Together for Little Ayah

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VORES HISTORIE

Dette er Ayah (født den 15.01.20), en sprudlende lille prinsesse som altid er i godt humør. Ayah lider af en sjælden genetisk degenerativ lidelse kaldet SMA (Spinal Muskelatrofi) type 2.
 
SMA er en genetisk sygdom som påvirker det centrale nervesystem, skeletmuskulaturens frivillige bevægelse samt det perifere nervesystem (forbindelsen mellem centralnervesystemet og den øvrige del af kroppen). Som et resultat af dette fører det til  gradvist nedsættelse af grundlæggende motoriske funktioner, så muskler gradvist mister styrke og påvirker evnen til at synke, stå, gå og trække vejret. 

SMA påvirker en ud af 10.000 levende fødsler og kan ikke kureres. Imidlertid får patienter behandlingsmuligheder for at forhindre yderligere progression, da enhver skade, der er forårsaget af sygdommen, er irreversibel.

Ayah udviklede sig som ethvert normalt barn efter alder og opnåede passende de fleste milepæle. Efter 10 måneder blev Ayah diagnosticeret med SMA gennem genetisk test, efter at vi havde stillet spørgsmålstegn ved hendes pludselige tilbagegang af opnåede udviklingsmilepæle og minimal brug af hendes ben.

Siden diagnosen har Ayah fået tildelt behandlingen Spinraza, et receptpligtigt lægemiddel, der gives som en rygmarvsinjektion løbende gennem en patients liv. Spinraza øger SMN2-genets (som er en kopi af SMN1-genet) evne til at producere SMN-protein, hvilket derved forbedrer motoriske funktioner og overlevelse. Før dette havde vi aldrig hørt om denne sygdom.

Zolgensma er en ny engangsbehandling med genterapi til børn under 2 år. Den erstatter det manglende SMN1-gen med en ny kopi, der hjælper motor neuron celler med at fungere ordentligt og overleve. Den fungerer ved at erstatte det manglende eller defekte gen og derved give kroppen SMN-protein. Zolgensma kurerer ikke skader der allerede er forårsaget af SMA før behandling (døde neuronceller). Men med understøttende  fysioterapi  og genoptræning, har det vist langt de bedste resultater i lignende tilfælde som ligner Ayah´s.  
Genterapien er i øjeblikket det dyreste lægemiddel i verden med en pris på 2,1 millioner dollars.

Vi er heldige og taknemmelige overfor det danske sundhedsvæsen for at give Ayah Spinraza. Men som forældre kan vi ikke overlade godkendelsen af genterapi i Danmark til tilfældighederne og håbe, at den vil være klar før Ayah fylder 2 år. Som enhver forælder ønsker vi det bedste for vores børn, men endnu mere med hensyn til deres helbred.

VORES MÅL
Målet er at skaffe tilstrækkelige midler (15 millioner DKK) til at dække udgifterne til genterapi-behandlingen (Zolgensma) og yderligere udgifter såsom rejser, konsultationsgebyr og indkvartering under hendes behandling i udlandet. Ved at give Ayah denne behandling håber vi at give hende en næsten normal barndom, hvor hun uden de store forhindringer kan lege på lige fod med sin storesøster. Behandlingen har dog en aldersgrænse, da den i øjeblikket kun er godkendt til børn under 2 år. Vi er derfor under tidspres for at nå vores mål!

Vi vil gerne invitere dig/jer til, at hjælpe Ayah´s familie, venner og netværk med, at skabe opmærksomhed omkring denne indsamling ved at sende os positive tanker, bidrage økonomisk og/eller dele denne invitation med flere netværk så vi når så mange hjælpsomme sjæle som muligt. Hvert eneste bidrag betyder alverden. På forhånd tak!


BACKGROUND

This is Ayah (born on 15.01.20), a bubbly little princess who likes to smile a lot. Ayah has a rare genetic and degenerative disorder called SMA (Spinal Muscular Atrophy) type 2.

SMA is a rare genetic disease that affects the central nervous system, voluntary skeletal muscle movement, and the peripheral nervous system (the connection between the central nervous system and the rest of the body). As a result, SMA affects basic motor functions such as walking, hand movements and  feeding. After  progression, the patients lose the ability to swallow, breathe and eventually die.  

SMA affects one in 10,000 live births and cannot be cured. However, today patients are given treatment options to prevent further progression, as any damage caused by the disease is irreversible.

Ayah developed like a normal child by age and achieved the appropriate milestones. After 10 months, Ayah was diagnosed with SMA through genetic testing after we questioned her sudden regress of achieved developmental milestones and minimal use of her legs. Prior to this, we had never heard of SMA.

Since the diagnosis, Ayah has been put on Spinraza, a prescription drug administered as a spinal injection throughout a patient’s life. Spinraza increases the ability of the SMN2 gene (which is a back up of the SMN1 gene-the one that Ayah is missing) to produce SMN protein which in turn improves motor functions and survival.

Zolgensma is a new one time gene therapy treatment for kids under the age of 2. It REPLACES the missing SMN1 gene with a new, working copy that helps motor neuron cells work properly and survive but it’s currently the most expensive drug in the world at $2.1 million. It is NOT a cure since it does not reverse damage already caused by SMA before treatment. However, with supportive therapy, it has by far shown the best results. It is recommended that the earlier the patient receives the treatment,the better.

We are fortunate and grateful to the Danish healthcare system for giving Ayah Spinraza. However as parents, we cannot leave the approval of gene therapy in Denmark to chance and hope that, it will be ready before Ayah turns 2 years old. As any parent, we wish the best for our child, but even more so in regards to her health. Besides Zolgensma only having to be administered once, it has proven to be the most effective in clinical testing.

OUR GOAL

The goal is to raise enough funds (15 million DKK)to cover the costs of the gene-therapy treatment (Zolgensma) and additional expenses like travel, consultation fee and accomodation during her treatment abroad.  By giving Ayah this treatment, we hope to give her an almost normal childhood where she will be able to play with her big sister without any major obstacle. We are in a race against time to achieve our goal since this treatment is currently only approved for children under 2 years old.

We would like to invite you to help Ayah's family, friends and network create awareness around this fundraising by sending us your prayers, positive thoughts, contribute financially and/or share this invitation with more networks so that we may reach as many helpful souls as possible. Every single contribution means the world to us. Thank You!

please follow Ayah´s journey on :


facebook: Little Ayah
Instagram: @little.ayah


REFERENCE:www.curesma.org 







 

 

  

  
  • Anonymous 
    • kr250 
    • 1 d
  • Mercy Chepngeno  
    • kr100 
    • 1 d
  • Anonymous 
    • kr25 
    • 3 d
  • Anonymous 
    • kr200 
    • 3 d
  • Anonymous 
    • kr200 
    • 3 d
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Fundraising team: #Togetherforlittleayah (6)

Kathure Mithika 
Organizer
Raised kr41,476 from 148 donations
Ronne
Judy Wanjiku Jørgensen 
Team member
Raised kr9,360 from 21 donations
Frank Lundt 
Team member
Raised kr6,475 from 16 donations
Victoria Hamunyela 
Team member
Raised kr3,460 from 10 donations
Phyllis Nyaguthii Wangui 
Team member
Raised kr2,445 from 6 donations
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