10-Year-Old Girl Suffers From Rare Genetic Disease That Makes Her Bones Brittle Like Glass

A tenacious and brave young girl, Evelyn isn't letting her condition control her life. In fact, she wants to become a doctor when she grows up so she can help other children like her.

Cover image via Monica Chuah/GIVE.Asia

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This is Evelyn Chuah

Apart from her ukulele, she also plays piano and violin in her free time

Evelyn, her mother says, "is tenacious and a brave young girl who doesn't let her disease control her life".

The mother, Monica Cheok, shared that her daughter also excels in mathematics.

"[She has] attended olympiad maths and [is] always selected as a guide to her peers in maths."

The 10-year-old girl suffers from osteogenesis imperfecta, a rare genetic disorder that prevents her body from building strong bones

The condition is also called brittle bone disease.

According to Monica, who is from Petaling Jaya, her bones are extremely fragile and break easily.

In her first four and half years of life, Evelyn has had five falls, 11 fractures that included six spinal compression fractures, one tibia fracture, one fibula fracture, one right femur fracture, one elbow fracture, and one left femur fracture. She went through two surgeries by the time she turned three.

"A small missed step or a light fall could cause her a lot of pain and land her in hospital," her mother said in a public Facebook group, adding that which is why she has to literally watch her every step.

Apart from fractures, Evelyn's physically instability has resulted in multiple falls with some cuts on her forehead as her skin is fragile and tends to tear easily if she falls or knocks on hard surfaces.

The most serious cut she has had required 20 stitches, according to Monica.

The condition has no cure and requires lifelong treatment.

When Evelyn was born, her parents were told that she will never walk. However, she proved the doctors wrong by walking unaided.

Monica said that physical therapy and hydrotherapy has helped in developing her muscles, strengthening her bones density, and ultimately developing her gross motor skills and mobility.

"Evelyn started all sorts of therapies at the age of eight months old. She stopped the therapies at the age of three and a half years old when she was able to walk independently," she shared.

She has to go to the hospital every month for a drug called Pamidronate aka bone juice. This drug has been helping her strengthen her bone density, reducing pain, and most importantly reducing fracture rate.

And by the time she turned five and a half years old, Evelyn was running and hopping.

"It was truly a miracle," Monica said.

The joy, however, has been short-lived as Evelyn's condition worsens.

Due to her fragile bones and loosen ligaments/joints, Evelyn's scoliosis, which has been developing since she was eight-month-old, slowly started to contort and now has a mild S-shape curve.

She has been wearing a body brace to prevent the curve progression of her spinal curve.

Unfortunately, at the age of 10 in October last year and due to her growth spurt, the curve has had rapid progress to over 100 degrees into a life-threatening state.

"The pain is getting unbearable, her ribs are rotated, rib cages are also pressing her lung, and causing her breathing difficulty. She is currently facing a life-threatening event. She's been in bedridden condition since then. Spinal surgery is required immediately to save her life," the mother shared.

Evelyn has also been diagnosed with a heart condition called mitral valve prolapse and regurgitation.

While her parents wish for her to be able to live life to its fullest, she wants to be a doctor when she grows up to help treat other children

However, none of this is going to be possible without spinal surgery to correct her scoliosis.

As her condition is rare and complex, doctors in Malaysia have recommended National University Hospital (NUH) Singapore for her surgical treatment, the mother noted in her post.

Evelyn also needs to stay in Singapore for five to seven months to ensure proper care of treatment for her pre and post-surgery monitoring until she is fit to return home to Malaysia for further routine treatment.

"Due to her chronic pain and immobile condition, both my husband and I are accompanying her throughout this Singapore long stay. Part of our job and the income is impacted during this period. Besides the medical fees, this long stay involves many incidental costs and the high living cost of Singapore," she said.

Monica added that the medical and treatment fees will cost an estimated SGD250,000 (RM773,105).

The family is now relying on the generosity and kindness of strangers to help Evelyn with her medical fees in NUH Singapore

As of this report, people have already donated SGD111,625 of the SGD250,000 sum via an online campaign set up on GIVE.Asia, a website that helps patients raise funds for their hospital bills, etc.

"You may convert your desired ringgit amount into Singapore dollars. Input the SGD amount in the donate column and follow by your particular. The amount will then be charged to your card in MYR, which will be approximately close to your desired MYR donation amount," the mother shared.

According to Monica, all funds raised will be paid directly to NUH for Evelyn's surgery.

Image via GIVE.Asia

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