Fiona Copeland is mother to two boys with the same rare disease, Primary Ciliary Dyskinesia (PCD) - a disease that she knew nothing about until the boys received results of a genetic diagnosis at the ages of six and four. Here she shares her story of discovering PCD.
Our story started in 1995 when I had a thoroughly normal pregnancy with our first baby and life was good. Euan was a healthy weight and after three days in the hospital, we were sent home. He was putting on weight and hitting all his development targets but, looking back with hindsight, he was regularly getting chest infections – with high temperatures and vomiting mucus and he always had a runny nose.
He continued to meet all his development targets, but he still coughed a lot and the Health Visitor suggested we investigate why he ‘Rattled’. At 18 months he was referred to an ENT Surgeon who did a bronchoscopy to see if he had a ‘floppy larynx’ –they told us that he didn’t. They did note in his file that he had abnormal secretions on his chest, but they didn’t follow this up. We have a number of medics in the family –my brother-in-law is a GP, my sister is a gynaecologist and my father a pharmacist, but no one ever thought that the cough was anything to worry about.
Two years later little brother, Gregor, came along. I had a quick delivery with no complications, but he didn’t look very well from the start. He looked as if he had been overcooked –he wasn’t a very good colour and weighed nearly a 1lb less than his brother. We were sent home with him at 12 hours old and had a difficult night with him. He was making all sorts of grunting noises and wasn’t feeding very well. By the morning his tummy was going up and down (which I now know as intercostal recession where a baby is struggling to breath) and when the midwife arrived the next morning, she sent us straight to hospital. After numerous tests and scans, Gregor was diagnosed with pneumonia and he spent the first three weeks of his life in Special Care having intravenous antibiotics. He was by far the fattest baby in the unit as all the others were premature. He was tested for Cystic Fibrosis which was negative and the doctors assumed that he had swallowed some meconium when he was born and that was what had caused pneumonia.
Gregor was also a wheezy, vomiting baby but unlike his brother, he wasn’t hitting his development targets. He didn’t walk until he was 18 months old and didn’t talk until he was two years old. We just thought it was because he was stubborn and a bit lazy, but it turned out that he was suffering from intermittent hearing issues and glue ear, which made speaking difficult for him. We still don’t know why he was late to walk! None of the medical professionals we saw thought we should investigate these issues further.
They both continued to cough, wheeze, have earache, runny noses, and spike regular high temperatures with vomiting. I remember people used to say that they sounded as if they ‘smoked 20 woodbines a day’. Occasional visits to the GP and inhalers were prescribed but no one seem unduly concerned. We just assumed that was what our children were like.
When Euan started school, he had a lot of time off due to coughs and vomiting... he was very quiet and generally didn’t enjoy going to school. The school nurse thought that the cough should be investigated. So I trotted off to the GP and asked him to treat us if we hadn’t ever seen us before. Euan was diagnosed with asthma again and we went home with a different set of inhalers. Tracking compliance with a chart in the kitchen and bribery in the form of toys... Euan diligently took his inhaler as prescribed. Four weeks later we went back to the GP, and he finally sent us for a chest x-ray.
Discovering Primary Ciliary Dyskinesia (PCD)
Life after diagnosis
Getting the right support
Living with PCD
Opening the Black Box
For most people, the journey to a genomic diagnosis - from initial consultation to delivery of the test results - is a black box. Samples enter through one side and out the other side an answer (hopefully) emerges. Through a series of short video conversations, Congenica follows the journey of one young patient and their parent, exploring every stage of the diagnostic odyssey from first realizing that something was wrong.