Meet Colbi

Colbi is a resilient and affectionate four year old from Gulfport, Mississippi where she lives with her parents, Megan and Joseph. Colbi is affectionately known as a little diva who loves being outside and hanging with her sisters, Kylee and Carsyn. This month’s “Bloom Where You Are Planted” t-shirt design is inspired by this family’s journey into the world of rare. Every purchase in November will go to help purchase storage systems to keep Colbi’s medical equipment supplies organized, giving her family easy access and allowing more time for things that matter most.

We invite you to watch her video, read her story, and subscribe to our podcast to listen to a conversation with her mom & dad.

In 2019, Megan and Joseph were excited to add another member to their family of four. Following a full-term pregnancy, the long-awaited day arrived when they welcomed their daughter, Colbi. All seemed well, and the family prepared for discharge from the hospital until Colbi exhibited signs of a potential seizure. This prompted a scheduled MRI, which revealed a startling diagnosis – Colbi was missing the middle section of her brain. While not entirely unheard of, the doctors cautioned the couple about the array of symptoms that could arise from this condition.

After spending two weeks in the local NICU, Colbi was airlifted to the University of Mississippi Medical Center (UMMC) in Jackson, MS for more specialized care. Their objective was to uncover the root cause of Colbi’s condition and, hopefully, return home as a family. Despite numerous genetic tests, the family remained in the dark regarding Colbi’s underlying diagnosis, prompting them to focus on symptom management. In April, after a series of failed swallowing tests, Colbi received a g-tube. The couple also pursued whole genome sequencing.

Time seemed to drag on as Colbi remained hospitalized. By the time June rolled around, they received the diagnosis: Colbi had a rare genetic disorder known as Combined D2-L2 HGA. She was only the second documented case in the United States, with a mere twelve worldwide cases and scarce medical research on the affected genes.

Reflecting on that challenging period, Megan shared, “When you look up the diagnosis, it says the life expectancy is six months, and that was considered optimistic. Receiving that news, our hearts were shattered but our support system kept us strong. My dad is an introvert and a man of few words. After receiving the diagnosis, he handed me the poem ‘Welcome to Holland’ and assured us everything was going to be okay. From that day to now, that message has been our theme in life.”

With a name for the diagnosis, the family still had much to learn about what it meant for Colbi.

“Things seemed to go well and then all of a sudden Colbi would stop breathing and would have to be intubated and extubated over and over again. It finally got to the point where we decided that a trach was in Colbi’s best interest. She had that procedure in July. Coming off of the sedation was horrible and we were still learning Colbi’s metabolic disorder,” Megan explains.

One of the most significant revelations about Colbi was her unique temperature range: her normal temperature ranges from 93-95 degrees Fahrenheit.

“Realizing that was a game-changer. If Colbi gets hot, she gets mad. If she gets mad, she stops breathing. That was one of the moments we realized we had to throw out the book when it comes to Colbi’s care. She’s second in the United States, we have to learn her book and treat her accordingly,” Megan shares.
After a series of medical procedures, including a g-tube insertion, trach surgery, and nine blood transfusions, Colbi finally graduated from the NICU after 223 days.

In the following year of Colbi’s life, she spent extended periods in the hospital, totaling three months.

“As I began to trust that I knew my kid, I could truly advocate for her. Since that first year, we’ve only been hospitalized once. We do everything we can to keep Colbi home and we are so thankful to have a crew of nurses that have become family. Even the ones that have left continue to visit and check-in with Colbi. As my great-aunt once said, Colbi is living off love. According to the medical books, she should not be here. She is thriving because of love.”

Today, Colbi is four years old and is affectionately known as a diva who adores snuggles and serves as a confidant for everyone’s secrets.

“Colbi is extremely affectionate. When her dad or sister, Carsyn, comes home, she will be asleep and will instantly wake up and light up. Colbi and Carsyn have such a special bond. To Carsyn, Colbi is Colbi; there’s nothing wrong with her. I remember one day, Carsyn had a friend over who expressed her sympathy about Colbi. Carsyn responded with, ‘Why? You use glasses to see, Colbi uses a trach to breathe,’” Megan giggles.

When Colbi isn’t getting snuggles from her favorite people, she is working hard in physical and occupational therapy. “Every Thursday, we go to the Children’s Center at the University of Southern Mississippi. They have impacted our life tremendously. While it’s therapy for Colbi, it’s also therapy for me and the family. They taught me how to interact with my daughter. They gave me my role as mom back,” Megan shares.

Reflecting on their journey as a family, Megan shares,

“She does so much more than what people think. She smiles everyday. The things she was never supposed to do, she does. Compared to that first year, my husband and I have so much peace. It doesn’t make sense to me sometimes. If I could go back to that first year, I would tell myself that it gets easier once you accept that new normal. It is mind over matter. Choose joy, positivity and looking at the brighter side. It’s hard because you’re going to hear all the negative things, but if you choose differently, it’ll happen. You choose your child’s journey. You can’t change their diagnosis or control how long you have with them, but you can choose to use your time wisely. Everyday, you have to choose.”

While the depth of Colbi’s diagnosis remains a mystery, she is teaching everyone around her about what it means to just be Colbi. Currently, there is no gene therapy or research happening for Colbi’s diagnosis because of its rarity. Nonetheless, she is living a full life, surrounded by a village of people who are captivated by her presence.

“Colbi is so contagious. Her presence is contagious. Her joy radiates. She makes you a better person just by knowing her.”

Time to get loud shouters!

Throughout the month of November we will be shouting loud for Paisley!

So click here to shop now where every purchase in November will go to help purchase storage systems to keep Colbi’s medical equipment supplies organized, giving her family easy access and allowing more time for things that matter most.

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Every purchase in November will go to help purchase storage systems to keep Colbi’s medical equipment supplies organized, giving her family easy access and allowing more time for things that matter most.