Stop Friedreich's Ataxia

- We circled the doctors and had no diagnosis - even after many tests and hospital stays. All we heard was: "you have to exercise." And the disease progressed," recalls Teresa Brzozowska-Nieczaj, mother of the twins, Karol and Kacper Nieczaj. Today the brothers are studying history at Bialystok University, but ataxia made its presence known when they were 10 years old.
- I noticed changes in the boys' figures. They began to hunch over. The orthopedist recommended rehabilitation. Despite exercises and a corset, the scoliosis worsened, and around the age of 13 the boys' gait changed - they set their legs wide and moved with a wobbly step, their mother adds. Previously, the brothers were athletic - they played soccer, Kacper trained in karate.

Several years pass before a diagnosis is made

For 75 percent of patients, the diagnosis is made after the age of five, but before the age of majority. It is usually preceded, as in the case of Karol and Kacper, by a long trek to various specialists. If scoliosis, for example, comes to the fore, it does not arouse suspicion for a long time - many children have curvatures of the spine.

- It took six years to establish the diagnosis. We remember that day - May 6, 2019, our 16th birthday. The end of middle school, the choice of high school - due to health problems, unfortunately, not the one of our dreams, and the sight of a weeping mother. The disease wasn't so advanced at the time, so we didn't really care, but we didn't want to talk about it," Karol and Kacper recall.

Only genetic testing provides certainty

The disease was first described in 1863 by a German doctor - Nicholaus Friedreich. It was not until more than 133 years later - in 1996 - that scientists found the genetic mutation responsible. It's the one in the FXN gene, which encodes frataxin, a protein responsible for iron metabolism. A deficit in its production leads to degeneration of the nervous system, and often to disorders of the heart muscle.

- About one in 90 people is a carrier of the defective gene. In the case of a pair of two carriers, there is a 25% risk that the child will develop the disease," says Prof. Dr. Katarzyna Kotulska-Jóźwiak, head of the Department of Neurology and Epileptology at the Children's Memorial Health Institute. It is estimated that between 120 and 150 people in Poland suffer from Friedreich's Ataxia.

Once the diagnosis has been made on the basis of clinical symptoms, only genetic testing gives certainty that it is Friedreich's Ataxia. Most often, a test performed by PCR is sufficient. Along with the diagnosis, the patient also hears that he suffers from a rare, neurodegenerative, incurable genetic disease, leading to dependence and shortening life.
So he is aware that he has to be under the care of many specialists - including neurologists, physiotherapists, ophthalmologists, cardiologists, diabetologists, and in Poland this usually means waiting many months.

Friedreich's ataxia progresses. Over time, impaired coordination makes it difficult not only to walk, but also to perform everyday or precision tasks, such as buttoning buttons. There are problems with speech - it becomes unclear, difficulties with swallowing that make eating difficult or impossible, diabetes, eyesight deteriorates (sometimes due to neuropathy it is lost), hypertrophy of the left ventricle of the heart leads to cardiomyopathy, and, in addition to scoliosis, foot deformities are characteristic (horse-toe or so-called hollow - with too high an arch).

Rehabilitation has long been the only salvation

- We exercise almost every day, focusing on strengthening the body's muscles and maintaining balance - this is our medicine for today, which allows us to function, the twin brothers say. They motivate each other, and they also have the support of their older brother. Worse with their friends - they have drifted apart.

Lidia Nowicka-Comber, mother of 14-year-old Frank and president of the Friedreich Ataxia Patient Foundation: - Due to the progression of the disease, Franek had to change schools because there were architectural barriers. In the new one, he found wonderful teachers, but felt that the disease was distancing him from his peers. Due to the gradual loss of dexterity, Franek stopped playing soccer, learning to ride a bike proved impossible, participating in class outings and events became dangerous. It is extremely difficult, suffering from ataxia, being an intellectually very capable person, to accept and accept his difference.

After the initial shock of learning what her son was suffering from, Lidia Nowicka-Comber began to work intensively - she read English-language and her sister Spanish portals, looking for information about the disease or clinical trials of drugs. She attended conferences on Friedreich's Ataxia in the US, and shared the knowledge she gained with patients and their relatives. But for a long time it was knowledge mainly about rehabilitation methods to make coordination problems, weakness, spasticity and loss of muscle strength not progress so quickly.

Hope for FA patients

Agnieszka Pogorzaly is 45 years old and has been in a wheelchair for 20 years due to illness, but she still works remotely for a chain of detective stores, and travels a lot, including abroad. And she has even decided to go skydiving.

- I want to show that life in a wheelchair, although difficult, should not exclude you from anything. If someone says I won't do something, I want to show that I can do it," she says. As a 13-year-old, she spent long weeks in hospitals, away from her parents. She believes this toughened her up.

- I like to overcome weaknesses. Sometimes I fall on the floor, but I rarely and briefly cry. Rather, I wonder how to get up," he adds.

- Sometimes we are perceived on the street as being under the influence of alcohol or drugs," say twins Kacper and Karol. Once they were even stopped by the police. To avoid exposing themselves to such situations, they avoid going to public places - such as stores. And since they don't want the disease to lock them up at home, they got their driver's license three years ago. And they study stationary rather than remotely.

Last December brought them and patients around the world hope that medicine had more to offer them than just rehabilitation after all. It was then that the first drug to slow the progression of the disease was registered in the US (and in the European Union in February of this year). - This is the first ever treatment option for the disease," says Prof. Katarzyna Kotulska-Jóźwiak.

The treatment affects intracellular antioxidant mechanisms and mitochondrial function, slowing down the progression of the disease in terms of swallowing and speech disorders, upper and lower limb coordination, and postural disorders, Professor Katarzyna Kotulska-Jóźwiak enumerates.

- I never worry too much about the future, because it's a straight road to depression, but when I heard that a cure had appeared for us, hope rose in me! - says Agnieszka Pogorzaly.

The drug can be used by patients who are at least 16 years old. It is not yet reimbursed in Poland. It is only possible to use it under RDTL - rescue access to drug technology.

Lidia Nowicka-Comber, president of the Friedreich Ataxia Patient Foundation, adds: - This drug is a great opportunity to improve the health of our patients. We want to restore hope to those who have already lost it and have given up discouraged by the failures of treatment and rehabilitation attempts. We hope that Polish patients will soon also have access to this therapy. After years of no concrete treatment option for FA, we are close to victory!

Source: press mat.