Bridgend baby born with condition only 1,200 other people have in the world
A Bridgend baby has been diagnosed with a rare and life-changing condition only 1,200 other people have in the world after her mum noticed a rash when she was born.Chloe Skelly, from Bridgend, had her baby daughter Emilie-Rose at 39 weeks, after reduced foetal movements were recorded and Emilie-Rose's heart rate began to drop.An emergency C-section was performed, and Emilie-Rose was born in June 2021.
Emilie-Rose was born with a rash, which was originally believed to be sepsis. A few days later the rash flared up significantly.
"It flared up really bad and started to blister, so I ended up taking her into the hospital."At this point, a specialist diagnosed Emilie-Rose with incontinentia pigmenti, a rare genetic condition that affects only 1,200 people worldwide.The condition is initially characterised by a skin rash, however, Chloe said it can later cause her to "lose her hair, have nail and teeth problems, lose eye-sight and also start up seizures".As well as this, the five-month-old has been diagnosed with pulmonary hypertension, a life-threatening condition, after being born with a hole in her heart.
The 22-year-old mum said the last five months have been a lot to digest as a single mother."She's got to have loads and loads of different medication for the rest of her life in the hope that she responds to it, otherwise the condition could shorten her lifespan."I've been really upset about things but I haven't really had a chance to process it because it just seems to be hospital, hospital, hospital all the time."Since her diagnosis, Chloe and Emilie-Rose have travelled to Great Ormund Street Hospital in London to see a specialist for incontinentia pigmenti, who she will now have to visit yearly for checkups.Emilie-Rose will also have monthly visits to a hospital in Bristol which is their nearest centre for treatment for her pulmonary hypertension.
Despite Emilie-Rose's tough start, Chloe says her daughter is a complete mummy's girl."She's a really happy baby, you wouldn't think anything is wrong with her, though she is very clingy with me."Looking to the future, Chloe says she is just making the most of motherhood and said: "It has been really hard but my thing is I always take every day as it comes and we're just making as many memories as we can. I'm not taking one minute for granted."Given the cost of specialist appointments as well as the travel, Chloe has launched a fundraiser to assist with the costs.