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I will try to explain a little about metabolic disorders,but it`s not
easy.
Untill Noah was born,we had no idea what metabolic disordes were.
We thought it was something like allergy or intolerance for food ; and as soon as
we`d knew what the problem was we`d adjust his diet and he would be fine.
In reality 70% of the childeren born with a metabolic disorder dies before puberty.
Our body is like a chemical factory.In the cells and tissues of
our body a lot of little parts work together to manage all of the funtions of the body.
The most important parts which are responsible for the biochemical processes in our
bodycells are enzyms.
Enzyms are made by a kind of recipe.That recipe comes from the heredity
materials in our cells : the DNA.
What happens when incomplete or damaged DNA gives a incorrect recipe for an
enzym?
You could compare biochemical turns with a chain : in part B , part A is turned ;
and in order to to that it needs part ab.
Enzym bc turns part B into part C.Part C is turned by cd in part D.And so on.
The final product of this chain can be used in another chain.This is how the body
in many little steps make energy,all kinds of new cells,"maintenance"-products etc.
What happens when a chain is not functioning properly?
When enzym ab isn`t produced,A can not be turned into B,and the whole proces is in
failure.The body needs D,the final product of this chain,and can`t function without it.
Or A stays , in large amounts, in the cell and piles up.Cells can not do their
job anymore.
Or part A turns into another chemical connection and becomes toxic or damaging to
the for the body.
The problems caused by the missing enzym are called metabolic disorders.
Zellweger-syndrome is a peroxisomal disorder.
A peroxisome is a cellorganelle.Cellorganelles have their own function in every
biochemical processes.They are present in the cell , and every cell has a special task ; depending the organ the cell is in.
With Zellweger-syndrome , the peroxisome is not functioning or is not present.
The body poisons it self.
Most patients with Zellweger die within the first year.
When you saw Noah , you wouldn`t have said he was fataly ill.
He looked normal ; nothing unusual.
But his body was very limp,he had no reflexes and he had a lot of seizures.
He was not able to develop himself ; he could see and hear though.
He gained weight very well , 200 to 300 grammes every week.(mothermilk)
We tried to fight the seizures with medication , but at the end of his life they
kept coming , the only way to keep his oxygenlevel up to 90% was by keeping him on his belly and his heartrate didn`t get
below 190 b/pm.
The only way to make sure he didn`t suffer and he wouldn`t suffocate slowly was by
giving him morfine.
We promised Noah when we took him home , his life wouldn`t become one of suffering
and he could die worthy & in peace.We kept our promise.
Noah became sick because we both carry a mutated gene.If only one of us would carry
the gene,there would be no problem.
How rare the gene might be,and how small the odds might be to BOTH carry the gene
, that is what the facts are here.
With evey pregnancy the odds are 25 % the baby is sick (and will die) and 75% the
baby is healthy.
In september the DNA-tests were finalized and the exact gene-defect was
clear.
There a a few variants of Zellweger-syndrome.
The one Noah had is called Bi-functional Proteïn Deficiency.
Childeren with BPD grow better than childeren with classic Zellweger and they look
less typical.Other than that it`s still a very severe disorder.
For us it`s very impotant the doctors know the exact gene-defect.If we decide to
have another baby ,prenatal testing is possible.We can protect him/her against the Zellweger-hell.
I also feel the need to express our appreciation towards the doctors,nurses, and
everybody who helped us giving Noah a life in peace.
Within 14 days,they knew what was wrong with Noah.With metabolic disorders that is
a very quick diagnose.
When we said we wanted him home,the doctors supported us in that all the way.They
did everything they could as fast as they could.
We could call the hospital for advice day and night ; there would always be a paediatrician
to help us out.
Our family doctor,who guided us here at home , did an outstanding job.Because of
him Noah lived his short life in comfort and dignity.I can`t tell how important that is for us to know.
They also promised us it was possible for Noah to die at home.His chances of survival
were less than zero,so there was no need to make his death a struggle by putting him on machines etc.The medication that was
needed to make him comfortable `till the end could be given at home.
We had the right people at the right time on our way .Noah received the best care
possible,and it is so valuable for us to realise that.
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