Indsamling
Kvalificeret lægehjælp til Viktor
Danmarks eneste patient med sygdommen NGLY deficiency er inviteret til konference og undersøgelse i San Francisco

English text below

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KORT BESKRIVELSE

Mine dejlige sønner Bertram og Viktor er blandt blot 43 på verdensplan i alderen 1 til 24 år, der lider af den hyper-sjældne degenerative og ultimativt dødelige gensygdom NGLY1 deficiency. (læs mere på NGLY1.org og GraceScience.org)

For snart et år siden måtte Bertram desværre opgive kampen mod sygdommen, men takket være ham fandt vi den rette diagnose for storebror, Viktor, som indtil da havde været mangelfuldt/fejl-diagnosticeret.

...og nu har Bertram mulighed for indirekte at hjælpe sin storebror på ny.

Viktor er blevet inviteret til en konference på Stanford Universitet i Palo Alto, San Francisco. I forbindelse med konferencen, som giver os mulighed for at møde andre patienter, læger, forskere, behandlere m.fl., vil Viktor desuden få taget stamcelleprøver. Prøver som dels skal bruges til den videre forskning og dels til at give Viktor et konkret, brugbart feedback ud fra den pt tilgængelige viden.

Arrangementet løber af staben i slutningen af Juli måned 2017, så vi skal ret hurtigt kunne melde tilbage til arrangørerne om vi kommer eller ej. Umiddelbart er det jo et tilbud, vi ikke kan sige nej til, men omvendt er det også svært/umuligt ved at sige ja til, fordi det er en både besværlig og omkostningsfuld tur.  

NGLY1 gensygdommen indebærer, at Viktor er svært fysisk handicappet og desuden mentalt retarderet. Ift det fysiske kan han hverken tale, stå eller gå. Hertil har han mere end 65% scoliose (skæv ryg), hvilket betyder at han ikke kan sidde i et normalt flysæde i de 11 timer, rejsen tager. Han er desuden meget sansesart særligt overfor lyd, og skal derfor helst kunne skærmes lidt af, når han bliver overstimuleret.

Dette giver udfordringer ift stort set alle dele af turen, flyrejsen, transport til/fra hotel/lufthavn, hotelfaciliteter, etc.

Indsamlingen skal derfor bruges til dække de fornødne omkostninger forbundet med turen.

INDSAMLINGSMÅL

Vores økonomiske indsamlingsbehov ligger et sted imellem DKK 50.000 og DKK 175.000. Målet er derfor sat til DKK 175.000 (reduceret til DKK 100.000, red.), men rejsen kan sagtens ende med at blive en realitet ved et mindre realiseret indsamlingsbeløb.

Baseret på listepriser løber de samlede omkostningerne til turen op i ca. DKK 175.000. Vi håber/forventer dog, at der er godhjertede sjæle, der ligesom dig, der donerer til indsamlingen, vil gøres deres til at hjælpe os med at få rejsen til at lykkes.

Derfor håber vi også, at indsamlingen vil ende med at give et overskud. Skulle dette ske vil det overskydende beløb gå ubeskåret til Grace Science Foundation.

Det samme vil gælde, såfremt indsamlingsbeløbet skulle vise sig utilstrækkeligt, eller at rejsen af anden årsag ikke bliver til noget.

Grace Science Foundation er stiftet og drevet af et forældrepar til en af de 41 øvrige NGLY1 deficiency patienter - en pige der hedder Grace. Fonden arbejder målrettet efter at finde en kur, og har på få år formået at opbygge et netværk mellem patienter, læger, behandlere, forskere og andre fagfolk, der muliggør målrettet forskning og udveksling af erfaringer. (læs mere på https://GraceScience.org)

HVILKEN FORSKEL GØR DET?

Ulempen ved at have et barn med så hyper-sjælden en sygdom er, at adgangen til hjælp fra fagfolk med indsigt er yderst begrænset. Der er således ikke andre patienter i Norden med NGLY1 deficiency, og dermed hverken incitament eller ressourcer til rådighed i det danske sundhedsvæsen til at opbygge og udbygge tilstrækkelig viden om sygdommen.

Konferencen vil således give os mulighed for at etablere en direkte kontakt til de læger og forskere, der ved mest om sygdommen på verdensplan. Hertil vil tilbuddet om at fået taget stamcelleprøver betyde, at Viktor direkte kan bidrage til den videre forskning og desuden selv få et mere kvalitativt feedback end det danske sundhedsvæsen kan tilbyde.

DONER OG/ELLER DEL BUDSKABET

Hjælp os sprede kendskabet til denne indsamling ved at dele linket blandt alle du kender, hvad enten det er familie, venner og/eller arbejdskollegaer. Brug gerne alle kommunikationsveje du kan komme i tanke om - Facebook, Twitter, Linkedin, Instagram, SnapChat, email, mund-til-mund, whatever... al hjælp er velkommen :-)

PS

Indsamlingen er formelt anmeldt til Indsamlingsnævnet under overskriften "Indsamling til Viktor".


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ENGLISH VERSION:


BACKGROUND

My lovely sons Bertram and Viktor are among only 43 in the world who suffer from the ultra rare degenerative and ultimately lethal genetic disease NGLY1 deficiency. (Read more at NGLY1.org and GraceScience.org)

They received their diagnosis after three years of bewilderment as to what was ailing Bertram. NGLY1 deficiency, an extremely rare disease only recently discovered, making Bertram and his brother, Viktor, the only two known cases in Denmark, and members of a globally small exclusive group.

Getting a diagnosis induces hope. All of the sudden you know what you are dealing with - even if the answers are few. In our case that hope was ripped away before it even took hold in us. On May 30th, 2016 - only three months after getting his diagnose - Bertram passed away. As if that had been his life's mission - to let us know what his brother was suffering from - he gave in to the struggle he had endured for so long.

Thanks to Bertram we found the right diagnosis for his big brother, Viktor, who until then had been inadequately/mis- diagnosed. 

... and now Bertram has the opportunity to indirectly help his big brother again.

PURPOSE OF THE COLLECTION

Viktor has been invited to a conference at Stanford University in Palo Alto, San Francisco. In connection with the conference, which allows us to meet other patients, doctors, researchers, therapists, etc., Viktor is also given the opportunity to provide stem cell samples. Samples to be used for further research and to give Viktor a concrete, useful feedback based on currently available knowledge on NGLY1 defieciency.

The event is scheduled for the end of July 2017, and the deadline for signup is soon although not fixed or set in stone. In any case, we need to report back to the organizers to let them know whether we will be coming or not. At face value this is obviously an offer we cannot pass up on. However, we may need to as it is also a both difficult and costly trip.

A consequence of the NGLY1 deficiency is that Viktor is both physically disabled and mentally retarded. Physically he cannot speak, stand or walk. Furthermore, he is restricted by more than 65% scoliosis (crooked back), which means he cannot sit in a normal flight seat for the 11 hours the flight takes. In addition, he is very sensitive to sound, and therefore require as much shielding as possible when he gets over-stimulated.

This poses challenges for virtually all parts of the trip, the flight, transportation to/from hotel/airport, hotel facilities, etc.

The donations will therefore be used to cover the necessary costs associated with the trip.

DONATION

We have set a goal for the collection, which is most likely higher than necessary. Based on list prices, the total cost of the trip will amount to approx. DKK 175,000 (edit: reduced to DKK 100,000). However, we hope and anticipate, that kindhearted souls will help us bring down the various costs to help us realize the journey.

In other words, we hope the collection will reach our goal while our costs are reduced. This will give us a profit that allows us sponsor the Grace Science Foundation, a foundation dedicated to finding a cure for NGLY1 deficiency.

WHAT DIFFERENCE DOES IT MAKE?

The disadvantage of having a child with a very rare disease is that access to professionals with insight is extremely limited. In Viktor’s case, there are no other NGLY1 deficiency patients in Scandinavia and only a few in Europe, thus reducing the incentives to dedicate resources to the disease within the Danish health care system.

The conference will allow us to establish direct contact with the doctors and researchers who at a global scale are the most knowledgeable regarding NGLY1 deficiency. In addition, the opportunity to provide stem cell samples means that Viktor can directly contribute to further research and, in addition, get a more qualitative feedback than what the Danish health care system can provide.

DONATE AND/OR SHARE THE MESSAGE

Help us spread the knowledge about this collection by sharing the link among everyone you know, whether it's family, friends, colleagues, etc. Use all channels - Facebook, Twitter, Linkedin, Instagram, SnapChat, Email, word-of-mouth, whatever ... all help is welcome :-)

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EDIT:

  • 25-06-2017: Vi har bestilt flybilletterne for lånte penge, men mangler stadig at indsamle en del for at dække øvrige udgifter (og for ikke at hænge på en stor efterregning). For at få de indsamlede penge udbetalt inden rejsen skal indsamlingen lukkes senest d. 9. juli, så hjælp os med at sætte en slutspurt ind. Del f.eks. den video, vi har tilføjet. // We have borrowed the money necessary to book the trip video. However, we are still a bit away from covering all expenses, so in order to avoid us getting stuck with debt, please help us boost the collection, e.g. by sharing the video, we've just uploaded to youtube. 
  • 10-05-2017: English version been added below
  • 16-05-2017: Indsamlingsmålet er reduceret til DKK 100.000 da flere udgiftsposter har vist sig at kunne holdes væsentligt under det listeprisniveau, vi tog udgangspunkt i. En stor tak til de gavmilde og generøse parter, der har hjulpet på den front - ingen nævnt, ingen glemt. // The goal of the collection has been reduced to DKK 100,000 as several of our expenses have turned out lower than the list prices we based our budget on. A big thanks to those who have help us reign in the expenses.

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