Bea’s story is written by her mum, Coleen. Infantile spasms is frequently initially misdiagnosed as more commonly occurring conditions in infants like colic, CMPA, Sandifer’s syndrome
Bea was born in September 2019 after an uneventful pregnancy. The early weeks were difficult, but nothing that we thought was out of the ordinary. She struggled to maintain her birth centile (she was born on the 75th, and had dropped to the 9th by the time she was 8 weeks old); she also had spells of inconsolable crying. Health visitors alternated from saying that she was healthy, to telling me that something was wrong and “it’s up to you to find out what it is”. A visit to one GP led to Bea being diagnosed with cow’s milk protein allergy. Both Paul and I were sceptical, but dutifully put her on neocate formula. It didn’t help, and made her sickly. Another GP said to try comfort formula. Again, we did. Nothing helped her gain more weight and I dreaded the weigh ins. I felt horribly inadequate. A google search found the term “failure to thrive” which certainly didn’t help.
At the end of December 2019, Bea began to make unusual movements. I videoed some and took them to the weigh in. The health visitors shrugged and told me to take her to the GP if I was concerned. A third GP saw the video and diagnosed Bea with reflux and colic. I dutifully tried each colic medication in turn. Nothing helped. If anything, it was getting worse. Bea would wake; have these movements for 5-20 minutes and then be inconsolable. Paul and I resorted to driving her around until she settled. It was exhausting and worrying. It would happen 2-3 times a day/night and I dreaded her waking up in case the movements started.
By the beginning of February, we were frazzled and desperate for the colic to go away. In the meantime, Bea was also exhausted, and she seemed more withdrawn than the babies her age. I knew it was harming her development. An in-depth google search finally showed a video that looked like Bea’s movements. Initially, I was elated that I had finally found out what was wrong. This turned to horror when I read that Infantile Spasms was a “catastrophic diagnosis”. The prognosis was bleak, with a high mortality rate and a near certainty of life long disabilities.
So, I went back to the GP that day. She listened and believed me. She arranged for us to see a paediatrician the next day. I got more videos and we saw him for an hour. He examined Bea and looked at the videos. He concluded that she had Sandifer Syndrome and prescribed omeprazole. He said he’d review her in a month. I was unconvinced and he said “there isn’t a chance that she has infantile spasms”. Again, we dutifully tried the omeprazole and nothing improved. I felt like I was going mad. I knew something was wrong, but all these medical experts disagreed.
Less than a week later, Paul and I took Bea to A&E. She was admitted to paediatrics after I cried and begged. The consultant said that she admitted Bea because of my reaction rather than medical evidence. Later, Bea had her movements, and she was rushed to the high dependency unit. An EEG was arranged. It showed no evidence of hypsarrhythmia, and we were told that Bea didn’t have IS. We were discharged.
A week later, Bea had an ambulatory EEG at home. A day after her wires were removed, we received a call to come in as soon as we could. We were told that Bea did have IS and would need to transfer to Southampton Children’s Hospital for further tests and treatment. Within 2 hours, Bea had an MRI. About an hour after, we were given more bad news: Bea’s brain did not form properly in the womb, and she had a neuronal migration disorder. We were told that she may not walk or talk, and she’d likely be intellectually disabled.
The next weeks and months were a whirlwind of medications, appointments, and constant worry. And covid hit. Luckily, Bea responded to treatment right away.
Our lives have been altered forever. Bea’s movements returned within a year, and they haven’t gone away. I wish I could say that I was listened to straight-away once they were back. It took over 2 weeks before a medic confirmed what I knew within seconds. It’s incredibly frustrating and genuinely traumatising.
Bea will be 6 in September. She can walk and run. She can climb and even ride a horse. She attends a mainstream primary school. She has a few words, and communicates using picture boards and some signs. She is intellectually disabled. She is also funny, compassionate and energetic. She loves music festivals, planes, the beach, rainbows and unicorns. She lights up the room. We love her dearly. She is our Bea.
