Mai and Lotte
Age: 17 years
Age: 15 years
Mai (17) and Lotte (15) are 2 of the older
children known with MCAD deficiency. Because newborn screening was not
an option at that time, their story is a little bit different.
Mai and Lotte come from a
family with 3 children. Their younger sister is a carrier of the
Lotte was diagnosed at the
age of 9 months, in 1995. She had been ill with a cold and fever for
1.5 days. She was too ill to eat solid foods, and her mam wasn't home
at that moment to breastfeed her.
Luckily her father brought
her to the hospital in the city, and the IV with glucose, that was put
in her arm as a standard procedure, saved her life.
Here blood sugar level was
checked and was 0,6 at the time, so they gave her an injection with
glucose. Shortly after that she woke up and was as fresh as a rose,
tired, hungry and really glad to see her mam who could breastfeed her.
Lotte has been healthy ever
since and luckily she did not suffer any consequences of this crisis.
She is still always happy to see her mother, even though she hasn't
been breastfed for years! ;-)
After the acute crisis the
parents and the hospital staff were very curious about why Lotte had
reacted so fiercely on a harmless cold and fever.
Fortunately they already
got the diagnosis a week later. The doctor who had treated her had read
something about metabolic disorders in his textbooks and had sent a
blood sample to the lab of the university.
Mai was diagnosed 9 months
later, at the age of 2,5 years.
After they got the
diagnosis of MCAD deficiency, they were obviously terrified, because
nobody really knew anything about it. But they were also happy that it
was nothing more seriously.
They learned that it is a
defect in a gene that causes this disorder, and that they should
remember to eat the right food, low in fat and rich in slow
carbohydrates, to stay healthy.
As they live in a country
with lots of oatmeal and rye bread, they thought that shouldn't be too
hard to handle!
They were also lucky to get
in touch with an other family who also has a son with MCAD deficiency.
This boy is 2 years older than Mai and it was a great relief for them
to hear about what real life with MCAD deficiency is, in stead of only
having to rely on very theoretical explanations.
They read everything they
could find on MCAD deficiency but that was not always easy to
understand. It was also hard to know what the right thing is to do when
even scientists disagreed on what to do and what not to do with regard
to MCAD deficiency.
In their home MCAD
deficiency is not seen as a disease but as a disorder. The girls and
other people who take care of them have never been told that they are
sick with MCAD deficiency, but they were explained that they could get
sick if they don't respect the dietary rules.
MCAD deficiency is treated
with the right food, and they have always followed the recommendations
of the health agency. Of course the girls sometimes eat some unhealthy
food too, like sweets and cakes. But most of the food they get into
their stomachs is healthy food with lots of slow carbohydrates.
It would be a lie to say
that the fact that the girls have MCAD deficiency has not affected
their lives. Especially in the early years they were often worried and
had to pay special attention to eating in case of colds, chicken pox,
diarrhea, periods of little appetite etc.
But it would also be a lie
to say that this has greatly affected their lives. In the last few
years it has filled less and less of their thoughts, though perhaps
with the exception of a continuous focus on the correct diet.
The parents have never said
no to anything because the girls have MCAD deficiency. And even when
the girls were very young they were travelling with their parents to
Africa, Turkey, Sweden, France and major European cities. The girls
have been on school trips, overnight stays with friends, grandparents
and classmates, they practise sports, Mai goes to evening school and
Lotte will go next year.
So they have had a very
Both girls get preventive
carnitine supplements since 1997.
They never had to get
hospitalized because of their MCAD deficiency. And if they were ill and
in bad shape, they were always stabilized again with some extra food.
The parents and the girls
agree that the most important thing with regard to MCAD deficiency is
that you get diagnosed. Because then you have the opportunity to lead a
life that is as normal as possible. They are also pleased that the
newborn screening now includes MCAD deficiency, because if they had
known the diagnosis sooner, they could have prevented Lotte's crisis.