Flory's Story

Our beautiful 3-year-old daughter, Florence, has recently been diagnosed with Late-Infantile CLN2 disease also known as Batten Disease. This is a very rare genetic disease which is currently incurable, and we realize that we will very likely need more resources than we currently have to go through this heart-breaking journey with her.
Affected children like Florence will live a relatively normal life until around the age of 2 or 3 where symptoms will start to show, such as seizures and difficulty coordinating movements. As Florence gets older she will lose the ability to see, speak, eat, walk, think etc. and eventually will end up with vision loss, in a wheelchair and on a feeding tube. She will receive an ongoing enzyme infusion treatment every 2 weeks that will delay her regression in motor skills but it will not help her sight or cure this disease. Florence is not expected to live into her teenage years. As any parent would be, we are devastated and desperate to do anything we can to help her.
We noticed that Florence wasn't developing her speech and skills at the same rate as other children and she was soon diagnosed with Global Development Delay at 2 years old. Doctors were so quick to throw the 'Autism' label at her but we knew that it was more than that. We continued to push the doctors, broke down in hospitals, and screamed at pediatricians.
In August 2021, Florence began having myoclonic seizures in her legs, where she would drop to the floor and spasm (our 3rd pediatrician claimed it to be behavioral) but this was the last straw for us. After further appointments and genetic testing with our 4th pediatrician, we received the devastating results on 16th November 2021 that she had been diagnosed with CLN2. You may read more about this life changing disease below.
We had our beautiful daughter whilst living in Barcelona and she is a very funny little character currently full of life. It is heartbreaking to know that she will one day be unable to run around her local park or watch her favorite cartoons. She is Peppa Pig's No.1 fan. 

Florence currently receives an Enzyme therapy treatment every 2 weeks at Great Ormond Street Hospital though this is up for review in 2024 and there is no guarantee that this will be continued. We may be in a position where we need to fund a campaign in order to maintain existing treatments for children suffering with CLN2 Batten Disease. 
All proceeds will go towards provision of treatment, research, equipment and services for Florence and children in her position. We will aim to support any project/charity that benefits children and young people with CLN2 such as; BDFA (Batten Disease Family Association), Great Ormond Street Hospital (GOSH) plus local services that provide exceptional support for Florence.
Thank you for reading this message and for any assistance and support you are able to offer. We will continue to share with the world Florence’s journey on Facebook  and Instagram .
Joe, Pheobe & Florence x
CLN2 Batten Disease
The gene called CLN2 lies on chromosome 11. CLN2 disease is inherited as an autosomal recessive disorder, which means that both chromosomes carry mutations in the CLN2 gene, and both parents are unaffected carriers. The gene was discovered in 1998. CLN2 normally directs production of a lysosomal enzyme called tripeptidyl peptidase1 or TPP1. A deficiency of TPP1 results in abnormal storage of proteins and lipids in neurons and other cells and impaired cellular function. The cells cannot function as they should and symptoms develop.
How common is it? 5-6 children are diagnosed with late-infantile Batten disease each year in the UK. We estimate there are between 30 and 50 affected children in the UK. Children have been diagnosed in many countries and from a variety of ethnic backgrounds.
How does the disease progress? Children are healthy and develop normally for the first few years of life. Towards the end of the second year, developmental progress may start to slow down. Some children are slow to talk. The first definite sign of the disease is usually epilepsy. Seizures may be drops, vacant spells or motor seizures with violent jerking of the limbs and loss of consciousness. Seizures may be controlled by medicines for several months but always recur, becoming difficult to control. Children tend to become unsteady on their feet with frequent falls and gradually skills such as walking, playing and speech are lost. Children become less able and gradually skills such as walking, playing and speech are lost. Children become less able, and increasingly dependent. By 4-5 years the children usually have myoclonic jerks of their limbs and head nods. They may have difficulties sleeping and become distressed around this time, often for no obvious reason. Vision is gradually lost. By the age of 6 years, most will be completely dependent on families and carers for all of their daily needs. They may need a feeding tube and their arms and legs may become stiff. Some children get frequent chest infections. Death usually occurs between the ages of 6 and 12 years (but occasionally later). Dr Ruth Williams (NCL2012 Abstract Book, Clinical Summaries 2012)
Brineura Enzyme Therapy
The drug, which is called cerliponase alfa or Brineura, has been approved by the NHS following successful clinical trials at Great Ormond Street Hospital in collaboration with other centres around the world. The treatment available is on a managed access agreement until 2024 and was initially rejected by the medical health board due to costs associated. There is no guarantee that this will be approved for financial support in the UK from 2024 onwards, though ongoing discussions have been positive.
The therapy, which is infused directly into the brain via an implanted device, has been shown to restore enzyme activity and slows the onset of disability. In the trial, patients given cerliponase alfa showed 80% less decline in patients’ motor and language skills, when compared to the natural progression of the disease. The new therapy also reduced loss of brain tissue. This treatment is not able to help delay the regression of sight loss.
There is another enzyme treatment for sight in clinical studies but this is not currently available via our national health service. Annual costs for Brineura Enzyme Treatment is over £500,000 and could help Florence live her final years without darkness.
Gene Therapy
Gene Therapy costs can be anywhere between £500,000 up to £1 Million and would be a one off treatment in comparison to regular hospital visits for treatments such as Brin
Gene therapy is currently being studied mostly by American based Pharmaceutical companies which makes it more likely to be approved by the FDA first. It would then need to be approved by our medical board and drug association both on effectiveness and costs. This provides a potential (lengthy) time gap between it being available overseas before the UK. Children, like Florence, affected with CLN2 do not have time on their hands and if a treatments is available we will strive to do everything we can to get her that treatment. As an overseas patient she would not be covered by insurance and private costs could be required
To learn more about how gene therapy works, here's a short video to help explain: 
https://www.regenxbio.com/nav-technology/" target="_blank" rel="noreferrer noopener">https://link.edgepilot.com/s/fe3f55e4/iHgrrK5CQkC4V0x3CdF8PQ?u=https://www.regenxbio.com/nav-technology/ 
A huge thank you to the BDFA for all the work they do and the support offered by Amanda, Sian and team so far. Since the diagnosis we have had nothing but amazing support to help guide us through this difficult time and navigate the mountain of things to do whilst coming to terms with a life changing diagnosis.
The BDFA’s mission is to enable everyone who is affected by Batten disease to live life to the full and secure the care and support they need until we find a cure.
The BDFA offers informed guidance and supports families and professionals who work with them as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a range of cures.
The BDFA works across the rare disease sector to influence change in policy and processes as a collective voice.
Great Ormond Street Hospital (GOSH)
The team at Great Ormond Street have done incredible work for children affected with CLN2 Batten Disease in the UK. Special thanks go out to Dr Paul Gissen, Becky, Laura and the rest of the team who we have not yet had the pleasure of meeting.
GOSH has created a platform of hope for impacted families and they are truly making miracles happen with their constant ongoing commitment to saving and improving children's lives.

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Joe Swaffield
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