Nathan (5) in desperate need to save his arm from amputation

At age five, Nathan Nel has had at least five major invasive deep tissue operations due to the world’s rarest disease: progressive osseous heteroplasia (POH).

The parents of this brave youngster from Verwoerdpark have come to terms with the fact that amputation may be the only way to stop infection if this condition continues to worsen.

There are reportedly fewer than a hundred people in the world with POH. This is described as a progressive bone disorder in which bone forms within skin and muscle tissue. It usually becomes apparent in infancy with skin ossification, which progresses to the involvement of subcutaneous and deep tissues, including muscle.

After having done genetic tests and seeing every specialist in the country, his family opted to send his blood work to Ireland and the United States.

Recently, Nathan had to draw six tubes of blood for testing, which he will need to do for the next six months. His family desperately needs help to get a diagnosis from US specialist Dr Frederick Kaplan. He will offer medicine to possibly delay or stop the growth of bone in Nathan’s right shoulder.

Tough journey

Nathan’s father, Leonard, said they desperately need help as weekly physiotherapy is expensive and uses up their medical aid savings quickly.

“We are in counselling as a family to deal with the fact that we just don’t know what his future holds. We understand there is a real possibility that he may lose his arm, as amputation will be the only way to stop infection if it continues to worsen,” he said.

He told the RECORD they have lost their home due to not being able to keep up with their son’s expensive medical costs.

“We are not a family with the means to pay for all he needs. We have a very small business that barely covers our expenses. We share a home with my wife’s parents, and without them, we would be much worse off. All we care about is giving Nathan a chance at a normal and healthy life. We pray for this every day all day,” said Leonard.

Miracle baby

The five-year-old is best described by his parents as a miracle baby.

Nathan was born prematurely and was not breathing during his birth. According to his mother, Desiree, a doctor had to resuscitate him but in the process, his lung was damaged.

“They had to insert a tube in his little chest to fix it. His spirit never gave up. In ICU we could not hold him, we only touched his little hands. His heart valve was not working as it should and he was placed on medication to fix it,” she said.

She said they prayed every day for him as he had many infections and his condition kept deteriorating.

“He couldn’t take in any milk as his little stomach had blood in that had to be drained. He was in ICU for a month. When he finally came home he weighed 1.8kg. We found out he had pyloric stenosis. He had to have an emergency operation to repair his little stomach. At this time he weighed 1.2kg and was barely one and a half months old,” said Desiree.

Constant pain

From birth, Nathan’s parents started noticing little ‘rice grain’ type of bumps on his collar bone.

Dr Marile Kleinhans, a paediatrician at Mulbarton Hospital, then ran some tests and noticed more spots on the right-hand side of his body.

“We noted it was growing and changing. We then went to few specialists who could not identify it. He found it hard to move his right arm. A rare disease specialist and plastic surgeon said this can be removed; he again had major surgery on his shoulder and hand,” said Leonard.

“After a few months, it started growing back and has not stopped, instead it worsens. It has now fused his shoulder to only a 40 per cent movement range.

“The bony growth breaks through the skin then breaks off. We wish we could take his pain away. The worst part about this illness is that it gets misdiagnosed for a cancer type of growth,” he said.

He was only diagnosed with POH three weeks ago.

Covering expenses

Nathan will need special educational help as he is right-handed and has to be taught to do everything left-handed. The funds will assist with medical, educational and therapeutic help.

“The funds will first be used to go see Kaplan get guidance from him on medical treatment, physical and emotional treatment,” Leonard said.

The funds will help pay for the treatment and will be used to set up a fund for him for future education and help.

Fund-raiser

Leonard has had to open a BackaBuddy account with which he has been receiving overwhelming response from the community.

“I had to open this account because I desperately need assistance.

“We stand at about R100 000 of donations, and we have set a target of R500 000 to try and cover everything,” said Leonard.

With the upcoming fund-raiser, he told the RECORD he has knocked on many doors.

“We are truly grateful for the help we have received from The Playhouse for hosting this event for us. I have contacted hundreds of companies to assist but not one has responded to my emails. I need this event to advocate for other special children with rare diseases,” said Leonard.

He assured that proceeds from the event will also be donated to other organisations.

Should you wish to assist towards this cause, contact Leonard on 079 067 1551 or at leonard.nel@dreamict.co.za

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