ambulance when the oxygen her convulsing body was taking in wasn’t enough to sustain her and most painful…she has lost the company of the friends she held so dear that don’t know how to deal with the battle she’s fighting. We watch her struggle through even the most menial tasks like brushing her teeth or buttoning a blouse. She stops mid process and fights to remember what she’s doing or what to do next. It has been in the last year or so that we’ve noticed the biggest change. Her mind knows that she is 18 and she has all the drive of an independent 18 year old but her mind functions as a young child and her body will not cooperate. She wants to participate in sports but her legs move much faster than her brain is able to process. She falls frequently as she continues to fight for her ability to dance and when she wakes in the mornings, she can scarcely hold the cup to take her medication due to the jerks and tremors. The seizures have become more violent and frequent and on a daily basis, she converses with voices that no one else can hear. She is a dainty, but strong 110 pounds that refuses to let this thing beat her.

She graduated from public high school in May of 2009 and has opted to go back for an additional year to take refresher courses in English and Math and to work on job skills. When she is discouraged, I remind her that she has the hope of better things ahead of her. We have witnessed her mind slip in and out of reality on a daily basis and her body fails her regularly but I have never seen her faith so strong. Faith is after all, the substance of things hoped for and the evidence of things not seen. It is my strong belief that for every problem, God has provided a solution and for every disease, He has provided a cure. It is our job to seek out the matter. There is cause for hope in the treatment of this debilitating disease. It is my prayer that these doctors and scientists who work tirelessly to further this cause be blessed with wisdom and the finances to pursue the knowledge they gain.

God Bless,

Joy Beth Mankins- Mother of Taylor Mankins

Tatjana Gajic

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Bosnia
(Passed in October, 2014)

 

Despite all of her suffering, caused by the cruel Lafora disease, she has a contagious spirit and a shining smile like lightening, that brightens life around her. Her large dark glowing eyes, full of gratitude for everyone nearby, shine great love and tenderness.

 

 

Tatjana was a healthy, good, noble girl. She was an excellent student, and liked to read so much that a new book would make her happier than a new dress. As a little girl she wanted to take ballet lessons, so she did. And later she wanted to dance and was delighted with every performance. She played tennis and skied so well that she was even advised to participate in competitions. She wanted to become a pediatrician someday so she could help other children…

One day, during the second half of her first year in high school, I got a phone call from her school: “Please come, Tatjana is not feeling well.” Surprised, and for a moment lost, I asked myself if I had understood. We were afraid to get a call from Milana’s school because she already had some problems, Tatjana was a healthy child, what cruel destiny was it? Unfortunately, we found out that she also had some kind of clonic seizures. Diagnostic procedures followed – MR and CT of the brain were all right, EEG showed a certain slow motion and changes, which should point to therapy.

Tatjana went back to school activities, but soon a second seizure followed. We left with both girls for a consulting check up to the Neurological Institute for children and youth in Belgrade. Professor Jovic and his associates got suspicious and ordered some gene tests, the diagnosis: MORBUS LAFORA (NHLRC1, EPM2B). DESPAIR, SADNESS, DISBELIEF. There are no neurological diseases in both of our families, but here we are dealing with the cruelest genetic lottery sequence of gene mutations from both parents. Only later, on the Internet we found a commentary of a parent: “OUR CHILDREN ARE SENTENCED TO DEATH, WITHOUT OUR GUILT.”

During these days in Belgrade we were hiding the cruel truth from the two of them, but they felt that there was something awful going on. I remember when Taca, during a walk, suddenly sat on the walkway and started to cry. She showed me a message she received from her schoolmate, a message of shining support and kindness. Her schoolmate wished that Tatjana would come back to school as soon as possible. I will never forget what her friends, during their first visit after we came back to Banjaluka, said: “Mrs. Snjezo, how could this happen to Tatjana, she is the best of all of us.” Only a child can say something like that and be so sincere, warm and noble. Even today, this kindness means a lot to Taca.

Unfortunately, Tatjana was headlong “decaying”, she didn’t reconcile with her destiny, refused food and, despite all efforts, she rapidly lost weight, and her immune system started to fail. During that winter she suddenly lost her favorite aunt who had been a great support to her. As a doctor, I am convinced that this additional stress gave her pneumonia a few days later. Three long months of agony started, a fight for her life, atelectazis, tracheotomy, secondary intra hospital infections… Taca, anyway, managed to win this battle. After leaving hospital, she never got back on her feet again, but has strength in every way, and hope for life returned. Right now unsolvable problems are often and painful colic because of frequent urination of kidney sand and stones.

There are days without pain, days when she’s happy for every move she makes while exercising. But, there are also days when she strongly wants to say something, participate in conversation, but saying even one word is hard, or even impossible. Those are perhaps the hardest moments and those tears hurt the most. Often she complains to her sister while she’s sitting next to her bed trying to read to her or to recount some of their old stories. Milana is often kicking us out of the room and whispering something on Tatjana’s ear. Sometimes, this whisper is loud enough for us to hear: “Come on, sis, give it a try, get out of this bed, do you know how much I miss you?” They teach us what patience and unconditional love are. Many friends have disappeared, phones got quiet, most of the time they are focused on each other. That’s not only our story; unfortunately, this is the destiny of almost every story of this kind. There are many reasons: discomfort, disbelief and fear of disturbance… The truth is that it’s very difficult to be friends with someone who has lost a big part of himself or herself. But, believe us, a great part is still there and it is going to remain there for a long time. You should not judge a book by its covers, you have to gain strength and give it a try… They need friends, relatives, neighbors to fight in this hard battle, but we are not saying this as a criticism, but as an encouragement…

Hope and a will to live have returned to Taca and for sure she has a lot of resources not easy to be destroyed. Every day we are feeding her hope, which she surely needs as much as food itself. This hope is being transferred to her through stories of how Professor Jovic, Professor Minassian, Professor Escueta… are going to make “vitamins” which will strengthen her muscles so she will be able to swim again, all the way to the buoys. These great enthusiasts are working hard and they are convinced to be on the best way to reach a solution.

WITH ANY KIND OF INVOLVEMENT IN OUR FIGHT, YOU ARE HELPING US TO BUY TIME – THE ONLY DISPUTE THING

– Provided by Tatjana Gajic’s Family

Our daughter Tatjana lost the battle for life, but she will defeat Lafora disease

Via Rare Disease Day

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