No one is protected from having a child with a serious illness or genetic disorder, but is it still possible to live a fulfilling life if you have a serious illness? Yes, if a treatment exists and the illness is diagnosed before symptoms appear. The only way to achieve this is by screening newborns.
According to doctors, it is unacceptable that in a situation where a treatment exists, we reach a diagnosis only after the illness has already done its damage. To change this and to give peace of mind to the approximately 14,000 families who have a child each year, we started supporting screening tests for newborns at the Genetics and Personalized Medicine Clinic at Tartu University Hospital. The hospital currently receives and analyses gene samples from newborns from all over Estonia.
In 2022, we started a pilot project together with geneticists to screen newborns for spinal muscular atrophy (SMA), which is a serious muscular disease which can in severe cases result in the death of the affected child. Spinal muscular atrophy is an illness that may result in weakened muscles, paralysis of respiratory muscles and death. Children affected by type 1 of SMA generally die before reaching three years of age. SMA affects one out of 6,000 to 20,000 people. The pilot project proved itself to be necessary already within the first month, when the first child with an SMA diagnosis was discovered during screening. Today the young boy receives treatment and does not have SMA symptoms. Doctors and scientists are hopeful that the boy will continue to live without symptoms. The Children’s Foundation is supporting SMA screening by covering a part of the cost of analysis kits and reagents. We are supporting the pilot project with 42,000 euros.
In 2023, a new screening programme was launched with the support of the Children’s Foundation, where newborns are screened for cystic fibrosis and adrenal hyperplasia which is a genetic disorder affecting the adrenal glands. Cystic fibrosis is the most common life-shortening genetic condition. It causes sticky, thick mucus to build up in organs which blocks glands and causes pathological changes in tissues. At one point, the affected person will not be able to breathe independently. Treatment exists for keeping cystic fibrosis under control but the treatment is not covered by the Estonian Health Insurance Fund. The Children’s Foundation is helping to cover the treatment costs for 11-year-old Nora-Liisa. We are also supporting the screening programme with 200,000 euros per year.
In addition to the screening programmes, the Children’s Foundation is also helping to purchase a new device that is needed to diagnose metabolic diseases more accurately – a quadrupole time-of-flight high-resolution mass spectrometer with high-resolution liquid chromatography. The device costs 560,000 euros plus value added tax which is paid to the state. The Children’s Foundation is covering 75% of the costs of purchasing the device.