Anya is 1 in a million: Funding for all AHC Kids & Gene Therapy Research

We are so grateful for all the amazing support, messages and generous donations to research from our wonderful family and friends in 2018.  A heartfelt thanks. We have been blown away by your kindness! 

In February 2018 at 6 months old, Anya was given the diagnosis of Alternating Hemiplegia of Childhood (AHC) after genetic testing for the ATP1A3 gene. This is an extremely rare condition, affecting one in a million; it arises from a chance, non-inherited error. It is something we had neither heard of nor something we could ever have envisaged our precious first-born having to struggle with. It’s been a very difficult year and we’ve seen symptoms (sometimes life-threatening) that we wouldn’t wish any parent to witness.  AHC has effects beyond the neurological ones and sadly Anya has had breathing and cardiac difficulties too. Almost all children with AHC have physical, cognitive and developmental disabilities across a spectrum. By the age of two 50% have epilepsy; and there is much being discovered and investigated about the cardiac and other life-threatening aspects of this condition.  

Your support has kept us going through these challenging times and we can never thank you enough. We know every day we have with Anya is precious and this year has reminded us of the fragility of life. We treasure any and every milestone she makes, however small or delayed, and take inspiration from her beautiful smiles and the joy she brings. Despite starting 2019 with Anya in and out of paralysis, distress and a host of neurological symptoms, we now have real hope for advancements in AHC research.   

There is currently no effective treatment for this condition. In addition, as it is extremely rare it doesn’t attract the traditional funding from drug companies. However, the hope on the horizon is AAV gene therapy for the ATP1A3 gene - (the gene responsible for approximately 75% of people with AHC).   

Therefore, we ask again if you could kindly help us. Anya is One in a Million and our rare gem. If you have even £1 or $1 and can help share this page with others who might also contribute, then with the power of sharing and social media that £1/$1 may become something powerful and contribute to the funds we need to progress this vital AAV gene therapy research.  Our worldwide AHC community has until April 2019 (less than 3 months away) to raise the money. 

What is AAV gene therapy for ATP1A3? 

AAV refers to Adeno-Associated Virus, a non-pathogenic virus which is used as the vector in many types of gene therapy.  A vector is a transporter or vehicle which can get the “good copy” of the ATP1A3 gene into the brain. It will be injected into the brain where it will hopefully then dominate over the “bad copy” of the gene.  

Researchers across several countries have already started. They are preparing the vectors, the “good copy” of the ATP1A3 gene, and the mice “models” which have AHC. In April 2019 all will be ready to inject AHC mice with the good copy of the ATP1A3 gene.  Once this is done researchers and clinicians can analyse the effects to see if the AHC symptoms improve or even, potentially, stop completely!! 

The April 2019 trial is a pre-clinical, non-human trial and is essential before we can move to testing the gene therapy in humans.  If the results are promising, ethical approval will be sought to fast track onto a clinical (human) trial given it is an extremely rare condition with no effective treatment. Indeed, the prospect for AHC gene therapy is exciting scientists and families since it may bring real hope for a devastating condition.  

Several foundations have already contributed money towards the first phase of this research (AHCF, CURE AHC, Hope for Annabel and numerous international family and parent AHC organisations worldwide).  Our families across the world are still trying to raise $500,000 towards the April 2019 stage. So far approx $100,000 has been raised and we passionately believe that every £1/$1 counts.  

Without this money this April 2019 landmark step cannot happen and we will be left never knowing if it would have worked or resulted in life-changing treatment for those with the ATP1A3 gene defect.  No research can ever guarantee success, but there is a real chance and without this important April step there is no chance to move onto clinical (human) trials.  

To lose that opportunity is not something any parent whose child has AHC wants.  In future, understanding AHC may also benefit many other diseases and conditions as our children with AHC experience almost all variations of neurological disorders in their range of symptoms.

Gene therapy is not as futuristic as previously thought.  In the last 5 years there have been major advancements in some other rare paediatric neurological diseases with gene therapy including Spinal Muscular Atrophy, Giant Axonal Neuropathy and Batten disease. Some of the expert researchers working on AAV gene therapy for ATP1A3 have worked on gene therapy on Giant Axonal Neuropathy which is now in (human) clinical trials.  

This research is being conducted in the USA so we are asking for donations direct to AHC F (USA AHC Foundation). They are working along with CURE AHC to jointly fund this project given the significance it has for so many with AHC.  It may even be able to help those without the ATP1A3 gene in the future if more genes are discovered that cause AHC.  

We are grateful for whatever you can give for all the One in a Million AHC heroes who suffer each day with this condition. If you could give even £1/$1 and share this page with friends who could do the same then each £1/$1 will add up.   

Our Anya is a One in a Million with this rare condition - she needs your financial help as well as your kindness in spreading the word to your contacts. If we can reach a million contacts by our story and message being passed on through your friends and contacts, we can surely achieve our targets and possibly a cure for Anya is within reach.  

No donation is too small. Thank you for anything you can contribute or share with others. For more information on the project there are links to videos below.

Link to Steve Gray Gene therapy chat at Chicago ATP1A3 conference:

Link to Simon Frost Gene therapy chat at Chicago ATP1A3 conference:

Link to Human Timebombs video: 

For contributing and being engaged with the Just Giving page visit here:

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The Videos are copyright to AHCIM YouTube Channel