Name: Gustav
Gender: male
Age: 5 years
Country: Denmark

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 hospital.
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 time.
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 metabolic disorder.

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 us.
(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 metabolic crisises.

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.

This page was last modified on 10 March 2011