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. 

PIGN-CDG Research - We're Fundraising!

When we got Teddy's diagnosis back in 2015, it was an extremely bleak prognosis with no treatment plan because none existed. Seriously, we were referred for a handful of tests to make sure he didn't have issues with his heart or his kidneys because the research papers indicated those systems could be affected. But that was the extent of what we gained from his diagnosis from a medical standpoint. 

More than a decade after PIGN-CDG was first diagnosed, no treatment exists. The reality is that so few people are diagnosed with PIGN-CDG (less than 100 known cases) that there's minimal interest in researching PIGN-CDG, much less researching and developing treatments. However, we have a unique opportunity to have a team research treatments for the disorder.

We first connected with Ethan Perlstein of Perlara through the World CDG Conference. Another PIGN family spoke to him, gauged his interest and availability to work with our disorder and coordinated a call for other PIGN families. Perlara has worked with other families and organizations to development treatment models, probably with the most well-known and promising one that I'm aware of being Maggie's Pearl for a different type of CDG. 

In essence, there's not a single genetic mutation that results in PIGN-CDG. A handful of known affected individuals share the same mutation, but even within the same family the mutations can manifest differently. In Teddy's case, part of his gene from Dave was missing a piece whereas part of his gene from me had broken apart and reattached in the wrong location (a splice site). 

Scientifically speaking, the PIGN gene is a common gene that is found in many other organisms, including yeast cells. This allows scientists to replication the mutations in yeast cells and then perform testing on the yeast cells. They can test existing drugs on yeast cells to see if they find promising results and can repurpose an existing medication to actually treat PIGN-CDG rather than just treating the symptoms that result from the disorder. (Tmost common and significant treatment is often for seizures, although many have a multitude of medications to manage a variety of symptoms). 

This research is truly about doing the science and seeing where it takes us. There is no cure for CDG and likely will never be. There is not even a guarantee at finding a treatment. However, this is the single best hope we've seen in the decade since PIGN-CDG was discovered to find a treatment. 

We don't know if this will result in a treatment that benefits Teddy. There's a possibility, although the skeptical side of me acknowledges it's more likely that a treatment will help other PIGN individuals more than Teddy who are more severely affected. Yet, it's an opportunity to help others, to give hope and to perhaps make this road easier for others in the future ... and best case scenario easier for Teddy. 

So we're going to be diving into fundraising efforts in the next couple months. The researchers at Perlara have limited capacity for projects, and we just squeaked in with the PIGN project. The trick now is to raise the funds necessary to do the first two phases (develop the yeast cells and begin drug repurposing testing) in short order. We do need to act quickly, so that we don't lose essentially our place in line.

I'll share more in the upcoming weeks on fundraising opportunities, but I'm starting with simply sharing our fundraising page: CDG CARE (givelively.org) Your donation is tax deductible. Please consider a donation or share this post with others to raise awareness.

If fundraising is your jam and you're interested in helping in this adventure, please let me know. I'd be happy to chat with you, even if it's to learn from you. 

Perhaps we should do accordion concerts for donations. If you don't pay to join the concert, I'm sure you'd donate to end the concert!

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.

The Smiling Faces of CDG-PIGN Are Growing!

One of the most popular posts on my blog is when I introduced our small community of children with CDG-PIGN from across the world. I shared an update again last year with some new faces in the mix. Our children continue to grow. They are growing older, which is truly a blessing given the bleak prognosis in the initial medical research on CDG-PIGN. Our children are also growing in number, with more families added every month it seems to our group.

It is my honor and pleasure to share with you snapshots of our amazing children and just a bit about each of these incredible children. Each child is wonderfully unique, yet there are so many similarities among our children. You'll see that in their joy, their smiles and their determination.

So, since our group is so much larger than 3 years ago, settle in to learn about our amazing children. Grab a cup of coffee, a mug of tea or a nice cold beverage, depending on which side of the world you're on, and enjoy!

Australia

Andrew and Scott are brothers from Australia. Scott passed away in 1996 when he was 15 from pneumonia, and Andrew was 5 years old when he died from pneumonia in 1993. Their parents had banked their DNA, and in 2016 they received the diagnosis of CDG-PIGN. Their family loved and cherished their boys. After all these years, the diagnosis gave their family clear answers. 

Scott may have been non-verbal, but he communicated with his eyes. 

Andrew lived a good life, thanks to his family's love, care and advocacy.

Brianna and Zach are sister and brother from Australia, who also have another brother who is unaffected. These children are the smiling, happy kids you met in the previous posts. Brianna is now 16, and Zach just turned 11.

Bri brings joy to those she meets.

Zach loves horse therapy and has made so much progress with it.

Belgium

Jarne lives in Belgium and is 14 years old. He has a sister, Julie, who is 12 years old and a brother, Joppe, who is almost 3 years old. Jarne always has fun, and he's a fan of food. He enjoys watching the show Fireman Sam. Jarne has lots of toys. He likes to play with LEGOs, and he enjoys making towers. Jarne enjoys doing puzzles, and he can do a 36-piece puzzle. He goes to a youth program every 2 weeks. Jarne also really enjoys swimming. 

Jarne loves food and helping with meals. 

Canada

Isabel lives with her parents in Prince Edward Island. She has two unaffected older brothers, Erich and Philip, whom she adores, and the feeling is mutual. Isabel received her CDG-PIGN (MCAHSS1) diagnosis in January 2019, and it was a long wait for her family. Isabel turned 28 last November. She has been through many medical crises throughout her life, especially with prolonged bouts of life-threatening seizure activity, metabolic episodes, surgeries and respiratory pneumonia. 

In the words of her mom, "Isabel doesn't ever let ill health keep her down. She always wakes up with a smile, anticipating any adventures the day may bring. Isabel loves to have books read to her, to play games and do puzzles, to make art and to make music. She has a zeal for shopping, and her preferred purchases are Beanies, books, games and balloons. Isabel also takes her help with the daily routines around the house very seriously. If she can't do it, she makes sure her parents know what should happen next, and also that it happens in good time. She is a good supervisor!

Each of Isabel's self-appointed tasks is accomplished with great enthusiasm, and to the very best of her abilities. Her family and friends are so proud of her. Her outlook is fun and humorous, and Isabel's approach to life is contagious. Her joy makes others happy, too. She shows everyone who knows her how to appreciate all those things that make life full and rich. Isabel is a blessing."

Isabel, with her sweet smile, is the oldest person with CDG-PIGN in our group.

France

Chloe is 4 months old, and she was recently diagnosed. She has an older sister, Alice, who is 2 and a half. When she was born, Chloe was transferred to the neonatal department because they noticed several issues: hypotonia, tremors, her left foot turning in and her eyes looking up. She was in the neonatal ward for 15 days with a lot of testing for metabolic diseases, blood tests for genetic research, encephalogram, ultrasounds of the stomach and liver and an MRI of her brain. After 15 days, all the tests were negative except for the genetic results. Those results took several months. 

Chloe came home after 15 days in the hospital, and she cried day and night for a month. Then the nights got better, and she cries less. She needs constant reassurance, being carried with a pacifier held in her mouth because she cannot hold it herself. Chloe had her first seizures when she was 3 months old, right around the same time her parents learned she has CDG-PIGN. 

It's only been a month since Chloe's diagnosis, and her parents are still in shock from the news. Her mom said, "We have our little Alice, who makes us smile (except when she is not in the mood.) The main thing is to hold it together with your spouse, and we have a lot of support from family and friends. That is very important. The future is a big question mark." 

Adorable Chloe lives with her parents and big sister in France. 

Germany

Anna is 19 months old and lives with her parents in Munich. Her mom describes her as a very happy baby. She likes to play, destroy newspapers and is an "inquisitive little person." She is still working hard to learn how to sit, crawl and walk. She really loves her daddy and giggles whenever she sees him. Anna still prefers nursing more than normal food. Her mom said, "She loves to party from 3:30 a.m. to 6 a.m." She has seizures but hasn't had any after starting Keppra combined with vitamin B6.

Anna's smile is absolutely captivating!

Poland

Emily, or Emi, is one of the children you met in the previous posts. Emi turns 8 this July. She was one of the first in our group to be diagnosed with CDG-PIGN, and her mom is a tremendous advocate and resource. She's the one who started our Facebook group that connects us all. Emi loves children and Elmo. She hates wearing socks and loves bare feet. Despite her challenges, she is a joyful child. Emi is now a big sister to her brother, who is unaffected by CDG-PIGN.

Emi loves her feet to be free!

Kaja was born in Poland on a beautiful day of December 12, 2012. In the opinion of her doctors, she was born as a healthy child. However, her parents noticed differences as she grew older. In 2017, after years of searching for answers, her family received a PIGN diagnosis. Kaja has an instinctive reflex on the auditory stimulus, but at the moment the attacks are stabilized. Her mom said, "Kaja is our sun. We are very connected." She loves playing with other children, playing in water and playing with modeling clay. Kaja does not like having her beautiful hair combed or getting dressed. Aside from that, Kaja is a very happy girl who is always smiling. She loves music. Although she doesn't speak, she understands many commands.

Sweet Kaja loves to cuddle and snuggle. 

Kinga is 11 years old and is also from Poland. Kinga has a PIGN genetic mutation. She is a very cheerful girl. Kinga cannot talk, but she can walk with assistance. Kinga loves to take baths, play with other children and jump on the trampoline. Her biggest challenge is drug-resistant epilepsy.

Kinga has a sweet smile to go with her sweet personality.

Zuzanna is another sweet girl from Poland. She was recently diagnosed and is 17 months old. She began with epileptic seizures when she was 2 months old. She started on a ketogenic diet, which she still is on today to control seizures. She likes to play, tickle, cuddle and smile. She can roll onto her stomach and back. She is getting stronger at sitting, especially with her back supported. Zuzanna has a lot of therapy and tries very hard at all her exercises. Her mom said, "Zuzanna is a miracle. We are happy that we have such a wonderful daughter. She's our whole life."

Zuzanna is a special girl who lights up life for her family.

Sidenote: I recognize that getting this diagnosis is life changing, but I was so happy when Zuzanna and another little girl from Poland joined our group this spring. I know that Emi's mom will be a tremendous resource for them, and I'm so happy they can all learn from each other in their first language. 

Qatar

Olivia lives in Qatar with her family, but they are originally from Lebanon. Oliva will turn 2 in October, and she was diagnosed when she was 6 months old. Olivia loves having other kids talk and play with her. She will soon be a big sister when her little brother arrives.

Olivia will soon be loving on her baby brother.

United States

California

Jacksynn is one of the relatively few children included in the original blog post. In the past few years, she's grown older and even more adorable, if possible. Jacksynn is now 10 years old. She loves her dog, Beau. She also loves rolling around playing, giving kisses, listening to music and dancing. Jacksynn also loves the thrill of rollercoasters! Jacksynn lives in Merced with her older brother Anthony, who's 14, and her sister Taylor, who's 16. Her mom describes Jacksynn as "healthy, happy and living her best life."

One of Jacksynn's favorite things is rollercoasters!

Colorado

Brenden is 6 years old and lives in Pueblo. He loves wrestling, wheels of any kind and Lazer lights crack him up. He loves his family and his puppies. "Brenden is always so happy," says his mom. "His smile will melt your heart."

Brenden loves lights and action.

Florida

Nicholas was born in June 2016, so he's nearly 3 years old. He was diagnosed by a geneticist with PIGN in 2017 after having his first seizures. Nicholas is currently in physical and occupational therapy and getting stronger every day. His parents are working hard with him to learn to sit unsupported, stand and eventually take his first steps. "Nicholas is extremely brave, feisty, loves his family, very smart, loves being outdoors and learning about nature," said his mom. "He brings joy and so much love to our lives. Our son is our pride and joy!"

Nicholas has such a sweet smile!

Vivien is another child from Florida who is now 10 years old. She spreads joy wherever she goes. She lives with her mom and dad just outside Orlando, and she has an older sister who's already an adult. In addition to having a variant on her PIGN gene, 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 her goofiness with others. She is extremely affectionate and loves being held (and carried). 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.

Vivien loves to be outside!

The last of our children from Florida are Ryan and Zach, who are brothers. Zach is now 17 and about to graduate high school. Ryan is 14, and both were diagnosed with a variation of CDG-PIGN in December 2016. These brothers had previously underwent numerous tests, all with 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 understandable than Ryan, but make no mistake, Ryan gets his point across clearly.

Ryan and Zach are huge fans of the Incredibles.

"We try to give the boys as many experiences as possible and love to travel with them," says their mom. Zach went on a mission trip this past year out of the country, and both boys are planning to hike part of the Appalachian Trail on a camping trip this summer.

"Their joy is contagious," says their mom. "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."

Illinois

Aniyah is the happiest girl with a beautiful smile. This 5-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.

Aniyah is a sweet girl with a sweet smile. 

Samantha is another familiar face from previous years. Sammie lives with her family in Arlington Heights, a suburb northwest of Chicago. She is 12 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 make others laugh. She adores her brothers (Matthew, 15, and Benjamin, 14), 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 7 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. (I can vouch for this because we've been fortunate enough to meet Sammie twice.)

Sammie adores her brothers, and she loves her adapted dance class. 

Louisiana

Brooklyn lives with her parents in Abita Springs. She was born at 30 weeks and had quite a rough start to life. Even as a baby, she was described as a fighter, says her mom. When Brooklyn was 7, she was diagnosed with a mutation in her PIGN gene. She is now 12 and a happy smiling girl who enjoys living and experiencing life. Brooklyn continues to surprise her parents every day.

Brooklyn has a smile that brightens peoples' days.

Maryland

Kalani lived in Elkridge, Maryland. Kalani passed away in 2016 when she was 16 months old. Her mom described her as a soldier. 

Kalani was a beautiful little girl. 

Holly and Alexa are sisters from near Baltimore, Maryland. Alexa just turned 6 and is doing pretty well. She is feisty and full of spunk and personality.  Alexa had a VNS implant last year, which is a pacemaker-like device that is inserted into the chest wall to help control seizures. For Alexa, the VNS has helped her tremendously. While she still has seizures, they've decreased substantially. Her goal is to sit unassisted for a minute or two over the next year. She loves being outside (swinging, playing and swimming) for any reason and loves to cause trouble. 

Alexa works hard to keep up with her big sister and younger brother. 

Holly passed away when she was 2 years 4 months, but she would be 9 this year. She loved to snuggle with her mom. She always had a smile to share, as long as her mom was nearby. 

Holly was a sweet soul who faced many medical challenges. 

Massachusetts

Nolan lives in Watertown with his parents and two younger brothers. He is non-verbal, non-ambulatory, has a seizure disorder and visual impairment, utilizes a g-j tube for nourishment and a bi-pap/oxygen to support his breathing at night.

Nolan turned 10 years old this April. He is such a happy kid. He loves music, lights and "off-roading" in his wheelchair. (The bumpier the better!) He adores his little brothers, who are 9 and 6. He laughs at all the havoc they wreck everywhere they go. His favorite movie is The Greatest Showman. With all the music and flashy colors, he loses his mind when he watches it. He loves school, and the teachers and students all love him. He is lovingly referred to as "the mayor" at school because he loves cruising the halls saying hello to everyone.

Meet Nolan, otherwise known as the Mayor.

New York

These two boys, ages 5 and 7, are the joy of their parents' lives. Their mom, Jillian, shares their journey on her blog (www.queenofsilverlinings.wordpress.com) and shared this:

"Rego and Lennon continue to trek along and progress beyond their parents' dreams. In the past year, the boys have become potty trained. They have acquired new skills at school and home and made new friends. This year they will be playing baseball on a Challenger league.

Rego is close to finishing up first grade in our public school. He is doing well using his iPad and Proloquo2go. Communication is one of our biggest delays, so this is wonderful! He is currently learning a few sight words, has a mastery of colors and is growing a group of friends. He is still sweet and sensitive and a friend to all. Sports are still his favorite, whether it's watching it live or on TV, playing a video game or with his brother and dad in our backyard. 

You'd be hard pressed to find a bigger sports fan than Rego!

Lennon is growing in leaps and bounds, and soon he will be handing down clothes to his older brother. He is soon graduating from the best preschool in the world and in the fall will join Rego in our public school. Lennon is practicing using his Proloquo2go app as well, but his verbal skills improve daily. He is passionate about every aspect of life, his family and friends, food and whatever else comes his way. He loves to watch sports and play along. He is strong willed and wild but so sweet and kind.

I cannot wait to see what the future holds for Rego and Lennon!!"

Lennon is always ready to hug someone who could use a lift. 

Oklahoma

Maddison lives in Tiawah, is 6 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 chewlry are designed for that.) She has really struggled with seizures and urinary issues but had a VNS and bladder surgery last year to hopefully turn that around. Maddie is now strictly tube fed. She loves people and makes everyone around her smile as well. Maddison was adopted when she was 3, but she was in and out of her family's home before her adoption. Her seizures have progressed with age. Maddie is non-verbal and non-ambulatory, but she is learning how to use her wheelchair. She is a blessing to everyone she meets. 

Such joy in Maddie's smile!

Sanjeet was 4 months old when we shared a little about him in our original Smiling Faces of PIGN post. Sanjeet was diagnosed when he was 3 months old. He passed away when he was 7 months old, but his life continues to live on with his family. Sanjeet lived in Oklahoma City with his family, who is Asian Indian. His personality outshined his PIGN mutation. He loved food! If anyone was late feeding him by 5 minutes, he would scream to let the world know. He was very persistent in proving his neurologist wrong when it came to feeding on his own. He was a fighter who loved warm hugs. 

Sanjeet is dearly missed and fondly remembered by his family and friends. 

Pennsylvania

Julia is going to be 3 in July. This little girl is a ball of sunshine and joy. She may be non-verbal, but she sure says a lot with her energy. Her laughter is loud and on point with jokes. Julia has taught her parents that she has many thoughts and opinions. She is able to make choices and has a strong personality. Currently, she is still working hard on sitting. Julia has many services and continues to make improvements. Her progress might be slow, but it is steady. "We are truly grateful for everything Julia learns to do, whether it is pushing a button or turning a page," says her mom.

Julie fights seizures daily. Her seizures are greatly decreased on the ketogenic diet. Julia is able to eat by mouth and is on a pureed diet. Her liquids are thickened due to aspiration in the past. Her parents are working with their local hospital on getting an augmentation device for communication. 

"We will continue to see what Julia has to teach us," says her mom. "She has already shown us that she is tenacious and fierce. We love our Julia for everything that makes her Julia. We will continue to be grateful to be her parents."

Julia's name is understandably Joyful Julia.

Texas

Demi lives in Cleburne with her family. She turns 2 on World CDG Awareness Day. Demi was born with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1) because both her parents were carriers of the recessive genetic mutations. Demi started walked around 20 months. She says "Mama" and "Dada." Demi does physical, speech and occupational therapy once a week. She is a happy and pretty healthy little girl who continues to make progress each day.

Demi continues to develop her skills with that sweet smile. 

Wisconsin

Last but not least is Teddy. Teddy turns 6 this July. He's managed to avoid seizures for the past year, which is such a blessing. Teddy loves being in kindergarten, although he sometimes is tired by the end of the school day. He has made great progress this school year with his attention, when it's an activity that interests him, as well as his ability to follow simple directions. He's learned to steer his adapted tricycle much better, as is evidenced by him intentionally steering for the ditches because they're more fun than the road. Teddy lives for adventure, whether running with myTEAM Triumph or riding any tractor, golf cart, lawn mower or anything else that drives that he can finagle his way onto. We continue to use his talker, but he is most effective communicating with gestures. He's learned to walk, run and jump, although he was a bull in a china shop for Halloween last year for a reason. His favorite things include his older brother, climbing, shoes, buckles, laces, vehicles and being outside.

A rare picture of Teddy sitting still ... until he climbed back down.

World CDG Awareness Day

May 16 is World CDG Awareness Day.

So you ask, what in the world is CDG? CDG is the abbreviation for Congenital Disorders of Glycosylation. See why it's referred to as CDG? The oversimplified explanation is that this is a group of disorders that people are born with that affects how cells function on a biological level. This group of rare disorders includes Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1), which is Teddy's diagnosis.

Given the rarity of CDG, including Teddy's diagnosis, we want to do what we can to raise awareness. Awareness is important to us on a personal level because we want other families with this same or similar diagnosis to know they are not alone, that the prognosis may not be as bleak as portrayed in the limited medical research and share the amazing support group of families with the diagnosis.

Also, awareness is the first step in generating interest. Interest is the first step to inspire someone to want to do research. Research is critical when you have a diagnosis like MCAHSS1 with less than 50 known cases in the entire world. There's not much there to research and not many reasons to invest money into that research.

But I have one really cute and important one:

So, we'll be wearing green today for World CDG Awareness Day. And maybe, just maybe, next year I'll be on the ball enough to get shirts made for our family.

My Little Celebrities

I know I shared our experience with I Run 4 recently, but I have an update. AJ's running buddy Bridget contacts race organizers prior to events to see if she can score a second medal for AJ. When she contacted the organizer for the Flintstone Challenge, the request came back to do a feature about I Run 4 and our family specifically.

The Flintstone Challenge is a 5k run/walk sponsored by Michigan State University- Flint campus medical students that benefits the school system in Flint, Michigan. We are always more than happy to share our story because we feel it's important to create awareness for Teddy's rare disease.

We were asked a series of thoughtful questions, although it's a bit tricky to interview a 4-year-old. AJ's answers depended on his mood, so we did our best with that part.

You can check out the full interview online: http://flintstonechallenge.org/i-run-4-siblings

They also shared a copy of the event newsletter with us with a really nicely done article.

It's getting hard to live with these celebrities.

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.

Rare Disease Day

Today is Rare Disease Day. The last day in February is dedicated internationally to raising awareness of all rare diseases, focusing on families, caregivers and treatment teams. It's happened every year since 2008, but this was the first year we recognized it simply because it was the first year it impacted us.

I figure Rare Disease Day is a good time to share a bit more about Teddy's genetic disorder: Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1. I hadn't done a post yet attempting to explain his diagnosis for two reasons:

1. An Internet search will give you basically the same information I can share.
2. It's really complicated. It's honestly to the point that I feel like I need a doctorate degree in genetics to understand, much less help others understand. 

But here's the gist of it, as far as we can piece together.

The disorder was discovered in 2011, following 7 confirmed cases from 5 inter-related families in the Middle East. That cluster of children all grouped together provided enough information for the medical field to understand that mutations on the PIGN gene cause this condition. Including those children, there were a total of 14 cases listed in research papers when Teddy was diagnosed in November 2015, according to our genetics team. Because of the rarity of the disorder, our joke was that Teddy wasn't one in a million. He's more like one in a half billion.

Since that time, we've been beyond blessed to connect through Facebook with 8 families throughout the world who have children with the disorder. We recognize the disorder is rare, but we also believe there's plenty of people who haven't been diagnosed. We received the diagnosis after exome sequencing, which is an expensive genetic test that has only been used in recent years. Unless a person goes through the gamut of testing to get to exome sequencing, it's unlikely they'd receive this diagnosis.

MCAHSS1 falls into the category of Congenital Disorders of Glycosylation (CDG). Per the National Organization for Rare Disorders, "Glycosylation is the process by which sugar ‘trees’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins; when they are attached to lipids, they form glycolipids. Glycoproteins and glycolipids have numerous important functions in all tissues and organs. Glycosylation involves many different genes, encoding many different proteins such as enzymes. A deficiency or lack of one of these enzymes can lead to a variety of symptoms potentially affecting multiple organ systems. CDG can affect any part of the body, and there is nearly always an important neurological component. CDG can be associated with a broad variety of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases."

Makes perfect sense, right?

Essentially, the mutations of Teddy's PIGN gene affect his body's ability to send messages and connect information because the pathways and processes don't function typically. 

You can find more technical explanations of this category of rare disorders through the National Organization for Rare Disorders at rarediseases.org/rare-diseases/congenital-disorders-of-glycosylation/

There's also more information about Rare Disease Day through www.rarediseaseday.org

Join us in making the voices of rare diseases heard.

(And thanks for listening to Teddy's voice.)