Meet Auron, Ruby, & Stella

On November 23, 2012, Katie and Joey welcomed their second baby boy into the world and gave him the name Auron, meaning “mountain of strength.” A testament that has proven true throughout Auron’s life.

Leading up to Auron’s birth, Katie experienced a normal pregnancy, aside from measuring one-to-two weeks ahead. Doctors periodically monitored this, but it wasn’t until after the delivery that they learned it was due to an excessive amount of amniotic fluid, which they later learned was a condition called polyhydramnios. This condition, combined with Auron’s low muscle tone, made it nearly impossible for him to make his way into the birth canal.

After some adjustments to the birth plan, Pitocin, and a few pushes, Auron entered the world and immediately had to be suctioned. He was purple from the mucus he couldn’t clear, and for what seemed like several minutes to his parents, didn’t initially make any sounds or cries. While everything happened so fast, Katie and Joey do remember counting his fingers and toes and enjoying time with their new baby boy. On day two of being in the hospital, Auron had to go to the NICU due to respiratory distress, but soon enough, the family was released to settle in at home.

“The next three months are kind of a blur. I so badly wanted to nurse Auron, but he was struggling. It was right around his three-month visit that his pediatrician said he was ‘failure to thrive’. These were difficult words to hear. I was trying to nourish my new baby, but he just wasn’t getting enough nutrition. He was extremely weak and always tired. We started supplementing and even received donor breast milk from a trusted friend. I always had a hunch that something wasn’t right, but I thought if we could solve his feeding issues, then we could potentially turn this corner.” Katie shares.

Around the same time, Katie and Joey noticed that Auron wasn’t smiling or able to hold his head up and continued to be very small for his age. Auron’s pediatrician sent the family to meet with a Neurologist to be evaluated. The neurologist ordered a brain MRI, and when that came back abnormal, Auron was referred to the Genetics clinic, as a genetic disorder was now suspected.

After 3 years of ruling out other genetic disorders through genetic testing, Auron’s geneticist ordered Whole Exome Sequencing, and that ultimately provided the family with answers (and left them with many more questions) for the cause of Auron’s health concerns. Results showed that Auron has a random change (de novo) in his ARID1B gene sequence which has caused an array of diagnoses including Coffin-Siris Syndrome, Epilepsy, Autism, Cyclic Vomiting Syndrome, Respiratory Insufficiency, and many others, throwing the family in to a world of specialists.

“Throughout those first several years, Auron continued to struggle to meet milestones with private and in-home therapy. Auron experienced aspiration episodes that would cause him to have diminished breathing, causing his skin to turn blueish-purple, that would eventually lead him to having a g-tube surgically placed and oxygen in the home. Things seemed to be becoming more difficult for Auron as he just seemed sickly and weak more days than not. There were a lot of terrifying emergency calls for that first year and for several years to come due to respiratory distress and seizures.” Katie shares.

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Today, Auron is ten years old, and his family has learned so much since that first year of his life. They have spent the last decade working closely with Auron’s team of doctors and therapists to ensure Auron has emergency treatment plans in place and are able to provide him the very best quality of life.

“Auron’s biggest medical complications to date have been controlling his epilepsy and keeping his lungs healthy and functioning appropriately. For years, Auron has experienced recurrent pneumonia to the point where he has required bipap with high flow oxygen, spending five to ten days in the pediatric ICU to keep his lungs open. Sometimes, this happens several times each year. Keeping Auron healthy has always been really difficult. A typical cold for you or I is life threatening to Auron, and that is absolutely terrifying.” Katie shares.

Aside from the medical journey , Auron’s family has also had to overcome challenges regarding Auron’s education.

“Auron currently attends Bridgeway Academy, a private autism school with ABA therapy and a 1:1 aide dedicated to him at all times. However getting Auron into an environment that is best suited for him didn’t come easily. While his public school did their best with the resources they had, it took several months of advocating for my child to get him the support, therapies, education, and life skills he needs to thrive. Having him in a school that meets him where he is developmentally and emotionally has been a game changer in so many ways. Auron loves school. He is always excited to go and never likes to miss.”

When Auron isn’t at school, he enjoys going on adventures, making creations with Duplo Legos, and watching his favorite movie, Toy Story.

“When you are non-verbal, you seem to take in the world in a different way – and one of my favorite things is watching him do so. Auron is very playful and curious. For a kid who has spent his life in and out of the hospital and experienced a significant amount of medical intervention, he is a kid that truly never takes a breath of life for granted. He loves life so much.” Katie shares, “We all have stressors in our lives, being his mom has definitely changed me as a person because ultimately, we have to roll with the punches. It’s incredible to see him go through the most difficult things and come out on the other side with a smile and appreciation of his life.”

After all the years of advocating, Katie has this advice:

“It takes a lot of courage to advocate. The assumption is that doctors always know what is best. As a special needs parent to a child living with a rare genetic disorder, you learn that your doctor will not have all of the answers. Together, you’re a team in navigating your child’s journey. Ask the questions and advocate for what you believe in. You have to have courage to address your concerns and speak up. We work with so many specialists in regards to Auron’s care. We have learned that they all overlap in some capacity so it’s extremely important to communicate.”

On top of advocating for Auron, Katie volunteers her time by sending newly diagnosed Coffin-Siris Syndrome families a welcome packet on behalf of the Coffin-Siris organization .

“It’s my labor of love project. It fills my heart because I know what it feels like to not have any answers regarding your child and then be handed a diagnosis that no one fully understands. Raising rare is complex in so many ways and we want our families to know that they are not in this alone.”

While the road to getting Auron’s diagnosis was long, navigating life with Coffin-Siris Syndrome is its own journey filled with a lot of questions. Luckily with a group of families on similar medical journeys, the path doesn’t seem as lonely. In fact, it brings a lot of hope.

Time to get loud shouters!

Throughout the month of January we will be shouting loud for Auron!

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In 2014, Julia and Eric waited patiently for the day they were holding their baby girl, Ruby, in their arms. Julia experienced a normal pregnancy up until 36 weeks. That’s when the concerns arrived.

“We were at an ultrasound when they told us that they needed to take a second look at Ruby’s heart. We thought maybe she had a heart defect that would only need one surgery. But when she was born, weighing only three pounds, we quickly learned about a bunch of other things: Our doctor told us that if there are more than three things about a baby that are different, there is usually a syndrome involved,” Julia recalls.

Ruby was referred to a doctor an hour away in Indianapolis. While blood tests were done for an answer, the doctor suspected that Ruby may have Coffin-Siris syndrome, a rare condition with around 500 cases worldwide. “One of the signs was Ruby’s pinky fingers. She was born with no nails on her pinky fingers, which is an indicator of CSS,” Julia shares.

While Julia and Eric awaited the blood test results, they continued to wrestle with Ruby’s heart issues and feeding problems, eventually leading to a G tube.

Reflecting on that time, Julia shares, “Once the blood tests confirmed CSS, we were thrown into this world of specialists. We saw everyone because they weren’t sure what the future looked like.”

While CSS presents itself differently, Ruby’s main problem has been cardiac issues.

“CSS is a gene mutation where six genes can possibly be affected. In Ruby’s case, the gene affected has only been found in 3% of CSS cases. She has the rarest of the rare,” Julia explains, “Ultimately, the mitral valve in Ruby’s heart is not opening up all the way so we’ve had to have three open heart surgeries. Two to try to repair it, and more recently, one to replace the valve. This isn’t usually done with people her size.”

Ruby was only four years old, weighing twenty-five pounds, by the time she had her third open-heart surgery. Since then, only maintenance has been done to help keep the valve functioning.

“Every year, we pray and cross our fingers that it’s working because at some point, she’ll have to get it replaced again,” Julia shares.

Today Ruby is eight years old and is known as being a sassy, sweet, and kind little girl who loves Sesame Street, reading books or listening to music. Along with CSS, Ruby is also diagnosed with autism, developmental delay. She uses her own special form of sign language and her AAC to communicate and eats through a g-tube.

“The best way to describe Ruby is like a light. She lights up every room she is in and has the most infectious smile. Even though she can’t verbalize it, she is so animated with her facial features. She has the biggest personality and is full of energy,” Julia gleams.

On an average week, Ruby attends forty hours of ABA therapy per week, working on life skills such as eating, potty training, dressing, and brushing her teeth.

Reflecting on their journey, Julia shares.
“I remember when she was born, I looked forward to the day she was going to eat cake on her first birthday, but it wouldn’t be seven years till that day came. Thanks to her therapy, she can now participate in things like school birthday parties, even if it’s just a little frosting.”

While CSS brings a lot of uncertainty for the future, Ruby and her family have found a lot of hope through the CSS communities.

“Through social media, we have met so many families with kids who have CSS, six of them even live in our area! It has been a huge resource but then the parents of these kids have become some of my best friends. We have this friendship where we are truly involved in each others’ lives. With a rare diagnosis, the community may not be big but it is still so powerful, Julia shares.

Time to get loud shouters!

Throughout the month of January we will be shouting loud for Ruby!

So click here to shop now where every purchase in January will help with the cost of an adaptive bicycle for Ruby.

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In 2016, Pam and JC Cupp were anticipating the arrival of their first baby who they would name Stella. During pregnancy, Stella was diagnosed with Intrauterine growth restriction (IUGR), meaning that Stella was not growing as expected.

“Week after week, Stella wasn’t measuring any bigger and stopped moving as often. My OBGYN decided to deliver early and put me on the books for a scheduled c-section at 38 weeks,” Pam recalls.

Stella was born weighing only 4lbs and 14 oz and immediately showed signs that feeding would be difficult. During that time, Pam shares

“At one time, we had four lactation nurses trying to help her latch. Eventually, they sent us home hoping she’d get the hang of it. On day three, we took Stella to her pediatrician for a check-in and found out she was losing weight. Even still, we were advised to just keep trying.”

After returning home, Pam and JC noticed that Stella was very lethargic and took her to the ER. Stella was admitted with “failure to thrive” and received a NG tube until she gained strength and started to eat more.

The family remained in the hospital for six days. During this time, Pam was still pumping and trying to orally feed, but Stella continued to not eat. Eventually the family returned home and Stella slowly started to gain weight to the point where her pediatrician decided to take out the NG.

“We hoped things would get better but it never did that first six months. She was gaining weight, but not enough. I feel like a lot of our doctors didn’t understand that, but I knew something else was going on. We had to fight for answers. We referred her to early intervention for occupational therapy for feeding to increase her overall muscle tone. It was then that our therapist confirmed our suspicions that there was something else going on. As hard as it was to hear, it was nice to know we weren’t crazy. We were doing everything we could and didn’t know how much longer we could live like that with no sleep,” Pam shares.

As Stella grew, she began having ticks where she would jerk her body around. As a sign for concern, her pediatrician referred the family to neurology. At first, a diagnosis of Cerebral Palsy was speculated, but later ruled out. Then, GI got involved and scheduled Stella for a g-tube placement surgery.

“When Stella got her g-tube, it was the first time that we had a consistent feeding schedule. Her nutrition no longer was life or death. In the first couple of weeks, she gained an entire pound. From this day on, she started progressing through milestones much more quickly.” the family shares.

While the family was keeping up with OT and PT, the genetic testing eventually came back showing a genetic syndrome. The neurologist shared that Stella has two gene deletions, with one of the deletions causing Coffin-Siris syndrome.

“When we received that diagnosis, my first thought was life expectancy. That’s when we learned that there isn’t a lot of information about CSS because older people who have it didn’t necessarily have access to the tools available to get diagnosed. After everything, getting the diagnosis was such a huge weight off of our shoulders. Finally, I was able to get rid of the ‘mom guilt’ as to why she wasn’t feeding,” Pam shares.

From here the family transitioned into their new normal filled with speech, nutrition, developmental and vision therapy.

Today Stella is six years old and is known as being a silly, curious and energetic little girl who loves letters, numbers, and going for walks. Since being diagnosed with CSS, she has overcome reflux episodes, received an Autism diagnosis, and recently had surgery on her eyelids to help her see correctly.

While the first four years of Stella’s life were focused on getting her to eat, Pam and JC have now shifted their focus to help Stella communicate.

“Figuring out what Stella needs is our biggest challenge, but I will do anything for her to just be comfortable, happy and live her best life. She is nonverbal and the social aspect can be very difficult for her. She has always been one of those kids who is always in her own world. Eye contact is difficult for her, wanting to cuddle has never been her favorite. She likes to do her own thing,” Pam shares.

To help Stella communicate, Pam and JC started with picture exchange communication cards and more recently got Stella an AAC device.

Looking back on their diagnosis journey, Pam shares,

“When we got her diagnosis, I googled it and then I found a facebook page. It was still pretty small but I posted about Stella. It’s crazy the people you meet. Julia, Ruby’s mom, was one of the first families I connected with. This facebook group led us to attending a Coffin-Siris Conference. It was amazing to walk into a room of people who have the same diagnosis as your child, even if our kids present it so differently.”

Throughout Stella’s diagnosis journey, having a community of people to lean on has been one of the biggest blessings. Even though a Coffin-Siris syndrome comes with a lot of unknowns, Stella’s family holds onto the hope they witness in their fellow CSS community.

Time to get loud shouters!

Throughout the month of January we will be shouting loud for Stella!

So click here to shop now where every purchase in January will help with the cost of an adaptive bicycle for Stella.

To help support kids like Stella every month, click here to start a monthly subscription.