Mother's heartbreak after finding her baby has rare incurable condition

Mother's heartbreak after finding her baby has rare incurable condition

Louise Knaggs, from Haxby, with baby Blake, who suffers from mucolipidosis

Blake Knaggs with mum Louise and cousin Luna Ogden at home in Haxby

Blake with his mum Louise and aunt Joanne Addinall, who is organising events to raise money and raise awareness of Blake’s condition

Tests have showed Blake suffers from rare Mucolipidosos II ML2

First published in News
Last updated
by

A MOTHER has told of her heartbreak after discovering her baby son has an ultra-rare genetic condition that will cost him his life.

Louise Knaggs, of Huntington, York, said her first child, Blake, appeared fit and well when he was born at York Hospital last December.

"It was the best day of my life," she said. "My husband Paul and I had been trying for a baby for a couple of years and we were over the moon."

But earlier this year she noticed Blake was feeding poorly and failing to put on weight, and she took him to A & E. He was admitted and scans and X-rays showed he had an enlarged heart and shadows on his lungs.

She said he then underwent genetic tests which eventually showed he was one of only 57 children in the UK who had ever been diagnosed as suffering from Mucolipidosos II ML2, (MPS). He has inherited the condition from his parents, who are both carriers, which gave him a one in four chance of having the disease.

"Paul and I were absolutely devastated when we were given the news," said Louise, 33. "We were heartbroken.

"The condition is incurable and he has a very poor chance of reaching his fifth birthday."

Now the couple and their friends and relatives are launching a drive to raise awareness of his condition and raise funds for research, which they hope they might prolong Blake's life but also help other children born with MPS.

Louise's sister Joanne, of Haxby, has set about organising an auction evening and raffle at Haxby Sports Club on November 14, the proceeds of which will go to the 'Wicked Genes' appeal, run by the Society for Mucopolysaccharide Diseases.

The charity supports people affected by MPS and other related diseases and improves their lives, promotes research into the condition and increases public awareness of it.

The charity says MPS diseases are caused by a missing enzyme which means the body can't break down certain structural molecules. These accumulate in cells, causing progressive physical disability and affecting many of the major organs.

Joanne said: "Sadly, due to its rarity, little is known about this condition. We have just about come to terms with the fact that there is very little we can do to save Blake, as there is no known cure, but what we can do is to raise awareness of his condition and raise as much money as we towards further research."

She said she had already contacted 250 businesses to ask for prizes, and had met with a good response.

She added that next year, she and Louise were planning to walk Yorkshire's Three Peaks. "I'm also planning to throw myself out of an aeroplane - with a parachute on!" she said.

*Anyone wishing to donate items for the raffle and auction should email blakesgenes@outlook.com, or call Joanne on 07730 384732.

Comments (2)

Please log in to enable comment sorting

12:17pm Thu 21 Aug 14

BethFoxhunter96 says...

That is so sad. Well done to the poor mum trying to make the best of the situation.
That is so sad. Well done to the poor mum trying to make the best of the situation. BethFoxhunter96
  • Score: 35

4:40pm Thu 21 Aug 14

Digeorge says...

Having a genetic condition isn't easy, I hope too that you network on Facebook to find other sufferers of the condition. I know this has helped me as an adult. Your lives will be changed forever whatever the prognosis.

You seem to have a good support network of doctors who've actually identified it and accepted it, I hope this continues for you.

One thing I would add is that given the rarity, I hope that the vulnerable child signposting takes place in A&E so that you are not falsely accused that you are admitted to the ward and dealt with appropriately by the team who know you.

Could I also suggest you contact the Genetic Alliance UK group.

Good luck
Having a genetic condition isn't easy, I hope too that you network on Facebook to find other sufferers of the condition. I know this has helped me as an adult. Your lives will be changed forever whatever the prognosis. You seem to have a good support network of doctors who've actually identified it and accepted it, I hope this continues for you. One thing I would add is that given the rarity, I hope that the vulnerable child signposting takes place in A&E so that you are not falsely accused that you are admitted to the ward and dealt with appropriately by the team who know you. Could I also suggest you contact the Genetic Alliance UK group. Good luck Digeorge
  • Score: 9

Comments are closed on this article.

Send us your news, pictures and videos

Most read stories

Local Info

Enter your postcode, town or place name

About cookies

We want you to enjoy your visit to our website. That's why we use cookies to enhance your experience. By staying on our website you agree to our use of cookies. Find out more about the cookies we use.

I agree