Content of the support: We help pay for the drug Voxzogo.
Amount of the support: over EUR 200 000 per support period.
Duration of the support: December 2023 – December 2024*.
*The Children’s Foundation will normally extend support at the end of the support period on the basis of need.
Introduction
Kateryna (2017) has a rare congenital condition called achondroplasia. Achondroplasia is a genetic disorder caused by a mutation in the FGFR3 gene c.1138G>A, which results in short and disproportionate growth – the limbs are very short and the head is relatively large. In adulthood, the average height of an adult with achondroplasia is 122 cm. The child’s parents and other family members are usually healthy.
Mental ability is unaffected, but there is a risk of developing middle ear problems (including hearing loss), obstructive sleep apnoea and postural problems, and the disproportionate growth can lead to severe back and leg pain in childhood.
Voxzogo is the first treatment for achondroplasia approved in Europe and the US that improves height growth by an average of 1.57 cm per year. Currently, the only alternative to the drug is limb-lengthening surgery, but recovery is extremely difficult and long-term, and the likelihood of complications is very high, which is why surgery is only performed when absolutely necessary.
Voxzogo can be used until the epiphyses have closed, i.e. until 16-17 years of age, which could result in up to twenty centimetres of growth by the end of the growing period The treatment does not increase the growth of the child’s head, neck, chest, etc., but only the limbs. As the arms and legs grow longer, the proportions of the body will improve and this will help to relieve the strain on the back and legs, reducing back and leg pain and greatly improving Katerynas ability to manage her daily life. It is important to start treatment as early as possible to get the maximum benefit.
The treatment is essential for Kateryna to achieve a better quality of life, as without it she will not be able to perform even the simplest hygiene and self-care activities, such as tying her shoes, on her own in the future. Her short stature also makes it difficult for her to get around shops and other public places without assistance, as it is difficult or impossible to reach things on shelves, door handles or switches. The condition can also affect the child’s mental health, as Kateryna’s visibly different body proportions can be a source of anxiety for other children and make it difficult for her to socialise and make friends.
This is why the Children’s Foundation, with the support of generous donors, is helping to purchase Voxzogo, a much-needed medicine for Kateryna, for €200,000 over the course of the support period.
The Children’s Foundation has been supporting Kateryna since November 2022.