WHO AM I ?

Hello my name is Theo. I am the sweetest and happiest little man and will melt your heart with my smiles. I am 4 and a half months old. I’m very content and love when people come and visit me and my parents in the house and I can listen, hear and watch everything that is going on with my beautiful eyes. I love it when daddy comes and plays with me by moving my little arms and doing bicycle exercises with my legs. And of course I love my mommy! I don’t move too well but I am very alert and love company and visitors.

WHAT DO I HAVE ?

It turns out I am missing a very important gene called SMN-1. This gene acts to produce a protein to help the important cells communicate from my brain to my muscles and make them go. If I don’t have this gene these important cells die. At 1 month I was moving more than I was at 2 months. It was hard to find out why I was very floppy and the doctors called this hypotonia. At 16 weeks old I was diagnosed with SMA type 1. I have a very severe type as I only have 2 backup SMN-2 genes. Luckily I was able to start treatment on a muscle treatment called Spinraza which works on my backup genes and will help me move a bit more. However I will have to take each day at a time as I will never move like other babies and will have feeding and breathing difficulties. A few years ago without any treatment things would would not be very good for me and I would only have a short time left with my family.

OTHER TREATMENT OPTIONS?

My family are trying to get me a treatment called Zolgensma which will give me the SMN-1 gene I am missing. However it is not available in Ireland yet and approval for me in France is on a case by case basis. My family will know more about this treatment soon and I can’t wait to share the great news when I learn more as this will make me even more strong a great deal, even more than than the treatment I am currently receiving called Spinraza. This is because Zolgensma acts in a more systemic nature throughout the whole central nervous system and also other parts like the liver, heart and lungs. It is my parents goal that I need this treatment but currently we are waiting for news for access in France or Ireland.

WHAT CAN YOU DO TO SUPPORT ME ?

I promise that I am going to do my very best and hopefully I have received the fighter genes from my parents. I still need some support no matter how small to help me on my journey. My parents will be setting up a fundraiser but first we will need to know if I will have access to Zolgensma or not. Hopefully, if I get my gene therapy treatment we will stil raise some funds to give me the best chance in life and see specialist doctors and physios and for savings for further threatments, making my home compatible for my needs and funding for any long stays I will have in hospital.

Any positive news or best wishes you have will also be much appreciated as our family need all the support available to help me along my journey.

Thank you !!