Monday, March 28, 2016

Babbling Boy

I haven't posted in more than a week because we're in California on vacation. No Disney for us. Instead we're exploring our national parks.

I'll save all the vacation stories and pictures for when we return, but we've survived the first week complete with a flight from Wisconsin to Vegas, more than 1,000 miles driven, a couple rounds of puking and more.

Two nights ago Teddy decided he wanted to stay up late and find all the Easter eggs before AJ. Although we wanted him sleeping, we couldn't help but smile because Teddy was babbling.

This was the first time Teddy has ever babbled. He's often fairly quiet and rarely makes consonant sounds. But heres what he did.

video

I'm pretty sure he just wanted to rat me out to AJ that I was really the Easter Bababa-unny.

Thursday, March 17, 2016

Special Ed for Special Ted

Yesterday we had the initial meeting with someone from the school district for Teddy. She gave us basic information and got to meet Teddy to understand who should be on the team for his assessment. This is part of his transition plan since oddly enough Birth to Three won't allow Teddy to stay in the program once he turns 3 no matter how adorable he is.

For the most part, I'm really excited for Teddy to go to school.

It's not because I'll get a break a few hours a day because 2 hours of school a couple days a week really just makes scheduling the rest of life (like work, therapy, medical appointments, etc.) more complicated. (I won't lie, though. There is a small part of me that thinks about everything I could do home alone uninterrupted for 2 hours. The possibilities are endless!)

The reason I'm excited for him to go to school is because I think he will love it. He is such a social little boy who usually perks up when there's other people around, even if he's crabby to start. I think he will thrive in the social environment with other children and adults. I also believe it's a good possibility that his skills will increase solely from watching other children do things and attempting to do the same. That's how he learned to slide down the stairs on his belly. He watched his brother and cousins fly down the stairs and thought it looked fun.

I'll save all my anxieties about how he'll adapt without AJ and vice versa. (AJ doesn't want to go to school because "I'll miss Teddy.") And I'll push back all my worries about what will happen because no one he knows will be with him, and AJ won't be along to report back to us what happens. There's no sense in fretting over the fact that life will become much more complicated because his team will include a speech therapist, OT, PT, nurse, psychologist and his early childhood educators. None of this will happen until fall, so it's pointless to spend my time worrying. And the bottom line is I know this will be a great thing for Teddy.

There's one piece, though, that stings already. I had to complete a few informational forms about Teddy, and it's hard for me to do that without tears. Anyone who knows Teddy sees his personality and what a remarkable boy he is, but any time I have to fill out these types of forms all I get to do is check boxes showing everything he cannot do.

I understand fully why this information is necessary. I understand the need for explaining to others why he needs certain services, qualifies for whichever program, etc. I know providing this information benefits Teddy. But as his mom, it's one of the things I hate doing most because I get sad ... or mad.

One form I filled out yesterday hasn't been revised since 1998. I wasn't too fond of one of the phrases used, especially since it was one I had to check for Teddy:

This is the paperwork I had to complete for Teddy.

I know mental retardation was used as a legitimate medical term and medical diagnosis. However in the past nearly two decades, that phrase and even diagnosis has been updated, even in the medical field. I know it's still used in some situations, but does it really need to be on an informational sheet for a 3-year-old going into the school system?

I'm sure some of my irritation comes from the fact that I despise filling out these forms in the first place, but checking that box still made me give Teddy some extra snuggles and hugs and tell him how awesome he is.

And I was glad there was a comments section on the form. I tried my best to be non-offensive.

Will this change anything? Maybe not. But perhaps no one's really looked at the wording in the past decade.

Tuesday, March 15, 2016

Vacation

We've never done the typical relaxing vacation. Our honeymoon was probably as close as we ever came, and that still involved a fair amount of hiking. It's also when we fell in love with the idea of exploring all our national parks, camping and hiking our way through them.

And that's what we've been doing for nearly the past 10 years. We've hiked more than 50 miles across Isle Royale National Park, hauling all our stuff on our backs. (That first day before we redistributed our weight nearly killed me. Something about carrying half my body weight on my back.) We've camped on a nearly deserted island at Dry Tortugas National Park.

This is after hiking across Isle Royale with our packs!

When we had children, we didn't let that stop us from our adventures. Our children have seen more of this country than many adults. AJ turned one on our trip to Acadia National Park. Teddy turned one while we were at Crater Lake National Park. AJ turned 4 when we were at Saguaro National Park. (We managed to sneak balloons into our hotel room to surprise him!)

Happy 1st birthday Teddy! Celebrating in style at Crater Lake.

As the boys have gotten older, they've been able to enjoy the experiences a bit more. They get tired of riding in a vehicle, but I don't blame them after a couple thousand miles. It's pretty awesome, though, to watch your 4-year-old hike all the way up to Delicate Arch powered by his 2 little legs and some M&M energy. (We've discovered the key to AJ's ability to hike instead of complain is directly related to the sun. He hates the sun. If it's cloudy, he can hike. If it's sunny, he wilts.) And Teddy enjoys spending time with us, hopping around our tent or hotel rooms.

It's always a bit tricky to get a good family photo. Everyone is at least visible here.

These type of road trips are more of a hassle when they involve toddlers or young children, particularly when one child has special needs. Although Teddy doesn't have much adaptive equipment, we still need wheels to get him around, carriers to save us from lugging the 35 lb. lovable lug, high chair for picnic tables, special cups so he can drink and such.

And you know what? We know that each trip with Teddy has the potential to be more challenging than the last. He's still small enough that we can load him into a carrier for our hikes. At some point, that won't be a possibility. Like I said, he doesn't have that much adaptive equipment. That might change.

AJ likes to scamper ahead on rocks, kind of like his mom.
We don't take these things for granted. It might be hard to do these kinds of vacations, that are often anything but relaxing, but it's worth it for us. Those moments we get as a family seeing something incredible or simply being together in places of beauty and wonder are worth every step carrying the boys and listening to the tears or endless line of questioning from AJ.

We head on our next adventure in less than a week. It's a bit of a deviation from our norm because we're flying to Las Vegas to pick up our rental car. I'm used to packing the Tahoe with everything we could possibly need, including surprises wrapped for the boys to entertain them along the way. We'll have to be a bit more creative this time around, but I'm sure we'll manage. If not, we've told our families where to start searching for us.

Updates here may be a bit scarce starting next week because I don't plan to write a novel from a smartphone to post, but I'll try to get a few pictures and highlights of our adventures shared along the way.

Friday, March 11, 2016

Playtime at the Park

Earlier this week it was unseasonably warm, nearly 70 degrees. We took full advantage of the gorgeous weather by visiting three different parks in two days. Both boys had a blast at the parks, even though Teddy got soaking wet at the one park (and it wasn't so unseasonably warm that day). He loves water, so he felt the need to splash in every puddle with his hand, and he tried to faceplant into a few to drink them for good measure.

Teddy goes everywhere AJ goes!


I love seeing how much more Teddy can enjoy a park this spring than last fall. He's able to hold onto things much better and explore more.
He holds onto swings now!
It might help, though, if we could give Teddy a healthy dose of fear. His safety awareness has improved a lot in the past year, but he seems to forget about all those lessons when he's playing at a park.
Holding on with one hand ... from a kid with poor balance.

I think we'll be visiting a lot of parks as the weather warms for good this summer. We'll just have to hang on tight until spring is really here to stay.

video

Sunday, March 6, 2016

The Smiling Faces of CDG PIGN


One of the best things that's happened to us related to Teddy's diagnosis was connecting with other families with the same PIGN genetic mutations. Since December, we've been able to connect through a private Facebook group, and there's a whopping 10 families from 4 different countries. Ten might not sound like a lot, but it really is when you're told your child is the only one in the world with this diagnosis or you wait six or more years to finally find a name for what makes your child unique.

It's been such a blessing to have others to compare notes on issues, possible treatments and successes (since we're not bound by HIPPA and want to share as much as we can to help each other). For us personally, we've learned as much or more about about this syndrome from these other families than our genetics team. Each of our children faces unique challenges, but as one of the other moms put it best, "we've all decided awesome smiles are a universal 'symptom' of this syndrome."

When Teddy was diagnosed, we were given two research papers about his syndrome. Both included a few pictures of some of the children diagnosed with the syndrome. Most of the pictures focused on differences of body structure, such as inverted nipples, to help geneticists better diagnose CGD PIGN. (The technical term is dysmorphic features.)

I want the world to see our children for who they are, not any dysmorphic features they may have. With their parent's permission, I am honored to introduce you to some of the most awesome smiles you'll ever see. 

Australia


Brianna and Zachary are siblings from Sydney Australia. Brianna is 13, and she's a happy, fun-loving teenager who loves music and is rarely without a smile on her face. She is a very determined (or stubborn!) soul who loves to try new and exciting things especially if they involve things like waterslides and funpark rides. 

Brianna looks gorgeous with her beautiful smile!

Zachary is 7 and is is very much like his sister. He is a happy, fun-loving boy who loves to help people. He always has a smile on his face and is the first one to step in and help if something needs doing. He loves his big brother, Nate, and is always trying to do things just like him. 

Zachary shares his awesome smile!

Canada


Lauren, Wyatt and Logan are siblings from just outside of Toronto, Ontario. Lauren was 11.5 years old when she passed away. She was non-verbal, non-ambulatory, and G-tube fed with high occurrence of tonic-clonic seizures, until the age of around 3. Her seizures were mostly controlled with phenobarbital and changed into absence seizures as she got older. She had GI motility issues, would throw up often and developed aspiration pneumonia many times. She passed away from complications of pneumonia. She was an extremely happy little girl, and everyone who met her was drawn to her bubbly personality. At her funeral one of the students from her class gave a eulogy stating, "She never had to say a word, she still knew how to get her point across!"

Lauren's smile made the world a brighter place.

Logan was born at 26 weeks gestation. He had a 100% diaphragmatic hernia (meaning he had no trace of a diaphragm at all), and his organs were in the wrong place and misshaped and the wrong size. Despite his brief time on earth, he holds a lasting place in the hearts of his family. 

Wyatt turns 8 this month. As a baby, he didn't have a good suck but was able to swallow formula and eat pureed foods well by mouth from age 1. GI motility issues created a volvus and ended up strangling his small intestine, and most of GI was necrotic and had to be removed. Now has an ileostomy and receives IV nutrition through central line for 14 hours overnight. He still eats by mouth but mostly to keep his stomach feeling full and to keep his gallbladder and stomach working. He developed seizures around age 4. They generally were only febrile seizures but over time have developed into seizures that happen even without fever. They generally are absence seizures but occasionally are "twitching" type seizures. He is an extremely happy boy who goes to school for full days and is integrated into regular classrooms and has aides who work with him on his therapies. He is well loved in the school and very close with his little brother. Wyatt has an amazingly sweet demeanor. He loves watching movies and going on adventures! He also really likes sporting events.

Wyatt is one handsome smiling boy!

Poland


Emily is 4.5 years old. After several years of searching for a diagnosis, Emily was diagnosed with Congenital Disorders of Glycosylations associated with the PIGN gene. 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 the Facebook group. As her mom said, "It is wonderful to cooperate with such great people." Emi loves different voices, especially the voices of children and Elmo from Sesame Street. She loves to play with bare feet, and she hates wearing socks and tights. Despite the challenges she faces, she is a joyful child.

Emily's mom loves this smile! How couldn't you?

United States

 

Arizona

Mateus Alves turns 6 this April. He lives in Goodyear, Arizona. Although he was born in the United States, both his parents are from Brazil. Mateus is a happy, happy boy. He is a ray of sunshine for his family. He only gets upset when he's in pain or when they don't listen to him. Since he is non-verbal, it's sometimes hard to understand what he is trying to communicate. But as soon as his family understands, Mateus gives them the biggest smile. He loves Elmo, going to school, doing anything with brother, playing rough with daddy and mama's snuggles. Mateus loves to be outside, listen to stories and music and messy play.

Mateus is a handsome boy with a huge grin!

California

Jacksynn is an adorable 7-year-old girl from Merced, California. She loves princesses!

Jacksynn's smile and personality shine!

Illinois

Sammie lives with her family in Arlington Heights, Illinois. She is 8 years old and is one of the happiest little girls you will ever meet. Despite being non-verbal, she is a social butterfly and is happiest when she is around people. She has two older brothers who are her best buddies and love her fiercely. Her challenges never stop her from trying new things as she is determined and stubborn. As her mom said, "To know Sammie is to love Sammie."
 
Sammie's toothless smile is beyond adorable!

Maryland

Baltimore

Holly and Alexa are sisters from Baltimore, Maryland. Alexa turns 3 this month. She is feisty and full of spunk and personality. She almost always has a smile and laugh to share! 

Alexa is smiling through her beloved chewelry!
Holly passed away when she was 2 years 4 months, but she would be 6 right now. She loved to snuggle with her mom. She always had a smile to share, also, as long as her mom was close by. 

Holly's smile could light up a room!

Elkridge

Kalani lived in Elkridge, Maryland. Kalani passed away last month when she was 16 months old. Her mom described her as a soldier.


Kalani was an adorable little girl!

Oklahoma

Sanjeet is a handsome 4-month-old boy who lives with his family in Oklahoma City. His ethnicity is Asian Indian. He has PIGN gene mutation where his parents are carrying the same genetic mutation as recessive carriers. Irrespective of how this affects each and every cell in his body, his personality outshines it. He loves his food! If anyone is late feeding him by 5 minutes, he will scream at the top of his lungs to get it immediately. He is very persistent in proving his neurologist wrong when it comes to feeding on his own. He is a fighter who loves warm hugs! He is content for the most part and is always ready to wiggle down and explore the world his own ways.


Sanjeet is a handsome baby boy!


Wisconsin

Last but not least is Teddy. For those of you who aren't familiar with his story, Teddy is 2.5 years old and lives in Oshkosh, Wisconsin with his family. He is one of the happiest children you'll meet, unless you try to make him sleep. His big brother AJ is his favorite toy in the entire world, and Teddy loves to chase after him. Although Teddy has to work harder to accomplish things than typical children, he is persistent and determined. He loves to climb absolutely everything and has no fear!


Teddy has the cutest dimples!

These are the faces of the alphabet soup that makes up their diagnosis: CDG PIGN. They are far more than their diagnosis. Their diagnosis provides a name to summarize many of the challenges they face (and the name itself we were given for Teddy captures so much: Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1). Their diagnosis is the reason why some of these children are no longer on earth. But their diagnosis is not who they are. They are Brianna, Zachary, Lauren, Logan, Wyatt, Emily, Mateus, Jacksynn, Sammie, Alexa, Holly, Kalani, Sanjeet and Teddy. And they are amazing.

Wednesday, March 2, 2016

Hinge Pin Doorstop

Yesterday when I walked into Teddy's room, the bottom hinge pin of his door was removed and in his hands. I had no idea how he managed that, but I didn't put much thought into it because I was exhausted after a poor night's sleep and in a rush to get things ready for the sitter who arrived in 15 minutes.

When I walked into his room last night to get things ready for bedtime, I stepped on a small piece of rubber. It looked like it came off a doorstop, which is a really fun toy in Teddy's mind. Then it dawned on me. Teddy managed to pull out the hinge pin of the door by pulling up and leveraging the doorstop.

Sure enough, a search of his room yielded this:

I just shook my head and laughed. A 2-year-old with poor fine motor skills and the attention span of a gnat (known as "lack of attention" or "inability to focus" in more clinical terms) managed to pull out the hinge pin of a door using a doorstop as leverage. Most of the time when I try to remove hinge pins, it takes a screwdriver and quite a bit of muttering under my breath because they're usually stuck or at least pretty tight. Considering the odds against him, I'm amazed he accomplished this.

I know who's in charge of removing all future hinge pins and inserting any new doorstops.