H-abc Connect

Meet Frankie 6, Sofia 10, and Aggie 12. They’re one in 7500 kids born each year with one of 52 devastating childhood brain leukodystrophies, that rob them of their abilities to walk, talk and will take their lives. They live 80km apart, but met by sheer luck, there’s no tool to connect them. 3 kids against 1 disease is better than alone. Imagine if all 200 kids with H-abc, one of the 52 Leukodystrophies, and their clinicians supported each other.  200 sounds low, don’t let the numbers fool you, there are more. 60% of UK cases are misdiagnosed. It’s hard to get accurate information, treatment, or support when you are part of the 0.001%. H-ABC Connect is a single scalable app providing answers via personalised AI tools, a single integrated database, and Virtual, Augmented, and Mixed Reality clinical tools for early detection, diagnosis, treatment, research, monitoring, engagement, and support.  

One of every 7500 kids born each year are diagnosed with one of 52 devastating childhood brain leukodystrophies, that rob them of their abilities to walk, talk and will take their lives. There’s no tool to connect them and they need to be connected and supported. H-abc  (Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum) is one of the 52 Leukodystrophies is caused by a mutation in the Tubb4a gene and is frequently misdiagnosed and underdiagnosed. Many children receive a Cerebral Palsy diagnosis and then only after some deterioration, potentially years later, receive an H-abc diagnosis. Once a treatment option is available in the near future, then the sooner children are diagnosed the less skills they will lose. More children’s lives will be saved the sooner they are diagnosed once a gene therapy is available. There are currently approx 200 children across the world diagnosed with H-abc but a recent study has demonstrated the prevalence is much higher. The problem is that there is a lack of education in rare diseases and this online platform would educate professionals and arm parents with the relevant knowledge and tools to have the confidence to ensure the correct diagnosis is made. 

H-abc Connect is an App which will be accessed on mobile devices. 

It will have 3 aspects:

1) Connections - an interactive map and database showing where the cases are, where the medical professionals are based and where to access treatment options once available. Gene tracker and epidemiological maps will help track the prevalence and where the disease is diagnosed and the gaps in diagnosis. 

2) Diagnostic - AI MRI diagnostic tool and detection with VR/AR/MR (XR) extended reality) tools. It is often the case that patients with different TUBB4A mutations have different levels of hypomyelination that are poorly understood or correlated with the specific mutations. That's why imaging VR will facilitate more efficient diagnosis in many of these cases. Ongoing we would further develop using AI tools to aid diagnosis. 

3) Education and support - educational videos and papers about the disease, the progression, treatment options, and other info for families. Using VR 360 to demonstrate the struggles that the children have on a day to day basis. Integrated mental health support for patients, families and clinicians. Forums to help families ask questions and advice 

The solution will serve the needs of the H-abc patients and their families. Being in the rare disease community often comes hand in hand with a battle to get accurate information, treatment and services. We aim to have all resources in one place so families know where to look and to access support. The solution will be designed by parents who have been through the diagnosis process and know how devastating it is. We know how it feels to be told “there is nothing we can do, go home and enjoy the time you have left”. We want parents to have a space they can access with all the information so they don't have to spend days searching the internet for information and not knowing what is relevant and up to date. Once a treatment is available, early diagnosis will save lives. The H-abc children lose skills such as walking, talking and feeding themselves. Once a treatment is available, the earlier they are treated the less skills they will lose. We have spoken with parents who have diagnosed their children themselves and then had the task of persuading the medical professionals to look by taking medical papers and examples. The online platform would have resources that can be used by medical professionals to aid diagnosis. 

60% of UK cases were originally misdiagnosed, when your disease is neurodegenerative time is so important. If we can quicken diagnosis this will not only lessen the trauma for the families but can also provide treatment and support at an earlier stage. 

Being a parent of a rare disease child is a shockingly lonely place and no one quite understands what you are going through. When you connect with other parents it's a lightbulb moment. As a charity we are in contact with the large majority of diagnosed families and to be able to signpost them to this online platform where they can keep up to date and connect with other families would have such a positive impact on their lives. The technology we propose using exists but we are using it in an innovative way to aid diagnosis and as an education tool. Once up and running the platform would be sustained by the charity and we would encourage other rare diseases to use the same format. 

We have a live website up and running and social media groups for family connection - these are working well but we would like to formalise this service. Everything we are proposing exists but we will personalise it for H-abc and have it all in one place for families and professionals to access. 

Our solution involves combining a range of information and tools to enable parents and medical professionals to connect and educate themselves about H-abc. Using VR 360 technology would give another level to the understanding of the disease and the impact it has on the children. It is a common story of rare disease advocates that they do not know where to access relevant and up to date information. We would solve this issue by putting everything in one place and increase parents' understanding of the disease. Parents of children with rare diseases are the experts in the disease - it is very common that we know more than the doctors! The platform would enable parents to signpost the professionals working with their child to information that has been compiled and checked by the experts. We have the top scientists in this field on the charities Scientific Advisory Board who will advise us. 

This could begin a shift in the patient power, when a patient has access to the correct information and they can show their clinicians information, that has been intended for clinicians, it could be a game changer. 

Our solution would be an App and the different aspects would include other technology. We plan to use VR 360 to aid the diagnostic tools and also in awareness videos. Using VR to highlight the reality for children with H-abc and the struggles they have. 

AI and VR 360 are currently being used in the medical field. Below are some examples - 

AI is being used to help diagnose conditions, this paper below discusses the “swarm Learning” use of AI to diagnose blood diseases and lung cancer https://www.sciencedaily.com/r...

 Below are 2 organisations that use VR to educate patients and clinicians, we are contacting these organisations to see how we can work with them. 

 https://surgicaltheater.net/services/  Surgical Theater’s Precision VR is building powerful patient engagement and educational opportunities for surgeons, patients and their families. 

https://www.empower360foundati...

The only risk is privacy - we will ensure that privacy laws are followed, patient details are kept securely and permission is granted before any details are shared between families. 

Currently there are approx 200 diagnosed cases of H-abc but this number is continuing to grow.

The platform is not only for those diagnosed but the families too, therefore;

Currently 200 families

In one year approx 300-400 families

In five years over 1000 families - this number could be much higher as it is believed the prevalence is much higher than currently diagnosed. The disease presents similarly to Cerebral Palsy and it is common for a diagnosis to come later once a child begins to deteriorate. 

Once the App is up and running we would encourage other Leukodystrophy groups to follow suit. 

Our impact goals are:

 1) Reduce the stress and loneliness of getting an H-abc diagnosis. By connecting the current 200 known cases of H-abc, we would provide an online support group within the first 6 months and also provide information about the disease. This would be achieved through social media and current connections. We believe we have connections to all current known cases and our goal would be to add all newly diagnosed families within 2 years. 

2) Make contact with clinicians that currently work with H-abc patients to add their details to the app.  We have begun to compile a database of the clinicians treating the current patients through families sharing details. This will be completed by end of year 1 

3) Contact clinicians that work in the field but do not work with H-abc patients to make them aware of H-abc. We have started to compile data of these clinicians, and this will be an ongoing piece of work.  

4) Increase the diagnosis of H-abc. Through educating clinicians and AI and VR tools to make diagnosis easier. In the UK c. 60% of cases were originally misdiagnosed. We aim to reduce it to under 20% within 5 years. 

5) Share app success with other Leukodystrophy patient advocacy groups to connect the other rare disease patients

We will measure the stated impact goals by:

1) Number of connections on the app, families that are using the App and accessing the information. Evaluation from the users. 

2) Number of clinicians details added to the app

3) Number of clinicians that are contacted and agree to access education tool and signpost patients to the app

4) Number of newly diagnosed patients each year and the decrease in misdiagnosis 

5) Number of other Leukodystrophy patient groups which contact us and follow suit to produce a disease specific app

4 people are working part time on this solution, they are charity founders and volunteers. 

We are rare disease patients and parents. We have all been through the diagnosis process and know what a tough time it is to be told there is nothing that can be done. We know how difficult it is to find accurate information and to link with other parents. One of our team is training Geneticist and is working with doctors on gene therapy for H-abc. We have a Scientific Advisory Board which includes Dr Vanderver at CHOP who is the leading clinician working on H-abc. As H-abc parents we are committed to supporting each other and driving forward the agenda to raise awareness about H-abc. We understand how it feels to receive a diagnosis and what could make this time less stressful and lonely. As a rare disease charity we are connect with many H-abc families, we have discussed what would be useful and aid their rare disease journey. Everything we do is for the H-abc children and we are astounded by their continuous courage. 

Our team of volunteers are all people that have been affected by H-abc. They include men, women, different ethnicities and educational backgrounds. We embrace and include anyone that wants to support our cause. The children affected by H-abc are disabled and we include their opinions and feelings throughout our process.

The project is being led by the courageous children with H-abc and supported by parents and families. Everything we do is focused around the H-abc children and how their lives can be enriched. 

The charity H-abc Foundation UK is run by the 3 families of Frankie who is 6, Sofia who is 10 and Aggie who is 12 and they all have H-abc. 

As rare disease parents we know how lonely it is and when told to go home and make the most of the time you have left with your child it is heartbreaking. To take away all the stress and trauma of spending days searching the internet would be invaluable. Clinicians often don't know much about the disease so cannot answer the question you have. If they could signpost families to an official charity App that could fill in many of these blanks it would benefit the clinicians too. As a charity we are committed to progressing forward with this App but with financial and expert support it would be much easier and faster!

We know what is needed to support the H-abc families but need some guidance with the technology and our strategy ensuring our App is scalable to other Leukodystrophies groups. As a charity we have the disease knowledge and passion to support families but would love to have technology experts to guide us. We know how useful and life changing this App could be. We know our H-abc community is much bigger than currently known. With a larger community we will have more power as a patient advocate group. To have an App that was used by clinicians would have a real impact on our community so support ensuring it is technically outstanding would really encourage use. 

Any organisations that are in the AI or VR industry and could support us producing the correct materials for the App. 

We know the community and what is needed but we need some support as we are not technical people! we know the basics, for example keeping our website updated, but AI and VR is new technology for us as a charity.