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.
Source: Sun News
