Content of the support: We are helping to pay for Desiree`s orthoses.

Amount of the support: € 100.60 (one-off) as a own contribution for the orthoses.

Duration of support: 2024*

*The Children’s Foundation will normally extend support at the end of the support period on the basis of need.

Introduction

Desiree (2019) is a little girl diagnosed with spinal muscular atrophy subtype 2, or SMA2, a genetic defect that causes paralysis of the body and respiratory muscles. Without treatment, the disease worsens and children with SMA2 subtype do not walk, their motor skills deteriorate and they remain immobile in a wheelchair. Some children die in childhood from respiratory problems, but most live into young adulthood.

Both Desiree’s doctor and various specialists believe that it is very important to start treatment as early as possible, and research suggests that treating the disease before symptoms appear is the most effective. Desiree is a very brave little girl who, in the summer of 2021, at the age of 1.5 years, said her first words, was able to sit up on her own and really wanted to follow her brother, but her legs wouldn’t cooperate. Desiree couldn’t lift her tiny arms above her chest either, and although she used to crawl, she couldn’t do it anymore. In medical terms, this is a decline in motor skills, but the child’s mental abilities are unaffected.

After considering all aspects, and in consultation with the attending doctor and the family, the Children’s Foundation Board decided to support the purchase of Risdiplam (Evrysdi). It is the latest drug that stimulates the production of a protein in a faulty gene, and Desiree’s diagnosis, age and condition matched the indications for treatment. The drug can be taken daily and the treatment lasts a lifetime.

The Children’s Foundation supported Desiree’s treatment with Risdiplam from June 2021 to December 2021 with the help of kind donors. In January 2022, the drug received national funding and Desiree, along with other SMA patients aged 0-19, started receiving it with the support of the Health Insurance Fund.

In 2022, thanks to the support of kind donors, the Children’s Foundation helped the little girl to cover the costs of home activity therapy (including the therapist’s transport costs), physiotherapy and soft blocks for physiotherapy.

In 2023 and again in 2024, the Children’s Foundation helped to purchase the orthotics that Desiree needed. 90% of the total cost of the orthotics was covered by the Social Insurance Board, while 10%, i.e. €100.60 in 2024, was the family’s own contribution, which the Children’s Foundation helped to cover thanks to the help of good donors.

Just two months after the start of the treatment, Desiree was already taking her first steps with support, and just under a year later, in May 2022, the little girl took her first fully independent steps. Today, the child who would have simply faded away without timely treatment is walking around with courage, confidence and agility. See for yourself: https://www.facebook.com/lastefond/videos/6077023205721707!

In June 2023, Virumaa Teataja also wrote about Desiree and her family.