Couple to meet UK Health Minister to press for heel prick test that might have saved Teddy from MLD
A Portadown couple will meet a UK Health Minister tomorrow to press for the introduction of a test that could have saved their "cheeky, funny little monkey" from a rare genetic disorder.
Marvin and Jemma Johnston lost their seven year old son Teddy only six weeks ago to Metachromatic Leukodystrophy (MLD).
"He was a cheeky, funny little monkey who liked to do everything that a normal little boy did," Jemma told the News Letter.
"He would have wrecked the house and the garden. He loved playing with his sister.
"He loved baking with his granny, and loved going on my dad's boat. He was an adrenaline junkie, I suppose.”
Teddy was perfectly normal until he was 17 months old.
"He was independently walking at 11 months so we had no concerns whatsoever.
"Then he started to walk with the limp. We thought it was a normal childhood injury from falling, but it progressively got worse."
The couple lived in Amsterdam at the time. After going to the doctor he was diagnosed with MLD in less than five weeks.
"But even that wasn't fast enough. This needs to be caught really early - before there are any symptoms."
The only thing that might have saved him was a heel prick test for the condition.
After the diagnosis they got to enjoy "another year of him being as normal as he could".
Over the space of a year his mobility declined, but his mental capabilities remained.
Then within a month, he completely lost the ability to move and talk and his swallowing was affected.
Teddy never complained or gave up.
"We were watching videos this week as he struggled to walk, and he did everything he could to continue. There was no element of him giving up."
He used a three-wheeled toy for balance as he walked.
When they discovered that he had gone blind he "just actually laughed" as though he was thinking: "it's about time" she said.
Teddy passed away on 16 April, aged seven.
They were told he would not get past the age of four, but his parents poured such care into him - both giving up careers - that he almost made it to eight. His birthday would have been on 23 May.
Now they are campaigning for MLD to be tested as part of the UK newborn heel-prick screening programme.
The government is refusing because it says there is no evidence the test is accurate.
"But that is absolute rubbish," Jemma said, citing Prof Simon Jones, a leading expert in the field from Manchester.
The proof the test works, she says, is the many children who tested positive over ten years ago got treatment and now live normal lives.
"The problem is that there were only tested because one of their siblings had already died.”
Today Carla Lockhart MP will take the couple to meet UK Health Minister Sharon Hodgson as well as the Conservative and Reform health spokespersons to press for urgent action.
"We cannot continue with a situation where a life-saving treatment exists, yet too many children are unable to benefit from it because diagnosis comes too late," the MP said.
Right after Teddy's death she secured a public committment from Sir Keir Starmer to review the matter.