'All of the Netherlands looks at Jayme'
How is Jayme doing now?
Jayme (2) is misschien wel de beroemdste peuter van Nederland. Hij lijdt aan de zeldzame spierziekte SMA. In de ban van het vrolijke ventje doneerde Nederland massaal toen zijn ouders een landelijke crowdfunding-actie startten om hem te kunnen behandelen met een peperduur medicijn. Hoe gaat het nu met Jayme?
SMA (Spinal Muscular Atrophy) is an inherited muscle disease that usually develops in children at a very young age. The disease affects muscle control.
'We knew nothing about SMA,' says Arwen, Jayme's mother. 'It doesn't run in our family at all, so we weren't alert to it either. Jayme was a little weak, but what do you know when you first become a parent?
'At the health clinic, after four months, they said Jayme should lie down on his tummy anyway. He never wanted to, so we were referred to physical therapy. My mother thought he didn't do much with his legs. But what is normal? You read about jumps that children make in their development. During such a jump, it could well be that he doesn't do as much with his legs, we thought. It was only after four months that we raised the alarm. His neck was getting weaker.
The pediatrician Jayme could go to was immediately very concerned. Dna testing followed, then the diagnosis. Arwen remembers it well. The muscle disease from which Jayme suffers is fatal, we were told; most children die before the age of two. What do you do at a time like that? My husband and I immediately started looking for possible treatments. There was gene therapy, we read, which could greatly benefit children with SMA. The drug (Zolgensma) was approved in America on the day Jayme was born. Not here yet.
It has been a struggle of months, Arwen says. Eventually, they raised the money themselves through crowdfunding. Jayme made big news, after which the Netherlands - under the spell of the deathly ill little guy - raised 2.2 million euros. On August 4, 2020 in Hungary, the very expensive drug Zolgensma was introduced through an infusion. An extraordinary sensation, according to Jayme's mother: 'Then in an hour you see 2 million dripping into your child's body.'
Fortunately, things are going well
Fortunately, Jayme is doing well now. 'He is still making developments. On his own level, though. It goes very slowly, but it is just very special that he is still there. The gene therapy has really helped. And I am finally getting to myself. Thanks to KinderThuisZorg who immediately when we returned from Budapest saw that we needed home care.
'We had known KinderThuisZorg since January 2020. Jayme had just had a tube placed and we received help at home to replace the tube and guide us with feeding. When one of the nurses found during one such placement that Jayme was having difficulty breathing, she referred us to the hospital. This was justified, as Jayme even ended up in the ICK of the Sophia. All that for a perfectly normal rhinovirus, but with his muscle disease SMA, such a normal virus can already be life-threatening.
'After two months of ICK, we came home with Jayme at the end of May. Unfortunately with a palliative course, because he was not doing well. We were then incredibly well supported by the nurses of the KinderThuisZorg.
Yet there are also occasional moments of rest
Text: Nicolline van der Spek
† Jayme is inmiddels overleden.
