Fia is the youngest of my four children. She took a little longer than her brothers and sister to develop through her baby stages but she reached her milestones of sitting, talking, walking and was an absolute delight. Despite being a littler slower I was concerned that she always vomited after a feed. I felt I was constantly taking her to the Dr as she was feeding 24/7, what went in came out and then she was hungry again so we were in this constant feeding/vomiting cycle.
By the age of two Fia had been picked up by the community physio as her walking was a little 'wonky', various other agencies started to become involved and I felt listened to that something wasn't quite right with Fia. At age 2 Fia broke her leg and whilst in hospital I met a wonderful paediatrician who agreed that something wasn't quite right and needed further investigations. The same paediatrician is still involved with Fia's care and she has a wonderful medical team around her.
Fast forward 6 months and Fia was diagnosed with Alexander Disease, a rare degenerative brain disease with no cure or treatment. I don't need to detail that my heart broke that day. Our local community raised funds for Fia to be seen at the Children's Hospital of Philadelphia where we found hope. Fia is now almost 9 (amazing when she was given about a year to live after diagnosis). Things have changed a lot medically for Fia over the years, her first surgical intervention aged four was a feeding tube as she wasn't gaining weight and continued to vomit. She then began having seizures which turned into her stopping breathing and needing resuscitating multiple times a day, this continued for about 6 months, then with further investigations it was found that it was Fia's heart that was pausing causing her to lose consciousness and stop breathing. Fia had a pacemaker fitted aged 5 and this reduced the number and severity of seizures. Fia then developed scoliosis and can no longer walk independently. Alongside the scoliosis she began having frequent hospital stays for chest infections. Anaesthetists would prowl the corridors waiting to intubate her but by a miracle Fia always managed to avoid this.
Fia now has night time ventilation but despite all of this she continues to amaze with her hilarious humour and antics. She loves people and is very social. Her days can vary greatly and she easily fatigues, she needs round the clock care, support and medical interventions. Her speech is deteriorating but she can certainly let us know what she wants to say. Fia attends an amazing school school now and they will begin banking her voice to enable her to electronically use her own voice when the time comes and she can no longer speak. As I write this clinical trials have started for a drug called Ion373 by Ionis Pharmaceuticals to treat Alexander Disease. I pray that very soon the drug will be trialled in the UK and other families will not have to experience this awful disease that takes our children's lives piece by piece, slowly and painfully.