Arthur was born in April 2016, our beautiful healthy baby boy. He was a strong, healthy baby boy, our joy, our happiness, our world.
I noticed from around 1 month old that he was making unusual movements that looked to me like seizures, I mentioned this to the health visitors, but was told it was normal. I continued to notice these movements as he grew and once he was able to sit in a high chair, he seemed to drift off for short periods of time. Arthur had a strange eye squinting he would do ALL the time, blinking and closing his eyes. So many people used to comment on this eye movement, "oh he is tired". I wanted to shout "he is NOT tired", something is wrong. He was slow to meet milestones and well-wishing friends and family would say "everything is fine", "boys are slow", "don't worry", but I kept worrying because I knew in my heart everything was not fine.
By the time Arthur started to crawl he was falling on his face from all fours. His little head was covered in bruises and I had to start pushing harder to be heard. It took another 7 months to get the EEG that confirmed Arthur has epilepsy. Because of his age an MRI was done and genetic blood screen was sent off to 'rule out' a more sinister cause of the epilepsy. Our worst nightmares came true when I received a phone call confirming Arthur has a very rare genetic mutation which science currently knows very little about. Just 50 diagnosed children in the world currently. We still don't know how to process this information.
Arthur could have a 100 of these short absences a day missing out on huge amounts time and information.
This mutation is so rare it has not yet been named and is known only by the gene - SLC6A1. His prognosis is unknown. Our entire world became suddenly very small and very fragile. Everything we see in our son from absences and eye flickering, to muscle weakness, developmental delay and behaviour was all listed on a genetic diagnosis relating to SLC6A1.
Arthur is on his 4th medication for the rare form of epilepsy caused by SLC6A1 which doesn't respond to usual treatment plans. We see improvements in his development, followed by setbacks and he continues to have absences and myoclonic seizure activity. He needs physiotherapy, occupational therapy and speech and language therapy. He is at risk of developing scoliosis and being on the autistic spectrum. I grieve for the things he cannot do and I fear what might lay ahead for Arthur. Our hopes and dreams are that he will live a full and happy life and is able to meet his full potential using the support and treatment available.
Of the children currently diagnosed, many also have autism as well as similar epilepsy, hypotonia, development delay and fatigue. The only hope for treatment is gene replacement therapy. A group of scientists at UT Southwestern are developing this therapy that will help not only Arthur, but every child with this condition. With the funds raised so far by families affected by SLC6A1 a MAJOR BREAKTHROUGH has been reached by our dedicated team of scientists. The gene therapy treatment is now actively treating mice infected with the same gene changes as Arthur. If all goes as hoped, the mice will show improvement and this data will go before the Federal Drug Administration to approve the therapy for human use.
The founder of our US charity SLC6A1connect.org Amber Freed and her husband Mark are parents to Maxwell who is affected by SLC6A1. They have used all their resources for initial funding, but we still need to raise millions to advance treatment from bench to bedside. If we do not raise the money, the research will be tabled due to lack of funding. They have been campaigning relentlessly in the US to raise awareness and funds: https://slc6a1connect.org/media/
How can you help?
* Every little bit help. Even £5 inches us closer to our goal.
* Please share our link: gofundme.com/f/answers-for-arthurslc6a1-raregenes
* Hashtag us #answersforarthur, #milestonesformaxwell, #chasesinghdreams, #SLC6A1
* SLC6A1connect is a 501c3 (US) - our website is http://www.slc6a1connect.org
We are now a registered UK charity 'Arthur's Quest-1185380' We can claim gift aid in retrospect if you would like to send us your name, address and email confirming you are a UK tax payer with your donation. We are looking to change the page to a charity page and will be launching the website and facebook page very soon.
1) Is gene therapy proven?
Absolutely. Just google the drug Spinrazza for spinal muscular atrophy, Kymriah for acute lymphoblastic leukemia, or the clinical trial for giant axonal neuropathy. The key for all of these paediatric conditions is early treatment. Children are being given a second chance.
2) Does gene therapy for SLC6A1 help other, more common diseases?
A mutation in SLC6A1 causes a disruption in the chief inhibitory neurotransmitter known as GABA. GABA is directly linked with epilepsy, autism, schizophrenia as well as many other neurological conditions.
3) Do you have a website?
www.SLC6A1Connect.org: Please sign up for our newsletter on the website to follow our progress.
www.arthursquest.org: watch this space, under construction.
4) Where will proceeds go?
All proceeds will go to fund SLC6A1research at UT Southwestern, as well as research specifically working on treatments for SLC6A1 at reputable institutions like Penn and KCL. We are strictly volunteer based mums working toward a cure.
5) Why is this disease so rare?
The gene that causes this disease was discovered in 2015 and doctors didn't begin testing for the disease until late 2016. There are most likely thousands of people with this disease but they don't know they have it. Part of our mission is to raise awareness so we can reach more patients.
6) The treatment is already being worked on and is has currently reached stages of of initial testing. It has come so far in the last year, but the journey ahead is still huge and needs all the support it can receive.
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