Suffolk mother wants to raise awareness of son’s rare condition

When Jakob was born with a single crease on both of his palms, the midwife warned his mother this could indicate a health condition.

Lucy remembered she was told to “just bear in mind that could mean something” following her son’s birth nine years ago.

She said it still came as a shock, however, when Jakob was diagnosed last year with Mucopolysaccharidosis type VII (MPS VII) – a condition that the NHS said on average one baby every 10 years is born with in the UK.

The 36-year-old mother from Dennington, near Framlingham, Suffolk, has been keen to share the reality of parenting a child living with this life-limiting condition, to raise awareness and help others going through a similar experience.

“We knew something was different with Jakob when he was born and as the years progressed on it became more apparent,” Lucy explained.

MPS VII is an inherited condition caused by a lack of the enzyme, beta-glucuronidase.

It can affect growth, bone and joint mobility and mental cognition.

“It’s a progressive and life-limiting condition, but he handles it extremely well,” Lucy continued.

“It mostly affects him with his mobility due to a lot of pain and stiffness, but he also suffers from development delay and cognitive impairment.

“It’s only mild, but he is delayed by a few years.”

Lucy said the diagnosis, which they only received in November, was “a huge shock” after waiting so long for an answer.

“The doctors were just unable to figure out what the condition was,” she said.

“To finally hear that there was an answer and a name for it was a huge shock, and to also find out that it was a progressive condition and life limiting – that was the hardest part.

“It’s just something that you have to deal with and come to terms with as you go along.”

Jakob undergoes enzyme replacement therapy and has four-hour infusions every two weeks in hospital to manage the condition.

Lucy said she was extremely proud of her son.

“He smiles through every single appointment and takes everything in his stride,” she said.

“He’s the happiest little boy you could wish for so the diagnosis itself doesn’t affect him.

“He’s a very kind and caring little boy. He’s got a very happy personality, he’s just amazing.”

Due to the rarity of the condition, there is a lack of knowledge about it.

Lucy said due to this she was keen to raise awareness to help other families going through the same experience.

“I know that when we became aware of Jakob’s condition there was no-one out there in a similar situation that we could turn to,” she explained.

“If another child can get diagnosed earlier and start treatment a lot earlier, that would be fantastic.”

The Over The Rainbow Children’s Charity in Suffolk recently heard of Jakob’s story and wanted to offer him, his mother and his six siblings a holiday to spend time together.

In August the family will travel to Devon Cliffs Holiday Park, which Lucy said would be the first time all the siblings have been away together.

The family is looking towards the future and managing Jakob’s condition “one step at a time”.

“We have a lot of hospital visits and the future is kind of unknown as the condition is so rare,” Lucy said.

“We have to follow the lead of the doctors at Great Ormond Street Hospital as they are just fantastic.”