Happy Life Against All Odds

Jonatan.

Our lovely boy, only 12 years of age (when we started his GFM fundraiser - 15 now). Interested in Pirates of the Caribbean, Star Wars, Lego, Marvel and DC universes, karate and arts. Active, imaginative, sensitive. An old soul type of a lad.

For several years, as parents, we have been struggling to understand why he has been so ‘wobbly and clumsy’ in comparison to his peers. We have tried to find causes for his difficulties in walking, running, maintaining balance and posture, poor hand coordination and fine motor skills problems. We tried physiotherapy, occupational therapy, exercising routines at home; looked for tumours in his brain; investigated red circles under his eyes, believing they were allergy related; worked to improve the clarity of his slurred speech and prevent excessive drooling. It all seems to have borne fruit, but he kept deteriorating, nonetheless.

After years of searching for explanations, we finally received a diagnosis.

He has been diagnosed with a very rare genetic disorder known as Ataxia Telangiectasia (AT).

Simply put, he has a broken/mutated gene (ATM gene) that affects the functioning of his cerebellum (the part of the brain responsible for coordinating movement). It also plays a significant role in the proper functioning of the nervous and immune systems.

The ATM gene is involved in the production of ATM protein. The mutation to the ATM gene drastically affects the functioning of that protein. The cells of the cerebellum are particularly susceptible to the loss of the ATM protein resulting in ataxia: balance disorder, walking/running difficulties, and hand-and-eye coordination issues.

The unknown origin of the red circles around his eyes has been identified as well. They are called telangiectases and are small clusters of enlarged blood vessels which are also very characteristic of AT.

Hence, the name: Ataxia Telangiectasia (AT).

As with many genetic disorders, there is no cure for AT. Physical and speech therapy are used to maintain the body's functioning and help with communication, accompanied by high-dose vitamin supplements to support the immune and nervous systems. Yet, as it is a progressive disorder, the likelihood of wheelchair assistance with movement by adolescence is very high and the life expectancy is virtually unknown due to the lack of conclusive research.

So, we have decided to seek help worldwide to maximise his chances against the odds.

Currently, there are four centres in the world specialising in AT. The closest ones to Ireland are in Nottingham, England and Frankfurt, Germany. We very much want Jonatan to be seen there. We would also like to avail of more physio, occupational and speech therapies, as 45 minutes every second week is not enough.

We are looking for donations for Jonatan to be included in international research and trial studies, which are the best opportunity for developing treatments and a chance for him to have the best independent life possible.

Thank you for being so helpful.

A more scientific explanation of AT can be found here:

Wikipedia

National Library of Medicine