Permit me to present the story of our recent couples at our Pre-implantation genetic programme at MART as presented by the wife.
“John and I married when I was 31 and
he was 33. We had been dating for four years and many people —
including our parents — advised us not to marry, as we were both AS.
They were afraid that we would have SS children.
“I read somewhere that for each
pregnancy, our chances of having an SS child was 25 per cent, 25 per
cent for AA child 50 per cent for AS. Perhaps it was foolish of us, but
after long and anguished debates, we decided to take the risk.
Contd. after the cut...
“It was only after we got married
that I first met a child who had the sickle cell disease. The five-year
old was the son of our next door neighbour. I saw him having a crisis
when I visited their flat. He was screaming in pain, complaining about
leg and joint pains. His eyes were yellow and his chest was large from
an enlarged spleen. Perhaps if I had this knowledge before I got
married, I would have had a rethink. From then on, I grew cold feet
about conceiving and bringing a sickler into the world.”
“After seeing our neighbour’s son go
through a crisis, and the suffering that not only he but the entire
family went through, John and I did not want to run the risk of having a
sickler. We had been married for two years without really trying to
have a baby when we heard of Medical Art Centre which specialises in
infertility and various techniques in assisted conception. A friend told
us about them and suggested we pay them a visit just to ask for their
advice and see whether they could help us.
“Our first consultation was with the
Clinical Coordinator. We explained to her that we did not know whether
we had infertility problem, as we had not really been trying to get
pregnant. Our problem was actually the fear of bringing giving birth to a
sickler because of our genotype. We told her we were wondering if they
had any technique that could help us.
“She informed us that the clinic had
just begun a programme called Pre-implantation Genetic Diagnosis (PGD)
with Polymerase Chain Reaction. These two procedures are able to look at
embryos that had been fertilised via IVF and see which ones are
abnormal and normal and also see which ones are AA, AS and SS so that
only the normal embryos which are also AA would be implanted to produce a
normal baby. The technique was in collaboration with a PGD Center in
the United States, we were told.
“John and I thought we were in a
dream land. We decided to sign up for it right away. When we started the
treatments, the clinic did a complete assessment and found that both
John and I had normal reproductive profiles although they said I needed
to lose a little weight. The only thing they found was that we were both
AS.
“To get the PCR, we had to first go
through the IVF and ICSI, then the embryos were biopsied sent for and
the PGD using PCR which is the diagnostic technique that can screen for
the genotype, that is, determine which embryos are AA, AS and SS. At the
end of the day, two of the embryos were SS, one was AS and three were
AA. The MART transferred only the three good embryos. My pregnancy was
confirmed by a pregnancy test at the MART. Thanks to God, I delivered a
normal baby with no sickle gene. The boy is now one year old and doing
very well.”
The sickle cell disease is inherited from one’s parents. It is a disorder of the red blood cells.
People with sickle cell disease have
abnormal red blood cells that have haemoglobin S that sometimes become
sickle or crescent in shape and therefore make it difficult for the
blood to pass through small blood vessels. When the blood cannot pass
through the small vessels, it will not be able to reach those parts of
the body which the arteries serve. Eventually, these tissues become
damaged due to lack of oxygen and other nutrients. The damaged organs
and tissues are what cause the complications of sickle cell disease.
Normal blood cells contain haemoglobin
A, which is soft and round and can easily squeeze through the tiny blood
vessels. They live for about 120 days before they are replaced by new
blood. Haemoglobin S, however, lives for only 16 days and become stiff
and misshapen and has difficulty passing through the tiny blood vessels
which become blocked with clumps of blood.
There are several types of sickle cell
disease. The most common is sickle cell anaemia (SS). There is also
sickle haemoglobin C Disease (SC). Sickle Beta-Plus Thalassemia and
Sickle Beta-Zero Thalassemia. There is also sickle cell trait, in which
the child can produce both haemoglobin A and S (AS). However, children
who are AS are generally healthy, as they tend to produce more
haemoglobin A than S. You can have children who are AS if one parent is
AA and the other is AS or if both parents are AS. If both parents are
AA, then all children will be AA. If both parents are AS, then you can
have children who are either AA, AS or SS.
When the sickled blood cell blocks the
flow of blood through the small blood vessels, it causes damage to the
lungs, which in turn causes respiratory problems and acute pain episodes
in the arms, legs, chest and abdomen. It can also cause stroke,
prolonged and painful erection and damage to most organs, including the
spleen, kidneys and liver.
Damage to the spleen makes sicklers,
particularly the children, to be prone to bacterial infections which
totally overwhelms them so that they are constantly sick and in pain.
With good medical care, some have lived up to 60 years and above.
-Oladapo Ashiru (denrele@uic.edu 08033347231)
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