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Will rare disease take another of our sons?

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Seeking West Coast treatment: Young Azenje Smith (centre), has a rare genetic disorder that claimed the life of his brother Na'zyje, seen below. He is pictured with another of his brothers Znari Smith and his mother Laurie-ann Stovell. His family would like to be able to afford to take him to a specialist university medical centre in California that might give him a 50/50 chance of survival.

Jamal Smith wakes up every night with the same recurring dream that he is standing at his son's graveside.

Mr. Smith and Laurie-ann Stovell lost Na'zyje to a rare genetic disorder at the age of 21 months. The couple, now separated, watched their son die slowly over five months, gradually losing control of his limbs and then slipping into a coma.

Three years later, they are about to go through it all over again after Na'zyje's younger brother, Azenje was diagnosed with the same illness. The 17-month-old boy faces a lingering painful death unless he can obtain specialist treatment, and even then he may only have a 50 percent chance of survival.

Despite being born perfectly healthy, Na'zyje and Azenje were both diagnosed with Mitochondrial Disease. There are many forms of the disease, which can attack the brain cells, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas.

What they all have in common is that the mitochondria in cells is unable to burn food and oxygen in order to generate energy, so the cells cannot function normally. The residual food then turns into poison.

On May 31, a cousin of Mr. Smith also lost a two-year-old boy to the rare genetic disorder. Although the family do not wish to be named for matters of privacy, Mr. Smith has now contacted The Royal Gazette in an effort to raise awareness of the disease.

"We've been told this is a first in Bermuda and so are trying to open up people's eyes to this disease," he said.

Azenje's 32-year-old father says the disorder has baffled specialists both in Bermuda and at the Children's Hospital Boston. He says Azenje's last hope now lies with the Mitochondrial and Metabolic Disease Center at the University of California San Diego's School of Medicine, which specialises in research and treatment of the disease.

Azenje started showing signs of the disorder four months ago, when he kept losing his balance and falling over. His head kept rolling onto one side, he developed a rash, and his hands began "locking up", according to Ms Stovell.

"I know he's in pain and sometimes he just won't eat. It is very distressing, and we have no answers," she said.

Mr. Smith said: "The specialists at Children's Hospital Boston say it is a Mitochondrial disorder but they don't know which one."

"His heart rate goes up to 180 on a regular basis. Right now we are just going to relive this all over again, and if we don't get the right help he is going to end up in the same box as his brother.

"Mr. Smith said: "I'm always waking up at four in the morning, and it's always the same dream where I'm at the grave looking at the coffin. It's like Groundhog Day, it never goes away.

"He said: "The doctors have no answers, they just don't know what it is other than being a Mitochondrial disorder.

We're just trying to get this kid to San Diego because he could have a 50 percent chance there, but financially, we are distraught. We are broke."

Mr. Smith, a mason with Fray Construction, and Ms Stovell, a cash escort with Shield Security, are still recovering financially from Na'zyje's illness.

They also lost the family's rented apartment in Flatts, due to the costs of taking two months off work to be by his side at the Children's Hospital Boston. Na'zyje died on May 13, 2005.

Although some of Azenje's medical expenses are covered by BF&M Insurance, his parents still have to spend up to $400 a week on his medication. Mr. Smith said the youngster has to take hundreds of pills every day, crushed up and mixed with PediaSure. They include Biotin, L-Carnatine, Vitamin E, Ascorbic Acid and Thiamin.

Hospital specialists however, have said this is only a temporary measure and that Azenje could develop a tolerance to his medication.

Speaking about the loss of Na'zyje, Ms Stovell, of Flatts, said: "Na'zyje developed breathing difficulties and then went into a coma. Once they put him on life support, he didn't come back."

Mr. Smith, of Pembroke, added: "Once they decline, they decline fast. It can be a matter of weeks. That is why time is of the essence. We could wake up tomorrow and find Azenje might not be walking. We definitely need to raise funds, especially if we have to travel to San Diego quickly."

Ms Stovell and Mr. Smith are currently waiting to hear from the UCSD Mitochondrial and Metabolic Disease Center after informing the hospital of their plight.

"For two of your children to get hit, it's very rare," said Mr. Smith.

"It's really hard because we are going through every day with this child and don't know that just one day, he could slip through our hands. It is very stressful and we have no help coming in. We can't take care of the old debts when we're trying to cope with this now.

"Our heads are pretty much beat up against the wall. We get no rest and sometimes I feel very on edge."

Mr. Smith and Ms Stovell's eldest child Znari is perfectly healthy, showing no signs of the disease, as is Mr. Smith's 13-year-old son Jacori Wolfe.

Ms Stovell said Znari is aware of Azenje's affliction but the six-year-old deals with the possibility of losing a second brother in his own way.

"He knows everything which is going on," said Ms Stovell. "He still talks about the other baby a lot, how he misses him and how he now feels sorry for his youngest brother. The elder son, they were only 13 months apart so they were very close, they were each other's world. Znari was three when Na'zyje died but still remembers him as clear as day."

Mr. Smith added: "Znari has been acting up in school recently and I explained to the teacher last week that what he's going through is possibly affecting him in this way."

Faced with the possibility of losing another son, Ms Stovell said: "We try not to think about it. I've lost quite a few relatives recently, my mother passed two years ago and my first cousin Shaki died last year."

She said she was "very close" to Shaki Crockwell, who was shot and killed on the Railway Trail near Loyal Hill on August 24.

Ms Stovell added: "But losing another son, I don't know if I could go through this again."Mr. Smith said: "I just have to keep telling myself this is not going to happen to my son, not this one."

If anyone is interested in helping Azenje's parents, please contact:news@royalgazette.bm

Mitochondrial Disease:

* A genetic disorder is a disease caused by abnormalities in an individual's genetic material (genome). The four different types of genetic disorders are: single-gene; multi-factorial; chromosomal; and mitochondrial.

*Mitochondrial is a rare type of genetic disorder caused by mutations in the nonchromosomal DNA of mitochondria. These are small round or rod-like organelles involved in cellular respiration and found in the cytoplasm of plant and animal cells. Each mitochondrion may contain five to ten circular pieces of DNA.

* Mitochondrion is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from our consumed food into energy - for essential cell functions. Mitochondria produce energy in the form of ATP which is then used for numerous cell functions.

* Mitochondrial diseases result in the mitochondria unable to completely burn food and oxygen in order to generate energy. This leads to the cells being unable to function normally and so the residual food can accumulate as poison. This then stops other chemical reactions which are important for the cells to survive. The poisons can also act as free radicals, damaging the mitochondria.

* Mitochondrial diseases affect the brain cells, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas. Depending on how severe the disorder is, the illness can range in severity from mild to fatal. Symptoms include: poor growth; loss of muscle coordination and weakness; visual or hearing problems; learning disabilities; heart, liver or kidney disease; gastrointestinal disorders; respiratory disorders; diabetes; increased risk of infection; neurological problems and seizures; thyroid dysfunction; dementia.

* About one in 4,000 children in the US will develop mitochondrial disease by the age of ten. Each year, 1,000-4,000 children in the US are born with a type of mitochondrial disease. For many, mitochondrial disease is an inherited condition which runs in families ie. genetic.

* There is no cure but treatment can reduce symptoms, delay or prevent the progression of the disease. Treatment is individual for each patient and can involve vitamin and enzyme therapies, occupational and physical therapy, diet therapy and antioxidant treatments.