Before going into details I would like to thank my guardian angel: Doctor Nerea. She is the Medical Coordinator of the Spanish Association of GSD Patients (AEEG) and Glucolatino Spain. Since the very first day she has been supporting us and providing excellent advice from Barcelona. The work she does with GSD patients in Spain is highly admirable. It is difficult to imagine what we would have done without her. The support provided by other families affected by GSD has also been very useful. Having said that, let’s get into it:
As I mentioned before, one of the best ways to control my level of glucose in blood is through a very strict control and a very frequent and adequate feeding which will provide proper glucose inputs.
To control the level of glucose I need to give my finger a shot to get a sample of blood. This is collected with special strips connected to a device which tells us the level. It should be between 70 and 100 mg/dl but, unfortunately, it is not always the case.
Being so young, I am currently fed through a nasogastric catheter. I normally get soy milk formula and cereals without gluten during the day and dextrose 10% during the night. Every two hours I need to check my glucose levels and if needed we make adjustments.
I started with small 60 ml baby-bottles introduced through the catheter in two hours. Then I would do a thirty minutes break and check how long my levels of glucose were lasting stable. After two months in the hospital, with the support of my family, I have managed to tolerate bigger baby-bottles, at a higher pace and with longer breaks among meals. I was sometimes reaching two hour breaks… I am a champion!
Even if we manage to keep stable levels of glucose we can never be overconfident. Sometimes I can go into hypoglycemia very quickly for many reasons: my hormones might be very active, it might be too hot, or too cold, I may have laughed or played too much, I may have been sick, or have a nightmare or a very nice dream.
When I have hypoglycemia sometimes I sweat, I am sleepy, tired or irritable. If this is the case, my levels need to be measured immediately. However, in other occasions, I can go into hypoglycemia with no symptoms and this is why controls need to be made every two hours. Hopefully when I am older I will need to make controls only every three or four hours, depending on how my body evolves.
You might be wondering how a baby can eat every two hours to survive. This was always the case till some time ago it was discovered that cornstarch (CS) is a useful treatment for GSD. Being slow absorption food, it helps to maintain stable level of glucose for longer periods. I am still too young to take all the CS I need but I have already started trying it. The beginning is always difficult given that it is not easy for a baby to digest raw CS but I am sure the effort will be worth it.
Even if CS works well, I will need to have a very strict diet during all my life and there will be many things I cannot eat (i.e. fruits). This is why I will need to take multivitamins, probiotics and other substances to cover the gaps in my diet.
The treatment for neutropenia is simple but I do not like it anyway. I have a daily shot of something called neupogen. It needs to be kept in the fridge and sometimes it is too cold and it hearts. Recently we have been told that we can wait a bit till it becomes warmer so now it is a bit less painful.
In any case, the main function of neupogen is to promote the creation of neutrophils. It makes me have a higher neutrophils count and be more protected against potential infections. I will never have standard levels but, at least, I will hopefully keep decent ones. Last but not least, it is very important to calculate the right amount of neupogen to be provided because if I get too much during long time I could suffer leukemia.
Inflammatory bowel diseases
Unfortunately, even if I take neupogen, I suffer infections, mostly in my intestines and stomach which make the absorption of glucose more difficult. I can have gastroenteritis, diarrhea and vomits which will make me go into severe hypoglycemia very quickly. If this is the case, I need to go to the Emergency Room immediately to get an IV through which I get the glucose directly in blood. I have faced very challenging situations in several hospitals where they were not even able to set up an IV. It is really scary.
Apart from all that, since I have a compromised immune system, I can easily get any other disease. If this is the case we also need to be very careful since there are medicines and antibiotics that are forbidden for us. We have listed all of them and we are very careful about it.