Teenager diagnosed with 'horrific' rare condition after doctors first thought she had growing pains

Abria was first taken to her GP with what was thought to be growing pains but it turned out to be something much more serious. Credit: Media Wales

A teenage girl who was initially thought to have growing pains was later found to have a progressive illness which stops her walking, talking and even breathing properly.

Abria Lewis, 15, from Cardiff, was a keen school athlete and swimmer before she was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP), at the age of 10.

CIDP is a rare, degenerative auto-immune disorder and means Abria has had to give up most of her passions almost overnight and is now dependent on her family.

After living with and managing the condition with regular treatments for five years, the teenager relapsed, with her CIDP worsening from stage two to stage three. This means chemotherapy is now the only treatment option left.

'Her brightness and love shines through'

Despite this, her mother Esther Lewis said Abria has demonstrated extraordinary inner strength and is "more than resilient".

She added: "She has picked herself up over and over again. Her brightness and love shines through that beautiful smile.

"She never demands, makes a fuss. She never asks 'why me?'"

Abria has had to give up things like swimming and taking part in sports because her illness is so debilitating. Credit: Media Wales

Esther said in April 2018 Abria started complaining of pain in her right upper arm and shoulder, which went on for a week or two.

"I took her to the GP, they said it was probably growing pains and to give her Calpol. We did this and there was no change," Esther recalled.

Within a week, both of Abria's arms felt heavy and weak and by the following month, she was finding it hard to do everyday tasks.Esther said: "She was finding it difficult to do things like clean her teeth, brush her hair, and do up zips and buttons. Again I took her to a GP who referred her to a paediatric consultant.

"We were put on a waiting list. By the middle of May, Abria was finding if difficult to walk, had heavy legs and was extremely tired."

Abria's mother remembered one trip to the park in which the extent of her daughter's illness became apparent. Esther described how Abria "literally fell like Bambi to the floor" after trying to run.

Sadly, her illness progressed even further.

"Her arms had deteriorated and I was having to feed her," Esther said.

"She was finding it difficult to swallow, her voice had changed, her energy levels were ridiculously low and she had lost an extreme amount of body mass.

"I made an appointment to see the GP and an osteopath, but again we were told it was growing pains and nothing to worry about."

Esther said Abria's illness means she suffers with limb weakness, muscle wasting, memory loss and reduced development and growth. Credit: Media Wales

Abria then deteriorated further in the following few weeks and became so weak that she could not get out of bed.

"One morning I was getting ready to go to work and Abria still hadn't got up," Esther remembered.

"I was shouting for her to hurry up and she didn't answer. I went up the stairs and she was lying in bed, very still but crying.

"I asked her what was wrong, and she told me she couldn’t move. Her legs, arms and body wouldn't lift her up."She was frightened. I called for my husband and he carried her out of bed and downstairs. We sat her on the sofa, helped her to stand, and supported her to walk.

"I immediately took her to A&E. We were told it was a spasm and she would be okay. But that evening she could not hold her knife and fork, chew or hardly swallow her food. Her breathing was different and she had to be carried from A to B."

Abria's family decided to take her to London to see a paediatric neurologist privately.

Esther said Abria "is often branded a drama queen or the on/off wheelchair girl" because little is understood about the illness. Credit: Media Wales

Esther said in London, Abria was taken for tests at Great Ormond Street Hospital and was diagnosed with Gillian Bare Syndrome (GBS).

She stayed in hospital for around four weeks and underwent intensive rehabilitation and physio before being sent back home to Cardiff.

It was only two weeks later that Abria found herself back in hospital, having relapsed. Extensive tests were carried out by the University Hospital of Wales where they found she did not have GBS.

They instead diagnosed her with chronic inflammatory demyelinating polyneuropathy (CIDP), a rare, progressive autoimmune disease that affects the nervous system.

Esther said: "To put it simply the disease is winning. The damage it causes is not reversible and this will continue to degenerate rather than regenerate.

"She suffers with severe tremors that affect her daily life and living, fatigue that leaves her in bed for 18-20 hours each day, weakness in legs and arms, muscle wasting, memory loss, reduced development and growth."And that goes without mentioning the mental health impact, losing all that she has known and what she should be doing as a teenager; watching on as all the other kids do what she cant.

"Yet because it is so poorly understood and it is not cancer, she is often branded a drama queen or the on/off wheelchair girl. The treatment by others that she has had to endure, as well as this disease, has been horrific."

Abria's mother said it feels like the disease is out of control and she fears "long-term...irreversible" effects. Credit: Media Wales

Esther said the current drugs Abria is on do not stop the disease and in recent months, they have even stopped managing it, with symptoms "creeping back in after treatment".

She added: "This disease has taken so much away from her at such a young age, and she has had to deal with so much loss, so much change, pain and fear.

"It would be difficult for an adult to have to come to terms with this illness, let alone a kid."Her auntie, Esme Addams, has now set up a fundraising page in the hope of raising enough money to give Abria some "precious memories" before she becomes too unwell to enjoy them.

She said: "When we look back memories are all we have. I want her to be able to make plans. I want her to smile and have joy. I want her to feel supported and to know that she does matter and people do care."