Help Luca - SMA Type 1

Hello,

I am Madalina and together with Robert we established this page to raise funds for our son Luca diagnosed with SMA type 1 at 3 months old.

Luca’s story

We had only one wish as a new family - to have a healthy baby. After an unexpected miscarriage, we had hopes again when I got pregnant with Luca. We treasured every moment since Luca’s birth and felt so lucky to have him. We felt complete as a family! We had no idea that our lives will change dramatically after just 3 months.

Although Luca passed all his health tests and every health professional confirmed he was a healthy, happy baby, I started to express my worries about Luca since he was just 4 weeks old. He did not tolerate tummy time, his head control was not great, he did not get stronger as he was growing, his legs movements were minimal. I was told to give him more time, that I am always trying to find a problem where is not… Well, deep inside me I knew something is not right so I insisted for Luca to be seen again and again. Finally, at 12 weeks old, the GP who saw Luca referred us straight away to paediatrician as she was concerned about him being floppy and his belly breathing. On that day, Luca was seen by 4 paediatricians and the words I had to hear were “there is a big problem”, “muscle disease”, “he is still your baby”, “breathing and feeding problems”, “gene therapy”… but we did not receive a diagnosis. After a night being observed, we were sent home as Luca did not show breathing difficulties and he was still breastfeeding. We had to wait 2 weeks to receive the diagnosis, 2 weeks of reading, researching about the genetic condition we thought the doctors were talking about. On 4th of March 2022, I received a phone call and I knew we won’t receive good news. I asked straight away – Does Luca have SMA? The doctor said yes, this is what the results confirmed – that our baby has Spinal Muscular Atrophy Type 1. Since that day our life is different, there is a deep wound in our hearts that will never heal completely, but we have to keep going and help Luca having a comfortable and happy life.

Spinal Muscular Atrophy

Spinal Muscular Atrophy 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 SMA 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.

Luckily, in recent years treatments (3 available so far) have been developed. These treatments are not a cure! Luca will always have SMA, but the treatments can stop the progression of his condition and help him get stronger overtime with a lot of hard work (physiotherapy).

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 (£ 1.79 million) and we felt really grateful for living in a country where it is funded by NHS. However, not even this step was straight forward for us. Along the process, it was discovered that Luca’s liver enzymes are slightly above the normal range so the treatment was postponed because it could have put him at higher risk as one of the side effects of Zolgensma can be increased liver enzymes. A whole investigation started to find out why Luca’s liver enzymes are increased. This meant some more weeks for Luca with no treatment. Finally, at 4 months old, Luca started to take the oral treatment (28th of March 2022) Risdiplam (Evrysdi) which helps the SMN2 gene, the back-up gene to produce more SMN protein in order to keep the unaffected motor neurons functioning.

Due to his condition, it was always difficult to take bloods from him. On 31st of March 2022 when we went for his weekly blood tests required to monitor his liver enzymes and other investigations, we had to live the scariest moments of our lives. After trying to take bloods for an hour, Luca was exhausted at the end and he choked with his own saliva when the nurse picked him up to give him a cuddle. I had to see my baby changing colour and then in few seconds the room was full of doctors, nurses trying to bring Luca back to life. There were 4 minutes when Luca did not breathe and CPR was needed. I called his dad who was waiting outside and we were both there terrified, could not do anything for our baby, just pray and trust that with the help of the doctors Luca will recover. He did! He came back and slowly he started to recover.

We stayed in hospital for 43 days! During these days we were told that Luca might not make it, we had to adjust to the feeding via ng tube (a heart-breaking experience for me as a mum not being able to breastfeed Luca as I did before that horrible incident), we had to see Luca very weak and not being able to swallow his secretions, we had to learn how to use new equipment that help him – BiPAP (non-invasive ventilator used overnight), cough assist, suction machine.

He required a surgery to insert a Hickman line for an easy vascular access to avoid incidents like the one from 31st of March. This was another stressful day as due to his condition, doctors could not guarantee if and when Luca can be extubated after general anaesthesia, but Luca surprised everyone again and after 45 minutes he was breathing by himself! He is a fighter!

We stayed with him day and night and very slowly Luca got stronger! We think that the oral treatment started to do its job and helps Luca! During the time in hospital, his liver enzymes stabilised and are back to normal, but another problem appeared – he tested positive for a virus which he has no symptoms for at the moment, but which can be a risk after gene therapy, so again this treatment was postponed for him… We hope that one day, hopefully in couple of months his blood tests results will be ok, Luca will be strong and ready enough to receive his missing gene via Zolgensma treatment.

We are home now, Luca is still fed via NG tube and we still have the machines mentioned above as part of his daily care, but he is stable and we hope that he will get stronger as time goes by. Luca is a happy, beautiful and clever baby! His future is full of uncertainties considering his complex, life-threatening condition, but so is for everyone else. This is why we appreciate every moment with Luca and we are grateful for every second of our lives as a family!

How will the funds be used?

We have never thought we will be in this position, but Luca needs help in order to live the best life possible. As part of his care, physiotherapy is a key component for his progress as well as hydrotherapy. The private physiotherapy sessions are around £80 per hour and with just 2 hours per week the annual cost is £8,320. Luca will also need special, personalised equipment as he grows and wheelchairs.

We want to give him the best care and support! We want to be able to offer him all the treatments that can maximise his progress! He is everything for us, he showed us he wants to fight for his life so we, as parents need to fight harder to help him!

Thank you for reading Luca’s story, understanding why we are raising funds for him. Every little donation means a lot, we will be forever grateful and we will make sure Luca will know how many people helped him to have a happy childhood and a good start in his life.

If you want to follow Luca's journey, you can check his Instagram profile - luca.the.firefly - where we will keep you updated with his progress.

With thanks and appreciation,

Madalina, Robert and Luca.