CURE ANNA INITIATIVE
Light The Miracle
Light The Miracle
GET A CURE FOR HER ULTRA-RARE GENETIC DISEASE TO HELP ANNA AND BEYOND.
Our Mission
Cure Rare diseases with an holistic approach and scientific evidence
We need your help to Light the Miracle for our daughter Anna & all Pitt-Hopkins affected children!
Imagine a sunny child that is caged up in her own body. She wants to do all by herself, simply walk, express herself and communicate with others having just an ordinary childhood like most kids around the world. But there is a limit with a bunch of physical symptoms and behavioural patterns from vision impairment, global developmental delay, seizures to anxiety and hyperactivity. Livelong dependent. No free will or self-determination. No cure yet. That’s Pitt-Hopkins Syndrome.
As parents of Anna, we promised to do all, to get a cure and treatments for her and beyond. Since diagnosis mid of August 2022, we are giving all to make it real. Both, being already entrepreneurs in MedTech, researched and learnt on full-time basis about drug discovery and repurposing technologies, talked to hundreds of experts, affected families and finally found partners in biomed community who have know-how and experience to participate in the development of a treatment with a therapeutic-peptide based approach.
A big thank you to all our friends and colleagues all over the world for your support and hope that you gave us during this year. But now it’s time to push the execution phase forward. We need your help!
We have our ‘Tree of Hope’ and together we can Light the Miracle and make the stars glowing for Anna! Let’s make them shine as bright as possible to get big funkling in her eyes and once all Pitt-Hopkins children will be able to do their own wishes to Christkind or Santa. Give them back their childhood, a perspective for life and create a basis for self-determination! The sky is the limit.
Time counts. The earlier the wrong expression in the mutated gene is regulated to normality, the better the outcome will be and help Anna and companions in fate.
Anna’s Story
HOW A SINGLE PROTEIN CHANGE IN A CENTRAL GENE IMPACTS ANNA’S LIFE
Anna was born in December 2019 in mid of pandemic restrictions. A calm, beautiful sunshine beside her two older siblings. Already with 6 months we began to understand that there is something not developing the same way, compared to our other two children. Pedriaticians called didn’t share our opinion and partly told us fools. We insisted to get a diagnosis to understand why her muscle tone is so low. After a year of hurdles and obstacles we finally got a diagnosis and certainty. Anna is suffering from a de novo single point mutation in the TCF4 gene what is associsated to the Pitt-Hopkins Syndrom.
BOOM.
We already started with several specific physical treatments to improve her muscle tone, but now the new reality was here and it took time to accept the facts and understand how to progress with treatments for Anna.
Her neverending curiosity and will to reach goals and having always a smile, motivates us daily, to make it happen for her and beyond. No other parents shall face the same desperation and have access to early detection, treatments and therapies!
What is Pitt-Hopkins Syndrome
An Ultra-Rare Genetic Disorder
Pitt-Hopkins syndrome (PTHS) is an ultra-rare genetic disorder affecting at least 1,286 people worldwide. We know less than 10 individuals with the same de novo single point mutation as Anna has. PTHS is caused by a mutation in the TCF4 gene, which impairs TCF4 protein function, causing a number of negative downstream effects.
Beside physical symptoms, children with PTHS typically face:
- Developemental Delays
- Inability to speak or limited language development
- Inability to walk or massive delay
- Gross motor skills
- Intelectual Impairments
- Limited Social Skills
Main symptoms of PTHS:
- Behavioral problems, such as hyperactivity or anxiety
- Hypotonia
- Seizures (epilepsy)
- Constipation, reflux and other digestive issues
- High pain threshold
- Repetitive movements like flapping hands or rocking
- Microcephaly
- Myopia (nearsightness)
- Strabismus (crossed eyes)
- Breathing and Respiratory System Problems
No Cure yet
Help change the life of PTHS affected with a novel treatment
Despite all progress in the field of medicine and gene treatments, a cure for Pitt-Hopkins is not reality yet. The complexity of the drug target and unknown dependencies makes it extreme difficult to find an efficient and safe drug. With an holistic, interdisciplinary and lean scouting method we accelerate the understanding and findings for candidate methods. We scouted a more than promising therapeutic-peptide based treatment approach and believe all parameters for a successful execution are given. Together with our worldwide friends and partners network we will bring the science into clinical to develop a treatment for Pitt-Hopkins syndrome. Worldwide researchers, scientists and experts in their fields are committed to support us making a cure for Pitt-Hopkins happen.
Your Help. Now.
Donate • Share • Make Aware
Community, we need your help!
Beyond the treatment we are paying attention on two other pillars of success:
• Early diagnostics: Promote early detection of syndrome what will lead to early intervention plans. Time matters.
• Rehabilitation therapies: With implementation of effective developmental therapies outcomes will get better.
With the raised money we will set up a non-profit foundation in Europe to harmonize the actions and speed up finding a drug. All in direct collaboration with the American Pitt-Hopkins Research Foundation. Making together a global treatment reality!
1. DRUG DEVELOPMENT
The most important part of a successful treatment is having an effective, safe drug available. Several inititatives already been started and include classic gene treatments, drug repourposing and dozens of scientific studies. This precious work is done thanks an active American PTHS Community. Our research during the last year shows, that we must execute in parallel to get to a convenient result. We found a more than promising therapeutic-peptides approach, what directly targets the missense TCF4 gene to make it expressing right way. We believe this is the way to go and want to bring this into clinical as soon as possible. To execute a complete drug development program cost estimation are between 5 – 7 MCHF, where we will apply for EU Innovation grants & programs.
2. INTENSE THERAPIES
Setting up a global standard and guideline how to approach Pitt-Hopkins children with the right therapies. Special therapies are actually the only approach helping Pitt-Hopkins children to develop and gain at least some basic skills. It is daily hard and repetitive work, to get children walk or gesture pointing. We must learn much from scratch and want to give back this experiences to all other affected parents with a global Reha network and treatment plans. The treatment is as individual as the children are, but one have all in common. The intensities and form of therapies like physio, occupational and logo must be adopted to the childs need and there will be a slow gain of skills.
3. EARLY DIAGNOSTICS
We want, that nobody must face what we gonethrough until we got a genomic test result. We wanted simply understand what our Anna is suffering from. Much of wasted time, what is crucial for a good outcome in every syndrome. The earlier you get detected, the earlier you can begin with the corresponding treatments. We therfore demand to implement early detection panel tests, what can be easily set up at giving birth, but even in prenatal diagnostics. Every syndrome is time critical, independent of its nature. To think a step ahead, also many treatments could be executed in prenatal state, what would be a true game changer in treatments.
