It’s Warburg Micro Syndrome, Now What?

You’ve read the letter over and over. Somehow, the words don’t sink in; they just sit there in the air dangling in front of you. Where do you go from here? What do you do, and how do you even begin to navigate this world?

I rememberIMG_4199 being told about Warburg Micro Syndrome. It was 1992. Nothing had ever been written about it. Our doctor was aware of an article that was coming out the following year. He was certain that MaryEllen and Kevin fit the characteristics. I remember thinking “No way.” We had been given many diagnoses in those days and this was just another one to add to the list.  I was so good at refuting every diagnosis we were given that I knew I could easily do the same with this one. There was no such thing as the Human Genome Project and we were still many years away from genome sequencing. It was easy to refute every diagnosis that came along. If I didn’t like it, I researched until I came up with reasons why that wasn’t us. Until this one. MaryEllen and Kevin had every clinical feature. They looked like the children in the article.

As they got older, I have unwittingly become a Micro Syndrome expert. As of now, they are the oldest known people in the world with Micro Syndrome. MaryEllen is 28 years old and Kevin is 27. Their genetic testing proved it was Micro Syndrome in 2011.

First and foremost, nothing changes once you get a diagnosis. Your child is still your child. Their smile shines just as brightly today as it did yesterday. Reread this sentence many times and make it your mantra.

Every journal or online reference you read is very discouraging. These articles are very clinical and not meant to uplift or support parents, they are there for helping those in the medical community diagnose your child. There is nothing in those articles that discuss day-to-day and year-to-year life with them. That’s where we come in. Other parents are very knowledgable and caring and don’t really give too much weight to those awful descriptions found online.

Our main source of family support is our Warburg Micro Syndrome Facebook Group.  As of this writing, there are 36 children! We have grown considerably in the last couple years. Now that there are specific tests, I am sure the number will continue to grow. Families in the group are from all over the world. This is the best place for information and support. There are doctors and researchers in the group as well.

There is also a Warburg Micro Syndrome website here.

If keeping up to date with research is important to you, here is a link that will create a “Warburg Micro Syndrome” alert in Google Scholar. Once created, you will receive an email whenever an article about WMS is published.

I am also very happy to help you along the way. Just click here to contact me and send me any questions you may have.

Please, don’t be discouraged. Our children are a ray of sunlight on a cloudy day. They are the happiest, most smiley group of children on the internet!

Let me leave you with this. Grab a tissue and enjoy.

 

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