In 1991, Karen Hackney wrote an article in the newsletter for the Research Trust for Metabolic Diseases in Children (now Metabolic Support UK) about her son Peter, aged 10. At the time of writing, CDG was known as Disialotransferrin Developmental Deficiency Syndrome.
You can view the original article here.
Peter was 39 when he passed away in 2018 and Karen had never met another family affected by CDG. She made contact with CDG UK in early 2019 and shared the article with us. Karen also sent us an update, which she was kind enough to invite us to share.
An article about my son Peter, which was published in the Research Trust for Metabolic Disease in Children in 1991 was recently posted on this group. The article provides highlights of Pete’s life up to the age of 9. Here I will provide the rest of Pete’s story up to his passing on 17th December 2018.
Pete had a 90 degree curvature of his spine due to Scoliosis, so at the age of 9 he had major surgery whereby two metal rods and forty eight wires where used to correct the position. Pete was in theatre for 10 long hours but as usual Pete bounced back and was home in three weeks and spent around 12 months convalescing.
During approximately 20 years of stability Pete obviously wanted to communicate and would become very frustrated, which he displayed through major tantrums which included him banging his head on the floor and hitting himself in the face. I managed to teach him to nod “yes” and “no” which made life so much easier for the both of us. Eventually he moved on to using Makaton sign language for “toilet”, “food”, “drink” and he picked up some words “hiya”, “bye” “dud dud” for drink and typically a few minor swear words (picked up from school of course!)
Pete learned to bum shuffle around the house, leaving a trial of destruction behind him, ripped up magazines, cars and crayons. He loved to pull every item out of his toy cupboard and would huff and puff when told to put them back.
Pete became a very sociable character; he loved attention, especially from the ladies. He liked to pass his time looking through catalogues and pointing to toys he wanted, watching cartoons, playing with toy cars which had to have doors which opened so that he could screw up tiny pits of paper to stuff inside them. Pete had a wicked sense of humour and took great delight in other people’s mishaps such as tripping over or bumping their heads. His nickname was “Cheeky Monkey” and he eventually learned to impersonate monkeys. Pete adored his Brother Wayne, they would get up to mischief including Wayne teaching him to do wheelies in his wheelchair despite my worried expression.
Pete had no sense of time. We often made the mistake of mentioning Christmas, birthdays, a party and Pete would assume it was about to happen and ask (in his own language) about them again and again. He wanted it now. We eventually learned to hide presents before the day to avoid the constant excitement.
Pete was obsessed with holidays, he would flick through holiday brochures pointing at the sea and swimming pools saying “in there!”. My sister and I took him on a cruise to quench his holiday appetite and he had so much fun. He was adored by the crew who all new him by name by the end of the holiday, he wanted to party all night and sat bewildered by the ships entertainment. Never a dull moment with Pete, he constantly kept us entertained.
Around the age of 34 Pete started to deteriorate. He was rushed into hospital with his first seizure in many years. Various infections and seizures lead to numerous hospital admissions but each time we thought we were about to lose him, he bounced back.
Pete started to complain of pains in his legs and after pushing for investigations, tests and x-rays he was diagnosed with arthritis and dislocated hips. This meant from then on that Pete had to be hoisted. Despite strong pain relief Pete appeared to be in constant pain which was heart breaking.
Pete lost interest in food and it was found that he had gastroesophageal reflux, so went onto pureed food. This was difficult for all of us because Pete loved his food, especially strong flavours like curry and lashings of brown sauce on any meal.
On the 10th November 2018 Pete had seizures which lead to him to being admitted into hospital again. He was sedated for some time whilst the medical team experimented with anti-seizure drugs. Unfortunately nothing worked, doctors described his brain as being in a constant state of seizure. My family and I knew that Pete had had enough and so we all told him that he if he wanted to go he could. We knew that Pete would not want to live like this, his character was too strong. My beautiful boy passed away on the 17th December 2018 aged 39 surrounded by his family.
We are incredibly grateful to Karen for sharing her family’s story. By opening up as a community we are able to support each other through highs and lows. We hope that by funding further research, we will be able to improve the lives of families living with the effects of CDG.