Life was pretty monotonous after the diagnosis of Harrison's complex heart condition. He started to deteriorate quickly and was being admitted to our local hospital almost every other week. Firstly, with increasing difficulties feeding and then with frequent viruses and infections. Within a couple of weeks of diagnosis of the heart condition he was fitted with a feeding tube; initially via his nose (nasogastric (NG)) until it was changed at around eighteen months to a stomach tube (gastrostomy). Tube feeding became the dominant port of entry for nutrients into Harrison’s body for the next three years.
We had a small suitcase permanently packed by the bedroom door so that we could just grab it and head to the hospital paediatric assessment unit at a moment's notice. For some reason, Harrison tended to rapidly decline in the middle of the night. We spent more time in hospital than at home over the first few years of his life. Harrison's cheeky personality when he was feeling well enough, made him quite popular with the nurses!
During one of these first admissions, we were given the news that a blood test had shown that Harrison had 22q11.2 Deletion Syndrome (22q DS). Unbeknown to us, during our brief visit to the Royal Brompton hospital, one of the cardiologists who examined Harrison suspected that he had 22q DS (the heart condition being one of the 180 + possible symptoms) and requested our local hospital to perform a blood test to check out their suspicions.
Even though we were only in our first month of diagnosis, I’d already spent enough time in the hospital to become familiar with the daily ward rounds. Harrison was always afforded VIP treatment as an inpatient. He was allocated one of the high dependency rooms immediately behind the nurses station. They liked to keep a close eye on him as he tended to deteriorate without any warning.
One particular morning, several more doctors, medical students, nurses and other ward staff entered our room with Harrison’s consultant paediatrician. I was asked to sit down. At this point, I was completely oblivious to the fact that Harrison had been tested for any genetic condition, and as far as I was concerned, all his problems were due to his complex heart condition. Apart from yet another chest infection, for which he was receiving intravenous antibiotics, Harrison was actually quite alert and happy that morning. One of the nurses came and sat beside me which obviously put my guard up. What on earth was I about to be told that warranted all these people in our room? Thoughts started rushing through my head – surely the antibiotics were working? Harrison seemed relatively ‘well’ compared to how he was a couple of days previously. What could be worse than having a complex heart condition? We’d been told that they could improve it with surgery. Were they about to tell us that they’d made a mistake and that they couldn’t operate?
We were told that our precious baby had DiGeorge Syndrome. Twenty-three years ago this was the more common name for 22q11.2 Deletion Syndrome (22q DS). The condition was named after Dr DiGeorge who first identified a collection of symptoms in patients. 22q11.2 Deletion Syndrome is / has also been known by some other names. I'm planning a post called ‘The Name Game’ to explain the full history of the condition. The consultant apologised that he was unable to offer us a prognosis for Harrison. He didn’t know whether he’d be able to walk, talk or what the extent of his learning difficulties might be. I vowed to myself there and then that Harrison would defy the odds and my primary role in life from that point onwards would be to help Harrison to reach (or even surpass) his potential whatever that may be. I couldn't believe that the alert, happy baby interacting with anybody who paid him some attention, would not have a meaningful life. I can remember thinking, “Was that what all this fuss was about?” Personally, I was more devastated learning about the heart condition than I was hearing about this genetic diagnosis. I had no control over the outcome of Harrison’s heart surgeries; however, I could have a hand in determining his development. My career as a training officer had just proven its worth. Immediately, I started forming ideas in my mind as to how I could encourage Harrison’s global development. At this point, I was oblivious to the sheer number of possible symptoms associated with the condition.
Twenty three years ago the internet was in its infancy. There was no such thing as Facebook or internet chat rooms. The references to 22q DS all originated in the US and the outlook for these children was grim – apparently most died by their second birthday.
Being a genetic condition (which meant that it could be inherited), arrangements were made for Bernard and I to be tested and then to visit a geneticist for the results to be explained to us. In our case, the deletion on the 22nd chromosome was de novo meaning that neither Bernard nor I had passed this condition onto Harrison. I wasn’t surprised to hear this news because neither of us presented with any of the symptoms.
I've created a new section on the lefthand side of my blog 'Resources and Downloads'. Take a look at the Medical Links document to view a complete list of the symptoms associated with 22q11.2 Deletion Syndrome. This list was complied by the Virtual Center for Velo-Cardio-Facial syndrome, Inc. (Another name for a deletion on the 22nd chromosome!)
Symptoms can appear throughout an affected individual's lifetime. Using that list as a basis, Harrison’s symptoms to date include:
| Palate anomalies Ears – over folded helices Small ears Suborbital congestion (“allergic shiners”) Ventricular septal defect (VSD) Pulmonic atresia and stenosis Tetralogy of Fallot (TOF) Right-sided aortic arch Reduced total brain volume Unilateral vocal fold paralysis Reactive airway disease (asthma) Small hands and feet Tapered digits Feeding difficulties Failure to thrive | Chronic constipation Gastroesophageal reflux Nasal regurgitation Irritability Poor temperature regulation Slow gastric emptying Scoliosis Flat foot arches Hypoparathyroidism Altered growth velocity Immune deficiency or immune disorder Chronic upper and/or lower respiratory illness in infancy Velopharyngeal insufficiency Thrombocytopenia | Severe hypernasality High-pitched voice Language impairment Severe articulation impairment Learning disabilities Concrete thinking, difficulty with abstraction and problem-solving Executive functioning impairment Attention deficit hyperactivity disorder (ADD/ADHD) Autism spectrum disorder (ASD) Working memory disorder Auditory processing disorder Generalized anxiety disorder Simple phobias Separation anxiety |
I quickly got used to living with a ‘sick’ child, however being with Harrison 24 hours a day I frequently missed his gradual deterioration. Thankfully Bernard was far more observant, and because he was out at work all day, he often noticed changes that needed to be checked by a doctor. These changes inevitably led to another hospital stay. We also had visits from the community nursing team at least twice a week to minimise Harrison’s exposure to infections at the baby and hospital outpatient clinics. They were also alert to any brewing infections that required treatment.
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