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.
