What Is Batten Disease?
The Disease
Batten Disease is an extremely rare genetic disorder. It is inherited so both parents are unaffected carriers (see diagram). Commonly referred to as Batten Disease, the Neuronal Ceroid Lipofuscinoses (NCLs) are a group of genetic metabolic life-limiting diseases which cause a progressive deterioration of the brain and nervous system.
Over 400 mutations in 13 different genes have been described that cause the various forms of Batten Disease. The type that Nicole and Jessica have is called CLN2 or ‘late infantile NCL’.
For more information on the other variants of Batten Disease, please visit the BDFA website.
There are lysosomes inside every cell. Lysosomes contain enzymes that break down and recycle material in the cell.
One of these enyzmes is called TTP1 and children with CLN2 either don’t have it or it does not work. When the enzyme isn’t working correctly, materials build up of lysosomes in cells and the build up of materials is associated with the damage of brain cells, and they stop functioning normally. This is when the symptoms begin…..
Children will develop normally until around the age of 3 years old, then symptoms begin to show. The disease takes away children’s abilities to walk, talk, feed, they lose their eyesight, it brings on epilepsy, and children are not expected to live past the age of 12 years old.
Symptoms
Children are born seemingly healthy and develop normally for the first few years of their lives, until around the age of 3 years old when symptoms begin to show.
One of the most common symptoms are seizures. Epilepsy in batten disease is classed as ‘complex epilepsy’ because there is an underlying neurological condition.
Seizures may be controlled through medication but it is unlikely, even with treatment, that they will become seizure-free. Development begins to slow down and regression of skills and abilities will become apparent, they will struggle to do simple things that they once could do with ease.
Speech will regress and they will become unsteady on their feet until they are unable to walk unaided. CLN2 Batten Disease results in vision loss over time and by the age of 6, most children will be completely dependent on their families and carers for all of their daily needs.
Without treatment, children with this variant of Batten Disease are not expected to survive into their teens.
Treatment for CLN2 Batten Disease
The drug ‘Brineura’ is changing the future for children with CLN2 Batten Disease.
Biomarin is an American pharmaceutical company who specialise in rare disease. They developed the first approved treatment for any form of Batten Disease, a drug called ‘Cerliponase Alfa’, commonly referred to as ‘Brineura’ which is a synthetic version of the TTP1 enzyme that the children are missing.
Brineura is delivered directly into the ventricles of the brain via a port every two weeks.
For more information on enzyme replacement therapy visit the Biomarin website here.
For more information on the latest Clinical Trials for all types of Batten Disease, please visit their website here.
Please always remember to contact the BDFA for information and support.
Enzyme Replacement Therapy is not a cure, but it has been proven to slow down the progression of the disease and it is hoped, if given early enough, that it may stop the symptoms from starting in the first instance, although there are a lot of ‘unknowns’ as it is pioneering therapy. There are advances in medicines being made every day and we know the cure is coming
In January 2017, Nicole began pioneering enzyme placement therapy at Great Ormond Street Hospital and we travel down to London every fortnight for this. Nicole had brain surgery to insert a device which sits in her skull and it is through this device that enzymes are delivered directly into her brain. The treatment gives Nicole the enzymes that her body is not producing itself. This is not a cure, but it has been proven to slow down the progression of the disease.
This treatment will not have any impact on Nicole’s vision, so we need to prepare ourselves for Nicole eventually losing her eyesight. This is one of the hardest things we have to cope with, we cannot imagine that day. Research is currently underway to find a potential cure for the decline in eyesight, however it looks unlikely that it will be in time for Nicole….but we remain hopeful as Nicole is always defying the odds and is one in a million, and that’s all it takes x
We want to do everything we can to help the BDFA by raising awareness of this devastating condition and raise money to fund medical research into treatments and ultimately to find the cure. We want to ensure that all children with this condition have access to treatment so we will be doing all we can alongside the BDFA to make sure this happens.
In May 2017, Jessica enrolled onto a Sibling Trial in Hamburg Germany to treat younger siblings of affected children, and became the youngest child in the world to have this treatment. Jessica underwent brain surgery to insert the device which is used to deliver the enzyme treatment and it had never been done on a child this young, so it was a very tense time but we were so relieved that it was a success. The doctors, surgeons, researchers, BDFA, BioMarin, (the pharmaceutical company who supply this treatment) were all delighted when the surgery was a success as it will now pave the way for this type of surgery in children so young because Jessica proved it can be done safely and successfully. Jessica began treatment in Great Ormond Street alongside her sister in March 2018 when the sibling trial was launched in this country.
It is a significant step forward in the Batten Disease Community and we are so proud and incredibly grateful that Jessica has this opportunity to receive this treatment at only 1 year old. The eyes of the medical world will be on Jessica to see if the treatment is given to a child this young, before any symptoms have started, could it prevent them from ever starting in the first place? We are hoping and praying this will be the case and we are full of positivity for the future.
To find out more about Batten Disease and the work that goes to support families living with this condition, please visit www.bdfa-uk.org.uk.