Thalassaemic narrates how she lives a full life

At 42, Maria Hadjidemetriou is a confident adult and mother to healthy and happy five-year old girl, Julia.

With a successful career in real estate, living in New York, one of the most expensive cities in the world, having wonderful friends and supportive family members, she has a full life. Nothing to indicate her ‘rough childhood’, of being constantly sick and spending many months in hospital, except some facial bone irregularity indicative of her thalassaemic condition.

“I was diagnosed at two and a half, which is quite late for a thalassaemic,” said Maria who was in Abu Dhabi for the 15^th Thalassaemia International Federation (TIF) Conference for Patients and Parents.

“I was diagnosed with thalassaemia intermedia, which is a lesser version but I actually function as a major because I need blood every two weeks,” related the American who was born to Cypriot parents.

“My parents are both carriers and when I was diagnosed they had never heard of it before. We were living in Cyprus and I was starting to be very sick, fatigued, very jaundiced and my doctor in Cyprus misdiagnosed me and said I was only anaemic and to give me calf liver.”

Fortunately, a doctor who went to her village recognised her symptoms and suggested a blood test, which confirmed his suspicion. To get better treatment, her parents took her to a hospital in New York where she has been receiving treatment ever since.

“I started getting transfused, one to two units of bags every two weeks,” she said. A costly treatment where she pays about $1,800 per visit on top of her insurance coverage.

What is thalassaemia? Thalassaemia occurs when there is a defect in the gene that controls production of proteins in the haemoglobin, which can lead to anaemia. Being an inherited disease, chances of developing thalassaemia symptoms increase to 25 per cent when both parents are carriers. Thalassemia can be managed by following treatment plans, monthly blood transfusions and daily expensive medications. The only curative treatment for thalassaemia is a bone marrow stem cell transplant, but only a small proportion of patients are able to find a good donor match, and the procedure is risky. Thalassemia is a major public health issue in the UAE, which affects several families at the social, financial and psychological levels. Regular blood screening campaigns are the best way to help reduce the presence of hereditary diseases in the country. A great deal of scientific data has been documented to show trends of selected genetic disorders in UAE communities, and it is the mission of the Shaikh Sultan bin Khalifa Al Nahyan Humanitarian and Scientific Foundation to improve the quality of life of people and alleviate human suffering. The UAE Government provides free treatment for thalassaemia patients.

“I was a very sick child, I remember the hospital being my home and there were times when I was in the hospital for 30 days straight. My fever would reach 41 to 42 degree C. They have had to sink me in a bathtub filled with ice because the antibiotics would no longer work. It was a rough childhood,” Maria related.

At nine, her spleen was so enlarged due to iron overload that it stopped working and had to be removed. This was followed by the removal of her gall bladder two years later.

At that time, America was so behind in the treatment of thalassaemia compared to Europe, primarily because there were only a handful of thalassaemic patients majority of whom are Greeks, Cypriots and Italians — only 960 across America according to a latest tally — that patients are being seen by resident doctors and not haematologists.

“I heard from these doctors that the patients won’t live a quality life and mortality rate is in the 20s. Doctors do not advice them to be mothers; they are told that they will fracture their bones easily and it will put too much pressure on their organs. It was all negative, negative.”

That was when Maria decided to prove “everyone wrong for having these limitations on us.” And she did. She went on to become a mother after getting her body into shape and her organs healthy. She was also able to nurse Julia for four months, which she enthused was the “best thing in the world.”

“There was a time in my life as a teenager when I didn’t need blood for about eight years, my haemoglobin was eight (normal range is level 10-11). But in Europe, they would never leave a child with eight haemoglobin. They treat thalassaemia intermedia just like a major, which is why I looked more thalassaemic than the majors. Majors got their blood, so their bones grew beautiful. In intermedia, I got the typical overbites, bulging eyes, cheekbones because I was transfused less as a child. I was transfused every three weeks sometimes even four weeks. Sometimes every two weeks depending on how I felt.”

“Right now I keep my haemoglobin above 10,” she pointed out.

Despite her condition, her parents treated her the same as her older siblings who are not thalassaemic. She also has to follow the same rules.

“They did not do favours for me just because I have thalassaemia,” she said. This non-biased approach and her parents’ openness about her condition, at a time when thalassaemia was considered a “cultural thing”, started her talking about thalassaemia at a very young age. “It helped me become the adult, the woman I am now,” she said.

As an adult, an important milestone in her fight against thalassaemia was in getting the US Food and Drug Administration (FDA) to approve Ferriprox, an iron chelator — the only drug available that can remove iron from the heart. After seven years of rallying, Ferriprox was finally approved in 2011.

“In Europe they have had it for 20 years before us…. My friends were literally dying ... I have lost so many friends,” she lamented.

Maria said that all these experiences made her extremely compassionate and passionate about life.

Her daughter Julia is a carrier but Maria is not worried. “I will educate her. It’s not such a bad thing having a child with thalassaemia now because of all the new research. The past 20 years have seen research and results grow by leaps and bounds to give us a better quality of life.”

Maria urges patients to be “comfortable in your own skin because that is the only way you will become responsible adults and succeed in your personal and professional life” and for parents to be their child’s “number one cheerleader.”

As a thalassaemia patient and board member and an executive committee member of the Cooley’s Anaemia Foundation, one of her goals now is to help those afflicted with thalassaemia.

At the conference, Maria motivated her audience to keep a positive mind with thalassaemia.

Using a dial down technique, she taught them how to turn the negative images into positive images.

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‘I have to move forward now’

Twenty five-year-old Manal Hussain Ghulam was diagnosed with Beta thalassaemia when she was six months old.

Manal, who has nine siblings, shares the gene with three of them. Both her parents are carriers of the gene, but were not aware of it until their first thalassaemic baby showed a deformity in her facial structure when she was a year old.

“There wasn’t much awareness (about the gene) back in the day,” said Manal, who is pursuing a course on broadcast journalism at Ajman University.

She said that although only three of her siblings have thalassaemia, all 10 of them are carriers.

From an early age, Manal has had to go for blood transfusions every three to four weeks, depending on her haemoglobin level. The challenge was the absence of a thalassaemia centre in Ras Al Khaimah, where Manal’s family resides.

“The biggest challenge for us was to go for blood transfusions. The injection has to be taken in the thigh and we had to skip school because our thighs would get swollen and we couldn’t move,” she recalled.

Despite having supportive parents, their lack of understanding of the disease left them constantly worried about their children and restricted them from playing sports and other activities.

“Several exhibitions such as these increased awareness about how thalassaemia patients can live normal lives. The only thing they have to do differently is go for blood transfusion sessions regularly,” Manal said.

Despite her condition, Manal said she has lived “almost” a normal life as she had the support of her friends and family.

Manal is determined not to pass on her disease to her children and has made it a pre-condition for her future husband to not be a carrier of the thalassaemia gene.

“I would like to be a successful person in anything I do, and in order to do that, I have to challenge myself. I overcame my disease, now I have to move forward,” she said determinedly.

To her fellow thalassaemic patients, she said that they have to look after themselves and follow their treatment procedure.

“If they don’t, they won’t be able to live normal lives,” she warned.

Manal has been awarded a scholarship by Shaikha Shaikha Saif Mohammed Al Nahyan, Chairperson, Emirates Thalassemia Society and Board Member, Thalassemia International Federation (TIF), to continue her further studies. She also expressed her thanks to the UAE government for providing free treatment for thalassaemia patients like herself.

Manal was in the capital this week to attend the TIF 2013 World Congress and the 15^th TIF Conference to learn more about the latest discoveries made in the research on thalassaemia.

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An emerging complication

Pain is an “emerging complication” for thalassaemia patients, particularly for older patients. As people with thalassaemia get older, they experience more pain, according to Dr. Paul Telfer, Paediatric Haematology Consultant at Barts Health NHS Trust, UK.

Dr Telfer cited a study conducted in the UK to illustrate his point.

“Among patients over 35 years of age, 50 per cent or more said that they experience pain that affects their quality of life… (while) the younger patients were not as much,” he said.

The study noted that 80 per cent of the patients experienced pain in the lower back. Other complaints include headaches and pain in the hips, arms, abdomen and chest.

Dr. Telfer was speaking at the 13^th edition of the Thalassaemia World Congress and the TIF (Thalassaemia International Federation) Conference 2013, held in Abu Dhabi for the first time under the patronage of General Shaikh Mohammed bin Zayed Al Nahyan, Crown Prince of Abu Dhabi and Deputy Supreme Commander of the UAE Armed Forces.

Thalassaemia is a hereditary blood disorder in which the body makes an abnormal form of haemoglobin, resulting in excessive destruction of red blood cells, which leads to anaemia.

According to Dr Telfer, the cause of back pain is not entirely clear although this is “probably related to chronic iron overload”.

Different forms of treatment available for thalassaemia patients include psychological therapies, specifically cognitive behaviour therapy; exercise and fitness; complementary therapies such as acupuncture and massage; and pain medications.

He also suggested getting help from rheumatologists and orthopaedic surgeons, and a possible disk replacement for chronic back pain.

Despite pain being common among thalassaemia patients, it is not, however, the main factor affecting their quality of life, according to Dr Telfer.

“There are other things like physical functioning, social functioning and emotional (soundness),” he pointed out.

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