On Wednesday 20th February my sweet nephew Max was diagnosed with the CLN2 form of Batten Disease which is a rare genetic condition. Only 5-6 children are newly diagnosed each year. Currently, there are 36 patients in the UK including Max diagnosed with the CLN2 type. It is a neurodegenerative life limiting condition that is incurable and those with the disease die as children. Children enjoy a healthy start to life, reaching usual milestones but gradually the development slows and a number of symptoms are presented. Seizures, falls, loss of motor skills and speech loss compound the condition. Childhood dementia and blindness combine with these symptoms to make this a devastating disease. This means that families who looked forward to the usual upbringing of their child are now faced with the challenge of caring for their son or daughter whose deterioration means they become full time carers, watching their child die. Deterioration can be swift and the life expectancy is between 6-12 years old.
There is no cure for the disease at present. However, there is hope in the form of a treatment/enzyme replacement therapy called “Brineura/Cerliponase alfa”. A selected number of children in the UK have been receiving the drug as part of a clinical trial and it has shown to slow down the progression of the disease, in some children even stabilise it. Six children have access to the treatment through a compassionate use scheme. The treatment has shown to prolong life as well as improve the child’s quality of life. It is described as miraculous. Most children that have been on the drug can still walk, talk, eat, do normal activities - when in the usual progression they would now likely be wheelchair bound, struggle talking and fed by tube. The treatment is currently available in 20 other countries including Wales, but not England.
A couple of days after receiving the devastating news about Max’s diagnosis, NICE announced that they would not fund the treatment for it to be available via the NHS.
LIFE AFTER THE DIAGNOSIS
There are no words to express how devastated you feel when you hear the worst possible news regarding a loved one in your family. Even more so when it is an innocent and darling child whose life journey has only just begun and who you are so close to. It smashes your heart into a million pieces and your brain just cannot comprehend the meaning of the words you have been told. You wake up every day desperately hoping it was just a horrible dream and that it cannot possibly be true. It crushes your entire existence and nothing is ever the same from that moment onward. You feel hopeless and desperate to help knowing there is not much you can do. I have cried a lot and still do. I am angry and frustrated. I cannot even begin to imagine what my sister and brother in law have been going through since the diagnosis. It has had a catastrophic effect on them both and the whole family. They rely heavily on each other for support and comfort to appear strong in front of my two nephews who haven’t been faced with the truth yet whilst they carry on with their everyday lives and work as well as staying on top of Max’s appointments, tests, physio, extensive research and much, much more. To say that I greatly admire their strength and determination is an understatement.
WHO IS MAX
Max is one sweetest and handsome blondie boy who is loved and adored by so many. His best friend is his little brother Felix who looks out for him and plays with him. The two of them are as thick as thieves and their bond is unbreakable. Felix absolutely adores his big brother and looks up to him. It melts my heart to see how well he understands Max and knows what he needs or wants and knows how to make him laugh. Max is a big fan of Thomas the Tank Engine, PJ Masks (especially the Gekko character), Paw Patrol and Octonauts. Despite his deteriorated physical strength, he still enjoys cycling, horse riding, spending time outside with Felix and helping Daddy feed the chickens. He enjoys visiting his Bristol cousins because he also knows that the TV will be on for him and he can watch his favourite cartoons one episode after another. His cousins love him and Felix to bits and always look forward to seeing them. Together they are the fabulous five, a force to be reckoned with!
I still struggle to comprehend that my darling nephew Max has been dealt the worst possible hand in the game of life. It breaks my heart thinking about what the future may bring. This is why it is vitally important that he get access to the enzyme therapy treatment to stabilise his condition and slow down the process of this disastrous disease.
I AM DESPETATE TO MAKE A DIFFERENCE.
My sister Ivana is my best friend. I love her children like I love my own. I would do anything for her and her family and it cuts me up inside and saddens me deeply that there is nothing in my power to help Max. Perhaps except for this fundraising page. This is the only way I could think of making a difference. Ivanka and Simon are truly incredible. Such generous and amazing family orientated people who always see the best in everyone and give so much of themselves to their boys and others. Si has been working extremely hard to provide for my sister and the boys whilst she has been doing a stellar job of looking after Max and four-year-old Felix on a full-time basis. Since Max started school, my sister unknowingly and without any initial planning took on a new “job” of a researcher and eventually a primary carer using up the last of her energy to get to the bottom of Max’s health issues. It was a guessing game to begin with. A lot of time observing his behaviour, lengthy discussions with Si and searching online, endless reading and deciphering numerous medical terms and booking appointments with various doctors and practitioners, a lot of travelling, waiting time and disappointing outcomes, tests, blood tests and more privately funded tests including genetics, more time consuming extensive research, medical consultations in the UK as well as abroad and after a couple of years of “putting a label on it” they finally got to the devastating diagnosis of Batten disease. Followed by a hard-accepting fact that the treatment which could massively improve the quality of Max’s life is not going to be available.
I am aware we would not be able to raise enough money to fund the treatment itself, however I would love for any money raised through this fundraising page to improve the quality of darling Max’s precious life. I have no idea or concrete expectations of how much money can be raised. Ivanka and Si have a plethora of wonderful friends, family, relatives and acquaintances who, like me, are desperate and ready to help and this could be one way of doing it.
Any money money raised will help towards the cost of expensive and frequent train travel to London to Great Ormond Street Hospital for Children, where Max is having further tests and examinations. It will help towards obtaining special mobility equipment and household aids. It will help cover the cost of time taken off work to take Max to numerous appointments and cover the cost of privately funded tests and regular speech therapy. It will help towards the cost of activities to keep Max’s physical strength up such as horse riding, cycling and swimming. It will allow Max to carry on enjoying experiences and trips to places like We the Curious the Zoo, The Wild Place Project, the Aquarium and visits to the ice rink or soft play centres and much, much more.
Please give as little and as much as you can, any amount will make a huge difference. If you are not in a position to help financially, please sign the petition below and spread the word to help Max get the treatment he needs to improve the quality of his life. All of your help is immensely appreciated and hugely relied on.
Help Fund the ONLY Treatment for Children with FATAL Batten Disease
There is another petition and crowd-funding site run by the Batten Disease Family Association which relates to the decision by NICE and NHS England not to fund the enzyme replacement therapy drug “Cerliponase alfa” that has been so effective during the 5-year trial that has just finished. The charity is determined to challenge NICE’s decision because they cannot comprehend how a drug, agreed to be effective, should be denied to children in England when it is available in over 20 countries, including Wales and despite BioMarin (the USA drug company) offering the NHS the lowest price in Europe (and they are prepared to negotiate further).
Your support will make a difference to the children living with CLN2 who need this treatment, improving their quality of life as well as giving their families more precious time together. Four children in England, including Max, cannot currently get access to the drug.
All of your help is immensely appreciated.
The crowdfunding is here: Charity determined to challenge the decision
If anyone is feeling proactive, please feel free to write to your local MP regarding this matter. The more feedback they get, the better. And also do share.
A massive thank you to you all.