Meet the siblings who can't eat CHOCOLATE - as it could cause irreversible BRAIN damage

TWO young sisters are unable to consume sweet treats due to heartbreaking condition that could have devastating effects on their health.

 

Sisters Kathryn and Ruby are unable to eat chocolate

 

Eating chocolate is a pleasure many children take for granted, but not for two siblings, Kathryn Connolly, 10, and sister Ruby McKenzie, 7, who both suffer from rare genetic condition phenylketonuria (PKU).

It is so potentially harmful that their mother Sarah refuses to let them have so much as a single chocolate.

Sufferers are missing an enzyme which breaks down phenylalanine, an amino acid found in all proteins and some artificial sweeteners, and must follow a low-protein diet for the sake of their health. 

The condition means everyday delicious items and childhood favourites - such as ice cream, pizza, burgers and cake - are permanently off the menu because they can cause phenylalanine to build to toxic levels in the body, causing permanent brain damage, learning disabilities and even EPILEPSY. 

Meat, fish, eggs, dairy, soya, legumes, wheat, nuts, seeds and sugar-free foods and drinks are also banned.

Their condition means they are even unable to have children's medicines - because they contain the sweetener aspartame. 

Kathryn and Ruby, from Newcastle, developed PKU because their mum Sarah, 35, was unknowingly a carrier of the mutated gene which causes it.

John, 47, who is Kathryn's stepdad and Ruby's biological father also suffers from PKU - but as he is not a blood relative of Kathryn he did not pass it on to her.

Her biological father does not have PKU but is also a carrier.

 

Mum, Sarah, has to think creatively on how to feed her daughters

 

Mum-of-four Sarah, a conference organiser, said: "It can be so hard as a mum.

"It's heart-breaking when they are asking for something - like chocolate - and I know I can't let them have it.

"Part of me feels terrible and guilty about it but I know I am doing the right thing and if I was not so strict that is when there could be problems.

"Some people think I'm just being a fussy mum and say 'one chocolate won't hurt' but they don't understand how serious it can be." 

PKU is one of the conditions picked up by the Guthrie Test - a newborn heel prick screening devised in the 1960s - which meant both Kathryn and Ruby were diagnosed as babies. 

Before this screening was developed the inherited disorder, which is most damaging in childhood, would leave sufferers unable to WALK and TALK and most would be institutionalised before dying at a young age.

PKU affects one in 10,000 people in the UK but Sarah, who is also mum to six-year-old Daisy and Lewis, 13, said most people don’t have a clue about the condition.

 

Many foods are banned for the girls

 

She added: "It was such a shock when the doctor told me - I had this tiny little baby, and I was told she could get brain damage from something as natural as feeding her, that she couldn't eat protein.” 

"I couldn't get my head around it at all. It sounds silly, but I remember crying my eyes out at the thought Kathryn could never have a bacon sandwich.

"I was so naïve back then - but now we try to be as positive as we can. 

"I always tell the girls just because they have PKU it does not stop them from doing anything in their lives." 

Fortunately, the two sisters are able to take safe protein supplements that allow their bodies the protein they need to develop properly.

They can also eat foods which contain very small amounts of protein - such as potatoes, baked beans and broccoli.

They can eat unlimited amounts of free foods - such as most fruit and 

  

Sarah has come up with PKU inspired recipes and shares them on Facebook

 

As well as taking safe protein supplements, the girls must have regular checks to make sure their phenylalanine levels are safe, and their diet can quickly be adjusted to bring these back to safe levels if they are too high. 

Despite Kathryn and Ruby having to take their own food to restaurants, school, parties and on holidays, Sarah said the diagnosis has opened up a whole new world of food for her family and her daughters remain positive and adventurous with their food tastes.

The condition has spurred Sarah on from a self-confessed kitchen novice to whipping up her own inventive PKU-friendly recipes which she shares with hundreds of fans online. 

Sarah said: "I was determined my daughters would not have to put up with boring, bland food.

"It has been eye-opening for all of us - now I am a much more creative cook, and have lost weight in the process.

"Kathryn is really adventurous and loves anything with spice. Both the girls are learning how to weigh out and cook their own low-protein dishes." 

Kathryn said: "I can't eat things most people take for granted, but I am very blessed and lucky to live in a time I can lead a completely normal life.

"My parents are awesome cooks - I have a great selection of home-cooked food every day and my mum makes a wide variety of tasty food.

"At the moment, I am just happy being a regular 10-year-old kid with a special diet, and it doesn't stop me from doing a thing." 

For more information on PKU, go http://www.nspku.org/ or follow Sarah’s Facebook group ‘PKU - be inspired.