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Before going into details I would like to thank my guardian angels who have helped me so much along the different phases of the disease since I got my diagnosis: Doctor Nerea, Doctor Weinstein, Doctor Maldonado, several Doctors in Málaga, Madrid, Rome, and mainly Doctor Derks since we met in person in September 2019.
It is difficult to imagine what we would have done without them and their outstanding teams. 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 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 blood sugars level. It should be between 70 and 100 mg/dl (or between 4 and 5.5 mmol/L) but, unfortunately, it is not always the case.
When I was diagnosed, being 6 months old, I was mainly fed through a nasogastric tube. I normally got soy milk formula and cereals without gluten during the day and dextrose 10% during the night. Every two hours I needed to check my glucose levels and if needed we make adjustments.
I started with small 60 ml baby-bottles introduced through the NG tube 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 managed to tolerate bigger baby-bottles, at a higher pace and with longer breaks among meals. I was sometimes reaching two hour breaks… I was a real champion!
However, with time, things got more challenging and I ended up being fed every forty minutes. In this entry in my blog “One day in Nina’s life” I explained how demanding my day to day became.
Even if we somehow manage to keep blood sugars stable 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 frequently.
You might be wondering how a baby can eat every two hours to survive. This used to be the case till some time ago it was discovered that cornstarch (CS) is a useful treatment for GSD. Being a slow absorption carbohydrate, it helps to maintain blood sugars stable for longer periods.
For along time, I was never able to tolerate CS and it did not work for me. The beginning is always difficult given that it is not easy for a baby to digest raw CS but normally most patients finally manage. In my case, as much as we tried hard, it seemed something was going wrong.
I finally started tolerating CS and having longer fasting periods after following an experimental treatment with Doctor Derks and his team in Groningen (The Netherlands). It was a huge success that I described in this other entry in the blog: My adventures to get the GSD1b empaglifozin off-label treatment
As you can read in the blog, 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 and many other supplements 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 just a little 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.
Regarding the treatment of neutropenia, there have been major breakthroughs recently, which I also benefitted from when I got the experimental treatment with empaglifozin.
Inflammatory bowel diseases
Unfortunately, even if I take neupogen and empa, I may still suffer infections, mostly in my intestines and stomach which make the food absorption 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.