The Best Big Brother Ever

God knew that Teddy couldn't have just any sibling.

He knew that Teddy needed a brother, someone to wrestle with him, fart on his belly and model the way to do things. He knew Teddy's brother needed to have (or develop) incredible patience to handle the challenges encountered daily with Teddy. He knew Teddy needed a brother with attention to detail, someone who would notice when Teddy wanted a drink simply because Teddy stared at a cup on the table. He knew Teddy needed a brother with tolerance, one who could handle when Teddy destroyed his creations, ate his food or invaded personal space that doesn't exist in Teddy's mind. He knew Teddy needed a brother who would be curious, interested in learning more about how to help Teddy and understanding Teddy's diagnosis. He knew Teddy need a brother with acceptance, one who would love his brother unconditionally, even if Teddy occasionally drools on him. (Eww, gross!) He knew Teddy needed a brother who would be selfless, who would often inadvertently not be the center of attention when Teddy's health or challenges forced us to focus primarily on Teddy. He knew Teddy needed a brother with a kind heart, one ready to help his brother with tasks of daily life and special projects to brighten his days.

That's why God gave us AJ as our first child, Teddy's older brother.

We could not be more proud of AJ. He is everything that Teddy needs, except for the rare days that he still head butts Teddy because, well, he's human. There have been a couple things in the past few weeks that show perfectly what a tremendous brother AJ is.

When we went to the MTT track meet a few weeks ago, AJ spent the drive there inventing a camera that would enable Teddy to take pictures. It was essentially the camera app of a tablet except on a camera with a touch screen that you tap to take photos. He had other elements to his design, but I'd hate to ruin his patent before he gets that all finished. AJ was so excited about making a camera that was adapted for Teddy and "other people with diagnoses" to use to take pictures. He was even plotting out who he could consult to help make a prototype of this design, and my brother better watch out the next time AJ sees him.

Then there was World CDG Awareness Day last week. AJ proudly wore his shirt and spent the day quizzing us up with 101 questions about CDGs. He was rather disappointed that none of his classmates asked him about his shirt and that he only got to give a card explaining it to his teacher. He then asked me to ask his teacher if I could come explain CDGs to his class. Given that he's in kindergarten, I suggested a more general approach of how some people have different challenges, how people can communicate without speaking and how all kids want to play with others and have fun. So we're working on that for next week in his class because he wants to help others understand.

So proud. Such a horrible smile for pictures. 

And today he came to visit Teddy during the dreaded 24-hour EEG. Not only did he help me pack a few toys for Teddy, he brought a "treasure chest" that he created for Teddy from a cardboard box filled with more toys. He spent two hours playing with his brother, asking a bunch of questions about EEGs and making Teddy's evening better simply by being there.

Best brothers ever.

We're mighty lucky that God knew what Teddy ... and we ... needed.

I'm Going On a Trip, and I'm Taking ...

Remember the game where you list all the things you're taking on a trip? I think there's different versions where people have to guess what the secret is to how to pick what you're taking or you have to remember what each person is taking. Here's my version:

I'm going on a trip, and I'm taking:

• Legos
• Magnetic toys
• Chewelry
• Pacifer
• Snuggly Blankets
• Books
• Lock puzzle board
• Pretend retractable knife
• Playdough
• Magic sand
• Bristle block stackadoos
• Wooden puzzle toy
• Mouse and cheese string toy
• Lacing shoe
• Jar of empty thread spools
• Roll of yarn
• Buckle toy
• Tablet
• Two toy cars
• Magic markers and paper
• Singing puppy toy (I just added that to my trip pile.)
• Rubber ducky
• Old wallet
• Sippy cup
• Backpack with stuffed animals

Can you guess where I'm going for my trip?

It's a 24-hour inpatient EEG with Teddy. Tomorrow. I had a legitimate nightmare about this a week ago and have been doing my best to avoid thinking about it. I don't sit well. I don't stay still. Neither does Teddy. Add in the fact that Teddy hates medical procedures and rooms and anything that remotely seems medically related, and I'm sure you can understand my nightmares.

Please, oh please, keep Teddy entertained oh magical suitcase of toys.

But, it's what we need to do to make sure he's at an effective dose of Keppra that there are no seizures. We were hoping to wait until school was done but realized we needed to do it as soon as possible after the last seizure in April. We want to make sure we're at a good place with his anti-seizure medication before we head halfway across the country on vacation. 

We've done several EEGs and even a sleep study at NIH (which was horrid, might I say, even if I wasn't the one who spent the night with him) but never a 24-hour inpatient one. The plan is to sedate him for the placement of the EEG leads instead of me holding him for 30 minutes or so while he screams hysterically while they place him. We're hoping that's the right decision that he'll wake up without being annoyed by all the leads and funky hat or at least less miserable than if he were awake for the process. I'm hoping the anesthesia goes well and doesn't have any side effects ... like seizures days later, which is what I think happened in April. To be honest, when they offered the option of sedation, I thought they meant more along the lines of a sedative to help him calm down and remain calm for the lead placement rather than full-blown anesthesia.

Once we get past the lead placement, then the challenge is to keep him occupied and content in a medical room for 24 hours. I'd be much less nervous if we were able to go the play room and wander the halls, but we need to stay in the room on camera for the EEG to be most effective. Hence the largest suitcase we own is almost entirely filled with toys.

Dave and AJ are coming up after school is done, so we're hoping that an hour or two of playing with AJ will be a nice form of entertainment for Teddy. AJ has already planned to save some of his tablet time to help Teddy play games on his tablet and is making him a treasure chest with toys to bring when he comes to visit. AJ really is the best big brother.

Then I'll head home with AJ while Dave takes the night shift because Dave is much better at getting Teddy to sleep than I am a saint. As soon as AJ gets on the bus Wednesday morning, I'll head back to Green Bay to relieve Dave. He'll go to work, and I'll finish out the EEG with Teddy. 

I'm crossing my fingers that he'll make it to school Wednesday afternoon, but I'm not holding my breath on that. We have a backup plan if we won't be home by the time AJ gets done with school. But, as I said to that person, if we're still at the hospital at 2 p.m. on Wednesday after getting admitted at 7 a.m. Tuesday, I'm going to need a lot more than you just watching AJ for a couple hours. Like sanity.

And as I told my mother-in-law, we have a suitcase of toys packed. We should be good ... at least until the anesthesia wears off. 

It needs to happen. It will likely suck. But it'll be done by sometime on Wednesday. 

Happy World CDG Awareness Day!

Right now, May 16 is my favorite day of the year. It tops Christmas and my birthday. It's World CDG Awareness Day, and our family has felt so much love and support. We know we are incredibly blessed to have a tremendous village of family and friends who help us with the struggles we encounter with Teddy. Today's support came in the form of morale support and a willingness to put themselves out there to raise awareness for Teddy and CDGs.

I was in awe that I placed an order for more than 50 shirts for CDG Awareness Day. I mailed them across the country and even to Poland for a family there whose sweet daughter has CDG. I also printed business cards that explained CDG and shared Teddy's blog, which I saw people sharing on Facebook and heard stories of handing cards out to others.

One of my favorite posts I read today was from a friend and co-worker who was at a baseball game this evening with her wife: Kerry Blondheim, the day of education continues ... CDG Awareness and education at the Fox Cities Stadium!! So many people are asking questions about our shirts and what CDG is. I promise we are doing our best to educate and share Teddy's story!!

So much love for all of this! Here's the photos so far, and I'll update as I get more collages put together. Happy World CDG Awareness Day!

What Exactly is CDG-PIGN?

I'm glad you asked.

It's a really big mouthful of words that include Congenital Disorders of Glycosylation affecting the PIGN gene. It groups together at least two more specific diagnoses and includes variations of different genetic mutations all on the PIGN gene. Essentially, at least from what I understand, is that each child with CDG-PIGN has a different abnormality within their PIGN gene, which means the disorder presents in different ways and levels of severity.

It's known as a GPI-anchoring disorder, if that means anything to you. It doesn't really to me, but I know that it impacts how things work on the most basic level within a body processing sugars. Not sugars as in all the candy and ice cream a person might consume, but the sugar molecules within our bodies. Basically, things don't attach where or how they are supposed to, which affects essentially the entire body.

I know it sounds confusing, which is why the Portuguese Association for CDG and other Rare Metabolic Diseases put together an infographic explaining CDG-PIGN. It still uses a lot of big words and might require some Google searches of unfamiliar terms, but it's the easiest to read explanation I've seen.

One of the other moms in our CDG-PIGN group connected me with the Portuguese Association, and I was able to provide them with information from our group about skills, therapies, prognoses and number of diagnosed cases that aren't included in research papers, along with a bit of native English-speaker proofreading. They were so awesome to use a picture of Teddy as the inspiration for their graphic designer for the cute kiddo on the poster.

Check out this link for the infographic in a size and format that you can actually read. But here's a picture of the cuteness to go along with the information. As AJ said, it doesn't look exactly like Teddy, but we can see the resemblance in the spiky hair, dimples and smile.

This is a great resource for families newly diagnosed with the disorder.

What Does CDG-PIGN Look Like?

A few years ago, I shared The Smiling Faces of PIGN, featuring the other families we knew who had the diagnosis of CDG-PIGN. In the past two years, we've added to our wonderful collection of families. We've been joined by more families in the United States, as well as Belgium and the Netherlands. In fact, as I was drafting this post, a mom from Qatar joined our group. (It's incredible how the Internet can connect us throughout the world.) With World CDG Awareness Day coming up on May 16, I wanted to introduce you to some other amazing children.

Australia

Brianna and Zach are sister and brother from Australia, who also have another brother who is unaffected. These two are still the happy smiley kids that I introduced to you in the The Smiling Faces of PIGN. Brianna is now 15, and Zach is 10.

Miss Brianna is all smile.

Zach is extremely proud of his school citizenship award.

Poland

Emily, or Emi, is one of the children who you met in the The Smiling Faces of PIGN. Emily turns 7 this July. After several years of searching for a diagnosis, Emily was diagnosed with CDG - PIGN. It was scary for her family because her doctor said she was the third family in the world. After a few months of searching with the help of doctors from around the world, her mom connected with another family and started our incredibly awesome Facebook group that's connected all of us. As her mom said, "It is wonderful to cooperate with such great people." Emily loves different voices, especially those of children and Elmo from Sesame Street. She loves bare feet and hates wearing socks and tights. Despite the challenges she faces, she is a joyful child.

Emi loves to be barefoot!

United States

Arizona

Mateus lives in Arizona, but his family is originally from Brazil. Mateus just turned 8 this April. He is a fun and sweet boy who loves going to school and swimming. He has recently learned to point, and now has been practicing on sitting up independently, which is pretty amazing considering all his diagnoses. He fights his CDG-PIGN, Mitochondrial Disorder, CP and Epilepsy every day, along with all their complications, all with a smile on his face. Mateus couldn't make his family more proud!

Mateus has the most wonderful smile!

Colorado

Brenden is a sweet 5-year-old boy from Pueblo, Colorado. He loves tackling his brothers, daddy and puppy. He loves jumping wherever and whenever. Also, if anything has wheels, Brenden is a fan!

Brenden is always on the move and nearly always smiling!

Florida

Vivian is a 9-year-old girl who spreads joy wherever she goes. She lives with her mom and dad just outside Orlando, and she has an older sister is grown. In addition to having a variant on her PIGN, she is partially missing her corpus callosum. She has a lot of challenges, particularly seizures when ill. She is non-verbal and has challenges with her gross and fine motor skills. However, that doesn't stop her from having a good time, being silly and laughing at the goofiness of others. She is extremely affectionate and loves being held. She also loves Barney and her swing set when she's feeling well enough. You won't see her adorable smile, though, if you're brushing her hair or teeth, making her sit still or trying to keep shoes on her feet.

That smile! Those pigtails! Vivian is adorable!

Zach, age 16, and Ryan, age 13, were diagnosed with a variation of CDG-PIGN in December 2016. These brothers had previously underwent numerous tests, with all results coming back "normal." Both boys are able to compensate for their gross motor hypotonia but struggle with speech and fine motor skills. Zach is more intelligible than Ryan, but make no mistake, Ryan gets his point across clearly.

Ryan ordered his own drinks (non-alcoholic of course) on a recent cruise trip.

"We try to give the boys as many experiences as possible and love to travel with them," says their mom Kristen. "Their joy is contagious, and while I often struggle with the things they can't do, my boys don't seem to know their own limits! They cruise through life with a positive attitude and a smile on their face."

Zach showed no fear, and excellent balance, conquering this high ropes course!

"Pretty soon," she continued, "we will have to start making decisions about what adulthood opportunities they will have. But no matter what, we know they have value and will contribute to society in a way that is as unique as they are."

Illinois

Aniyah is the happiest girl with a beautiful smile. This 4-year-old girl has two older siblings who are not affected with CDG-PIGN. (CDG-PIGN is a genetic condition, so there's a 25 percent chance of a child having the diagnosis if both parents are carriers of the recessive genetic mutations. There's far less than a 1 percent chance of two people having the recessive mutations, which is why CDG-PIGN is so rare.) Although Aniyah cannot talk, she makes sure her voice is heard.

How can you not smile when you see Aniyah?

Samantha is another familiar face from The Smiling Faces of PIGN. Sammie lives with her family in Arlington Heights, a suburb northwest of Chicago. She is 11 years old. Sammie is a joyful, determined, strong-willed and social girl. She loves life and enjoys familiar experiences. She loves playing sports, music, dancing , face-paint and going to the zoo. She has a great sense of humor and loves to laugh and to make others laugh. She adores her brothers (Matthew, 14, and Benjamin, 13), family, friends, teachers, therapists and doctors. She tries to make a connection with everyone she encounters. For a child who is essentially nonverbal, she does an unbelievable job of getting her point across. She has developed her own signs for many activities, places and people. She also uses a "talker" to help her communicate.

Sammie had her first seizure when she was 3 months old and still struggles with seizure control. She has been on the ketogenic diet for 6 years and it has helped her more than any other medication. She attends a public school but is in a self-contained class. She absolutely loves school, especially when there is a field trip! Sammie has an abundance of joy and shares it with everyone she meets.

Maryland

Alexa is a sweet little 5-year-old girl who was also introduced in The Smiling Faces of PIGN, along with her sister Holly who passed away from CDG-PIGN. In the past two years, Alexa has made significant improvements in therapy, rolling from her back to her belly without getting her arm stuck, which is huge for her. She's working on sitting up with assistance and getting better control of her head. She does aquatic therapy and is a fish in the water, moving her arms and legs to propel herself. Alexa had a VNS implant this past year, which is a pacemaker-like device that is inserted into the chest wall to help control seizures. Alexa has been fortunate to have the VNS significantly reduce the amount and severity of her seizures. 

Our family had the opportunity to meet Alexa and her family this winter.

New York

Rego, 6, and Lennon, 4, are brothers who live with their parents and aunt in a little town in upstate New York. Seizures, delays and plenty of questions led to a diagnosis in March 2015. Their mom details their journey in her blog: www.queenofsilverlinings.wordpress.com

In the words of Jillian:

Rego and Lennon have far exceeded what was ever expected of them. They make slow progress ... at their own pace, but progress just the same. Rego is more than half way through kindergarten in a public school. He's in a small classroom with a 1:1 aide. He receives adaptive gym daily, OT, PT and speech. He just started to use an iPad with Proloquo2go app to communicate, and it's amazing so far! He is happy and social. He loves school and making friends. He loves sports and music. The Yankees are his favorite team, and he could probably ump a MLB game. He is sweet and sensitive, a friend to all.

Rego has been rocking kindergarten, learning to write his name!

Lennon attends a half-day program at an integrated preschool. He gets OT, PT and speech. He loves to learn all that he can. He likes to do it all, and do it by himself. He has all the confidence and none of the fear. He's the wild child, loose cannon and lovingly, my "arch nemesis." He is very busy, but he'll slow down occasionally for a hand hold or snuggle. He loves to get a good laugh out of people and has the sweetest dance moves and singing voice.

They work hard and steal the hearts of most everyone they meet. I'm beyond lucky and grateful to be their mom and travel this path with them.

Lennon is his mom's sidekick and arch nemesis. 

Oklahoma

Maddison lives in Tiawah, is 5 years old and full of life. She smiles all the time. Her favorite thing is her chewys. (We've noticed many of our children with CDG-PIGN have a strong desire to chew and chomp, so chewys and chewelry are designed for that.) She has really struggled with seizures and urinary issues but recently had a VNS and bladder surgery to hopefully turn that around. Maddie loves people and makes everyone around her smile as well. 

Maddison was adopted when she was 3, but she was in and out of our home before her adoption. Her seizures have progressed with age. Maddie is non-verbal and non-ambulatory, but she is learning to use her wheelchair. Maddison is a blessing to everyone she meets. 

Maddie is full of joy!

Pennsylvania

Julia turns 2 this July. She was diagnosed with hypotonia at 6 weeks, began having seizures at 4 months, and her family received her PIGN diagnosis this past January. Julie can roll and laugh and gives a mean squeeze when hugging! She is learning to pull pegs and drop them in a bucket as part of her therapy and loves being read books. She has a half brother and lots of cousins and family who adore her to the moon and back. Her family's nickname for her is Joyful Julia.

Her nickname is Joyful Julia!

Wisconsin

Last but not least is Teddy. Teddy will be 5 this July. In the past two years, Teddy has accomplished so much as well as scared the ever-living daylights out of us with wicked seizures after a long seizure-free period. Teddy absolutely loves his half-day early kindergarten program, including the bus rides.He's made tremendous progress in school, including making a "best friend," who's been to our house several times for play dates. He's mastering his adapted tricycle, except for steering, which he deems optional. He's learned to point to things he wants, including Culvers when we drive by the restaurant. He's working to learn his "talker" and continues to enjoy horse therapy, as well as speech, OT and PT. He's learned to walk, run and jump, although his coordination often resembles a bull in a china shop. His favorite things include his older brother AJ, who is 6, shoes and anything else with laces, buckles, vehicles and being outside.

This cutie spent a week at NIH to participate in a study on CDGs.

Track Superstar!

This week Teddy participated in an inclusive track meet with myTEAM TRIUMPH and Xavier High school. This was the third year the event has been held, where the entire track team participates as angels for MTT captains. The meet consisted of different events, including 100 meters, 200 meters, 400 meters and different relays. No hurdles, though. I wonder why?

Teddy's team had 9 angels. Trust me, AJ counted, and he should know since he spent every possible moment with Teddy's team. There was time for the team to get to know Teddy and work on a sign to cheer for Teddy throughout the event. AJ helped them design the sign, sharing that his brother is kind of a tornado. AJ helped Teddy draw a tornado and then proceeded to add quite a few details to the team's poster. (Then he spent an equal amount of time explaining the poster to anyone who would listen.)

So proud of the sign he helped Teddy's team create!

This was such a fun event for the captains because they got to fly on the track. Normally MTT events are at least 3 miles if not 26 miles, so the pace isn't always that fast. This, on the other hand, was sprinting distances with a group of young, energetic and competitive angels.

Teddy almost always was looking behind his chair. Goof.

AJ enjoyed the entire event, cheering his heart out to the amusement of all the other parents around us. Teddy loved the attention from his team and only escaped once or twice. I basked in the glory of watching my kiddos in their element and enjoying the incredible experience.

We've done a number of events with MTT, each special in its own way. This was among my favorite, largely because of how much AJ enjoyed the event while being an incredibly supportive big brother. His only complaint when we left was, "I wish we had more time to play with the angels."

Team Teddy with their unofficial team manager AJ.

It's also so neat to see an entire team of high school athletes embracing captains with a variety of disabilities, including at least 4 captains who are non-verbal. Those who were angels for one young man who uses sign language were trying to understand his signs. I saw other young athletes discussing roller coasters with another captain. It's such a great, non-threatening way to embrace diversity and inclusion.

As an added bonus, Teddy was featured today with a half-page photo in the local paper, along with one of his angel athletes. Kid is a celebrity.

Just a Swinging ...

So in between Teddy's adenoid surgery and seizure episode, he made it to school one day. That's the day his teacher sent me a video, along with a note saying how long Teddy had been trying to figure out how to pick up his legs to swing from the trapeze bar. I love the days we get these type of updates!