Rare Disease Day: 2024

Rare Disease Day is always celebrated the last day in February, and it feels extra special when it falls on February 29 because that's extra rare. It's a day to focus on rare diseases and raise awareness of them. 

One of the common sayings you'll hear is Show Your Stripes. The reason is that often the medical community thinks of the most common diagnosis just as people most often think of a horse when they hear hoofbeats, for example. The challenge is to consider rare explanations as well, such as a zebra (or in Teddy's case PIGN-CDG).  This year, I was on top of my game and created these little key chain cards to share with Teddy's team and classmates at school to raise awareness. 

Another PIGN mom gave me the idea for these key chains. 

I time traveled this week, reading this blog post from 8 years ago in 2016:  Teddy's Triumphs and Trials: Rare Disease Day (teddystriumphs.blogspot.com) This was 3 months after we first learned Teddy's diagnosis. In the past 8 years, so much has changed. To name a few of the most significant:

1. Teddy's diagnosis is now PIGN-CDG, a more encompassing and accurate description than his original diagnosis of Multiple Congenital Anomalies-Hypotonia Seizure Syndrome 1 (MCAHSS1 for short because that's still not a mouthful.)
2. Instead of knowing less than 5 families with this diagnosis and being the supposed 15th in the world, our .community has grown to closer to 100 with the diagnosis and their families. 
3. Teddy is now 10 and capable of doing so much more than we could have imagined 8 years ago. Not to mention, he's thriving and has made an outright mockery of the life expectancy (3 years) given in the first medical research papers. 
4. An Internet search of PIGN-CDG now yields 6,360 results instead of 3 for MCAHSS1 in 2016. Seriously, that blew my mind that Google didn't have results for our son's diagnosis. 

Yet one significant thing has not changed: 8 years later, and there's still no treatment for this disorder. AJ does a great job explaining this in this Facebook post. (For whatever reason I couldn't get the video directly into this post.) If you'd like to support AJ's in fundraising for PIGN-CDG research, you can place your fidget order here.

This fundraising is so important because research is expensive. While there's much interest (and therefore money) dedicated to researching treatments for wide-reaching disorders and diseases, there's not much interest and money in researching treatments for a diagnosis that affects approximately 100 known people. 

But trust me, the effect this disorder has on those families (and their families, friends and communities) is far reaching. It's an honest statement to say Teddy's diagnosis has impacted every single aspect of our lives. Some of those impacts have been beyond positive: friendships forged, connections created and memories to last a lifetime. Others have been beyond challenging: sorrows shared as we lose children with PIGN (2 within a week of each other this month), trauma from seizures and sicknesses, endless appointments and therapy, elopements and other scares. 

For each of us impacted by this disorder, we care deeply about a treatment. We want to change the fact that we grieve the losses of our children every year. We want less hospital stays and better quality of life for all. Honestly, we want to sleep at night without fearing our children won't wake up in the morning. We want hope, not only for our children, but for those who have yet to receive this life-changing diagnosis.

Rare is Rad!

If you don't love someone with a rare disease, you probably have never heard the phrase show your stripes. The idea is that we look for the most common explanation, so we think horses when we hear hooves. The rare explanation of a zebra is also entirely possible.

The journey to Teddy's diagnosis was filled with looking for horses and never finding them. We looked at febrile seizures. But he didn't fit the criteria. We looked at all the common genes for epilepsy. But that didn't give us answers. Every test for 1.5 years was negative or normal, yet the seizures continued and the delays grew more noticeable.

When we got his diagnosis of MCAHSS1, we felt so alone as we were told he was possibly the 15th in the world. Within a month, we were welcomed into a small but incredible community.

Through the years, the name of his disorder has changed to PIGN-CDG, and our community has grown. He's been published in a research paper. We've made friends around the world, most of whom we've never met in person.

A diagnosis didn't change the prognosis or treatment for Teddy, but it helped us find out herd of zebras. And I'm the past year our herd partnered with brilliant scientific minds and expert CDG doctors to work together to find a treatment for CDG-PIGN. If you want to support our fundraising efforts, you can donate here: https://secure.givelively.org/.../finding.../kerry-blondheim

Today is Rare Disease Day. We're not alone in our rare journey. Thanks for being a part of our herd. And thanks to Jillian Halstrom Saddlemire for the

rad

shirts!

Rare is rad! We celebrate Teddy's uniqueness!

In honor of Rare Disease Day, AJ presented to his class about Teddy's disorder. He developed his presentation himself, although he invited me to join him. During the course of 30 minutes, AJ educated his classmates on CDGs, Teddy specifically and our research project. He did a great job and is such a great advocate for Teddy!

AJ is so confident and capable in sharing about Teddy's disorder.

Rare Disease Day 2021

Note: I originally published this post in 2018. Rather than reinvent the wheel, I decided to simply update my 2018 post because it shares some great information about CDG.

The epiphany I had as I attended a Rare Disease Day conference for Wisconsin is there's different levels of rare. There's rare that's 1:40,000 odds like Pompe Disease that stands to benefit from early detection and treatment. Then there's CDG-PIGN, with less than 100 known individuals in the 7.6 billion world population. Early detection provides some answers for families but no clear treatment. That's why something like Rare Disease Day, to encourage all of us to learn about different disorders help. There's so little known about Teddy's diagnosis and so little interest in research because it affects so few people. Thanks for taking a few minutes to learn more about what rare means to us. 

In honor of today being Rare Disease Day, I'm giving you the rare opportunity to take a rare child off my hands for a few hours ... or days ... or weeks? I'm kidding, of course. Mostly. At least about the weeks part.

It's just been one of those tough weeks, but that happens sometimes in our world. Let's be real. Rare is tough. Rare is hard. Rare is full of unknowns. Rare is full of worries and fears. Rare is living through some of those worries and fears.

Wait, though. There's more.

Rare opens doors to worlds we didn't know existed. Even though I worked in Human Resources for a company that supports people with disabilities, I never completely understood it until it became my life. It's almost as if there's secret worlds that aren't secret at all ... we often can't see these other worlds because we're so blinded by our lives and priorities.

Rare is appreciation for the little things because they're not little things. Teddy traced a triangle last week. That's not little. That's monumental. 

Rare is knowing and experiencing the incredible support from family and friends. I'm certain that many of us have people in our lives who would drop everything or come to our aid if we needed it. We've been blessed to experience that support. Granted, I wouldn't wish the circumstances where that support was needed upon others, but it is a true blessing to experience that unfailing love and support. 

Rare is finding those incredible doctors, therapists and teachers who dedicate a portion of their lives to your child's success and well being. Talking to doctors at the National Institutes of Health who knew about CDGs was rare.

Rare is understanding you're not alone. The group of parents whose children share CDG-PIGN get it. They can provide advice, support, a listening ear or a story of something much worse that happened to them to provide perspective. This group gives me more sanity than they might realize.

Rare is understanding that a smile is universal. And the realization that a smile is what so many people need in our busy, stressful lives. And the gratitude that one of Teddy's gifts to the world is his smile ... even when he smiles with a mischievous twinkle because he's about to push your buttons.

Rare is our life because Teddy has CDG-PIGN. And since that's a confusing acronym, here's a short video that explains the CDG portion, even though it's a different variation of CDG:

Rare Disease Day 2019

Well, if it was leap year this year, I'd be on time with my Rare Disease Day post because it's always the last day in February. But, it's not leap year, so I'm a day late.

Some years, I'm on top of things for Rare Disease Day or World CDG Awareness Day (May 16). Some years, I'm not. I did awesome last year for World CDG Awareness Day, so perhaps I'll aim for awesome again this year.

This year, aside from sharing a Facebook post from a past year, I did nothing to celebrate my rare and wonderful Teddy.

I did, however, get him dressed and ready for school. I helped him get on his bus and buckled him safely in and gave him a kiss before he headed to school. I left work early to go to his IEP for which I feel I prepared horribly. I managed to hold it together through the IEP with only a stray tear because I just couldn't stand how irritated and inconvenienced his speech therapist looked to be there, how she dismissed his third goal she's been supposed to be working on all year as not appropriate, so she didn't bother working on it or how she doesn't even know how to use his talker. I made nachos for the family for supper. I played magnets with Teddy after supper. We read stories as a family, and I told Teddy I was so proud of all he's learning.

There's always World CDG Day to be awesome again. Until then, we'll keep trucking along with rare, ordinary days.

Rare Disease Day 2018

In honor of today being Rare Disease Day, I'm giving you the rare opportunity to take a rare child off my hands for a few hours ... or days ... or weeks? I'm kidding, of course. Mostly. At least about the weeks part.

It's just been one of those tough weeks, but that happens sometimes in my world. Let's be real. Rare is tough. Rare is hard. Rare is full of unknowns. Rare is full of worries and fears. Rare is living through some of those worries and fears.

Wait, though. There's more.

Rare opens doors to worlds we didn't know existed. Even though I worked in Human Resources for a company that supports people with disabilities, I never completely understood it until it became my life. It's almost as if there's secret worlds that aren't secret at all ... we often can't see these other worlds because we're so blinded by our lives and priorities.

Rare is appreciation for the little things because they're not little things. Teddy carried three armfuls of laundry from the dryer to the living room today to help me with the laundry. That's not little. That's monumental. His helpfulness ended when he discovered a vest, which he obviously needed to wear.

Rare is knowing and experiencing the incredible support from family and friends. I'm certain that many of us have people in our lives who would drop everything or come to our aid if we needed it. We've been blessed to experience that support. Granted, I wouldn't wish the circumstances where that support was needed upon others, but it is a true blessing to experience that unfailing love and support. 

Rare is finding those incredible doctors, therapists and teachers who dedicate a portion of their lives to your child's success and well being. Talking to doctors at the National Institutes of Health who knew about CDGs was rare.

Rare is understanding you're not alone. The group of parents whose children share CDG-PIGN get it. They can provide advice, support, a listening ear or a story of something much worse that happened to them to provide perspective. This group gives me more sanity than they might realize.

Rare is understanding that a smile is universal. And the realization that a smile is what so many people need in our busy, stressful lives. And the gratitude that one of Teddy's gifts to the world is his smile ... even when he smiles with a mischievous twinkle because he's about to push your buttons.

Rare is our life because Teddy has CDG-PIGN. And since that's a confusing acronym, here's a short video that explains the CDG portion:

Rare Disease Day 2017

Today is Rare Disease Day. It's celebrated the last day in February each year.

This is what I shared on Facebook today:

It's Rare Disease Day-a day designated to raise awareness for people affected by rare diseases. We never knee such a day existed until last year when we had a personal reason to celebrate and share. 

Why is it important? Hardly no one knows of Teddy's diagnosis. That means there's no research, no funding for research and no experts on this diagnosis-essentially no resources specific to his disorder.

The one resource specific to his diagnosis is our small group of other families affected by the same or similar PIGN mutations. The difference between being alone and bring connected to others is incredibly powerful. For that, I am grateful.

Someone asked a thought-provoking question, which I think is one of the best questions you could ask anyone about a diagnosis: What is his diagnosis, and what does it mean for him?

So many responses flickered through my mind:

It means everything is harder for him.

 
It means everything is harder for us.

 
It means he works so hard to reach milestones that others easily achieve.

 
It means we watched his younger, premature cousins pass him by in every milestone measured for babies.

 
It means that when his older brother has a fever, we give medicine to Teddy just in case he would develop a fever as well.

 
It means we worry that a fever will cause a seizure.

 
It means we fight with insurance companies to get him the testing he needed to be diagnosed.

 
It means we continue to fight with insurance companies to get him the therapy that allows him to make gains.

 
It means his first playmates, aside from his brother and cousins, were his therapists.

 
It means that instead of being passionate about people with different abilities because of my career, it became my entire life.  

 

Yet my response was this: 

 

 He has Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, a genetic disorder caused by mutations in his PIGN gene. He's a curious little boy who loves people who has global developmental delays. He gets OT, PT and speech therapy and is starting horse therapy next month. He's made tremendous progress with his gross motor skills and slowly but surely is making gains in other areas. There's so little known about his disorder, and we believe he'll write his own story.

I know you have two adorable boys with a rare disease as well. Sometimes our children open or eyes to a whole other world we never could have fully understood without them. 

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 rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/

There's also more information about Rare Disease Day through www.rarediseaseday.org

Join us in making the voices of rare diseases heard.

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