Baby from Merthyr Tydfil born with rare genetic condition with no cure

The parents of a five month old baby from Merthyr Tydfil are having to contend with the knowledge they won't see her grow up as she battles a rare, life limiting disease.

Indie Pearl Lewis has Niemann-Pick, which is an inherited condition that affects the body's ability to metabolise fat.

It can affect the brain, nerves, liver, spleen, bone marrow and in more severe cases, the lungs.

The disease mostly affects children. Some people live into early adulthood with it but some do not reach school age.

Indie's parents, Sophie Elliott and Sam Lewis, don't know how long they have with their daughter, who started showing symptoms with the condition when she was four weeks old.

Speaking on Indie's parents behalf, Sophie's sister, Stacey Elliot, said: "For any parent to be told their child is going to pass away is absolutely cruel, but also being told they don’t know when this disease is going to take over her little body is even worse.

"Everyday they look at her beautiful smile and they wonder will it be their last time."

Until Indie was diagnosed with the condition, she was thought to be experiencing viral infections, reflux, colic and even a cows milk allergy.

The community surrounding the Merthyr Tydfil family are pulling together to raise funds to support the family through Indie's hospital stays and visits.

Reflecting on the time that the baby first became ill, Stacey described how Indie was presenting with prolonged jaundice and had a swollen liver, with doctors describing her as "failing to thrive" and "wasting away".

She was taken to Birmingham Children's Hospital for specialist tests, which came back normal. However, it would be a further six weeks before the family received the results of genetic testing in May.

Stacey explained: "They stayed a week at Birmingham Children’s Hospital and met with the metabolic team who said they would only be in touch again if it was bad news, which they told them after examining Indie that she was not presenting any signs of a metabolic disorder.

"After a few weeks they received an appointment with a metabolic consultant, at this point Sophie and Sam both knew that there was going to be some type of diagnosis but they did not expect it to be this rare."

Stacey lives with her sister Sophie, and said watching her and Sam go through this has been "heart wrenching."

She added: "From the day Indie was born Sophie and Sam both knew something wasn’t right, they fought so hard to get her diagnosis because most doctors have never heard of this disease."

There are three types of Niemann-Pick, and Indie has Type C.

In Indie's case, the condition has already manifested in a swollen spleen. There is no cure for the disease, only treatment to manage the symptoms.

Stacey explained that the treatment "doesn’t cure the disease but it slows down the neurological symptoms. They would also only give this medication to Indie if professionals think that this would improve her quality of life as it comes with a lot of side effects.

"When Indie presents with any neurological or development symptoms they will have to apply for this medication through Welsh commissioners and individual funding request as Miglustat is not available in Wales.

"The only way we are all coping with everything is in the hope that one day they will find a cure."

"Having a newborn and being parents for the first time is really hard for anyone, emotions are everywhere, lack of sleep and anxiousness takes it’s toll on you especially with a unwell baby that wouldn’t settle at all. You are sometimes made to feel like a overly paranoid first time parent.

"It was absolutely devastating when she had the diagnosis. Sophie asked the consultant if it was anything because of them, which the consultant reassured them that it is completely not their fault it is a genetic condition which is present at birth and will be there for her life."

Stacey has said that she is proud of her sister and her partner for how they have handled Indie's diagnosis and the hospital visits.

"They have so many hospital appointments, it affects their daily life. Sam is working fulltime to provide for hospital visit costs and everything Indie needs as they have had to travel a few times and pay for accommodation. Which means Sophie is also then feeling a lot of responsibility is relied upon herself.

"It’s only natural as a mother to feel although you aren’t doing things right or is there more you could be doing, but watching Sophie breakdown after this diagnosis has been hard on the whole family. We want to help make everything ok for them but all we can do is support the three of them in whatever comes their way.

Stacey added: "We really are in shock at how much our community has come together and so grateful. A massive thank you to Daleon fitness for choosing to do their five marathons and raise money for Indie. Sophie and Sam are hoping to be able to attend the event with Indie.

"Lots of local people and businesses have already raised a lot of awareness and donations that none of us as a family were expecting. The support we have had already has been amazing."

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