Content of the support: to help pay for the medicine Translarna (Ataluren) that Kevin needs.
Amount of the support: approx. €361 000 over the period of the support.
Duration of support: February 2024 – July 2024*.
* As a general practice, the Children’s Foundation will renew support at the end of the support period on the basis of need.
Introduction
Kevin (2011) has a serious rare disease – Duchenne muscular dystrophy. It is an inherited progressive muscle disease that affects five out of 100,000 people and starts in childhood. Initially, the muscle tissue volume of the affected muscle increases and muscle weakness develops, with all muscles atrophying as the disease progresses. Children’s mental abilities are unaffected, but by the age of 12-13 they are confined to a wheelchair. If left untreated, the disease progresses very rapidly, leading to death in the early twenties.
From February 2023, Kevin will receive the drug Translarna (ataluren), thanks to the support of kind donors of the Children’s Foundation. According to Kevin’s doctor, Dr Eve Õiglane-Šlik, the treatment, which began a year ago, is working perfectly: “The result is amazing – he is now 12 years old and walks long distances independently, gets out of bed quickly, is optimistic and his mental concentration is much better than before. From my point of view, it’s a miracle, because at this age all our patients have been in wheelchairs for a long time.
Translarna is used to treat children with Duchenne muscular dystrophy over the age of two who are able to walk and have a rare “nonsense” mutation in the DMD gene. Kevin meets all the criteria, as confirmed by Annemieke Aartsma-Rus, Professor of Genetics at Leiden University in the Netherlands, and Katrin Õunap, Professor of Clinical Genetics and Head of the Competence Centre for Rare Diseases at Tartu University Hospital.
Translarna treatment has recently been approved in the UK, where it will be publicly funded for all patients over 2 years of age and still walking with non-syndromic Duchenne muscular dystrophy,” said Professor Katrin Õunap, “The national decision was made after 6 years of clinical trials in which the drug was shown to delay irreversible muscle wasting and slow the onset of both movement and breathing difficulties, including the need for a ventilator.
But who’s going to help a child who doesn’t have the most important thing of all – his family? Kevin lives in foster care and has no parents to look after him. Kevin also lost his uncle to the same disease he suffers from. The only ray of hope is a drug that will dramatically improve his quality of life – but without the help of good donors, it’s out of reach for Kevin, who lives in a foster home, because his health insurance won’t pay for the treatment.
The medicine is very expensive, one of the most expensive in the history of the Children’s Foundation. It would be easier to throw up our hands and say there’s nothing we can do… But at the Children’s Foundation we can’t do that, because every child counts. Really counts!
Kevin’s treatment will cost a total of €361,000 over the next six months, including VAT paid to the state. The local government, Municipality of Tartu, has agreed to support Kevin’s treatment again this year and will contribute €16,000 per half year.
A full year of treatment has shown that the drug works. To ensure that Kevin’s treatment is not interrupted, please help us!