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Bjarki Gudmundsson, Age 20, Isovaleric Acidemia

(From Summer 2006 OAA Newsletter)

(MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency
(2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency
(HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency
(3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency
(MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency
5-oxoprolinemia
(D2-HGA) D-2 Hydroxyglutaric Aciduria
(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
(ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria
(IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia
(L2HGA) L-2-Hydroxy- glutaricaciduria
(MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia
(MMA) Methlymalonic Acidemia
(BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)
(MCD, holocarboxylase synthetase) Multiple carboxylase deficiency
(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
(HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency

Hello,

My name is Bjarki Gudmundsson. I was born on the 21.st of November, 1985. I live in a town called Selfoss, which is in Iceland. When I was about 2 years old I was diagnosed with a metabolic disorder, Isovaleric Acidaemia.

My father, Gudmundur Josefsson(1956), works as a carpenter. My mother, Elin Arndis Larusdottir(1956), works at the post office. I have two brothers, Larus Gudmundsson(1981) and Josef Geir Gudmundsson(1978). They both work as carpenters.

In the summer of 1987 I was taken very ill to a hospital. After many tests, the doctors discovered that I had Isovaleric Acidaemia.

Since it was discovered, I have always taken certain pills to help me break down the proteins. I take 5 pills Glycine and 1 vitamin in the morning, 5 pills Glycine and 1 tablet Carnitor at lunch and 5 pills Glycine and 1 tablet Carnitor at dinner. In addition I take 2 tablets of Calcium Santoz, which I dissolve in water.

I have many friends that know about my disease. The most common question, when I tell people about my disease, is “what do you eat at Christmas?” Many people would find it difficult, not being allowed to eat meat or fish. I have to say, that I'm getting used to it after all these years. I always find something to eat. There are some times when I can really feel that I have a disease. e.g. one time we went out to eat. We went to a steakhouse. When I looked at the menu I realized that there was nothing that I could eat.

Here is something that my mother wrote:

On 21. November 1985, a beautiful and healthy boy was born, named Bjarki Thor Gudmundsson. The first six months, he prospered well and was in good health, but at that time he nourished only on breast milk. At the age of 6 months he started having food with the breast milk, which he had until he was 13 months old. At that time, at the age of 6 months, he started getting sick and the illness increased until the second half of summer 1987. He was hospitalized at a hospital in Reykjavík very sick and almost unconscious. After several tests it appeared that he had Isovaleric Acidaemia. These times were very difficult for us the parents, his two brothers and the whole family. It became very difficult while we were adjusting to changed diet. Also the thought that the disease could have caused brain damage, but we knew that we would always love him despite what would happen. It later appeared that Bjarki Thor didn't have permanent brain damage, and since that he has performed well in school.

Bjarki Thor Gudmundsson

Lágengi 4

Selfoss Árnessýsla/Árborg

800 Iceland

bjarkithorgumm@hotmail.com

 

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