Welcome to our page,
Let me intrduce myself and our heartbreking story.
We're a simple, little family! My name is Hilda and my older son's dream came true when we could tell him that he will become a brother soon. Everything went well, overcoming obstacles, bigger and smaller, we were beyond pregnancy and by the 37th week, our second child was born. There were difficulties, but in the end, I was able to hold a wonderful baby in my arms when Noel was born on July 12, 2019.
Noel was 6 weeks old when my mother's heart was watching for strange signs! These were the first signs that something was 100% wrong with Noel! He didn't hold his head in the normal way, and then I noticed that he didn't hold any of his hands properly! I wanted to be sure, so I asked a Doctor, Dr. László Ritli, who has great authority in Oradea! I knew I would be in good hands if I approached him with my fears. The first diagnosis was immediate: Hypotonia - loose muscle. Even this news was shocking, and the doctor was immediately directing me to neurologist.
However, on October 22, the result I was able to view via an online platform was weighted down, with the news that Noel's test was positive for the genetic disease SMA-1. I collapsed, cried and desperate!
What is SMA-1? Let me write some information about it:
SMA Type 1 is the most severe form of SMA.
Each baby with SMA Type 1 is different. The symptoms of SMA Type 1 usually appear within the first few months of life. In some cases SMA can affect babies even before birth and mothers may remember that their baby had become less active towards the end of their pregnancy. Generally, the earlier the onset of symptoms, the more severe the condition. The most severely affected babies may die before, during, or very shortly after birth. This is sometimes referred to as SMA Type 0.
SMA Type 1 is a life-limiting condition. Though it is not possible to accurately predict, for the majority of children (approximately 95%) life expectancy is less than 18 months. In general babies diagnosed within the first few weeks or months of life have a significantly shorter life expectancy.
How is SMA Type 1 diagnosed?
If a doctor suspects SMA after taking a medical history and physically examining a baby, the diagnosis is confirmed by taking a blood sample for DNA testing. The blood sample is tested for a deletion in the survival motor neurone 1 (SMN1) gene on chromosome 5. The result of the test is usually available within 2 – 4 weeks.
Babies with SMA Type 1 are often described as ‘floppy’ babies, due to their low muscle tone (hypotonia) and severe muscle weakness. The muscle weakness affects movement, swallowing and breathing. Babies with SMA Type 1 are unable to lift their heads, have difficulty rolling over and are unable to sit unsupported. They may also have a weak cry.
The brain is unaffected and babies affected by SMA are often described as bright, alert and responsive. The muscles of the face are not usually affected so babies can smile and frown.
Weakness of the respiratory muscles can cause severe difficulties with breathing and coughing. It can also increase susceptibility torespiratory viruses and infections which can be life-threatening.
The muscles used for sucking and swallowing are also affected and this may cause difficulty with feeding and weight gain. Difficulty with swallowing can increase the risk of fluids, or food, passing into the lungs (aspiration) which can cause choking and, in some cases,pneumonia.
We are now very partialy happy because Noel had the chance to get the injection that helps keep this disease under control, the drugs name is: Spinraza. This drug is very expensive ($125,000 per injection which puts the treatment cost at US$750,000 in the first year and US$375,000 annually after that. According to The New York Times, this places nusinersens - Spinraza "among the most expensive drugs in the world".) ), but we received government support for the first 4 doses. Bad news that all SMA affected people have to get this medicine for the rest of their life, something that the state will certainly not be able to finance and neither will. Therefore, we immediately cast our vote for another solution to save the life of our child.There is another solution:Zolgensma, a new drug approved by the FDA, costs more than $2.1 million. It's made by AveXis, a drugmaker owned by pharmaceutical giant Novartis.Zolgensma treats all SMA types in newborns through toddlers up to age 2.
How Zolgensma works???
Zolgensma is a gene therapy designed to deliver a functional copy of the SMN1 gene to motor neurons in SMA patients.
Zolgensma comprises the shell of a genetically engineered virus, the adeno-associated virus (AAV) 9, called a capsid, which delivers a normal copy of the SMN1 gene to the target motor neurons. Once the SMN1 gene (called a transgene because it comes from an external source) reaches patients’ cells, it supplements those cells’ own production of SMN protein.
The SMN1 transgene in Zolgensma consists of double-stranded DNA, meaning that it takes the same form as natural genes and can be activated more quickly, producing faster, more efficient therapy. Zolgensma also includes the genetic instructions to activate the transgene so that SMN protein production is continuous and sustainable.
Not long ago, two children in the neighboring country raised money for this gene therapy. Even though we donated, we didn't even know we were going to have a similar life story.
So we set off on the road, and we also created our FB page, which you can find here:https://www.facebook.com/Noel.SMA1/
This page is in Hungarian, mainly because our mother tongue is Hungarian, but we established a page in Romanian language and soon we will have our english one aswell.
These two pages are our main advertising platforms.
We have created a Foundation in Hungary to make collection easier and more reliable.
Donations collected through PayPal and GoFundMe will also be transferred to this Foundation.
What will happen now ??? We are a simple family living in a small village in Bihor County, but we cannot say that there is no chance! Noel can be a Hero!Please help us, make our story known by sharing in social media, by sharing to your friends and family.
Every little steps gets us closer to give a new chance to our child to live.
wir sind eine einfache aber wunderbare Familie. Der Traum meines großen Sohnes ist wahr geworden, als ich ihm die Nachricht der Schwangerschaft verkündete. Wir hatten gerade eine harte, herausfordernde Lebensphase hinter uns.
Unser zweites Kind, Noel kam am 12. Juli 2019 mit einem Notfallkaiserschnitt auf die Welt. Ich habe damals noch geahnt, was das Schicksal mit uns vorhat. Mein Baby war sechs Wochen als, mein Mutterherz auf merkwürdige Zeichen aufmerksam geworden ist. Er konnte weder seinen Kopf, noch seine Hände halten. Schon bei der ersten Untersuchung wusste ich, dass es in unserem Leben ein neues Kapitel beginnt. Damals hieß es nur, unser Sohn hat einen schwachen Muskeltonus.
Wir gingen zur Physiotherapie und die half einigermaßen. Am 22. Oktober kam dann die erschütternde Nachricht, dass unser Sohn die heimtückische genetische Krankheit SMA 1 hat. Die Krankheit bedeutet, dass die Bewegungen ohne medizinische Behandlung sich gar nicht entwickeln können. Ich habe geweint, bin zusammengebrochen und war sehr verzweifelt. Was soll ich jetzt machen? Wir haben keine Chance, dachte ich noch damals.
Inzwischen habe ich es erfahren, dass es doch HOFFNUNG gibt. Das Medikament Spinraza kann die Krankheit positiv beeinflussen. Neben Physiotherapie sind auch Atemtherapie sowie orthopädische und Ernährungsberatung nötig.
Unser TRAUM ist es, Noel eine Gentherapie mit dem teuersten Medikament der Welt Zolgensma zu ermöglichen. Die Kosten: 2,3 Millionen Euro. Zweimal ist schon ein Wunder geschehen! Herzensgute Menschen haben diese unglaubliche Summe bereits für zwei ungarische Jungen gespendet. Ich möchte, dass Noel gesund wird.
BITTE lass uns das Unmögliche möglich machen! Zusammen können wir es schaffen.
Hilda Tímea Fodor