Batten disease. let’s cure it!

battens ribbon

Imagine waking up one morning and finding your eyesight failing.

Imagine waking up and stumbling when you walk.

Imagine opening you mouth and not being able to talk.

Imagine not understanding, being incontinent, and being unable to eat.

Now take a look at that description and imagine it’s your child.

Batten disease (Neuronal Ceroid Lipofuscinoses) is an inherited disorder of the nervous system that usually manifests itself in childhood. Batten disease is named after the British paediatrician who first described it in 1903. It is one of a group of disorders called neuronal ceroid lipofuscinoses (or NCLs). Although Batten disease is the juvenile form of NCL, most doctors use the same term to describe all forms of NCL.

Early symptoms of Batten disease (or NCL) usually appear in childhood when parents or doctors may notice a child begin to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behaviour changes, delayed speech, slow learning, clumsiness or stumbling.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Children become totally disabled and eventually die.

Batten disease is not contagious nor, at this time, preventable. To date it has always been fatal.

                                   Special Child: Averee Pierce

04/13/2011

Averee was welcomed into the world on March 9th, 2004 weighing 8lbs 14ozs. The most precious little thing that you ever did see. Averee was a very active baby – she met all of her milestones at an early age apart from her speech, but we weren’t really too concerned about it.

Averee had her first seizure on June 21, 2007. She was at a grocery store enjoying her bag of chips and talking to everyone that she saw. It was then that Averee started stumbling; I picked her up and she was unresponsive. We took her to the hospital and it was there that they sent her in an ambulance to a bigger hospital two hours away to get checked by the pediatrician. He said Averee was fine and sent her home but she would have to go back a few days later to have an EEG.

Averee had her EEG done but we didn’t get the results until July 16, 2007. By this time Averee already had another staring spell so we knew there was something wrong. The doctor told us that she had an absence seizure. The pediatrician referred her to the Janeway Children’s Hospital. The neurologist gave Averee another EEG and it was then he diagnosed Averee with epilepsy.

The neurologist started Averee on Tegretol. After about two weeks of taking this medication, Averee began to drop to the floor. Then she developed a really bad rash and we found out she was allergic to the medication. While Averee’s condition was declining the nurse coordinator of the neurology department had mentioned Batten disease to us. We really didn’t know much about it so we researched it and decided to get her tested in March of 2008 by a skin biopsy under her arm.

On April 3, 2008 we got the most devastating news ever, something that no parent should ever have to hear – that Averee had Late Infantile Batten Disease. There is no preparation for news like this but we have learned to take it one day at a time. Since being diagnosed, Averee has lost her ability to walk, talk and is now being fed through a G-Tube. It’s heartbreaking to watch your child go through something like this.

Averee is still the happy go lucky little girl that we have always had and loved and we enjoy spending every moment with her.

KATIE.

katie

This is the story of Katie’s life before, since, and after the diagnosis of Batten’s disease.

Katie’s birth on February 15th, 2006 was not unlike most…except for the fact that she was born by a planned c-section. She was born at 8:30 am and from that very second we were in love with Katie Amber Claire. She was a healthy weight of 8 lbs, 12 ozs, had a great APGAR score and was every bit as perfect as her two sisters before her.

Katie developed normally, reaching all milestones at the time expected. We were delighted when she first starting reaching for toys, rolling-over, crawling, walking and talking. Just as most other parents, we saw no reason at this stage to worry about childhood illness and life seemed perfect.

“Perfect” began to crumble though, when on December 23rd of 2007, Katie had her first febrile seizure. Our eldest daughter quickly called 911 and Katie was whisked off to Emerg with us frantically worrying and wondering “will she be OK?”. We were relieved when the doctors said that it was due to a high fever and that we could take her home and keep an eye on her temperature for the next few days.

Months went by and all seemed well…we didn’t think twice about the doctors’ initial diagnosis in December, until June 23rd,when Katie had her second febrile seizure. Once again she was rushed to Emergency and once again we got the same diagnosis. Doctors assured us that Katie’s seizures were due to a high fever again. Although doubt about the diagnosis had set in somewhat, the reason the doctors gave for the seizures was easier to accept than something more serious so we brought her home and watched her fever and allowed ourselves to settle our minds.

It wasn’t until October 31st that we really started to question anything the doctors had said before regarding the cause of her seizures. Around 5 pm that day, Katie began staggering much like a drunken person. Her head was pulled to the left and was getting increasingly lethargic. Quickly, we got our neighbour, who is a nurse, to evaluate the situation. She immediately told us to call 911 and we found ourselves again riding in the ambulance with our baby girl, in the complete dark about what was causing this reaction in her tiny body. Doctors sent us home with anti-seizure medication (valproic acid) and told us not to worry. That suggestion was not  to be accepted from then on and we knew in our hearts that something more was going on with Katie.

In early November, around mid-night, we once again brought her to the Emerg department. They ran routine blood work and assured us everything was OK but soon after that, just before we left the hospital, she had another seizure. The onset of this one was witnessed by the doctors and they decided then to refer her to a neurologist. One year later that referral finally brought us to a doctor at McMaster University Hospital in Hamilton, ON. They had suggested an MRI, which unfortunately could take up to two years to receive. We were “lucky” enough that her MRI took place a year earlier that expected. The doctor prescribed a number of medications to control the Grand Mal seizures, which seemed to work for a while. As a family we could finally take a deep breath and relax somewhat, knowing her seizures had abated, that is  until February 28th, just after her third birthday, when she had 7 grand mal seizures in one day. Understandably we became frantic again, especially after believing for such a while that her seizures had finally became under control. Once again the doctors played around with her medication “cocktail” to try to regain control of the Grand mals. Although control of these seizures was not to be at that time, it did seem the frequency of them had lessened.

In July, Katie started having myoclonic seizures, up to 2 to 5 per hour. Although these seizures do not result in unconsciousness, she was experiencing repetitive and frequent jerking motions of her muscles. These muscle jerks gravely affected her ability to perform usually simple tasks such as playing with toys, using utensils, and walking. At this point, muscle control was unpredictable and Katie had developed frustration with her inability to do something as simple as holding a spoon. These jerks often resulted in Katie’s falling down and damaging her teeth and sometimes causing wounds on her head and face. These jerks were so abrupt that even if we were holding her hand to assist with her mobility she would sometimes fall and become injured. Our reaction time could not compete with the speed of these jerks and we often felt that our intervention and proactive assistance could not always help with the prevention of her falls and subsequent injuries. This made us feel inadequate at times and totally lacking control in these situations.

After becoming frustrated with the pace of the doctor’s work to determine Katie’s health issue, we started to explore options of our own. We pored over medical journals and parents personal experiences and researched diseases whose symptoms mimicked Katie’s. What seemed to fit was a disease called “Angelman’s Syndrome”. Katie’s symptoms at that point seemed to fit our personal “diagnosis” and although Angelman’s symptoms usually start at 6 to 12 months of age, the puzzle pieces seem to fall into place when compared to Katie’s symptoms. We quickly requested a test be performed on Katie to determine if she indeed had Angelman’s Syndrome and the results were negative. That negative diagnosis gave us mixed feelings. On one hand we were relieved that it turned out that she didn’t have this severe disabling disease, but on the other we were still without an answer to our daughter’s heath issues.

At this point, Katie had become wheelchair bound, her speech was affected and her myoclonic jerks were still tormenting her day-to-day life. After reaching a point where we could take this no more, I decided I would call Dr. Ronen, a pediatric neurologist, at McMaster Hospital myself. I told his nurse that I needed Katie to see another doctor to hopefully get a new point of view on this situation. The next day his nurse called us and said that Dr. Ronen would like to see Katie and have her come to the hospital for a week of tests and observation. We finally felt we were going to get to the bottom of Katie’s health problems and waiting for months to get these tests done seemed unbearable to us, as we had been going though this torture for 2 years now. I asked him if we could arrange the tests now and he gracefully agreed. A week later, Katie was admitted to McMaster for a week of tests that included an MRI, a spinal tap, muscle biopsy, and sweat gland skin cell microscopy. Results and treatment was needed as speedily as possible as Katie was having 200+ myoclonic seizures per day.

On November 9th of 2010 we were asked to come to Dr. Ronen’s office to discuss Katie’s test results. The very moment Dr. Ronen confirmed her diagnosis of Batten’s disease and explained the prognosis our hearts were broken. We had learned that our baby daughter had a genetic disease that currently is 100% fatal. That disease is called Batten disease. It is genetic and can be passed down through family members. This disease does not manifest itself unless a carrier has a child with another carrier. There are certain places in the world where Batten disease is much more prominent, one of these places being Newfoundland, Canada. Because my husband and I are both from Newfoundland originally, we had a  much greater chance of having a child with Battens than most places in the world. Battens is very rare, with only a few hundred cases in the world at a given time. Because of this rarity, funding for treatments and public exposure of this disease has been miniscule when compared to other genetic diseases such as Cystic Fibrosis..

At this point Katie has limited mobility, though her muscle strength has not seemed to degrade much. After being put on Clonazepam for her myoclonic jerks she has been seizure free for days now and can walk with some assistance. She seems much more content as these jerks were quite frustrating for her. Her speech has been taken by the disease and her vocabulary has dissolved, which also makes Katie’s struggle challenging. Though she has these limitations we can see her strength and are amazed by it everyday. Please keep checking in for more updates on Katie’s health and accomplishments!

Not much can bring me to tears, but his does. Battens disease is cruel, relentless and it robs children of their childhood and parents of their children.  Unlike many disease battens disease doesn’t attract the publicity it deserves. Why? it doesn’t sell newspapers, it doesn’t increase viewer ratings, it doesn’t shock, because it happens gradually.

Take a few minutes to look at the you tube video, find out what disease is affecting 2-4 per 100 00 children. Take a few moments to consider the torture parents endure watching their children fade away and consider making a donation  to find a cure.

To donate:  https://www.justgiving.com/battendisease

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About Daddys with Angels.

We began as a group for grieving fathers and men in families, but other family members asked to join us. We now also have a group for Families with Angels dads and other male family members and siblings under 18. We have experienced and live with the harsh pain of loss and we hope we can bring other comfort with what we do, To find us please search for us on face book or www.daddyswithangels.org/. Hugs to you all and floaty kisses to all your angels. We retain the name Daddys With Angels.
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