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A personal post honoring my son Joaquin and Glycogen Storage Disease Awareness Week.

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A personal post honoring my son Joaquin and Glycogen Storage Disease Awareness Week.

Graciela Saldivia

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This is my soon-to-be six-year-old son Joaquin. He just started Kindergarten and has Glycogen Storage Disease (aka GSD), Type 9. He is my first-born and owner of one-third of my heart. He was the perfect newborn until he was about 8 weeks old, when he stared developing what he didn't know at the time were GSD-caused symptoms: Cranky every waking minute. We took him to the pediatrician to see if he was getting a cold, and thank God she noticed his liver was abnormally enlarged. I say thank God because we could have not had an amazing pediatrician that would check him head to toe every time she saw him. I say thank God because she could have not have had the GSD information on the back of her head, since I had told her that I was a carrier before he was born. I say thank God because his disease could have been found way later, hence delaying the start of his treatment. I am tremendously thankful for many things, including the fact that he has GSD, because it could be worse, and my heart breaks for everyone going through anything that affects their children's lives in any way. Also, if Joaquin hadn't GSD, that would mean that I would have had a different child, and I can't image having anyone different than my sweet beautiful boy, not even by one cell.

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So what is Glycogen Storage Disease? It’s a rare condition that affects about 1 in 100,00 people. The GSD liver lacks enzymes that control the change of sugar (glucose) into its storage form (glycogen). In plain English? For healthy systems, when we eat, our bodies use foods as a source of energy. After a meal, blood glucose levels rise, and the body stores the extra glucose that is not needed right away as glycogen in the liver and muscles. Later, as the blood glucose levels in the body begin to drop, the body uses this stored energy to keep functioning at normal levels. For people with GSD, the liver can't release this "energy", it just gets stuck there, making it enlarged, and their systems start grabbing this needed boost from muscles, making them weak, and even then, it is still not enough. The glucose continues to drop, and it can do so to dangerously low levels, causing seizures, and for the most severe types of GSD, liver failure, or even death.

Kids with GSD suffer from the following symptoms:

  • Poor growth
  • Muscle cramps 
  • Low blood sugar 
  • A greatly enlarged liver 
  • A swollen belly 
  • Abnormal blood tests
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Is there a cure? No, not YET. An amazing team at The Connecticut Children's Medical Center, headed by the truly amazing Dr. David Weinstein, are actively working on a cure, which will hopefully come soon. In the meantime, this is how we tackle it to prevent Joaquin's sugar levels from dropping: 

  • Healthy diet. Consisting of several small meals, very low in sugar and rich in complex carbs and protein. 
  • Cornstarch and protein powder.  Cornstarch, because it is digested slowly, so it provides a steady release of glucose in between feedings. And protein powder, because it makes up for the amount of protein that is not taken with the actual meals.
  • Continuous nighttime feeding. This part is the hardest. It is REALLY hard. Healthy people can fast for several hours and their systems will maintain normal glucose levels all night long. People with GSD can't. Depending on age, kids will need to be fed once, twice or even three times overnight to avoid drops in glucose. The little ones get to a point that they don’t even realize they’re being fed while they sleep. Parents do feel its impact, all day, every day.
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So, does this suck? Yes, but what disease doesn't? I'm all about being positive, but there's no denying of almost six years of non-stop sleep deprivation and worrying on us parents. We feel it. However, all the incredibly hard work pays off, because our Joaquin (and all kids under treatment) leads a pretty much normal life (LOVES playing sports and is super active), looks like a normal child (stature within normal range for his age and no swollen belly), and is the biggest idol to his baby brother Santi. There's still work to be done, as his blood tests are not perfect, but we will gladly welcome keeping on with the hard work and sacrifice, if our reward is to see our happy, active, growing boy thrive. Mama and Papa love you beyond words my Joaquin!

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If you read all the way to here, thank you for caring. Your support really does mean the world. This is Glycogen Awareness Week, and as a loving parent, it is my duty to let you know how strong our boy is. As strong as he is sweet :)