Sat | Mar 24, 2018

Long odds strike Rafael - Jamaican toddler among one-in-a-million live births with rare leg deformity!

Published:Sunday | April 9, 2017 | 12:00 AMErica Virtue
A brave mother, Sherika Harris (right), plays with baby Rafael while he sits in his father’s lap at their home in Gordon Town, St Andrew.
Father Atai Lee (left) and mother Sherika Harris with baby Rafael.
Sherika Harris (left) shares details of the one-in-a-million disease that has struck her son Rafael, who seems very interested in the conversation.

Rafael Lee is not your ordinary toddler. The 17-month-old is extraordinarily au fait with technology, finding and playing games on his mother's smartphone and dancing to the music accompanying some of the games.

Clearly adored by his parents Sherika Harris and Atai Lee, Rafael goes from the lap of one to the other with ease, knowing he will not be rejected by either.

After seating himself com-fortably in his mother's lap he smiled with the confidence of a boss around the house when our news team visited the family recently.

But the little boss was born with a rare illness called Tibial Hemimelia (TH) - a condition that manifests as a shortened leg with knee and ankle deformities.

Rafael's right foot, from the knee to the ankle, shows the deformity which, according to his mother, as told to her by members of the orthopaedic team at the University Hospital of the West Indies (UHWI) where he was born, is a one-in-a-million occurrence.

By current population numbers, no more than three children in Jamaica currently have the abnormality, and TH can attack either or both legs. When it attacks legs it's called 'bilateral tibila hemimelia'.

According to the Paley Institute, which has revolutionised treatment for children with this condition, it is usually associated with deformities of the foot. "It can be diagnosed by ultrasound as early as 16 weeks gestation," says the institute of this rare disease.

But the one-in-a-million shot has left Rafael's parents facing a US$250,000 bill for three surgeries and rehabilitation, which would save the leg and allow their son to throw his weight around more.


Not losing hope


Several letters to corporate Jamaica for financial assistance have yielded few responses to date, but Sherika is not losing hope and she is not ascribing blame.

According to Sherika, throughout her pregnancy, she followed her doctor's orders and nothing was detected with the foetus despite several ultrasounds.

She told our news team that she noticed the abnormality in her baby's leg shortly after he was born.

"He was delivered by C-section at UHWI on October 22, 2015. Two days later, I noticed that something was wrong with his leg. The orthopaedic team came by and said they would do an X-ray.

"The doctor who delivered me said she did not know what the condition was but she would research it. A week later, the X-ray was done, and the diagnosis given. We were told to see UHWI orthopaedic surgeons," added Sherika.

The first-time mother said many members of the hospital's medical team admitted that they had not seen the condition at all and some did not even know of it.

Rafael was fitted with a leg brace before he was released from the hospital but it was removed two weeks later when he went for his first visit.

"The medical team told me amputation was their preferred choice but his paediatrician referred us to Shriners Hospital in Florida," said Sherika.

The paediatrician also told the family that a similar case was successfully treated in Iran.

The family has since contacted the Florida-based hospital, and Sherika said they were told that while it can do the amputation for free, the prosthetics and medical bills carry a heavy price tag.

But for the parents, amputation would be their last choice and they are trying to work with Dr Dror Paley of the Paley Institute to arrive at a solution for Rafael that does not include that option.

"The first thing can't be to just chop off limbs. We just can't be stuck in the same old mode of amputation," said Sherika.

His father is also adamant that amputation is not the preferred option, and while they seek help for Rafael, they also want to make Jamaicans more aware of the TH, even if there is just a one-in-a-million chance of another baby being born with the disease on the island any time soon.

"This for us is not a sad story. We see this as an opportunity to bring awareness to the condition and hope that a Dr Paley, for example, may be able to partner with doctors here and in the Caribbean. If this expertise is available, I don't see why our doctors here can't partner with him," said the worried father.

He argued that treating Rafael could provide an opportunity for Dr Paley to visit Jamaica and other countries in the Caribbean to offer his services.


What’s wrong with Rafael?

Hemimelia is a developmental anomaly characterised by the absence or gross shortening of the lower portion of one or more of the limbs. The condition may involve either or both of the bones of the distal arm or leg and is designated according to which is absent or defective, as fibular, radial, tibial, or ulnar hemimelia.

If you want to help Rafael ...

A GoFundeMe account – ‘Help Save Baby Rafael’s Leg’ – has been created to raise money to assist the boy with the impish smile, who fearlessly creeps and climbs around the house. There is also an account #5502458247 at Sagicor Bank Tropical Plaza for anyone who wants to contribute.