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’. 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 the age of 3, then symptoms begin to show. The disease takes away children’s abilities to walk, talk , feed, they lose their eyesight, it bring on epilepsy, and children are not expected to live past the age of 12 years old.

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 the age of 3, then symptoms begin to show. The disease takes away children’s abilities to walk, talk , feed, they lose their eyesight, it bring on epilepsy, and children are not expected to live past the age of 12 years old.

Symptoms

Children are healthy and develop normally for the first few years of their lives then their development begins to slow and begin to regress and their speech will decline. Children start to become unsteady of their feet, eventually resulting in them being unable to walk. Epilepsy is a huge part of the condition. Seizures may be controlled through medication but will always recur. Vision is gradually lost. By the age of 6, most children will be completely dependent on their families and carers for all of their daily needs. Children with this condition are not expected to survive into their teens.

Treatment

There is currently no cure for this condition.
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.

Laura is the amazing clinical nurse at Great Ormond Street Hospital who looks after Nicole during her treatment along with the rest of the fantastic team at GOSH and she is a specialist in Batten Disease.
“Hello, my name is Laura and I’ve been in the role of Batten Disease Clinical Nurse specialist since October 2016.  I’m based at Great Ormond Street Hospital but the role is funded by BDFA to support families like the Rich family who are affected by Batten Disease throughout the UK.  I’m astounded every day by the resilience of the children and the families I work with and am privileged to play a small part in their journey.”

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Love from Gail, Matthew, Louis, Nicole and Jessica xxx

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