Durban – Tebogo Mphahlele’s parents always thought he was different.
As a child, he would bruise easily from the slightest knock or bump. Minor cuts and scrapes would bleed heavily and he would bruise occasionally on his wrists, elbows and knees.
“They knew something was not right but didn’t know what it was,” said Tebogo, 33, an administrator for a pharmaceutical company in Johannesburg. “They resorted to carrying me on their backs to keep me from hurting myself.”
At 10, while visiting a family friend, he fell and hurt his knee, which swelled alarmingly. He was taken to hospital and diagnosed with Severe Haemophilia A.
His life changed.
He had a diagnosis, which was good, and he could start life-saving treatment, but he also had to face the fact that haemophilia would be a part of his life for ever.
“Our family knew nothing about haemophilia but getting a diagnosis was a relief for my parents. I was introduced to other patients with the condition and I realised I was not the only ‘odd’ child. I had to learn how to avoid getting bleeds and how to treat them. I was told that if I did not look after myself, hospitals would be my second home and I might even die.”
The Mphahleles are typical of many families who have no or little knowledge of haemophilia, an inherited blood disorder in which the blood does not clot normally.
Many people think that when a person with haemophilia is cut, blood spouts profusely, but it does not. The most common bleeds are those into the joints, especially the knees, elbows and ankles, which can cause discomfort and pain. Untreated, the bleeds can cause severe damage to the joints which can lead to internal swelling and inflammation after repeated bleeding episodes.
Today, Tebogo lives life to the fullest – with caution.
“I don’t participate in contact sport but I can do anything I set my mind to. I exercise regularly and on Saturday, I will take part in the Changing Possibilities in Haemophilia walkathon in Joburg.”
Approximately 1 in 1 000 people in South Africa suffers from a bleeding condition and since the implementation of the national Haemophilia Programme in 2000, care of sufferers has improved. But challenges within the health department impact on service delivery and access to treatment products, says Dr Chris Sutton, chairman of the medical and scientific Council of the SA Haemophilia Foundation (SAHF).
“Most people with bleeding conditions remain undiagnosed and suffer the consequences,” he says. “Cases of children dying resulting from head bleeds continue to occur.”
Dr Yasmin Goga, a haematologist at the paediatric haematology oncology unit at Inkosi Albert Luthuli Central Hospital in Durban, says bleeds in the head can be life-threatening.
“Without early treatment, an intracranial bleed is fatal, as bleeding into the brain will continue. Early aggressive treatment, within a few hours, with replacement of the missing factor in the blood is critical to these patients’ survival,” she says.
“A large bleed into the gastro-intestinal tract or urinary tract can also result in shock and death.”
At the other end of the spectrum, patients with mild haemophilia are generally missed, unless there is severe trauma, surgery or dental treatment.
“Most patients with severe haemophilia will have bruising at around one year and have their first joint bleed by the age of two. As it is a rare disease it is often not recognised by health care providers. In some cases, health care workers may view the multiple bruises as suggestive of non-accidental injury (child abuse).
In more rural areas, children often present, after several years of recurrent bleeds, with abnormal and damaged joints, resulting in disability, as families either fail to access health care facilities or the condition is not diagnosed. In certain cultures the mother and child may be regarded as being bewitched.”
Patients with severe haemophilia lack either factor 8 or factor 9 and bleed spontaneously. In 65 percent of cases, the mother is a carrier of the gene that causes haemophilia, from either her mother or her father, if he has the disease.
“As it is passed on from the mother to her sons in 50 percent of the cases, blame is usually attributed to the mom,” says Goga.
Judy Butler, operations manager for the South African Haemophilia Foundation, has a son Mark, 47, who has severe haemophilia.
“I didn’t know I was a carrier and I didn’t feel guilty, though I believe some mothers do,” she said. “When Mark was small, I felt anxious and over-protective. But, as mothers, we learn the fine line between being protective and letting them live as normal a life as possible. I learnt a lot from contact with other mothers. We are all helicopter mothers.”
John Bradley, chairman of the Haemophilia Foundation, Central, in Gauteng, and his wife Erica, were also caught unawares.
Their son, Kieran, 9, exhibited unexplained bruising at about six months. Tests confirmed severe Haemophilia B: he naturally has less than 1 percent of factor 9 in his blood – a person without haemophilia has between 50 and 150 percent.
“There was no history of haemophilia in my wife, Erica’s, family, and no warning of a genetic condition,” he said. “Most internet searches yielded stories about contaminated blood products and their effects on haemophiliacs.”
John says Kieran is fortunate in that he receives regular treatment that protects him from bleeds.
“Not everyone is that lucky. Some people are undiagnosed and receive no treatment. We have brought Kieran up to believe he can do anything he wants. We do not allow him to do rugby or boxing, but he is a budding cricketer. He also participates in swimming and competitive dancing.”
Treatment of haemophilia involves replacing the missing factor (either factor 8 or 9) through an infusion. Injections may need to be given twice daily or daily for a few days. Treatment is given “on demand” or to prevent bleeds, at hospital, doctor’s rooms or at home.
Parents, and eventually patients, learn how to administer the factor, and haemophilia nurses play a vital role.
Anne-Louise Cruickshank, the haemophilia nurse co-ordinator in the Western Cape says the diagnosis is a shock initially, but as time goes on and the family is educated about the condition, most manage it well.
“It is one of the most highly treatable genetic conditions and many people with it go on to lead full and productive lives,” she says.
“They carry a pack of medication with them at all times so that if they have a bleed they can treat it.”
“The outlook for a child born today with haemophilia, compared to 15 years ago, is vastly improved,” says Goga.
“Provided there is early recognition of the disease, as well as acceptance by parents and adequate support to ensure the child obtains the care he requires.”
* April 17 is World Haemophilia Day.
* For more information contact the South African Haemophilia Foundation at 011 787 6710 or visit www.haemophilia.org.za.
Haemophilia facts
It is an inherited disorder in which blood does not clot normally
It almost always affects males, while mothers carry the gene that causes it
A small cut will not cause severe bleeding - internal bleeds are more serious
Only half of an estimated 400 000 people worldwide have been diagnosed
An estimated 1 in 1000 people has a bleeding disorder but 75 percent receive inadequate treatment or no treatment.
Only a few facilities in South Africa offer treatment and many professionals do not understand the disease.
Symptoms
Easy bruising in childhood
Spontaneous bleeding (particularly into the joints and soft tissue)
Excessive bleeding following trauma or surgery
Treatment
Prevention – An injection of the deficient clotting factor two or three times a week can keep clotting levels high enough to prevent spontaneous bleeding.
On demand therapy – treating a bleed when it occurs. This can be done at home, doctor’s room or, if necessary, in hospital.
Daily News