Clinical Genomics

Genomics is a fun word, isn't it? Like economics, but with genes. Sheesh, it's been a long week at work, which is why I'm starting out with a ramble. I swear there is a point to this post, though. 

At the World CDG Conference, I discovered that Mayo Clinic has a Department of Clinical Genomics. Mayo Clinic is approximately 4 hours from our home and about 2 hours from our land. This was news to me as I had thought the only CDG-specific clinic in the United States was at CHOP in Philadelphia. Philadelphia was simply too far to travel for a consult when Teddy is stable and doing well.

But to have experts that close to home? It's absolutely worth working with them to coordinate Teddy's care. Teddy has a good pediatrician, a phenomenal neurologist, a wonderful physiatrist and a great team of therapists. But there's no one on his team with expertise with CDG, so they each treat his symptoms within their specialty. It truly does meet his day-to-day needs.

However, it leaves the burden of learning about CDGs, potential studies and new developments to us as parents. We had hoped to have our genetics team provide the latest in research and get Teddy into research himself. We realized pretty quickly that since Teddy's puzzle was solved, genetics had no interest in looking at the same puzzle again and moved onto other new puzzles and diagnoses. I know that team was incredibly busy and backlogged, but it was still a disappointment. 

So we've managed, largely by sharing information among our PIGN Facebook group about medications, primarily for seizures, and research opportunities. It's hard to describe how excited I am to have Teddy seen and followed by an expert in CDG.

Seriously, his doctor's bio is beyond impressive. Not only has she heard of CDG, she's been instrumental in the discovery of several. Not only is she aware of research opportunities, she's leading one of the current studies. (We already got the consent and completed it, so Teddy will join that study with his upcoming visit.) I know this won't likely drastically change anything for Teddy, but I'm excited about the doors it may open and the additional knowledge we'll have.

His appointment is July 16, so I'm sure I'll provide an update after that. I don't think they've seen another PIGN kiddo there, so Teddy may be a novelty to them. But they know the overall diagnosis, and that's incredible. The only other time we had that was at the NIH when we went there for the week-long study. An added bonus: this study is mostly paperwork, with optional urine, blood and stool samples. That's far more doable than another week filled with every medical test known to human kind. 

So Many Faces, So Many Countries

When we first connected with our PIGN-CDG Facebook group, I believe there were at most 5 other families who had a child or children diagnosed with PIGN. It was a monumental day when a new family joined because it happened once or twice a year. I could tell you each child by name and location, along with their parent(s). 

In the past two alone, we've had 3 families join our group from 3 different countries. Let's just say I can't keep up with everyone any more. And I'm OK with that because it means we all have a greater support network, people to pray for us, root for our children and share their lived knowledge. 

One of the other moms compiled this video of the vast majority of our group for World CDG Day. It's obviously missing the 3 newest families, along with just a handful of others from our group. My thanks to Ashleigh for her advocacy for all our PIGN families. She is one of the most welcoming and supportive people you could imagine, who has kind words and honest support for everyone in our group. She was the first other parent we connected with after Teddy's diagnosis, and it felt like we were instantly close friends. I greatly appreciate her efforts in putting this video together and letting me share our children with the world. 

If you've ever wondered what PIGN-CDG looks like, or whether there's anyone in your country with this disorder, please enjoy our beautiful, determined children.

CDG World Conference: CDG Basics

This year the World CDG (Congenital Disorders of Glycosylation) Conference was hosted entirely virtually, which enabled me to attend and even participate as a panelist for a session. This event typically rotates between San Diego and somewhere in Europe, every other year. That travel component and cost has been the primary reason I haven't attend in prior years. After my experience this year, I might need to invest in plane tickets in the future. 

The conference was 4 days, which is mighty long for a virtual conference with back-to-back 6- to 8-hour zoom meetings. However, it was well worth the screen time. There were a variety of sessions, some more valuable to me than others.

One of the most useful to me was essentially CDGs 101, an introduction and overview to the variety of CDGs. Here's a few of the most interesting things I learned or relearned:

1. The first CDG was discovered in 1980 by Professor Jaak Jaeken. In fact, World CDG Day is celebrated on May 16 in honor of Professor Jaeken's birthday. Although he turned 80 this year, he is still one of the most active and prominent advocates for CDGs. 
2. The first CDG discovered was PMM2, which is also the most common CDG, not surprisingly. In 2009, there were approximately 40 known types of CDG. Now in 2021, there are 161 known types with more added each year. Teddy's PIGN-CDG was first discovered and documented in research in 2011.
3. All CDGs are metabolic disorders that affect how glycans (sugar-building blocks) attach within the cellular level. There are different pathways that are affected by different CDGs. The conference shared that currently there are known to be 3 types that are lipid linked, 27 GPI-anchor, 34 that are N linked, 46 that O-linked and 56 that are multiple pathways. I wish I could you specifically which type PIGN-CDG is with certainty, but honestly I'm not certain. I am confident it's GPI-anchor, but it may actually be multi-system with one of those being GPI. If you figure this out, let me know.
4. CDG affecting the same gene can result in multiple diseases or presentations of disease. To some extend, that's why we see such dramatic differences in the functioning level of our PIGN children.

I will work to share additional thoughts on the conference in the future, but I don't care to bore you with all the fascinating things all at once. 

Professor Jaeken still advocates for the CDG community at the spry age of 80.

Teddy is Bilingual

We're actually hoping to have Teddy become trilingual as we reintroduce a communication device. We're waiting to work through the insurance or funding process for that, so it'll be a few months. In the meantime, though, Teddy is able to comprehend and speak in essentially two different languages.

Although he cannot communicate verbally, he understands spoken words. Whether he chooses to follow directions or requests is much less a matter of comprehension than his desire to do the task at hand. Most times, I'm certain he understands us and simply chooses not to do what we're asking. That's proven time and time again when he can follow directions and listen quite well when he's motivated. Just yesterday, in fact, he listened to my request that he go back and shut the door to the house before he took off down the driveway. I was quite impressed.

Teddy's main method of communicating, beyond physically directing you to do his bidding, is modified sign language. I say modified because his signs aren't clear to those who don't know him. They're a bit sloppy at best as he works on his fine motor skills, but he understands he needs to replicate some motion to make requests or communicate.

What I found really cool the other week was that Teddy understands at least some signs when they aren't verbally spoken. Most often, we speak and sign at the same time. However, the other night, Dave simply signed to Teddy to sit when Teddy was waiting at the counter to grab his dinner plate. Teddy immediately went to the table and sat down. It was noteworthy to me because it is clear that he understands both the sign and the spoken word that accompanies it. We can use either with him, or we can use both to reinforce ideas. 

It might seem like Teddy isn't as intelligent as others because he cannot express himself verbally. But when you take a minute to think about it, you'll realize how amazing it is that any person can understand spoken words, use sign language and/or use an adaptive communication device. That's far more language skills than the multitude of Americans who only speak a single language.

World CDG Awareness Day

 Happy World CDG Awareness Day! May 16 is the day that highlights Congenital Disorders of Glycosylation or CDGs. At the most basic cellular level, the sugar-building blocks, called glycans, do not develop normally. This impacts every aspect of development, with varying effects in differentc children. The reason this day is even on our radar is that Teddy's diagnosis fits into the category of a CDG. Teddy has CDG-PIGN.

CDG-PIGN (also diagnosed as Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1)) is one of 161 known types of CDGs. As a whole, research for CDGs is limited due to the complexity of each CDG, the biodiversity of CDGs and the low prevalence of CDGs in the general population. All CDGs are rare, and each subset is even rarer. To our knowledge, based on research papers and our connections throughout the world, there's perhaps 150 people in the world diagnosed with CDG-PIGN. That's a generous estimate.

Of course, that doesn't mean there aren't more people in the world who have CDG-PIGN. The diagnosis for this disorder comes from whole exome sequencing, which is an expensive and frankly bureaucratic test to obtain as it's not widely covered by insurance. That's why it took us 2 years to get Teddy's diagnosis from the first noticeable symptom (seizures). 

When we got Teddy's diagnosis in November 2015, our genetics team told us they wanted to write a paper on Teddy since his diagnosis is so rare, and he presented differently from the other limited research papers in existence. We were told they were very busy and backlogged, so it would likely be at least a year. Guess what? It's been nearly 6 years. I've given up hope that our original genetics team will ever write that paper. We had someone else who was presenting a paper with Teddy included last year, but COVID derailed that.

Aside from the difficulty in getting a diagnosis and the lack of current research, there's also the reality that Teddy's diagnosis didn't drastically change his medical treatment. He was already in various therapies to work on building his fine motor, gross motor and speech skills. He had a few other tests completed, as precautions, but those yielded no abnormal results. He already had a neurologist to manage his seizures. He would have qualified for specialized services at school, as he was in the early intervention program for his delays.

That's the reason I've said his diagnosis changed nothing, but I've also said it's changed everything. What changed for us is that we have a place where we fit, with a small group of other families who share this diagnosis. There's an instant connection with these families, and they're a terrific resource in finding answers to questions that we can't get answered elsewhere. That has been the most beneficial and life-changing impact of receiving a diagnosis.

In past years, I've shared a glimpse of other children with CDG-PIGN. I'd invite you to get to know other children who share with Teddy not only genetic abnormalities but strength, preservice and joy. This is the most encompassing post, although our group has grown in the past 2 years: https://teddystriumphs.blogspot.com/search?q=smiling+faces+of+pign

And if you're wondering what you can do, share this post. Tell a few other people that you know or learned about this rare disease. The more we raise awareness, the better the odds of research gaining traction. 

Happy Belated Mother's Day

I still remember the years when we struggled to have children. I had some health challenges, and we were told it was unlikely we'd ever have children naturally. God had other plans for us, though, and we were blessed with AJ in 2011. Teddy came along with relative ease in 2013, and I think that's when the definition of "relative ease" changed forever. 

As I look back, the journey to having children seemed so long and painful (mostly emotional although some of those fertility testing procedures appeared to be medieval forms of torture). In reality, it was only a couple years and not a big deal in the grand scheme of life. I wonder how much of the challenges of today will fade as time passes?

Many expecting parents simply say they want a healthy baby, that's all that matters. Me, I was a bit more honest that I preferred boys. In fact, when we were contemplating a third child, my answer was that I'd be on board if we could guarantee the baby would be healthy and a boy. Given our PIGN mutations, the first wasn't a guarantee and there's never a guarantee on gender.

Our parenting journey hasn't been what we expected. There's a poem called Welcome to Holland that truly does capture what the initial unexpected diagnosis felt like. Parenting a child like Teddy has such beauty of it's own, but sometimes it's challenging because it's not what we expected and never will be.

So, I'm going to pay tribute to five things that are amazing and wonderful about being the mom to both of my boys.

I'm grateful to be AJ's mom because:

1. His love of learning is intense. He devours books like he does ice cream. He shares such random and accurate facts that often amaze me. 
2. He's now in a joke phase with his joke book. I enjoy guessing his puns and then sharing them with my co-workers.
3. He has the kindest heart. He is generous with his gifts and looks for ways to brighten other people's days. The empathy is strong with this one.
4. He's a great companion for bike rides. We have good conversations, and it's easier to chat as we do those type of activities.
5. He's our hiking and camping buddy. He's been camping since he was little, and we create special memories taking him into the backcountry.

I'm grateful to be Teddy's mom because:

1. We have found such a wonderful community with our CDG-PIGN families. We now have friends from around the world who understand our world because they live in it.
2. We have also found the myTEAM Triumph community. Although I was always interested in volunteering there, the catalyst that made me show up was that Teddy could participate. It's now a family event (when COVID isn't happening) and has also provided us with incredible friendships and support.
3. Teddy brings so much joy into the world. His smile lights up a room, and a visit from him does wonders for people (especially when they can return him afterward). He can make you feel like the most special person in the world with his excitement to see you.
4. As stubborn and persistent as I am, I'm truly no match for Teddy. This kid is sheer determination. That has enabled him to accomplish all that he has because he truly never gives up. It's a wonderful quality when he applies that trait to positive purposes, not so much when he's scaling the Tahoe or trying to destroy my sanity.
5. Teddy helps me see things from a different perspective. There's time he forces me to slow down and appreciate the little things. When he thinks something is fun, he is determined that you do it, too, lest you miss out on anything fun. He lives in the moment and helps me do that same at times.

They're bigger now, but I'm still lucky to be their mom.