It was a “Gruck” evening! An “Eskom-Gruck” evening! I sat in the dark with my candles burning around me. In actual fact, my bedroom looked quite good in this blackout. The flames from the candles surrounding me, cast wonderful shapes on my wall hanging. My beautiful stained glass lamps caught the candle flames and laughingly reflected them in green, orange and blue splashes on the wall.
How dare Eskom behave in this manner? “Due to technical problems at its power stations, depleted water reserves and logistical issues relating to diesel supplies at its peaking power stations, Eskom’s power system was extremely constrained”, the parastatal said. Forget constrained, I thought, Eskom is in the dwang! How dare they allow their machinery to fall into misuse? Their silo collapsed because it wasn’t looked after! And then in last Sunday’s newspaper I saw the salaries that some of the top executives earned at Eskom. They were astronomically high! Eight and a half million rands in 2013 to a parastatal! All paid for by us! And what were we getting in return? These miserable, frigging blackouts!
Grumpily I pulled my iPad towards me and read through a couple of e-mails that I had received earlier that day. The third e-mail caught my attention. It was from a woman who had interviewed me about my blog. I remembered her. We had a fun morning chatting and laughing together. She had mentioned her transcription business and I had pricked up my ears. I wanted to “Kindlerize” my book, My Plunge to Fame, and needed someone to retype my book from scratch. The original floppy discs containing the manuscript had long since been lost. No problem, she took on the job. The email informed me that the task had been completed. How wonderful! I looked at her name – Gaynor Paynter. What a beautiful name, I smiled to myself. I read on and my smile disappeared.
Gaynor said how much she had enjoyed reading my book whilst typing. She wished that she had read it when her child was small and he was battling with Beckwith-Wiedemann Syndrome. What on earth is that, I thought? I instantly pounced on my favourite App – Google. The answer is there for all to see. Beckwith-Wiedemann Syndrome is a rare genetic disorder affecting approximately one in every fifteen thousand children. It is an overgrowth disorder. I had always thought that having a big baby was a good thing. It’s the opposite of small, weak and feeble, not so? It would seem however, that large is not always good.
When Brandon was born he weighed 4.57 kgs which is an abnormally large weight for a baby. Indeed, he was the second largest baby ever born in the Clinton Clinic at that point! Immediately after he was born his blood sugar dropped really low which was quickly stabilised. He was born with an umbilical hernia which they repaired when he was one day old and he stayed in neonatal ICU for a week. At that point the doctor called the parents aside and said: “This child has got problems, and we don’t know what they are….”
A big baby needs food and Brandon was HUNGRY! He drank and ate a lot. Although being enormous he didn’t DO anything physical. He didn’t start moving around as normal babies do. ‘Please sit and crawl,’ his parents prayed, ‘or play with your toys!’ Brandon was having none of that. He lay there, simply staring up at them. Verbally he was spot on and said his first word at ten months “And,” laughs his mother, “he hasn’t shut up since.”
Physiotherapy ensued and he eventually walked when he was two years and four months.
The paediatrician recommended a biopsy, the results of which were sent to America. And lost. Twice! Brandon’s nursery school teacher kept filling them in on how Brandon was not able to do the things his classmates were doing. Brandon’s parents were tearing their hair out! What was wrong with their little boy? Then he was rushed to hospital with a fever and suspected meningitis. He didn’t have meningitis, but a brain scan was performed and it was discovered that he had an arrested brain atrophy. He also had an enlarged liver. Gaynor and her husband demanded that the paediatrician provide them with an answer to what was going on – immediately! They were referred to The Genetic Counselling Clinic and that was where they learnt that their child had Beckwith-Wiedemann Syndrome.
Children with this condition are large at birth and basically continue to be large until they sort of “grow into themselves”. They actually stop growing earlier than other children. That explained the incredibly large birth weight and enlarged liver. Brandon had it mildly and didn’t have the large tongue or deep ear pits that many children have with the condition. He did however have the ‘stork bite’ birthmark on his forehead which is often prevalent with BWS. It is a rare condition and not well known in South Africa. This is why it took so long to diagnose.
Via Google I came across the story of Jack Ives. Jack who is only 5 years old is already 4ft 2inches tall, neck and neck with boys finishing primary school. His mother is constantly having to replace his clothes and shoes because he grows out of them so quickly.
Jack is one of only 64 people in the UK born with Beckwith-Wiedemann Syndrome. He was born six weeks premature yet still weighed in at 7lbs 3oz. The first 12 months of his life were spent in the intensive care unit at Sheffield Children’s Hospital. Jack has already undergone 15 operations including three on his tongue to make it shorter, and has also had a tracheotomy and a gastronomy to enable him to eat and breath properly.
Fortunately, Brandon’s case was mild. The doctor told Gaynor and her husband that they were already providing the best therapies they could for him with Occupational Therapy and Physiotherapy, but that there was one further serious complication. Apparently young children with Beckwith-Wiedemann Syndrome are prone to abdominal cancer. So it meant a round of six monthly sonars and scans for him to ensure that no cancer was developing, until he turned eight. Thankfully Brandon remained cancer free. The protocol in America now is to go for scans every three months and blood tests every six weeks, which shows what a fast developing cancer it is.
Today Brandon has grown into himself and is a totally normal fourteen year old. What was so utterly frustrating for Gaynor and her husband was that their child was five before he was correctly diagnosed. For years they had “to grope around in the dark”, trying to discover the “key” to unlocking Brandon’s condition. I sat there in that “Gruck-Eskom” evening and suddenly the darkness didn’t seem so all encompassing. Eskom had to get this whole untenable situation sorted out, but this was Eskom’s problem not mine. But, there was something I could do. Shine a light on Beckwith-Wiedemann Syndrome so that other parents didn’t have to ‘grope around in the dark”. If people are more aware of this condition then it’s dangers, diagnosis and consequent treatment may not be so incredibly drawn out.
So, please, spread the word about Beckwith-Wiedemann Syndrome. By doing so, you could end up saving a childs life!
Brandon’s mum has found the Beckwith Wiedemann Syndrome Facebook Page invaluable.