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.

Daisy: The World's Latest Love Story

One of our CDG children went viral this week, a sweet moment of Daisy dancing with her caregiver at the Taylor Swift show in Australia. You can see the clip that spread like wildfire on TikTok and Instagram here. 

Before anyone realized Daisy was a worldwide sensation, I had shared with our nannies the picture of Daisy heading to the concert. I love sharing what our PIGN kiddos are up to, and the girls are Swifties. (Heck, they're the reason Teddy starts dancing as soon as he hears Taylor Swift.) I wanted them to see how adorable Daisy was as she saw their favorite singer. 

Right away, one of them said, "I saw her on TikTok!" and sent me the link. 

Daisy with her caregiver and friend. 

Of course, I shared the news with Daisy's mom Libby, along with the link. In a matter of hours, Daisy had more than a million views and was well on her way to 2 million. The next day, people walked up to them in Melbourne saying they recognized Daisy from the video. Libby was able to connect with the TikTok creator and share more of their story. 

So later that week, the creator was interviewed on a morning show in Australia about why that moment captured his attention. I joke that I even got my 2 seconds of fame in Australia, referencing "a mom in Wisconsin" telling Libby about the video. 

And the next day, Daisy was featured on the front page of a newspaper in Milan, Italy. The story focused on how Italians want the freedom to enjoy concerts like Daisy, focusing on accessibility for those with disabilities. 

It's incredible how Daisy has captured such attention throughout the world, and that night was such a special moment for Daisy and her mom. "The best thing I witnessed was no one saw Daisy's chair for once," Libby said. "They only saw the girl in sparkles. And that made all the difference for Daisy."

If only we could all learn to see people for who they are, not their disability or adaptive equipment. 

For the Love of Sleep

If you've followed this blog since the early days, you know that sleep has been a challenge for Teddy through the years. Generally speaking, it's improved much in the last several years in terms of sleeping through the night, though we still have a much earlier "Teddy" alarm than we'd like most days. Trust me, if you need a good alarm clock to pry your tired self out of bed, I highly recommend one that involves 80+ pounds kicking a wooden door while moaning loudly. Works like a charm for us. ;-)

Of course, travel is still hard, which means vacations are challenging, and we rarely sleep anywhere aside from our home and our land where Teddy is accustomed to the setting. We drive 4, 5 or 6 hours in a day to make day visits to family rather than spend the night because we know that sleep will be hard to find.

But, generally speaking, Teddy does sleep better. We've worked with his neurologist to find the right combination of medications to both help manage seizures and help us all get rest at night. The trouble is that most of them help more with falling asleep (and restless legs, which he has as well) than remaining asleep. 

On Groundhog's Day, he woke up at 3:30 and was up for the day. I took the early shift that day because I didn't have to work my office job, so I figured I could catch a nap perhaps while he was at school. Given that I already had plans to run with a friend at 5 a.m. and it was warm enough to bring Teddy, I bundled him up, loaded his chair and headed out the door shortly after 4:30 a.m. If you're wondering what warm enough to bring Teddy is for Wisconsin winter, I aim for right around 30 with minimal wind. He was so darn excited to go running! While my friend was a bit surprised, she pitched in pushing him. I joked to him that though it was Groundhog's Day that we weren't repeating this. 

Can you see his excitement?

Post run - still smiling despite the early hour.

Of course, I lied. That was Friday, and Tuesday morning he was up for the day at 2:30 a.m. (We think he fell out of bed that morning and woke up when he hit his hard floor. Game over. Up for the day.) Dave took the first 1.5-2 hours, and then I took over. Again, it was warm enough, and I already had plans for running, so off we went for a 5 a.m. run. My friend are great, so this friend was a lifesaver when my fingers were numb in getting Teddy out of his chair and buckled into the truck. 

Groundhog's Day repeated. Still all smiles. 

Now if you're wondering if he napped at all either of those days ... nope. Not at all. He was definitely tired but powered through the whole day. 

The good news is he had a neuro appointment last week, so we were able to discuss his early morning wakings. We did a medication adjustment, so hopefully once he gets adjusted at the new dose (and over this virus that causes coughing fits that wake him up now), we'll all get some better rest. 

Diagnosis Day 2.0

We have a new diagnosis day: January 31, 2024. 

Last month we did neuropsychological testing with Teddy. It was not a pleasant experience, nor did I expect it to be. Teddy isn't fond of medical offices nor is he great at standardized testing. We requested the referral because we're struggling as a family ... and have really most of last year ... in how to best support Teddy. So we felt it was worth the challenge of the testing to hopefully unlock additional resources.

This behavior, laying on the ground after school, is one of those behaviors that challenge us.

His testing resulted in him meeting the criteria for 2 additional diagnoses: Intellectual Disability, which I already thought (incorrectly) was in his chart, and Autism Spectrum Disorder. Honestly, we were expecting an autism diagnosis, especially after our first parent meeting with the neuropsychologist. 

Still, it's something to process. It's surreal to go from an extremely rare diagnosis, so rare that 3 medical research papers were the only information available online when we got the PIGN-CDG diagnosis, to one so common. We received a laundry list of potential resources when we got the autism diagnosis, and within 4 days we had a one-year membership in a local autism resource group, a discount to attend a statewide autism conference, a full booklet of resources in our area and a paperback book to learn more about autism. It's a bit overwhelming as there's so much information and so many resources, but in a good way. 

Despite an abundance of resources, it's going to take patience and effort to get services started. An autism diagnosis is required in Wisconsin to qualify for ABA (applied behavioral analysis) therapy, which was specifically recommended as something that could highly benefit Teddy. A number of providers do not serve children as old as Teddy, so that limits our options. A lack of qualified staff means that wait lists for after-school hours are 8 months to a year. Yep, you read that right.

So Teddy is on a wait list for a local provider in Oshkosh that serves only after-school hours for Teddy's age, with the potential to start in fall but realistically next January. That provider would be extremely convenient as it's after-school hours, but it's only 8-9 hours a week. While that might seem like a lot, and it's far more than he's receiving now for therapy, I'm not sure it'll be enough to help him make the progress we want for him. 

That means he's on a second wait list for a provider in Appleton, about 30 minutes away. That provider already has done a parent assessment (a detailed 1-hour interview with me), and Teddy is scheduled in May for an in-person assessment. Their recommendation is 10-20 hours of therapy a week, leaning toward the 20 hours to accomplish the goals we discussed including toilet training. Needless to say, that's daunting, though I can see how beneficial it could be. The tentative gameplan is that he'll hang on the waitlist until summer and then start therapy 4 hours a day (9-1) 5 days a week. Then we'd hope and pray that come fall he could get slotted into afternoon hours (1-5) and set up his transitional IEP to middle school to accommodate this. I'm not as concerned about the transitional IEP as I am in getting the afternoon hours because the wait list for the 3-5 time slot is 8 months to a year right now. But we'd have to figure out afternoon hours or else he'd never be in school.

It's hard to know which is the better option, though it's easy to know which is least disruptive to our lives. But the disruption may be worth it to eliminate reduce the daily challenges. So we'll continue to pray, ponder and wait. 

And how we make any of this work, I don't know yet, even for the summer hours, because we still have to line up childcare for this summer. But I remind myself we're doing this for good reasons, and while ABA therapy is a lot, it's exactly what we hoped in terms of additional resources and ways to better support Teddy.