Luca was born on the 20 January 2022. He appeared to be a fit and healthy baby boy. A brother for his big sister Isabelle and a son to Kieran and Heather. A very much loved ray of sunshine with a smile that brightens up the darkest room. Luca passed all his health tests and every health professional he saw, confirmed he was a healthy happy baby. However, his parents started to express concerns about Luca to their health visitor. His head control was concerning as his head appeared very floppy. As he started to grow, he was not getting stronger and development milestones were not being met. Alarm bells started to ring. His head was dropping into his chest and his leg movements were minimal. His parents were told to give it more time and that not all babies develop at the same rate. Deep down his parents had a feeling something was not right . They kept insisting that Luca's slow development be re-evaluated. It seems nobody was taking their concerns seriously. Eventually on November 30 2022, following yet more blood tests and examinations, Luca was diagnosed with Spinal Muscular Atrophy Type 1. Nobody had heard of this or how serious a condition it is. The family were already stressed after the loss of a beautiful family member. No parent wants to hear that their child's life would possibly be a short one. Luca had to wait for a bed in Noah's Ark hospital in Cardiff for more tests. Such a stressful time for Luca and the family. What is SMA? SMA stands for Spinal Muscular Astropy. It is a rare, genetic neuromuscular condition characterised by muscle weakness and atrophy due to progressive loss of motor neurons. SMA is caused by a mutation/deletion of SMN1 (Survival Motor Neuron 1) gene. SMN1 gene is responsible to produce a protein called SMN (Survival Motor Neuron). With insufficient amount of SMN protein, the motor neurons start to die. SMA type 1 is the most common and severe form and without treatment, the life expectancy of babies with this type is around 2 years. It affects 1 in 10,000 babies and Luca is one of them. Most likely (we have not been tested yet) Luca has SMA1 because both his dad and myself are carriers of the faulty gene. Apparently, 1 in 40 people carries the genetic mutation that causes SMA and when 2 carriers have a child, there is 1 in 40 chance for the child to have SMA. The muscle weakness is present within the first few months of life and babies with SMA type 1 can have difficulties holding their head up, cannot sit unassisted, may have swallowing problems that can lead to difficulty feeding and poor growth. They can have breathing problems due to weakness of respiratory muscles and an abnormally bell-shaped chest that prevents the lungs from fully expanding. SMA1 if caught before Symptoms present, can be treated but not cured. In recent years treatments (3 available so far) have been developed. Luca will always have SMA1, but the treatments can slow down the progression of his condition and help him get some movement, improve muscle tone to help his breath, talk and swallow. Treatments are still considered as in their infancy and as it stands, it is not known how long they will work and what are the long term effects. Trials are happening all the time and new treatments are in research stages. Luca’s treatment journey When Luca was diagnosed, the aim was to receive gene therapy (Zolgensma) which is a one-time injection giving Luca the missing gene. At the moment it is the most expensive drug in the world (£ 2.2 million) and the family felt really grateful for living in a country where it is funded by NHS. Luca was supposed to have his infusion of Zolgensma (gene therapy)in December 2022 but he was not well enough so it was rescheduled to March 2023 subject to him meeting all the criterea. Sadly the gene therapy has been put on hold following adverse reactions experienced by a young girl. Whilst an investigation is taking place, Luca is receiving Risdiplam. This is taken orally and works with the SMN2 back up gene to produce more of the protein needed to support muscle function. Luca uses a BiPAP (non-invasive ventilator used overnight), cough assist, suction machine and his parents and family have been trained up on using this. Luca is fed through an NG tube. Luca has just turned One. For such a short life, he has faced far more that most of us do in a lifetime. He has been very ill and at one point, the family thought he was going to lose his battle. The staff at Noah's Ark saved his life for which are the family are all extremely grateful. No matter what he's gone through his cheeky grin remains and gives his parents the strength to carry on. Luca spent his first Christmas and birthday in hospital. Luca is currently at home. His mum is his primary carer taking care of all his immediate needs. The NHS are there to support Luca and his family but it will not fund all the equipment and complimentary treatment he needs. The family have reluctantly set up this page to try and raise funds for Luca. The money raised will help to buy equipment, physiotherapy, hydrotherapy to help strengthen Luca's muscles and help with his head control and give him more movement. No matter how small the donation, the family are extremely grateful for any amount you afford to help this rather special and priceless little boy.