Age: 3,5 years
Aleix and his twin sister Julia were born 4
weeks prematurely and after 11 days in the hospital they went home all
At the age of 16 months Aleix suffered from bronchitis with fever. He
had a very bad night and in the morning when his parents went to wake
him up he was in a terrible shape, completely hypoketonic. He just said
two words "mummy water"...
He was taken to a private hospital in Barcelona where the doctors told
them that he was tired and would need to sleep for a few hours to
recover. So his parents followed the doctor's instructions.
Several hours later he was still sleeping and wouldn't wake up. So he
was taken back to the hospital. Aleix was in a clinical coma all day,
and the doctors were very surprised to see that he had a blood sugar
level of 266!
So they diagnosed a pre diabetic disorder.
Once back at home and in the following few months he had 5 more crises
with convulsions, lethargy and hypoglycemia (blood sugar level 30).
Each time the crisis came with a viral infection.
This time his parents decided to take him to an other hospital. Luckily
there the doctors recognized the symptoms and diagnosed him with MCAD
A DNA test was done to confirm the diagnosis. His twin sister was also
tested, and she is a carrier.
Luckily Aleix doesn't suffer any lasting damage after his crises!
He sees a neurologist every year to check his evolution, and everything
is perfectly normal.
Now Aleix goes to the hospital every 4 months to check his carnitine
levels and to control his diet. He is following a healthy diet, not
strictly low fat, and eats every 4 hours.
During the night he sleeps up to 8 hours, and he takes some milk with
corn starch around midnight.
Aleix is now attending primary school and he is doing very well!
The principal and his teacher were informed about his disorder and know
what to do in case something happens.
Aleix takes his lunch at school and he eats very well. In the beginning
it was a bit tough for him due to the new situation. But his teacher
then joined him during lunch all the time, and now everything goes
great. He eats the same, healthy, lunch as the other kids in school.
The school also has a box for Aleix, containing a thermometer, some
medicine to reduce fever, a glucometer and an official letter from the
hospital. The letter says that in case Aleix has a fever of more than
37,5 °C, the teacher has to provide him with the medicine to reduce the
fever and he has to call his parents. The letter also explains
the protocol to follow in case of vomits, diarrea or any metabolic
crisis, and the teachers are very comfortable with this information.
When Aleix is not feeling very well, is tired or has a cold, he stays
home from school to rest.
Aleix knows more or less about his disorder and also their family and
friends know about it. They think that this is very important for them
to have a normal life.
The family hopes that some day metabolic disorders like MCAD deficiency
will be added in the neonatal screening tests in Spain.