On 15th April 25 we welcomed Little Louie, our second child into the world. It was a time of Great Joy, and excitement to give our Daughter Sophie a little brother.

After a short stay in hospital we could go home.

He completed our family, he was perfect.

However, at just 5 weeks old, he got cold symptoms and in the space of an hour, went from being perfectly fine to struggling to breathe. He was rushed to hospital and put on a ventilator on intensive care. It was possibly the most terrified we have ever been.

Louie was found to have parainfluenza. On day 3 he was extubated and plans were being made to go home, suddenly his lung collapsed leaving us all confused and in shock. The consultants became more concerned, and told us that they suspected Louie could have an underlining condition. They took genetic samples and sent them for testing.

On Sunday 8th June at 7 weeks old we received the devastating news that Louie had Spinal Muscular Atrophy Type 1, the most severe type. We were told that without treatment he would not live past the age of 2 and even with treatment his future is unknown as there is no cure. It’s the news all parents dread, there was a life threatening problem with our beautiful little baby. It was utterly devastating. Louie then spent 9 weeks in intensive care.

SMA is loss of a specific type of nerve cells called lower motor neurons, as the missing Gene produces a protein that they need to survive. These cells control muscle movement. Without these motor neurons, muscles don’t receive the nerve signals that make them move, this affects all muscles including those required to breathe and swallow.

Treatment involves Risdiplam, that is taken daily and replaces the missing protein. Success on this would lead to Zolgensma, a Revolutionary experimental Gene Therapy that implants a functional version of the missing Gene, so he can produce the Protein himself. He has excelled, surpassing all expectations and done amazingly well. We are so proud of him, and all our hopes for the future have been restored. He's such a fighter!

At £1.8 Million per treatment, Zolgensma is only given to those who show good promise. Louie received his treatment on September 30th, a date we will never forget and cherish. It gave our son, our family, a future.

However, it cannot repair any damage done to his motor neurones prior to treatment, so this damage is permanent. Therefore Louie’s future is unknown, he may always need breathing support and feeding tubes, it is likely he will never walk, he will never be able to chase his sister or run around with his friends. But he can have some quality of life, which is why we are here.

In order to give Louie the best chance at life we need to ask for help financially, while the NHS have been fantastic to Louie they just can’t provide the amount of support he needs. Private physio and hydrotherapy are needed to give him the best chance for the future, also specialist equipment so he can be more independent as he grows.

I have chose to leave my job in order to become his carer, so we have lost a full time income, we have always worked and never had to ask for help before. But we would be deeply thankful to anyone who can help. Every Pound raised will go on giving our beautiful son the help he will need.

Thankyou

Maria, Neil, Sophie & Louie