Diagnosis Day

It's hard to believe it's been 10 years since diagnosis day for Teddy. 

He thought he was the doctor. That hasn't changed.

That's the day our lives changed forever in an instant, yet nothing changed in that moment. A diagnosis answered some questions yet opened Pandora's Box because only 3 research papers existed in 2015 on Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, as it was called back then. Literally, Google returned less than 10 hits. How can that happen?!?!

Those 3 research papers painted a bleak picture, with a life expectancy of 3 years written in black and white. That's the reason we kept the name to ourselves, aside from sharing it with my aunt who was entertaining AJ in the waiting room for the entire 3-hour appointment, for several weeks. We didn't want our parents to search it and find that devastating news until we could confirm with our genetics team that there was no reason to believe our little boy would die in the next 6 months (as he was 2.5 at the time of his diagnosis. 

We were told Teddy was believed to be the 15th person ... in the entire world of 7, 470,491,872 or so people. Mind-blowing to say the least, especially since there was only a 25 percent chance of us getting a diagnosis with the exome sequencing test. We had low expectations since every other test came back normal or negative, nothing explaining why Teddy was lagging further and further behind in milestones, lacked muscle tone and control and put a nasty spin on the phrase, "shake, rattle and roll" with his seizures.

That day cemented us as a family of 4 with no further children added to the mix. I distinctly recall them asking if we planned to have more children, and my honest answer of, "Not after today." 

That day, and the following month, were so hard with so many questions and so many unknowns. The first glimmer of hope came in connecting with another mom, even though she had already lost a child to this disorder and had another daughter affected. It was such a relief to have another human, another family who was walking a similar path. It truly was the best Christmas gift we could have received that year.

From there, we found a tiny Facebook group with a family from Australia, a family from Poland and two other families from the United States. We had so much in common, despite the cultural differences and the wide variation of how the disorder impacted our children.

Now, 10 years later our tiny Facebook group feels so much larger, with more than 100 known cases of what is now called PIGN-CDG (Congenital Disorders of Glycosylation). We families have banded together to try to find treatments to benefit not only our children but those to come. (You can learn more and donate here: https://secure.givelively.org/donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim). We've met several families in person, connected via technology and have developed incredible friendships. We mourn the loss of each beautiful soul to this disorder, celebrate every milestone and achievement and support each other through it all. 

While this isn't the path we'd have chosen for our family, we're so incredibly blessed with both our children and grateful for the support along this journey. After 10 years, it's so much easier to see all the connections and the incredible things that have come from this diagnosis and shaping our family into who we are. We're forever changed by being a part of this community and hope we can ease this diagnosis for those following behind us. 

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. 

Diagnosis Day - 7 Years Later

 It's been 7 years (and 2 days) since we got the diagnosis that would change our lives: Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (which has since been refined to PIGN-CDG). Gosh, Teddy was little!

Diagnosis Day 2015

That diagnosis came after nearly 2 years of searching for answers. Every test came back normal or negative, yet the seizures continued and the developmental milestones went by the wayside.

That diagnosis changed nothing in terms of treatment for Teddy because there was no treatment (beyond standard therapies like OT, PT and speech and medications to control the seizures). Seven years later, there is still no treatment for Teddy's disorder.

What changed with diagnosis day, though, was that we slowly but surely found our small community of other PIGN-CDG families throughout the world. We celebrate the successes (however small to the outside world) of our children, and we mourn with each other every time we lose one of our children to the disorder. I've shed so many tears through the past 7 years for children I've never met in person, yet they hold a piece of my heart because they are like Teddy in so many ways.

And so, as we head into the giving season with Giving Tuesday 2 weeks away, please consider donating to the incredible research opportunity we have to hopefully find a treatment for PIGN-CDG: https://secure.givelively.org//donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim While there's no guarantee the science will work in our favor, this is the first time in 7 years that we've had any glimmer of hope for treatment.

And a huge thanks to all who've donated. If you're not in a spot to donate, please consider sharing this post with others who might.

MCAHSS1 vs. CDG-PIGN

Teddy's initial diagnosis was Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1. That mouthful was a lot to remember, but it was ingrained in my mind from the first genetics appointment. Since then, we've heard a couple times (at the National Institutes of Health and at the Congenital Disorders of Glycosylation conference last year) that they are changing the naming structure to refer to the affected gene name. Since then we've been calling his diagnosis CDG-PIGN (although I think we're supposed to call it PIGN-CDG).

This came to mind again when new families are joining our Facebook group because some of them are still getting the MCAHSS1 diagnosis, the acronym for the full name. I think the switch with naming happened a few years ago, but it's clearly not universal.

I simply wanted to revisit this from an education standpoint and to put it out there for those searching for either diagnosis to hopefully find this nugget helpful.

World CDG Awareness Day 2019

Today is World CDG Awareness Day, so we're all decked out in green shirts to raise awareness and show our love and support for Teddy. (Green is the color for CDGs.)

When Teddy was first diagnosed, we were told he was the 15th child in the world with his particular diagnosis of Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1). With our visit to the National Institutes of Health last year, his diagnosis was simplified to Congenital Disorders of Glycosylation of the PIGN gene or CDG-PIGN because he didn't fit all the characteristics of MCAHSS1.

As you saw earlier this week with the The Smiling Faces of CDG-PIGN are Growing!, there's far more than 15 children with CDG-PIGN. My best estimate within our group is that there are at least 7 more children who weren't included within that post for various reasons. We know there's another 7 and probably a couple more who are documented in research papers who aren't connected to our group.

That still leaves us with less than 50 cases collectively known and documented in the world. So why is CDG-PIGN so rare? There's a few rather simple reasons:

1. As our geneticist explained to us, there's way less than a 1 percent chance that any person carries this type of genetic mutation in their PIGN gene that can manifest in this disorder. Then, that person needs to find another person with that way less than a 1 percent chance of a genetic mutation. Then, there's a 1:4 chance of a child of those two people having CDG-PIGN because these are recessive mutations. That means that 3 out of 4 children from those two people statistically would be unaffected. One out of 4 won't even be a carrier of the recessive genetic mutation. 
2. CDG-PIGN, at least the MCAHSS1 variety, wasn't even discovered until 2011. That's mind blowing to me. There was a definite feeling of amazement, and not in a good way, when a Google search resulted in literally 3 different responses back when we got Teddy's original diagnosis. (I'm so happy that this blog now shows as one of the top results when you search CDG and PIGN together. That's one of the reasons we've been able to connect more families who are recently diagnosed.) There are probably plenty of people who have or had CDG-PIGN who were incorrectly diagnosed. We know that because several members of our group were misdiagnosed for years before getting the correct diagnosis. At some point, most people just stop looking for answers and don't continue to seek a diagnosis either because all options known at the time were exhausted or they were simply exhausted with the process. 
3. The only way, to my knowledge, to diagnose CDG-PIGN is through genetic testing. For us, that was an extremely expensive test that took months to complete called exome sequencing. Basically it's the equivalent of scooping up all the DNA you can and then looking through the exome, the section of DNA that is most understood, for each gene. When something comes back abnormal, it's checked against databases for known disorders as well as against the parents' DNA. It's so expensive that it's often not covered by insurance companies and certainly not by Medicaid. It's also a test that wouldn't be available in a country without the same medical testing that's available in first-world countries.

It took us 2 years to find Teddy's diagnosis after lots of doctor's appointments and tests that all came back normal/negative while Teddy was clearly anything but normal. We're grateful to have a diagnosis, even though the diagnosis really only raised more questions. It allowed us to connect with others and not feel so alone. Trust me, when you're told your child is one of 15 in the entire world, that's a pretty lonely feeling especially when most of those 15 were deceased according to the medical literature. 

It's also allowed us, along with others in our group of CDG-PIGN families, to raise awareness of the disorder and to give hope to others, especially those just getting the rather grim diagnosis. Medical research papers are rather slow to catch up to our children's progress. Our children are so much more than what's described in medical literature. So many of them defy the odds and, quite frankly, are writing their own futures. I'm grateful to be a part of Teddy's amazing story.

It Truly is the World Wide Web

If you read the About Me section of this blog, you'll see that I wrote:

We decided one thing we could do was start a blog to create a bit more awareness and give other families with this disorder the opportunity to connect. 

We started this blog within a few months of getting Teddy's diagnosis. There was so little information available, and so much of it was so dismal and didn't match our experience with Teddy. We wanted to put more information, including more positive (yet realistic) information out there, for others searching for this diagnosis. We also wanted to provide a way for other families to connect, particularly before we found our amazing Facebook group of families.

In those early days, there were perhaps 5 other families in our Facebook group. It was a big deal when every six months or so another family got added. In the past two weeks, though, we've added 3 more families with CDG-PIGN to our Facebook group. That absolutely blows my mind that we're growing so much and that families are getting connected to this amazing resource sometimes even the same day they get the earth-shattering diagnosis.

The thing that's made my day, twice this year, is that I've had two different mothers reach out to me after reading this blog. One doesn't use social media, so she wouldn't find our Facebook group. The other came across the blog while searching the Internet and reached out, so I could connect her to the Facebook group. That particular mom is from Germany. This blog is reaching out around the world to connect others, to give them hope and to bring them into our group of CDG-PIGN families where they have all of us to use as a resource.

When that mom told me that she spent much of her day reading my blog, it just made me smile. Everything on here isn't all sunshine and roses because life isn't always easy (for anyone, regardless of diagnosis or not). But it's realistic, and there's so much positive in our life with Teddy. I'm grateful that even these two families have been impacted by this blog.

And with World CDG Awareness Day coming up May 16, I'm hoping to do another round-up that will include as many of our CDG-PIGN kiddos as possible. Those seem to be the posts that spread like wildfire and reach the farthest. That, and our kids are adorable and amazing, so the world needs to see them. 

Diagnosis Day

It's been three years since everything and nothing changed during a 3-hour generic appointment.

Receiving an incredibly rare diagnosis was a complete shock. Honestly, getting a diagnosis in and of itself was a surprise. We had spent two years wondering, worrying and getting normal test results for a child who was obviously not normal. The odds of getting a diagnosis with this test were 25 present, and this was our last option for answers.

Yes, that's right. If this test was negative, our next step was to wait another 2 years or so for more genetic discoveries. Then they'd re-run the same incredibly expensive and time consuming (think 3 months) test hoping it would then trigger an answer.

Even though it wasn't the answer we were expecting, I remain grateful we got answers. It's allowed us to find out tribe, participate in research and move forward with the continual process of acceptance. It's a lifelong journey, but I'll take that over the alternative considering how blessed medical research was and still is regarding CDG-PIGN.

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.

Acceptance Comes with Time

While the adage that time heals all wounds may not be perfectly true, time helps tremendously in terms of acceptance of your child's diagnosis and needs.

I remember the first time that Teddy needed a piece of adapted equipment: his orthotic braces to help stabilize his ankles. I shed a few tears after the therapist left the house for the fitting. There was something about a physical object, a piece of adaptive equipment, that I couldn't deny my son needed. Teddy needing adaptive equipment, first in the form of ankle braces and then in the form of a gait trainer, was a hard pill to swallow despite the fact that I knew he benefited greatly from them.

Now, a couple years later, Teddy has been approved for three pieces of adaptive equipment in the past few months (five if you count his most recent braces and SPIOs (think Spanx for toddlers to help stabilize his core)). I couldn't be more excited about Teddy getting his own adapted bike, and neither could he. Today I got the response from his case worker that he would be eligible for an adapted booster seat to help at meal times since a traditional booster seat really isn't functional for him.
Instead of feeling depressed that he needs yet another support, I'm excited about the possibilities of meals going smoother with the right equipment. And, quite honestly, I'm amazed at how easy the process was with his county funding. I might have told his case worker that she's like Santa Claus. (Hey, I give her my wish list, and she makes it happen.)

This is the booster seat we're hoping to order for Teddy.

This isn't to say that there aren't new challenges that occur that require additional time to process or that things like birthdays and holidays are tough at times because of milestones not reached. (Shopping for presents really emphasizes that fact.) But these last pieces of adapted equipment I've been able to view as assets that benefit Teddy with no strings attached, which is so nice.

And that third piece I mentioned? That's another post for another day. But it's exciting.

Diagnosis Day

Two years ago today Teddy was diagnosed with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1. That 3-hour genetics appointment changed our lives. We left with a completely unexpected diagnosis, one that had only been discovered 4 years earlier. We were told Teddy was the 15th person in the world as far as they could tell from research. We were given about 15 pages of medical research, which was about all they knew about his diagnosis.

We told my aunt his diagnosis because she was at the appointment occupying AJ for that incredibly long appointment (which really isn't all that long when you're trying to remember high school biology and process that your child has an incredibly rare diagnosis). But as we left, we determined we weren't telling anyone, including our parents, his diagnosis until the geneticist clarified the life expectancy not to exceed three years that we saw in the research papers. Somehow, they missed addressing piece despite Dave asking about long-term prognosis.

Teddy on diagnosis day, completely unfazed at rocking out world.

We headed up north after that appointment, and I took a long walk with Teddy on my back, sobbing the entire time. The memories, fears, guilt, lost dreams and all that jumble of emotions comes back to me as I type this.

It took at least a month to start wrapping our arms around the diagnosis. We often said we had a name, but it didn't change much of anything. That wasn't completely true. Having this diagnosis dashed our dreams ... until we learned to accept our new normal.

Now, two years later, his diagnosis has changed our lives for the better. Knowing is better than not knowing. We've been able to educate ourselves and others. Most importantly, we've connected with other families with the same diagnosis. We've laughed at our children. We've cried at each other's losses. We've shared information, ideas and stories. We've given each other hope. We've simply existed for each other-knowing the others makes it infinitely easier to have a child who is far rarer than one in a million.

For that, above all else, I am grateful we received our diagnosis.

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. 

Diagnosis Day

Teddy was diagnosed with the genetic disorder Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 as a result of exome sequencing. There was a 25% chance of finding the cause of his uniqueness, so we were surprised to get an actual diagnosis.

As far as the diagnosis goes, well, we were astounded to learn this condition was discovered in 2011, and Teddy is the 15th known case in the entire world.

That means when we got married, one of our future children would have a disorder that wouldn't be discovered yet for another 5 years. It's crazy. It's hard to wrap our arms around.

We hadn't really speculated as to what we might learn because we had already eliminated most of Dave's (paranoid) guesses from his research, which didn't include this diagnosis. There's 3 things on Google: two research papers and a NIHS article, all of which we got from our genetics department at Children's Hospital in Milwaukee. In our age of Google, 3 true related hits is insane.

So, the genetics counselor asked if we planned to have more kids. My answer was "Not after today." Dave's thought was "F--- no!" We love Teddy. We love AJ. Way back before Teddy was born with a will stronger than ours, we wanted 3 kiddos (3 healthy boys was my wish). But there's a 25% chance of another Teddy syndrome (and a 50% chance of carrier status). Not a risk we'll take. We had been waiting for these results to see if we would even consider more kids, and this slammed the door shut. That's hard.

Aside from me actually enjoying pregnancy, it ends some dreams. The worst of it is AJ won't have a typical sibling. We feel we're robbing him of that experience. It feels like the best case scenario is he's responsible for taking care of all of us when we get old. And that's so unfair. I know he'll gain immeasurable things like empathy, compassion and acceptance, but it's still not fair to him. This is one of the hardest things to accept.