It’s World CDG Awareness Day! Each year May 16 is the day that worldwide we show our love for all those with CDG and spread as much awareness as we can. The reason why awareness is so crucial is that, like most of you, we had never heard of CDG (Congenital Disorders of Glycosylation) before Teddy’s diagnosis in November 2015. We were informed his initial diagnosis of Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1) was a type of CDG. CDGs are classified as rare diseases as a whole, and there’s more than 100 different types of CDGs known, with more discovered as science continues to evolve.
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| I think we need a new picture. This one's a few years old. |
CDGs are the result of genetic mutations that impact how the body processes sugars on a cellular level. (Think back to high school biology.) Since it’s on the cellular level, there’s no dietary changes to make. Unfortunately, there’s also no treatment, let alone cure. Instead, we treat the symptoms that present with CDG, which means for Teddy we treat for seizures, low carnitine levels and assist his body with getting much needed rest. (Yes, some of the medications we use help Teddy sleep because he struggles with sleep, which makes him cantankerous and more prone to seizures. As an added bonus, these medications also have seizure-reducing properties.)
Teddy’s diagnosis was updated to CDG-PIGN after the medical community
changed the naming system to reflect the name of the gene that is impacted.
When Teddy was diagnosed, we were told he was likely the 15th person
in world with this diagnosis. Our kid wasn’t one in a million … he was more like
one in a billion.
In the past 7 years, more have been diagnosed with CDG-PIGN,
primarily children, although the oldest in our group are in their early 30s.
That doesn’t mean the life expectancy is 3 years, like the first medical
research papers we received, although the reality is that this diagnosis impacts
people in a way that can dramatically shorten their lifespan. This diagnosis
also didn’t exist until 2011 and requires expensive testing to lead to a
probable diagnosis (as there’s no blood test to confirm yet). I’m certain there’s
older individuals … and far more than we know of … who never got a proper diagnosis.
As it stands, our group of known cases has grown to almost
100. One of the amazing PIGN moms, Ashleigh, invited all who wanted to join in a video compilation. She kindly gave me permission to share her video. CDG-PIGN impacts each person differently, even siblings, yet our children
have amazing spirits and smiles, resilience and determination and manage to
change the world with their existence. I’ve shared past posts introducing a number
of our PIGN families in past years here and here and here. Our group continues to grow,
and our hearts ache for our community when we lose one of our children. Unfortunately,
that happens every year, and it hits home each time. The names with the doves by them are no longer on this earth.
As you can see, there’s a wide range of how the disorder affects our children. Generally speaking, the primary challenges are verbal communication, developmental delays and seizures. The severity of the disorder varies greatly as we have some individuals who’ve had only a handful of seizures and others who seize more than 100 times a day. There’s children who can run and walk, like Teddy, and others whose challenge is head control who require total assistance. Some of our children are incredibly medically complex and receive hospice support, and others thankfully are thriving without frequent doctor visits.
Like I said earlier, there’s no cure or treatment currently.
However, there is a glimmer of hope for treatment through genetic treatments
like CRISPR or, more likely, drug repurposing therapies. We recently had a
meeting with a handful of other families to discuss the possibility of starting
the science for a potential treatment for our PIGN children. (I’ll share more
on that in a future blog post.) And that’s why today is important to families
like ours.
Without awareness, the only ones interested in treatment are
the families impacted. Since we have less than 100 families in our group, that’s
a really small group interested in treatment. The more awareness we raise, the
better the chance of finding others with a similar purpose, getting doctors and
scientists interested in CDGs (including PIGN) and potentially raising funds
because science is expensive.
So, feel free to share this post with others to introduce
them to CDG-PIGN. Awareness starts with sharing our story.
#WorldCDGDay
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