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    Tuesday, April 30, 2013

    Family Tragedy: Rare Disease Deforms Four Children Of Same Parents

    Rare disease deforms four children of same parents

    Experts say four children, Tochukwu, 14, Ifeanyichukwu, 11, Vivian and Marvelous, born to same parents, Mr. and Mrs. Zebulun Onyia-Eburuo, may not live long because of a genetic condition inherited from their parents, known as muscular dystrophy.

    Diagnosis reveal that the type, afflicting the children, is Duchane muscular dystrophy. Muscular dystrophy has several types, depending on the part of the body under siege.
    The condition has no cure while research shows that sufferers die before they attain the age of 19 or 20 years.The very lucky ones may live up to 30 years.

    Due to wrong diagnosis, few cases have officially been reported in Nigeria. However, the condition is a rare disease.

    In the United States of America (USA), three primary federally-funded organisations that focus on muscular dystrophy research include the National Institude of Neurological Disorders and stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Child Health and Human Development (NICHD), yet no cure has been found.

    In 1966, the Muscular Dystrophy Association (MDA) began its annual Jerry Lewis MDA Telethon, which has arguably done more to raise awareness of muscular dystrophy than any other event or initiative. Disability rights advocates, however, have criticised the Jerry Lewis Telethon for portraying victims of the disease as deserving pity rather than respect.

    Consultant Orthopaedic and Trauma Surgeon, National Orthupaedic Hospital, Igbobi, Lagos, Dr. Babalola Olatunji, speaking on the prevalence rate of the disease,said,”We have to appreciate the fact that one out of 3,500 live births usually has it. But, remember it is more commom in male. We’re talking about one out of 3,500 male birth. For female-births, you multiply that by two, that’s about one in 7,000 live births.

    These are the characteristics: by five years, it starts manifesting, ten years later they’re found on wheelchairs. By 30 years, most of them are gone,that’s Duchane muscular dystrophy. It is more severe.
    Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissues.

    In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchane gave a comprehensive account of thirteen boys with the most common and severe form of the disease, which now carries his name – Duchane muscular dystrophy

    It soon became evident that the disease had more than one form. The other major forms are Becker, limb-girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss muscular dystrophy. These diseases predominately affect males, although females may be carriers of the disease gene.

    Most types of muscular dystrophy are multi-system disorders with manifestations in body systems including the heart, gastrointestinal system, nervous system, endocrine glands, eyes and brain.
    Apart from the nine major types of muscular dystrophy listed above, several muscular dystrophy-like conditions have also been identified. Normal intellectual, behavioral, bowel and sexual function is noticed in individuals with other forms of muscular dystrophy and muscular dystrophy-like conditions. Muscular dystrophy-affected individuals with susceptible intellectual impairment are diagnosed through molecular characteristics but not through problems associated with disability. However, a third of patients who are severely affected with Duchane muscular dystrophy may have cognitive impairment, behavioral, vision and speech problems.

    The signs and symptoms are progressive muscular wasting, poor balance, drooping eyelids, atrophy, scoliosis(curvature of the spine and the back), inability to walk, frequent falls, waddling gait, calf deformation, limited range of movement, respiratory difficulty, joint contractures.

    On the cause, experts say these conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. However, mutations of the dystrophin gene and nutritional defects (with no genetics history) at the prenatal stage are also possible in about 33 percent of people affected by Duchane muscular dystrophy . The main cause of the Duchane and Becker types of muscular dystrophy is the muscle tissue’s cytoskeletal impairment to properly create the functional protein dystrophin and dystrophin-associated protein complex

    The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase, electromyography, electrocardiography and DNA analysis. A physical examination and the patient’s medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.

    Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.

    According to experts,there is no known cure for muscular dystrophy, although significant headway is being made with antisense oligonucleotides. Physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), speech therapy and orthopedic instruments (e.g., wheelchairs and standing frames) may be helpful. Inactivity (such as bed rest, sitting for long periods) and bodybuilding efforts to increase myofibrillar hypertrophy can worsen the disease.

    There is no specific treatment for any of the forms of muscular dystrophy. Physiotherapy, aerobic exercise, low intensity anabolic steroids, prednisone supplements may help to prevent contractures and maintain muscle tone. Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with Emery-Dreifuss muscular dystrophy and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin, or mexiletine, but no actual long term treatment has been found.

    Occupational therapy assists the individual with muscular dystrophy in engaging in his/her activities of daily living (self-feeding, self-care activities, etc.) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy conservation techniques. Occupational therapy may implement changes to a person’s environment, both at home or work, to increase the individual’s function and accessibility. Occupational therapists also address psychosocial changes and cognitive decline which may accompany muscular dystrophy, as well as provide support and education about the disease to the family and individual.

    High dietary intake of lean meat, sea food, pulses, olive oil, antioxidants; such as leafy vegetables and bell peppers, and fruits like blueberry, cherry etc. is advised. Decreased intake of refined food, trans-fats, and caffeinated and alcoholic beverages is also advised; as is a check for any food allergies.

    Diagnosis, neurology, GI-nutrition, respiratory care, cardiac care, orthopedics, psychosocial, rehabilitation, and oral care form the integral part of disease management, all through the patient’s life span.

    The prognosis or outcome of treatment for people with muscular dystrophy varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk.
    Some children with muscular dystrophy die in infancy while others live into adulthood with only moderate disability. The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere.
    Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
    The husband and wife who hail from Oguta Local Government Area of Imo State and Isiala Ngwa Local Government Area of Abia State respectively, said they have gone into penury as a result of their children’s disease that first manifested in 2006

    Narrating the story of his life, Onyia-Eburuo who is a painter by profession, told Daily Sun how his marriage produced five children, four males and a female. Of these, only the eldest, Prince enjoys good health. “We got married in 1992. In 1993, we had our first child, a boy, who is now 19. The youngest among them is eight years. With the exception of the oldest, all my four children are suffering from muscular dystrophy.

    Recalling how the children’s ill-health started, he said they were born perfectly normal and were attending schools when all of a sudden, the condition began to manifest in his second son, Tochukwu in 2006. “So we started treating him, carrying him up and down; here and there, from one hospital to another without getting any result. After sometime, we started noticing the problem in the other children. And began taking them to hospitals. We went to Isolo General Hospital,Lagos, then, to National Orthopaedic Hospital,Igbobi,Lagos and Lagos University Teaching Hospital(LUTH) without getting any solution because the disease has no cure.
    “We consulted some religious and spiritual homes for help. We also tried alternative therapy. At some point, we started going to churches and so on. Till date, there was no solution. Instead, their conditions just got worse, deteriorating by the minute.

    Continuing, he said; “we have also tried the native way. When tribulations like this come, no parent would just sit, fold his hands and watch his child die just like that. Not even where it affects just a child, let alone my case, it is not just one, not even two, nor three, but, four of my children being diagnosed of this same ailment. Somebody was treating them with herbs.Initially, he thought it was stroke. So he was giving them herbal treatment meant for stroke. But he later told us it was not stroke and stopped the treatment.”

    The traumatised father said, “Initially, I did not understand what they said it is. According to the doctors and surgeons, they called it Duchane muscular dystrophy and said the thing is destroying their muscles. If you see them now, they cannot lift their hands and legs. So, it has become practically impossible for any four of them to lift himself or herself up. So they just sit or lie at a spot.”
    Onyia-Eburuo said his children’s failing health has at the moment, stalled their education.
    “As their muscles get eaten up by this disorder, within a short time, they are not able to do anything by themselves because they can’t even lift an arm let alone their bodies. So, they have all stopped going to school. The four of them are at home, always sitting or just lying down at a place.

    “Initially, we were forcing them to go to school. But as their conditions got worse that they could not get up by themselves, we had to let them be. This is because we have to carry them to the toilet to urinate or defaecate whenever any of them wants to. And the terrible thing about it all is that you have to be there to hold them so they won’t fall off the water closet. We brush their teeth, bathe and feed them, put on their clothes, even fetch water and help them drink the water.

    He explained that despite all hospital visitations, the children have not received any form of treatment. Reason is that there is no known cure for Duchene muscular dystrophy.

    “Infact, there has never been any good treatment since 2006 we first noticed this problem in Tochukwu. What we have been asked to do is run one test or the other. No form of drug whatsoever has been prescribed for them. I just can’t understand. It’s been test, test and tests. We go for one, they suggest another and nothing is done. When the doctors find out they cannot be of any help to us, they refer us to another hospital. The hospital will again, recommend other tests which we also went for. Yet, the story remains the same.

    “It was in our search for a hospital, where perhaps, they can even give us something to straighten their bodies that we then went to private hospital which was our last point of call. This was after we’d gone to Isolo General Hospital, then Igbobi and LUTH and nothing came out of these visits. At Igbobi, sometimes, they asked them to do exercise which was absolutely difficult for them to do. That was the only therapy they were giving to them. No drug has ever been administered to them.
    Asked if any form of corrective surgery has been recommended, he said none has been suggested, adding that, “if any hospital exists anywhere in Nigeria or overseas, that is capable of providing cure for my children, I have no idea.”

    The affected children, according to their father, eat normally. “Their feeding is quite okay. They eat very well but even as much as they eat, they just keep depreciating and becoming thinner each minute you look at them. The other problem is that, the condition has started affecting their speech. Now, their word pronunciation has been altered, especially, Tochukwu the one that first came down with the problem.

    Speaking on family history, Onyia-Eburue dismissed any trace of the disease in both families joined by marriage. His words: “There’s no history of such in my family. And none in my wife’s family, the sickness does not run in the two families.” Meanwhile,doctors say a deoxyribonucleic acid (DNA) test will confirm Onyia-Eburue’s claims on his family history and that of his wife.
    Available research indicates that affected victims die by their 19th or 20th birthday or before they turn 30.

    Naturally, this couple presently are overwhelmed by the thought of losing four of their children. Eburuo’s worries are not all about his children’s health challenges. He narrated that the suggestions proffered by people around him left him more worried. “The terrible state my children are in now has scared away all our friends and relatives. Even as science has identified what their problem is, many people find it difficult to accept why or how the four of them could be affected. And because of the plight my wife and I have been going through and the untold difficulty we have been through, a lot of them have suggested that we feed then with poison and let them go.

    According to him, his father and mother died at age 90 and 133 years respectively. “The same also applies to my uncles. They all died in good old ages. As for my wife, her mother is still living but her father is late. He also died at a very ripe age of 90 or 90 plus. We never experienced something like this. It is completely strange.

    Since it is established that children affected by this condition usually die before age 20, you then begin to wonder aloud and feel the pulse of Mr. and Mrs. Onyia-Eburuo, if a time comes, and death begins to pick, one after another, these four precious lives.

    The helpless father said, “When that happens,” even though he shivers at the mere thought of it, “I will only take solace in the fact that God’s Will reigns supreme. “I don’t have any choice but to accept it as my fate. I don’t have any option. I can’t fight God. This is why we have come to call on the medical world, physicians and researchers to rally to our aid and see what could be done to avert this imminent terror. Because it’s going to be terrifying and heart-rending for any couple to watch helplessly and their four children die just like that.”
    According to Olatunji,” Muscular dystrophy is a group of genetic disorder. When we say genetic disorder that means they are passed from parents to children through gene. That means the disease or disorder is either present in a parent or is hidden in a parent and they transmitted it to their children. That is what we mean by genetic disorder.

    “So muscular dystrophy is a genetic disorder that shows as weakness and reduction in muscles. They’re transmitted from parent or parents to offspring and they present with weakness and reduce the mass of the body. So, the individual now develops weakness of the body and the muscles and generalised reduction in the size of the muscle.

    “Duchane muscular dystrophy usually affects males. This is however, not to say that it doesn’t affect females. But, it’s more common in males. But, for a female to have it, she must have inherited it from the parents because it not easy to manifest in females. A female has two X-chromosomes, the male has one and it’s carried on the X chromosome.

    “Usually, when these children are born, they look relatively normal. But by the time they start growing, you see the muscles of the body getting smaller and the patient getting weaker. And the characteristic sign elicit in them. We call it Gower sign. This sign, just drop something on the floor, ask the child to pick it up. If you and I will bend down and pick something, we simply bend and pick it. But in these patients, because of the weakness if the muscles, they use their hand to climb on their leg. That is, if it hasn’t gone too bad.

    “And after they pick it, they will use their hand to climb on their legs (hind) again. So, they use their hand to climb on their thigh because their muscles are weak; they’re not able to support them. That is the Duchane muscular dystrophy. It’s usually severe.

    “Now, muscle is everywhere. The heart has muscle, that’s cardiac muscles. There are skeletal muscles. So, the disorder affects every muscle in the body –the skeletal and the cardiac muscles. You know you need muscle for breathing. Its muscle that makes you to breathe. So, about 30 years or there about, most of them must have developed difficulty with breathing because the muscles needed for them to breathe are also affected.

    “Usually, this disorder manifests early in patients, usually, before five years. By five years, they begin showing the manifestation much more severely. By 10 years, most of them must have needed wheelchair because the muscles must have been so weak. By this time, they can’t walk about doing much. And usually, by 30, the muscle for respiration must have gone bad. So, usually, life expectancy is not more than 30 years in them.

    “First, patients like these need to do a pre-marital and pre-conceptual counseling. If there’s the history of it in the family, there must be a pre-marital counseling. So that the individual knows that it run in their family and doesn’t get married to someone who’s a carrier of the gene for it to manifest. So, in pre-marital counseling, you know the history, the family trait of the person you’re about marrying from. And you know who’s affected, who’s not affected.

    “Then, after conception, there is some test that could be done to detect whether it’s in the foetus or not. That is, an unborn baby. Whether they have this condition or not. Those are not common in this part of the globe. People don’t do premarital counseling here. You just marry whoever you want to marry. People don’t even do pre-conception screening to know how the baby is doing.

    “So, most of our patients come and just give birth to babies with such conditions. They should be diagnosed early. They’re some things we use to diagnose them, such as the Gowa sign. That is, ask the person to pick something from the floor. We can actually do some blood tests; we can do a muscle biopsy. A muscle biopsy will actually help us with the genetic analysis.

    “After diagnosing these patients, the main bulk of their therapy is physiotherapy and splintage. The muscles are getting weak and the joints are getting deformed. So, you put the splint to prevent deformity. You know its muscle that moves the joints. If the muscle is weak, the joint starts getting abnormal. So, you splint the joint to prevent it from getting abnormal to prevent contracture. For instance, if the muscle is supposed to move forward, you use something to splint it.

    “Splint is just to immobilize. To make that place not bend or get deformed. In order words, to straighten those joints. For instance, as its bending, you’re putting something like a serial POP manipulation, opuses or whatever. By so doing, you’re making it not to get deformed, not to get abnormal.
    “Something like a cast, for example, like a POP cast or opuses and other materials that you can apply to make sure the joint doesn’t get deformed. Then, physiotherapy, the muscle is weak and it’s reducing in bulk; if you start strengthening the muscle, it can actually get a little better. An analogy is this, if a weight lifter keeps exercising every morning, his muscle will get bigger. Someone who doesn’t do exercise, the muscle will be small.

    So, if the muscle is abnormal, whatever is left, you will start doing exercise –physiotherapy to strengthen whatever is left.
    On when physiotherapy should start,Olatunji said,”at the early stage. Remember I told you that by age five, the sign has become visible and by 10, they stop walking. So, immediately they’re born or as soon as they’re diagnosed. If it is started before or by five years, they can still move. What is left, let’s start exercising them like weight lifter doing exercise to make his muscle big or like a wrestler doing exercise to make his muscle strong.

    “In essence, the weak muscles, before they get to that stage, let’s start doing exercise to strengthen them. That is what we call physiotherapy, to prevent them from getting bent.

    “Some of them can benefit from some surgery, such as tendon transfer. But this is not usually common. So, the mainstay of treatment is to splint it to prevent deformity. You do physiotherapy and, some of them can actually benefit from tendon transfer. Tendon transfer is a special type of surgery the orthopedic surgeon does to actually correct some deformity. Those are the mainstay of treatment.
    And drug? Usually, there’s no room for much drug. Those are the main pillar of their treatment the splint, physiotherapy and surgery,”he said.
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