I will explain you GSD with baby words otherwise it is very difficult to understand.
One of the first things I read about GSD is that it is an autosomal recessive hereditary disease. What is that? – I wondered – I thought I could not understand it because I was a baby but then I realized that adults had no idea either. I will try to explain it as simple as possible and if you want more specific info please click the links at the bottom of this page.
In practice, it means that my parents were born as GSD carriers because they had a gene mutation that they probably received from my grandparents. They are only carriers because the mutated gene is not dominant but recessive. We need to have two recessive genes so that the disease appears while my parents had only one each. What a relief for them!
In my case, both my mum and my dad transferred me their mutated recessive genes so I got two of them and, therefore, GSD.
As you already know GSD is a very rare disease. Those mutations are not at all common. Having two carriers meeting is also very unlikely. Added to that, even if two carriers have kids only one out of four will have GSD, two will be carriers and one will be fully healthy and not a carrier.
Taking all that into account, it is estimated that only one baby out of 100.000 are born with GSD. My GSD type (There are 14! Mine is 1b) is one of the rarest and even more unlikely. It is easier to win the Spanish Christmas Lottery than having GSD. A water drop in a 5 liters container, one of the hairs you have in your head, a word in a 300-pages book. These are examples of one out of 100.000.
Being such a rare and unlikely disease, it is not easy to diagnose. I was in the hospital once in Italy and three times in Spain, going through plenty of tests, till I got a final diagnosis. Among the main symptoms we have: swollen liver, low level of glucose, dysfunctional immune system, lactic academia, growth retardation…etc.
There is another typical symptom in female babies. They say we have “doll faces”. Since the Doctor who discovered GSD was Edgar Von Gierke somebody wanted to call me Von Gierke’s doll.
I am certainly beautiful but I am nobody’s doll, I am a Warrior!
The Von Gierke’s Warrior.
What is GSD?
Because of the mutation I told you about, my body is not able to break down glycogen in order to produce glucose which is a very important substance that give us the necessary energy to remain alive.
A baby without glucose for a few hours can die. Even if the baby is rescued, serious brain damage is possible. This kind of things happened to GSD babies whose parents were not lucky enough to know that they had this condition. It happened also to those parents who knew about GSD but were unlucky enough to have a fatal slip (a blocked catheter, a device which stopped working, an alarm which did not sound or somebody who overslept…)
This means that we need to control my levels of glucose constantly, during all my life. Neither I nor my parents will manage to sleep one whole night anymore.
The best way to keep good glucose levels is through proper feeding but I will explain you all about it in the next section “Treatment and Control”. It is a very strict diet and I will never be able to eat sweets or fruits. Normally we are not very hungry and we do not have appetite.
Since I cannot transform glycogen into glucose, the glycogen is stored in the liver which can cause carcinomas that, most likely, will make me go through surgery when I am older.
Apart from all that, my GSD type, 1b, includes neutropenia which implies that my immune system does not work properly. My neutrophils count is low and those that I have are not fully functional so I am very much exposed to infections that can be fatal. In practice, this means most of GSD babies cannot go to the nursery and we have a lot of difficulties to find schools that accept us.
The most common infections we suffer affect the intestines which is really inconvenient. When the intestines are swollen the food digestion and absorption is not good and I can go into hypoglycemia faster, especially if I have diarrhea or vomits. This has made me end up in the emergency room more than once.
What a situation! – You might be thinking…- Yes, you are right, it is a very bad and complex disease but do not despair. I will explain you in the next section how to make all this a bit more bearable.