Eva-Adeline (3), Saara (4), Liselle (4), and Franka (8) have Rett syndrome, a rare disorder that disrupts brain development. The devastating diagnosis shocked their families even more because the girls’ development had been normal during their first years of life until their skills gradually began to disappear. The parents watched their children fade away with the knowledge that there is a cure, but it is very expensive – today, the four girls need €323,800 for six months of treatment, and the families are wholeheartedly asking for help from donors to fight this devastating disease.
“Eva-Adeline had just turned two when we received the diagnosis and heard that her condition would only get worse over time. We were in complete shock, our dreams for the future were shattered, and our hearts were broken,” says Eva’s mother, Heidi. “That moment knocked the ground from under our feet. My mind tried to understand, but my heart refused to believe it,” says Franka’s mother Laura. “We were informed of the diagnosis by phone. My first thought was that maybe they had called a wrong number, that it couldn’t be true,” adds Liselle’s mother Jennifer.
Two and a half years ago, the first drug for Rett syndrome, Daybue (Trofinetide), was launched in the US. It slows down the rapid deterioration of the brain and has significantly improved the quality of life for thousands of people with this disease. There is currently no other treatment for Rett syndrome. This drug is not on the list of subsidized drugs in Estonia, but targeted state support for the treatment of children with rare diseases, contributions from families, and reserves from the Children’s Foundation help cover most of the necessary costs. However, the annual cost of treatment for four girls is nearly €2.3 million, and part of the amount is still missing.
Rett syndrome occurs in one in 10,000 people and is caused by a mutation in the MECP2 gene located on the X chromosome – the mutation is not inherited from the parents and the cause of the disease is unknown. Until the age of 6-18 months, the child’s development is normal or close to normal, after which the first signs of the disease appear: loss of interest in the surroundings, repetitive hand movements, including finger rubbing, and difficulty eating; speech development also stops until at some point the child no longer speaks. Social skills disappear and the child becomes irritable for no apparent reason. As time goes on, the disease takes over the body: it causes clumsiness and balance disorders until the ability to walk is completely lost.
Sleep is disturbed and cramps and epileptic seizures may also occur. The syndrome, known as a girls’ disease, can also occur in boys, but they usually die before birth. Girls who reach adulthood, however, require 24-hour care if they are not treated.
There are 12 known cases of Rett syndrome in Estonia, but according to the medical council, Eva-Adeline, Saara, Liselle, and Franka are the ones for whom treatment can bring about a significant change in the course of the disease. “The choice was not easy, but we based our decision primarily on the age and clinical condition of the girls with Rett syndrome: treatment is currently being started for those who have the greatest hope of improving their attention, speech, and communication,” explains Prof. Katrin Õunap, head of the Rare Diseases Competence Center at Tartu University Hospital. The drug improves communication between nerve cells and reduces inflammation in the brain, thereby improving social interaction skills. The drug improves communication between nerve cells and reduces inflammation in the brain, which improves social interaction skills, attention and the ability to perform everyday tasks, and reduces behavioral and sleep problems – overall, it significantly improves overall physical and mental well-being.
For Eva-Adeline, Saara, Liselle, and Franka, this is their only option: treatment is essential so that the girls can wait for the moment when gene therapy that completely stops the disease is developed. Four girls, four families, deserve the chance to fight the devastating effects of this cruel disease – please help us give them a future!
“We have a picture on our wall at home of a girl holding a surfboard on the beach. Whenever I pass it, I always think that it is Saara. My husband and I still dream that one day, when Saara is grown up, she will send us a postcard from her travels, saying that she went surfing and loved it,” writes Saara’s mother, Eneli.
You can help in several ways: by selecting “Retti tüdrukud” from the donation form located at lastefond.ee/anneta. You can also make a bank transfer indicating either “Retti tüdrukud” or the name of one of the girls.
SA Tartu Ülikooli Kliinikumi Lastefond
Bank: Swedbank
Address: Liivalaia 8, Tallinn
IBAN: EE682200221015828742
SWIFT: HABAEE2X