Monday, February 29, 2016

Rare Disease Day

Today is Rare Disease Day. The last day in February is dedicated internationally to raising awareness of all rare diseases, focusing on families, caregivers and treatment teams. It's happened every year since 2008, but this was the first year we recognized it simply because it was the first year it impacted us.

I figure Rare Disease Day is a good time to share a bit more about Teddy's genetic disorder: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. I hadn't done a post yet attempting to explain his diagnosis for two reasons:
  1. An Internet search will give you basically the same information I can share.
  2. It's really complicated. It's honestly to the point that I feel like I need a doctorate degree in genetics to understand, much less help others understand. 
But here's the gist of it, as far as we can piece together.

The disorder was discovered in 2011, following 7 confirmed cases from 5 inter-related families in the Middle East. That cluster of children all grouped together provided enough information for the medical field to understand that mutations on the PIGN gene cause this condition. Including those children, there were a total of 14 cases listed in research papers when Teddy was diagnosed in November 2015, according to our genetics team. Because of the rarity of the disorder, our joke was that Teddy wasn't one in a million. He's more like one in a half billion.

Since that time, we've been beyond blessed to connect through Facebook with 8 families throughout the world who have children with the disorder. We recognize the disorder is rare, but we also believe there's plenty of people who haven't been diagnosed. We received the diagnosis after exome sequencing, which is an expensive genetic test that has only been used in recent years. Unless a person goes through the gamut of testing to get to exome sequencing, it's unlikely they'd receive this diagnosis.

MCAHSS1 falls into the category of Congenital Disorders of Glycosylation (CDG). Per the National Organization for Rare Disorders, "Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs. Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases."

Makes perfect sense, right?

Essentially, the mutations of Teddy's PIGN gene affect his body's ability to send messages and connect information because the pathways and processes don't function typically. 

You can find more technical explanations of this category of rare disorders through the National Organization for Rare Disorders at

There's also more information about Rare Disease Day through

Join us in making the voices of rare diseases heard.

(And thanks for listening to Teddy's voice.)

No comments:

Post a Comment