Content of the support: to help pay for the medicine Robin needs.
Amount of the support: €25 920 over the period of the support.
Duration of support: August 2024 – February 2025*
* Generally, the Children’s Foundation will renew support at the end of the support period on the basis of need.
Introduction
Robin (2024) is a five-month-old baby boy with a very rare genetic condition: mucopolysaccharidosis type 1, or Hurler syndrome. The same condition was last diagnosed in Estonia 11 years ago.
It is a metabolic disease that affects all organ systems. The severe subtype, Hurler syndrome, usually lacks signs of the disease after birth. The child is first diagnosed with umbilical hernia or inguinal hernia, frequent infections, etc., and by the end of the first year of life, signs specific to the disease appear: characteristic facial features, enlargement of the liver and spleen, enlargement of the joints. If left untreated, the symptoms of the disease worsen over time: peculiar facial features, joint problems, severe mental retardation, heart damage, frequent respiratory diseases, hearing loss, visual problems, etc. If left untreated, children’s life expectancy due to the disease is significantly shorter, up to 10 years.
However, there is a treatment – enzyme therapy and stem cell transplantation. The aim of treatment is to stop the disease worsening, and the sooner it starts, the better the results. For Robin, the diagnosis came early enough and the results of the treatment are therefore expected to be very good!
Robin is ready to start treatment and the first step is the enzyme inhibitor medicine Laronidase (Aldurazyme), which costs around €4,500 a month. The health insurance does not cover this medicine today, so the little boy’s only option is the help of good donors. As a next step, Robin will have to undergo a stem cell transplant to treat his central nervous system – it is important that this takes place before he is 24 months old to maximise the therapeutic effect.
Robin’s story from birth to his harsh diagnosis is told by his mother: “We have three children in our family and Robin was very much welcomed by us all. When he was born, there was no sign of anything wrong with the baby’s health until, at the age of one month, he was infected with the RS virus, which quickly became very serious. On the third day of the hospital we were sent to the paediatric intensive care unit where our little one spent three days hooked up to various machines to help him eat, breathe etc. Luckily she fought well and we were able to go back to the regular ward.
There, however, it turned out that the body was not retaining enough oxygen.Various tests were done until they got to the heart and then the sad truth came out that our baby had a heart defect.We were put on the right medication and soon went home, until it was time for another cardiology visit, when the doctor advised us to have a genetic test to see if there was something else behind the heart failure. We did the tests and the answer came back: your Robin has a very rare metabolic disease.At first I thought it was nothing, but then the doctor went on and on and on…treatments and stem cell transplant.At that point my head just couldn’t take it all in and I still wonder why us, why our Robin, how could this have happened to us.But at the end of the day you have to accept it and learn to live with it.”