Hope
Hope
A short while after Nicole’s diagnosis, we were given a life line. We were put in touch with the Batten Disease Family Association (BDFA) who advised us that there were places on a compassionate use programme at Great Ormond Street Hospital in London, where children were given enzyme replacement therapy. It is a pioneering method where a drug was given directly into the brain by a device which sits inside the skull. The treatment was hope when we once had none.
In January 2017, Nicole began enzyme replacement therapy at GOSH. The treatment slows down the progression of the disease, but it is not a cure. A cure is out there, we just need to find it! There are advances and developments being made every day in Batten Disease and we are full of hope that a cure is round the corner.
From January 2017 we travelled to Great Ormond Street Hospital in London every fortnight until in September 2021, the girls treatment was moved up to The Great North Children’s Hospital in our home city of Newcastle which was life changing! The girls will continue to have fortnightly brain infusions for the rest of their lives, until a ‘one time cure’ is found. Batten Disease has taken a lot of things from Nicole but she has never ever complained or grumbled. She is a true warrior, like her little sister and like all of the brave children around the world who are living with this disease. Nicole can no longer walk by herself, she has seizures, she has never spoken and has a gastrostomy for her medicines, feeding and hydration. She is fully dependant on us for every element of her daily life but she remains the little ray of light she has always been to us. She shows us the true meaning of resilience. She is an inspiration.
Nicole attends Hadrian school which is the most perfect setting for her to thrive. Nicole is like a different child compared to how she was before the treatment started, she is so much calmer and happy. Nicole won the ‘half term achiever’ award for her excellent communication and engagment in her lessons! We could burst with pride at what Nicole is achieving.
Our next focus was to get Jessica treated but, as she was diagnosed when she was just 15 months old, she was too young for any programme. There were Sibling Programmes in Ohio in USA and Hamburg in Germany and we are beyond thankful that the age limit was lowered to allow Jessica to enrol.
In May 2017 Jessica became the youngest child in the world to ever have this treatment, beginning when she was just 22 months old. She paved the way for younger children to be treated and now children even younger than Jessica are able to access treatment which is wonderful.
We were delighted that in March 2018, Jessica transferred to Great Ormond Street in London when the UK Sibling Trial was opened to allow Jessica to join her big sister Nicole so that they could be treated together.
Our hope was always for the girls to be treated in our local hospital in Newcastle and we are proud to say that in September 2021, our goal was realised when Nicole and Jessica had their first infusions in The Great North Children’s Hospital. The hospital became the first non-Lysosomal Storage Disorder outside of London to provide this pioneering treatment and we will be forever grateful to everyone at the hospital who made it possible.
We cannot describe how much this has changed and improved our lives. From a 3 hour train journey, a night in London, a full day in hospital for infusions, then another 3 hour train journey home……..to a 15-20min drive from our front door to the hospital ward!
Without treatment, you would expect to see symptoms starting around the age of 3 years old but our hope is that Jessica may never develop the symptoms because she started treatment so young before any symptoms have started. Jessica attends mainstream school, she can write her name, count and is coming on fantastically with her phonics, she is riding a bike, climbing rope bridges, scootering up to school, so you can see she an active little girl! This would simply not be possible without treatment.
Jessica has seizures which are controlled by medication. The fact that Jessica has seizures is no reflection on the effectiveness of Brinerua because Brineura was never intended to have an impact on seizures.
It’s two prime focus areas were cognitive ability and mobility, both of which Jessica is proving perfect at!
Throughout all of this, our amazing son Louis has been a complete superstar, looking after his sisters and helping us out too. We are so proud of our little man and how he has coped and adjusted to changes we have all experienced due to Batten Disease. He is an incredible, caring and thoughtful boy and we love him so much. Siblings are superheroes that’s for sure!
We have always included Louis in the different stages in this journey. We have taken Louis with us to UKE, the hospital in Hamburg where Jessica was treated, as well as bringing him with us to Great Ormond Street in London, before we moved to Newcastle. Louis has watched the infusions taking place and he always asked lots of questions which the nurses are more than happy to answer. We are so proud of our boy.
In June 2017, Brinuera, the drug that is used in the treatment, was licensed in Europe and America which was a great step forward. From that moment, the enzyme replacement therapy was available to any newly diagnosed child with CLN2 Batten Disease in America…..but the UK did not follow the majority of Europe and so our fight began.
In September 2019, after an exhausting two year campaign by families and the patient organisation (BDFA), Brineura was approved for use on the NHS through a Managed Access Agreement set out by the NICE Committee (National Institute for Health Care Excellence) which ends in November 2024. At that time the committee will review 10 years worth of data gathered from the beginning of the first clinical trial when Brinuera first began to the test results of the children receiving Brineura now. They will then make their final decision whether to make Brineura available to children who are diagnosed with CLN2 Batten Disease.
All children deserve a chance and we will never ever stop fighting for our daughters and for every child who needs this treatment and so we will do everything we can to help the BDFA make this happen so that any child diagnosed with CLN2 Batten Disease in this country will have access to this treatment in hospitals across the UK.
To keep up to date on our journey, we would love you follow our Facebook page ‘Nicole and Jessica’s Batten Journey‘, where we share regular updates. Thank you from the bottom of our hearts for taking the time to read and find out more about Batten Disease and our family. We are hugely grateful for the incredible and continuous support we are shown, it means more to us than you will ever know. Sending love from our family to yours.
The Future
Our hopes, dreams and vision for our family has changed. We know our lives will never be the same but we will not let this bring our family down. Our children – Nicole, Jessica and our beautiful son Louis – need their Mammy and Daddy.
We continue to live each day with happiness, love and positivity in our hearts. We focus on things within our control and one of these things is raising awareness of Batten Disease. It is a widely unheard of condition, yet it is the most brutal condition for anyone to have to endure, never mind a child.
Through ‘The Nicole and Jessica Rich Foundation’, we raise awareness of Batten Disease and fundraise for medical research as well as the care of Nicole and Jessica and making memories as a family while we can.
Once you choose hope, anything is possible…