Toddler Misdiagnosed with Fatal Disease Only Has Vitamin Deficiency

A toddler who was misdiagnosed by doctors with a disease that slowly deteriorates the body, only has vitamin deficiency.

Mum, Stephanie Rossiter, 23, and her fiancé, Steven Davison, 25, were losing hope when doctors told them their son, Taylor, had a  life-shortening condition mitochondrial disease called Leigh Syndrome which causes the body’s organs to shut down one by one.

It happened on April 14th this year, when Taylor became floppy and lost all colour in his face. He was rushed by ambulance to the Great North Children’s Hospital (GNCH), Newcastle, where he was brought straight to the resuscitation ward. “If patients are there, it is really life or death. We were so distraught we thought we were going to lose him,” Stephanie said.

Taylor’s condition slowly deteriorated as he developed nosebleeds, breathing problems and dropping to just 3.1kg less than what he weighed when he was born. He couldn’t eat and was wheezing every time he breathed.

However, when blood tests, MRIs and electromyograms were all clear, doctors told Taylor’s parents that he has symptoms of the incurable mitochondrial disease. It is the result of mitochondria in the body’s cells not producing enough energy, which limits the sufferer’s mobility and their ability to swallow and breathe until the body eventually shuts down and can lead to death in as little as two months.

“When we were told it could be mitochondrial disease and that it was incurable our hearts broke we were absolutely devastated,” she said, adding that the next month was “hell.”

While Taylor’s blood tests were sent to a specialist clinic in Oxford and while doctors awaited an official diagnosis, Taylor was given a series of vitamin tablets which are used to ease the symptoms of the condition.

Miraculously, Taylor responded to the treatment — eating properly and learning how to walk again within a few days — which earned him the nickname “mystery boy” in the hospital due to his speedy recovery.

When his blood tests came back in June, it was revealed that Taylor actually just had a deficiency of the vitamin, biotin — a vitamin used to help those suffering from mitochondrial disease. The deficiency is called biotinidase deficiency which imitates the symptoms of Leigh Syndrome but is far less debilitating and much rarer.

This means that Taylor will in fact be able to live a completely normal and long life by simply taking daily vitamin supplements.

Dr Robert McFarland, who runs the paediatric mitochondrial disease service at the GNCH, said:

“Biotinidase deficiency is a very rare disorder with approximately 1 in 140,000. It results in a deficiency of Biotin – Vitamin B7 – an essential co-factor in a number of enzymes involved in the metabolism of fats, proteins and carbohydrates.

“Deficiency of Biotin can cause a condition very similar to Leigh Syndrome with seizures, floppiness, unsteadiness and involvement of the same areas of brain on MRI scan. This is probably because mitochondria house many of the enzymes involved in metabolism of fats, carbohydrates and proteins,” he explains.

Taylor, now 21 months, stayed at the hospital for six weeks but is now back home. Now, his parents are fundraising for mitochondrial disease awareness.

“Steven and I don’t have a ‘mystery boy’ we have a ‘miracle boy’.

“Our lives have been completely turned upside down and then turned back over again in just a few months. It’s been a whirlwind “¦ We’ve gone from having tears streaming down our faces every time we looked at him, to cherishing every single moment.

“From the day he started the vitamin treatments he got his smile back and so have we. We never thought we’d see him happy or walking again,” Stephanie said.

Source: Kidspot.com.au