Age: 5 years
Gustav was born 6 weeks prematurely and was tiny with his 1950 grams
and 44 cm. He did however grow well and soon we could take him home from the
Already at an age of 3 months he began to sleep through the nights.
Some nights he slept up to 12 hours straight, which seemed absolutely
fantastic for us, brandnew parents.
When he was around 7 months old we had been on a weekend trip, and
Sunday evening at midnight he didn't want to eat. I set the alarm clock
at 3 AM because I was worried about him eating too little.
When I picked him up at 3 AM, he was a little rag doll-like, but I
shrugged it off by saying that he was probably exhausted after the
trip. Monday morning he was still heavily asleep at 8 AM. We thought he
probably was still exhausted. But by 10 AM I made him a
bottle anyway because NOW the child really had to eat something! I picked him
up, but there was not much contact. He just sat and hung his head
dangling against my chest.
Then I got really nervous. I pulled myself together and called the
doctor who immediately called an ambulance to bring us to the hospital.
He was examined from top to toe. He was given sugar water and
antibiotics and recovered within a day.
Blood tests showed only a vague bacterial infection. As soon as Gustav
was done with the IV medicine, he was discharged from the hospital.
When we were called from the hospital a few weeks later, they told us
that they had received the results from the blood tests and that Gustav
might have a metabolic disorder. But they were uncertain on whether the
results were distorted by the fact that the blood samples were
collected while he was so ill and receiving antibiotics at the same
They wanted us to come back to the hospital and deliver a new urine
sample. After that we heard nothing for two weeks and then we received
a letter from an other hospital. They had received a referral from the
first hospital to see Gustav for further tests and treatment for a rare
Then the world just stopped! What the heck ..? Nobody had told us
anything, and then suddenly we receive a letter from another hospital,
a totally different department to come in with Gustav for further
investigation, treatment and guidance for a rare metabolic disorder, as
if it was the most natural thing in the world. Monday I called and
spoke with a doctor from the Centre for Rare disabilities.
He regretted the communication failures that occured because in the
papers that he had received, it said that the first hospital had called
(Which they didn't quite did!!!)
All in all not a very great start to what would be the beginning of
many meetings with health care. Gustav got one infection after another
in his first two years of life, which required many and frequent
hospitalizations, because he would eat virtually nothing at home. It was a
tough time and at this particular age we were often very scared for
Today Gustav is 5 years old and we are doing really great. MCAD
deficiency is not something that dominates our daily life.
We eat dinner at 18h15 and as Gustav always gets up around 6h30 and has
breakfast, this works fine. He has a good feeling about when he needs extra
food. He also understands well that during nights when he is sick, he has to be
woken up frequently to drink juice or lemonade.
Gustav has 3 brothers of which Viggo, born in 2009, also has MCAD
deficiency. He was diagnosed with newborn sceening and so far his
progress has been really smooth.