Only a handful of people in the world have 35 years of experience with Glycogen Storage Disease. The disease management and parenting side that is. This blog is a way to capture the lessons learned from the years of emergency rooms, hypoglycemic children, and always knowing what time it was. This blog is also my way of helping the families around the world learn to laugh, love and live well with Glycogen Storage Disease.
I was blessed with not one, not two but three children with Glycogen Storage Disease and one without. The first question that may pop into your head after reading that sentence is, “How the heck did that happen?” It was the end of the twentieth century and genetic counseling was available. The disease is autosomal recessive; it takes two people with the recessive gene to produce an affected child. I always wanted a large family. At 21 years old, when my daughter Natalie was diagnosed, I heard the doctor tell me every pregnancy had a 25% chance the child could have the disorder. I am not sure if I was listening or just absorbing the words for a later time. My decision to have children went deeper than genetics. I make no apology. My sons are all contributing members of society. I love them. I wish their lives were easier.
I am a registered nurse and know some of the experts in the world of GSD on a first name basis. I am a pioneer in the fight to improve the lives of children and their families who live with GSD on a daily basis. Won’t you join me in my crusade.6 Comments
Iris, You have such a wonderful gift of compassion and understanding. I’m so glad to see you telling your story and giving hope to every family that deals with GSD. You should add a picture of your boys! They are so handsome! Janet
Iris, you asked about the “I love Genetic Research” buttons on orphandiseasenetwork.org. How many do you want? I can send you several free…. I self fund my website, and am so motivated to “get the word out” about rare, orphan diseases and the need for genetic testing for a cure, that I’m willing to spend a little money to help get the word out. Just email me at email@example.com and tell me how many you want, would 4 or 6 work?
and send your address and I’ll mail them out to you this week.
We have 3 rare, orphan diseases in our family’s bloodline: my father, me, my sister and her daughter all have hereditary angioedema (probably my son, as well), my 16 year old grandson has been blind from age 8, and has had multiple spinal and other surgeries for his Bardet Biedl Syndrome, and my 29 year old niece has narcolepsy with cataplexy. Thank you so much for your kind thoughts about the website…. and by the way, I really like yours too!!! It’s both warm and informational.
I just discovered this work…you are so wonderful to share your story. I love it and it is so needed.
I believe that living a life as close to normal as possible is important for our children’s psychological development. I am glad you like it. I believe the words of encouragement you give are important as well. We are in this life together.
Iris, this hits so close to home. Deciding to have more children after already having 1 child with GSD was not a decision my husband and I took lightly. Children trump genetics. We also have 4 kids: 2 healthy girls, and 2 younger boys both with type 1a. Thank you for your encouraging words.
I hope all are doing well.