By Liana Jacob
A RARE CONDITION meant that this little boy’s spine rapidly curved at a NINETY-DEGREE angle which CRUSHED HIS LUNG and left him struggling to SWALLOW.
Accountant, Melissa Llewellyn (39) from South Wales, UK, immediately noticed something was not right about her son, Osian (2), when he was born in 2016.
When she picked him up it was like ‘holding a bag of water’, which was the first sign he had hypotonia, floppiness caused by weak muscles, which meant that he didn’t have a full range of movement, a weak cry and poor reflexes meaning that he can’t suck.
Osian had lost 15 per cent of his body weight at birth in just five days. Melissa and her husband, Craig (37), fought to get answers from doctors about their son. He had genetic blood tests done when he was two and a half years old and five months later they received the results which concluded that Osian has Prader-Willi syndrome, a rare genetic condition which causes a wide range of physical symptoms including excessive hunger, restricted growth and hypotonia.
His floppy muscles caused his spine to curve at a 90-degree angle which in turn crushed his right lung causing him to struggle to swallow.
Melissa and Craig were devastated when they heard the news but their son was taken into surgery in April 2019 and will continue to have surgery to adjust the titanium rods every six months as he grows older.
Osian has developed anxiety and has had meltdowns following the extreme changes in his life; due to problems with his lung and with the rods being fitted, he cannot bend and Melissa and Craig have to be careful when picking him up or changing him.
They now want to raise awareness of his journey and condition by setting up an Instagram page illustrating his recovery process.
“I knew straight away when Osian was born that something wasn’t right; he was so floppy, he didn’t cry and he constantly slept,” Melissa said.
“For the first six months of his life the only person who could feed him was me, I basically poured the milk into his mouth holding him in a certain position that he wouldn’t choke. He couldn’t suck and struggled to swallow, picking Osian up was like holding a bag of water.
“Most children born with Prader-Willi need a feeding tube, but the late diagnosis meant Osian never had one.
“I took Osian to a chiropractor after we weren’t getting any help from the hospitals which did improve his ability to suck.
“After fighting to get answers Osian had genetic bloods done at two and half months old, we received the results five months later where we were told that Osian has Prader-Willi syndrome.
“Myself nor my husband had never heard of it before, and the doctor googled it in front of us; the internet is very scary and painted a very bleak picture – we were devastated.
“Hypotonia is what caused Osian’s spine to curve; his muscles in his trunk are very weak and his spine had no support.
“So many admin errors with the hospital meant that Osian’s curve increased rapidly to over ninety degrees, crushing his lung.
“It was a very difficult time even though we knew there was something wrong we never thought it would be a rare genetic condition.
“We were shocked, and Craig was grieving for the son he thought he would have. Scoliosis was scary because Osian is on growth hormones and certain doctors said that growth hormones make it worse.
“He has to have sixty per cent less calories than a child his age because of the weak muscles and lack of gross motor skills yet he will still be 600 times hungrier.”
Osian has had two orchiopexy surgeries, where a procedure is done to move an undescended testicle into the scrotum and permanently fix it there to resolve testicular torsion, in 2018 and a spinal surgery in April 2019 and had to use a wheelchair to get around due to the weakness of his leg muscles.
Melissa has since received a mixture of positive and negative comments, one being that Osian ‘looks normal’ which has angered her.
“Osian has global development delay; at nearly three years old his abilities are around the age of twelve months as he cannot walk or talk,” she said.
“It breaks our heart to watch children his age running around, playing and seeing Osian not always able to join in.
“He finds it frustrating that he can’t communicate with us, now he has had spinal surgery it means we have to be even more careful with what we allow him to do as he can no longer play on the swings or on a slide.
“Osian has to have a routine in place and he gets very anxious and will sometimes have meltdowns if he doesn’t understand why things are changing.
“I have researched Prader-Willi and studied it for the past two years, I have contacted a consultant in America and London.
“Knowledge is key; there is no cure for PWS, only management. I manage his condition by a strict diet, Osian has never tasted sweets, chocolate or anything with more sugar. I do a lot of physio with Osian and we try and stick to a strict routine.
“Social media has been a great comfort and support to me. There aren’t many cases of PWS in Wales, so I do it to help raise awareness and connect with other parents.
“One of Osian’s lungs was restricted so he had breathing issues, now the rods are fitted he can’t bend, and we have to be very careful with picking him up changing him, even changing his nappy.
“It has restricted his flexibility, but it has also helped his breathing and his posture is now amazing. Osian has grown by 2cm.
“We get comments like ‘he looks normal’ – this is the one that gets to me the most. I feel angry; I just can’t understand why anyone would say that he is normal, define normal. We also get people who say, ‘will he walk, will he talk?’ or ‘can’t you give him a diet pill?’
“I have many fears; the uncontrollable eating hasn’t started yet and it concerns me how I will cope when my son will be constantly hungry and begging for food – how will I say no?
“How do I tell my son he will never be able to have children? I just hope that one day they will find a cure. It took some family members a long time to accept Osian as being disabled. We have a great support network of family and friends they all love Osian and are amazed by him.
“Don’t read too much on the internet; contact PWSAUK and speak to other parents but remember it is a spectrum disorder, a rare condition and no two children are the same. Enjoy your baby and cherish every day. Fight to get your child on growth hormone ASAP.”