The light at the end of the long tunnel

This post is also available in: esEspañol (Spanish)

Hello Warriors!

I am sorry I did not update you for a while, I have been going through very hard times.

I was really excited and ready to give you plenty of good news. I wanted to tell you all about my adventures in the seaside, how well I was sleeping and how I was improving eating porridge. I was happy because I could go out more often, see the sea everyday and meet my little cousins once in a while. I also wanted to share with you some excellent news about the ongoing GSD research. However, GSD 1b is such a challenging disease that happiness never lasts long and we never have long breaks.

Saturday 28th of July, I had another severe hypoglycemia and we had to run to the Emergency Room. Everything was going well for a few days and I was stable. Suddenly, out of the blue, my level of glucose in blood went down to 50 (it must be between 70 and 100). This is something worrying but normally manageable. I just need an extra input of dextrose which in around 20 minutes stabilizes me. However, this time, it did not work, and my glucose level continued going down… to 45… 37… 29… while we were running towards the hospital.

Whenever I have these episodes I feel sleepy. I tried to remain awake but I cannot. I see that the people surrounding me change the expression in their faces and start moving quickly. I do not understand what is going on and I get worried. People normally look at me with a smile on their faces but in these occasions this is not the case.

In regular conditions, I would show them my best smile so that they would not worry but I feel too tired to do that. I can feel the cold sweat and I finally close my eyes. Sometimes I wake up a bit later and I see my parents, stressed, trying to put glucose gel in my gums. I do not like this and I cry, but not much, I am too weak, my eyes are closing again and I go back to sleep in my favorite place, my Mum’s breast. This is the only part of this story that I like.

In the way to the hospital we called the emergency number in Spain (061). They already know my case so they called the ER and they were waiting for me. I got some blood tests and they set up an IV after several trials.

Once I get the IV we can say I am safe since glucose goes directly into my blood. The problem is that most of the times my body is already destabilized and I have dramatic ups and downs which nobody knows how to control.

After 14 hours we managed to get some stability and around 0300 at night we left the hospital. I got several memories… bruises and punctures… but I did not get any medical explanation about what happened. Maybe a virus that was not found, maybe an intestinal spasm which impeded the glucose absorption for a while.

My parents and grandparents were very tired and also afraid that there could be a relapse. Every time they measured the level of glucose they were having a hard time. The glucometer countdown… 5…4…3…2…1… those five seconds can get really distressing. You wish with all your heart that the level is right.

This is not all. Monday 30th of July I had another crisis. A worse one. I ended up in the ICU. Once more, following several trials, they managed to set up an IV which stop functioning after a little while. Then, more trials, more punctures, and they managed to get a second IV which, again, stopped working some time later. It was in the ICU where they got a femoral IV which lasted longer so I was out of danger but again very destabilized. I will need several days to go back to normal and recover from punctures, bruises, blisters, exhaustion…etc.

In this occasion I got an explanation for what happened. I had a viral infection and a bacterial one. Considering the neutropenia I suffer, these episodes are actually not strange and they will probably happen again. No matter how many precautions we take… this disease is just like that.

I am not yet 10 months old and I have lost count of the times I have been hospitalized and in the ER. All these experiences similar to the ones I just described with stress, difficulties to set up IVs, destabilizations, convulsions, severe hypoglycemia and lost of consciousness.

Listen Warrios, I am telling you all this because I want you to know very well the disease and its consequences. However, I do not want you to be sad. On the contrary, all these should give us the strength to keep on fighting together and, one day, when we win the battle against GSD 1b, we will look back and be proud of everything we have achieved.

Personally, as soon as I open my eyes and I have a bit of energy, I am smiling, so I want you to do the same. Added to that, the good news is that we are one step closer to victory… we start seeing the light at the end of the long tunnel.

Recently, the first GSD 1a gene therapy trial on human beings was implemented by Dr. Weinstein and his team in UCONN to whom we are extremely grateful. Tanks also to Jerrod Watts! He is a super brave warrior!!

We still need a few weeks or months to know how this is going and there will be more trials in more people. Please check the following video:

As I mentioned in my website, this concrete gene therapy could achieve excellent results regarding the hypoglycemia challenge. First for GSD 1a and, later on, hopefully also for GSD 1b. Then, a different gene therapy would be needed for the neutropenia problem… so there is still a long path to walk.

The important thing is that there is light at the end of the tunnel. In my case, it is a long long tunnel, full of bumps and obstacles. There are also some parts with lights, and very colorful graffiti… so I just hope that I will manage to cross the whole tunnel and not remain inside.

I really wanted to share these news with you, Warriors, because it is a huge step forward and because you are also part of it. We will keep on fighting to continue moving forward… and smiling.

A big NinaHug!

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