Team Herman - The Quest for a Cure for STXBP1 Disorders - hjelp oss å finne en behandling for STXBP1

$1,336.44

Raised

Donations

$5,000

Goal

Vår sønn Herman har en veldig sjelden genetisk mutasjon. Vi fikk diagnosen i april 2021 etter lang tids utredning og mange opp og nedturer, mest det siste! Diagnosen er så sjelden, at den ikke engang har et navn, den hedder bare navnet på genet – STXBP1. Vi har alle rundt 10 mutasjoner forskjellig steder i vårt DNA, men for de aller fleste så sitter mutasjonene steder uten noen betydning for vårt liv. Sånn er det ikke for Herman, STXBP1 er et essensielt protein i hjernens kommunikasjon, og når det ene gen ikke produserer STXBP1 så har det store konsekvenser! Med hard trening og hjelp fra en fantastisk fysioterapeut klarer Herman nå å sette seg opp, krabbe hoppe kanin hopp og reise seg samt gå ved møbler. Herman er nå 2 ½ år gammel. Herman er en livsglad liten gutt som står på, og tar det meste med et smil. Herman elsker musikk, å huske og leke med ball. Han er kjærlig og tar alle sjanser han får til å vise dem han er glad i sitt smittende smil, gjerne ledsaget av kyss.  


Herman startet sitt liv litt brått 4 uker tidlig med akutt keisersnitt, men tilsynelatende var alt ok, Herman la på seg og var en helt normal liten baby. Ti uker gammel fikk Herman rare rykninger i ansiktet, vi ble innlagt med en gang fra legevakten. I fire dager undersøkte legene vår lille baby, vi var så redde, tanken om hva de kunne finne i hjernen hans var nesten uutholdelig. Heldigvis fant de ingenting annet en lav B12 vitamin, som han da fikk i sprøyte. Men anfallene kom tilbake dog langt færre enn sist, Herman fikk flere EEG som alle var normale og legene skjønte ikke helt, forsto vi ganske raskt. B12 vitamin hjalp på anfallene og da han fikk en depotsprøyte som 6 mnd. gammel stoppet anfallene helt. MEN Herman nådde ikke milepælene sine og han blev henvist til barneavdelingen igjen. Etter nesten et år med utredning fant de mutasjonen på STXBP1 genet. Det var mye verre enn vi hadde fryktet og sorgen var stor, og det er den fortsatt. Bare halvparten av STXBP1 barn kommer til å gå uten assistanse, færre kommer til å snakke og alle har psykisk utviklingshemning som regel moderat til svær. Mellom 85-95% utvikler epilepsi i løpet av livet, de fleste som spedbarn, men andre i løpet av barndommen og ungdommen. Dette er de harde fakta som fikk vår verden til å synke i grus. 


Det er ingen behandling til Herman sin tilstand, og siden det er en veldig sjelden tilstand så er det heller ikke stort engasjement eller kunnskap her i Norge. Heldigvis har vi funnet et internasjonalt nettverk, som både støtter og har overblikk over forskning på området. Og det er håp! Det er faktisk håp om at det snart kan være genetisk behandling som er klar til kliniske forsøk, men dette er ikke uten omkostninger og her trenger Herman og alle de andre barn med STXBP1 din hjelp! Forskningen er helt avhengig av midler fra foreldreorganisasjonen til STXBP1. Al støtte går direkte til forskning via STXBP1 Foundation. 


Vi håper dette har rørt deg og du har lyst til å hjelpe oss på vår viktige misjon med å få behandling til barn med STXBP1. Vårt største ønske er å få en behandling som virker og få denne forferdelige diagnose på spedbarn screeningen så ingen andre skal gå igjennom det vi har gjort!  


Hermans story 


Really the story begins with a 12-week scan to check for chromosome defects. We have bad experiences in the past here. Getting the all clear was filled with tears but it was happy tears this time. The rest of the pregnancy went without problems and Herman was born in april 2019. All seemed good, he put on weight as he should, and we were a happy family. This all changed just before he was 10 weeks old, he started eating less and sleeping more. We remember very clearly the day we went to the emergency and was immediately hospitalized. Herman had epilepsy suspect seizures. He underwent all imaginable tests, and his little body was tubed up. We have never been this scared of losing him, not knowing what they would find in his brain, it was horrible to wait for answers. All they found was luckily vitamin B12 deficiency and again for a short while we were a happy family. But the seizures came back, and he had more vitamin B12 injections, his little body again being put needles into. After 4 months of not knowing and in and out of hospital, the doctors meant he was cured. Again, a moment of happy family now with trauma behind us. But Herman didn’t reach his developmental milestones and a new round of examinations began. This time again we were scared. The doctors looked at Herman and we felt their thoughts were worst case, but they didn’t say anything. We went home depressed and scared for the wellbeing of our little sweetheart. Finally, after many months almost a year they found a mutation on a gene coding for STXBP1. Our world crumbled in a second, all our hopes for Herman to catch up with his peers came crushing down. 


STXBP1 is a very rare genetic caused neurodevelopmental disorder. Herman’s doctor has never known a patient with STXBP1 before and there are only 7 here in Norway and about 750 known cases worldwide. We were told Herman will probably need professional help his whole life, we were also told there is no cure to Herman’s condition. He might develop epilepsy, between 85-95% have epilepsy. Sometimes the epilepsy can be treated sometimes no medicine will help. All have intellectual disability in some degree most from moderate to severe. These are the hard facts we are facing every day and on top of that no one knows, how Herman will develop. The uncertainty is devastating and the only thing that gives us hope is research. We will not stop fighting for a cure! We will not stop believing in a cure! 


Herman is a little hero he must fight a hundred times compared to a typical developed child. Herman must fight for the things most of us take for granted, and what just comes naturally to typical developed children. What is the most amazing is that he does this with a smile and good humour. Herman has therapies about 4 times a week and he must do exercises from physiotherapy 2-3 times a day. Herman could sit up on his own when he was 18 months, he took his first crawling steps just around Christmas 2020, crawled “bunny-hopped” by 2 years of age. He started standing up by the sofa and other furniture 19 months old, he is now almost 2 ½ years old and we hope he will walk by 3. He can walk assisted and loves it, there is no doubt in our minds that his biggest wish right now is to walk and run along with the other kids in nursery. Herman is so far non-verbal, but he communicates loads. Our biggest wish is that Herman will one day be able to say, “mummy I love you”, “daddy I love you” that he will be able to live something close to a normal life, have friends, go to school, have a job, fall in love and be able to express his needs and feelings. 


Please help us achieve this goal! 

We hugely appreciate any donation to help finding a cure for Herman and all other kids with this terrible disease

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        Donor Wall5

        james | $703/OT

        John Petter | $100/OT

        Julegave fra Herman's danske familie

        Stephanie | $100/OT

        All my love xx

        Alex Daniels | $50/OT

        Petter Korsmo Ottesen | $100/OT