Value of little Martin's live: 100 million

Our Story…

Martin was born as a seemingly healthy baby at first glance, but soon the first troubles emerged… He didn’t want to latch on and despite all efforts involving different diets, restrictions, and medications, he suffered from severe abdominal pain, excessive sweating, and other initially inconspicuous symptoms. The idea of a very rare form of genetic disorder hadn’t even crossed anyone’s mind back then…

The first more serious issue arose when he was three months old, undergoing the first of a total of 9 hospitalizations, this time due to acute bronchitis. In the following months, he was hospitalized repeatedly, and it was becoming clear that something was amiss. After various examinations and an MRI of the brain at the Olomouc University Hospital, where nothing specific was detected, Martin was recommended for more detailed assessments at the Motol University Hospital (Prague).

We first came to Prague in January 2023, when Martin was a year and a half old, and the situation had already become unbearable for all of us.

The constant suctioning with a tube to help him breathe and ingest food was particularly unbearable. We suctioned almost non-stop for a year and a half, sometimes multiple times per hour… countless sleepless nights when we held our breaths, listening to each inhalation, trembling with fear, facing the unimaginable. Another test of patience was the feeding itself, spending an hour or more painstakingly feeding him spoon by spoon. However, the amount of time and effort spent, along with frequent vomiting spells, didn’t align with the nutritional intake, leading, together with bouts of vomiting, to our boy’s overall malnutrition and the emotional exhaustion of the other family members.

During the last month-long hospitalization in Prague, the diagnosis was finally confirmed…

AADC Syndrome

It’s an extremely rare genetic disorder (with about 120 confirmed cases worldwide) that affects the brain’s neurotransmitter metabolism. This syndrome is caused by the insufficient function of the AADC enzyme, which is crucial for converting amino acids (like dopamine and serotonin) into the corresponding neurotransmitters necessary for proper communication between nerve cells.

People with AADC syndrome often experience severe neurological issues.

Issues include such muscle weakness, movement disorders, sleep disturbances, swallowing difficulties, and many other challenges. The severity of the syndrome can vary, and symptoms may differ among affected individuals. Given that neurotransmitters play a crucial role in the nervous system’s functioning, AADC syndrome can profoundly impact overall neurological development and an individual’s functioning.

Martin has the most severe form of this condition and is entirely dependent on the care and assistance of others. He lies down and can’t hold his head up without our help. He’s hypotonic (floppy), frequently vomits out of nowhere, sweats excessively, experiences muscle spasms of varying intensity (sometimes several times a day), similar to epileptic seizures, and has significantly weakened sucking/swallowing reflexes, leading to portions of ingested food (or liquids) ending up in his lungs. Looking back, this turned out to be the main reason for the persistent extreme congestion that accompanied us from the first hospitalization until the introduction of an enteral feeding tube, known as a PEG tube, in May of this year.

What will the funds from this fundraiser be used for?

After the diagnosis was established, symptomatic treatment was initiated, which alleviates some of the difficulties but doesn’t cure the disease itself, and after 4 months, it brought only small progress. On the other hand, available gene therapy provides a chance for a relatively normal life, where most of his current issues should completely disappear, and of course, ‘the sooner, the better’ applies. For children with such a severe form, the only option is the earliest possible administration; otherwise, available studies indicate mortality between the ages of 5 and 7.

Due to the rarity of the disease, this therapy is not covered by health insurance, and unfortunately, our health insurance company rejected our request for coverage of the treatment.

The cost estimate for the gene therapy using the drug UPSTAZA, as of July 2023, is €4,230,200 EUR (approximately 100 million Czech crown).

For this reason, we have decided to start raising funds for this treatment for our Martin ourselves, and we will be infinitely grateful for any and all help.

If it’s not possible to fund the gene therapy with the raised money, we would like to use the funds for additional expenses associated with the daily care of our son, such as rehabilitations, visits to specialized medical facilities, and healthcare-related aids and compensatory devices.

The money will be used exclusively for Martin’s needs, or potentially for other fundraising initiatives.