Luca was born to us, Lynsey and Claudio. After two days of labour he was delivered by emergency caesarean due to fetal distress. He was perfectly healthy and no concerns were found after his delivery, or at his 6-8 week developmental check.
Luca was holding his head for a few seconds at a time a few days after being born. We remember being amazed by this and thinking how strong he was. He would kick his legs and wave his arms around, while rapidly turning his head from side to side – like any other baby. He was a calm baby by nature, so it wasn’t significant to us that his cry wasn’t ear piecing or that he wasn’t wiggling all the time. Breastfeeding was going well and he was growing nicely. He began to smile and interact more.
Luca continued this way for the next few weeks. Everyone remarked on what calm a baby he was. When he was held he never wriggled, but contentedly sat and looked around. When on his playmat Luca would wave his arms at the toys, but didn’t lift his legs very high. When he was being held by other people they always looked awkward trying to handle him – never looking quite comfortable. Claudio and I were used to Luca, so never had a problem handling him. Being familiar with child development I began to be a little concerned about his gross motor skills. I knew he could do certain things and reasoned development is individual, and that Luca’s development was at the lower end of the scale. To encourage his skills, amongst other ways, Claudio and I would put him on his front to help him hold up his head and push up on his arms. But Luca would just lay flat on his face and get very distressed. We tried again and again, but Luca didn’t improve.
Luca continued to breastfeed, but was suffering very badly from wind and colic. We weighed him at 12 weeks and found that he not gained any weight. This puzzled us, but we reasoned that the colic was interfering with his feeding and endeavoured to fit some more feeds in during the day. We planned to weigh him again soon to make sure he was gaining weight. We were giving him Infacol – a thick liquid medicine to help with his colic – and Luca would hold it in his mouth for quite a long time before swallowing it, all the while crying. But it did help him burp, so this helped him with his feeding. Luca never slept through the night. It seemed he was hungry so I would feed him, but after a few minutes of feeding he would fall asleep, then wake soon after. This continued throughout the night, every night. The colic continued, so we abandoned Infacol and started trying Gripe Water. Again Luca would cry when we gave it to him, but would eventually swallow it. One particular day we gave him the Gripe Water and he started to cough and splutter, then started to choke. We quickly got him up over Claudio’s shoulder and patted his back to help him through it. We reasoned that because he was crying the Gripe Water had gone “down the wrong way”.
Claudio and I filmed Luca often to capture every moment, as most new parents do. We settled down one evening to look back at some of the footage. Watching Luca at a few weeks old waving his arms around and kicking his legs in the air left us shocked. When something is so gradual you don’t always see it, and we couldn’t deny how much Luca had deteriorated compared to then. Now we were really concerned. We started to research problems on the internet, mainly about floppy babies. Luca could just about hold his head for a second, was moving his arms, and he would move much more in the bath. This reassured us. Our first thoughts were that he had hypotonia or low muscle tone. This subsided our worries for a while as we expected that he just needed physio therapy. This would have been our best-case scenario. As we continued to research the problem we thought it could be Cerebral Palsy – our worse-case scenario. Or so we thought.
We attended an appointment with our GP Dr Davidson on 17th September 2008 and talked to her about all our concerns. She examined Luca and decided he needed to be seen by a paediatrician, so made a referral to the local Development Centre. We were seen there on 24th September. When we walked into the consulting room there were 3 paediatricians and a physiotherapist. This put us instantly on alert and added to our worries. They talked to us and examined Luca, but much to our surprise rather then spend most of the conversation talking about his muscle tone and motor skills as we expected, they were more concerned about his chest. They asked if he ever had difficulty breathing and if he was born with the dip in his chest that he had now. We had never found this dip significant and always had thought he was just ‘pigeon-chested’. They questioned us more about his chest and upon leaving the appointment they emphasised that we were to take Luca to A&E if he were to struggle to breathe. This now had raised so many more worries in us – in areas we never had considered before. We didn’t understand what the doctors had seen. We returned home in a state – our minds racing with questions and worries. At this point still no name had been given to what Luca might have wrong with him. One of the Paediatricians from the Development Centre called us at home that evening – this seemed strange. He told us that we were to go to Evelina Children’s Hospital tomorrow morning to see a Neurologist there. Panic started to rise in us at an unstoppable rate. We now knew that something serious was suspected in Luca – to be sent to see a Neurologist the next day. In the morning, after not getting any sleep, we headed off to the Evelina. Luca didn’t have an appointment, but had been slotted in after the Neurologist’s surgery. Another fact that emphasised to us how serious this all was.
So on 25th September at the Evelina, Dr Wraige examined Luca in the same way all the previous doctors had done, and asked similar questions. She asked if anyone had yet mentioned to us what Luca may have wrong with him. Her next words changed our lives forever. She said Luca was showing all the symptoms of a condition called Spinal Muscular Atrophy (SMA) Type 1 – the severest type. As Dr Wraige continued to talk, explaining about the condition and how it affects children, I started to sob and Claudio had a look on his face I will never forget. I could see where she was heading. Half listening through shock and panic as she explained that Luca’s chest muscles were failing him, that he was over using his diaphram to breathe which is why his chest was dipping, I pre-empted her – “He’s going to die, isn’t he”…
This is where our blog starts. Luca was sent for a blood test that same day. We received the results a week later, 3rd October 2008. Looking back now we can see the signs of Spinal Muscular Atrophy – hindsight is a wonderful thing… But there was always another explanation, and you never expect the answer to be “it’s because your baby is terminally ill.” Luca wasn’t suffering just from wind, but he was hungry because he couldn’t drink his milk. He choked on the Infacol and Gripe Water because he could no longer swallow properly. He continuously woke in the night because his body was alerting him to the fact that he wasn’t getting enough oxygen, and because he was hungry. The list goes on.
Our lives changed completely that day. How we saw everything in the world was different and would never be the same again. We were thrown into a world of medical care for our baby that we were so unprepared for - and we had to learn fast. Since that day of diagnosis we have had to live with the constant fear that Luca could die any day. Any day. That is something that as a parent you can never digest.
When Luca was diagnosed we were told he would most likely die before he reached a year old, as 80% of SMA type 1 children do. At 6 months old he contracted bronchiolitis and ended up in PICU fighting for his life. We nearly lost him then. He nearly was part of that statistic. But we didn’t. We chose to managed Luca’s care with the use of the Bi-pap ventilator to compensate for his inability to breathe. Luca turned one. Then two. Now three.
Our journey continues and can be seen on our blog: lucafuorvito.com
You will read about our highs and our lows. The times we have been in hospital. The times we have got Luca through serious choking episodes and illnesses. The time he fell into unconsciousness because he wasn’t breathing for so long. The realities of living with SMA. You will also read about taking Luca to the park, the aquarium, the park, the museum. You will see him playing. You will see him learning. You will see him laughing. You will see him being loved. You will see him loving life.