Theo in the Kerrys Eye Update

Hey, I know been a while since an update on Theo.

After his treatment we caught this beautiful picture in December 2021 and we were home in time for Santa.

Kerrys Eye photo

Wait for it … Theo is now approaching 15 months old.

He received Zolgensma at almost 8 months and the progress he has made is remarkable, benefited also by his strong determination, strength and courage.

And his first time at KFest Killorglin 2022.

He’s also flat out studying on the Kerry Galway final !

Check out his instagram

Theo’s Zolgensma Day

A small update to share some good news

Monsieur Theo Frank received his gene therapy on the 8th of December 2021.🧬

We are so grateful that he received his therapy and extremely thankful to the neurology team that helped make it happen for him in 2021.

He has had so many amazing doctors, physios and occupational therapists that helped him recover the last couple of months. Thankfully Theo surprised everyone and recovered faster than many of the doctors had expected.

Thanks everyone for all the support, we will be home just in time for Christmas this year which will be amazing for him to experience leaving the hospital after 3 months and everything will be new and amazing for him. I’m certain he will be spoilt every year but what an amazing Christmas present for him to be able to bring him home again.

Theo before about 30 minutes before reciving his gene therapy

Theo’s Story


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.


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.


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.


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 !!

Preclinical screening for SMA in Ireland

This is part of the draft of Theo’s story and why SMA should be screened for in newborns in Ireland

What difference would it have made to you to have an early diagnosis ?

Our son Theo was born on 29th April 2021, and diagnosed on the 19th of August 2021 with SMA type 1 with 2 SMN2 copies. He was nearly 4 months old by the time he was diagnosed and quite obviously symptomatic at this stage when lots of nerve damage had already been caused.

His development was normal at birth and we brought him to all the physician appointments and nothing was picked up by doctors or physios. We noticed he did not move as much probably between 2 and 3 months, at first there was not much said by doctors, however when he was 3 months he had obvious hypotonia, which was recognized then by the doctors that saw him. The general hospital sent away for metabolic screening and microarray genetic tests that did not cover SMA. We contacted SMA Ireland and got in touch with temple street to undergo an assessment and they sent away for the genetic test for SMA to Germany.

If Theo received an early diagnosis his prognosis for his life would be much better as he would have received therapies to help with the production of survival motor neuron (SMN) protein which would have helped his nerve cells he has unfortunately lost to survive. If the diagnosis was made and he received Spinraza even weeks earlier he might not have lost his ability to swallow. His current prognosis is 100% nasogastric tube fed, BiPaP ventilation at night and during naps, regular chest physio and secretion management (without which he is at risk of choking as he does not swallow strength to manage his own secretions). He will require 7 nights a week home care management to prevent the risks associated with him not being able to handle secretions and to ensure his safety.

The more severe phenotype of SMA type 1 would have been halted and likely prevented with an early diagnosis, as evidenced by the SP1NT trial for Zolgensma and the NURTURE trial for Spinraza.

Thinking about the treatment available now, how helpful is early diagnosis ?

Gene replacement therapy for SMN1 in the form of Zolgensma and SMN2 directed therapy in the form of Spinraza have changed the landscape for SMA patients. Early treatment can prevent severe loss of motor neurons which affect all organs in the body. In Theo’s case if he was treated weeks or months earlier his prognosis would be completely different. If he was screened at birth he might someday stand and walk on his own and would likely not suffer from the necessity of non-invasive ventilation while sleeping and NG feeds.
His life would be changed with an early diagnosis as many of his functions would be preserved by the leading genetic therapies that are available now. It is likely he will regain some function now that he has received treatment, albeit months after symptoms presented. If treatment is administered with the help of an earlier diagnosis the prognosis for SMA children is completely different and won’t require the same level of 24 hours care that a symptomatic and treated child will need.

How strongly do you think every baby should be screened for SMA?

As this is a severe rare disease that has treatment available that can make a huge difference in terms of event free survival, including not requiring permanent ventilation or death, it is imperative to provide early diagnosis so treatment could be administered straight away. Time is of the essence with this disease as the earlier the treatment is administered inversely correlates with disease symptoms.

In Theo’s case he has already had to fight some severe symptoms of the disease and long hospital stays already at 7 months of age (3-4 months in hosptial this year). With early diagnosis and treatment he would be much stronger today and not have all the symptoms he has of this disease. He would have a better prognosis for an independent childhood, whereas now his childhood will always require a carer or parent nearby at all times.

Every infant born should be screened for SMA, it is very likely that there are some infants each year that die without a diagnosis of SMA as with severe forms of the disease the child can have problems breathing and swallowing as early as months into their lives. With early diagnosis and screening before the child is symptomatic they can expect a near normal quality of life. With later diagnosis and no screening is it all about luck if you are able to find a diagnosis in time for the child before irreperable damage has occured. I believe there is a still a lot of awareness that needs to be raised for SMA in Ireland and unfortunately in rural Ireland it is not something that is diagnosed easily.