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Published: February 25, 2022
Living with a Rare Disorder: Evelyn’s Story

Photo of Evelyn Langdon. She is smiling into the camera and wearing a yellow shirt. There are mountains and trees with fall leaves in the background.
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[vc_row][vc_column width=”1/4″][vc_row_inner][vc_column_inner][vc_single_image image=”14658″ img_size=”large”][vc_column_text]Photo credit: J. Leigh Photography[/vc_column_text][/vc_column_inner][/vc_row_inner][/vc_column][vc_column width=”3/4″][vc_column_text]February 28 is designated as Rare Disease Day, which raises awareness for the 300 million people worldwide living with a rare disease. According to RareDiseaseDay.org, the goal of the campaign “is to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.” A disease in this instance is defined as “a disorder of structure or function in a human that impairs normal functioning, manifested by distinguishing signs and symptoms.” It is considered rare when it affects fewer than 1 in 2,000 people.

Eight-year-old Evelyn Langdon is one of the 3 to 6 percent of the population with a rare disease. The daughter of Grant Langdon, The IC’s Information and Referral Specialist, and his wife Megan, she has a chromosome disorder known as 4q duplication. The disorder occurs when a portion of the fourth chromosome is duplicated, resulting in a third copy – known as Partial Trisomy 4.

Most duplications of any chromosome usually occur at the beginning or arm of the chromosome strand (1-12) or at the tail end (23-30). In Evelyn’s case, her duplication occurs in the middle of chromosome starting at 13.2 and ending at 22.3 (scientifically referred to as 4q13.2-22.3). This duplication of the fourth chromosome is so rare that Evelyn is the only documented case.

The disorder was identified through genetic testing about 20 weeks into Megan’s pregnancy after fluid was detected on Evelyn’s brain. Because so little is known about the disorder, Megan and Grant were told that their first child had a 10 percent chance of survival and to prepare for the worst. Evelyn, however, had other ideas. From the moment she was born, she made it clear that she was going to defy the odds and write her own story.

Children with 4q duplication are affected in different ways. Evelyn has some cognitive and physical disabilities, including sensory processing disorder, developmental language delay, attention deficit hyperactivity disorder, and she struggles with uneven ground, mainly using her core for things like bicycle riding and swimming. Consequently, she has been in physical therapy, occupational therapy, and speech therapy on and off since birth to address fine and gross motor delays, and articulation and language delays.

However, none of this slows Evelyn down in the slightest. She possesses her own unique abilities and a grab-the-world-by-the-tail personality. A huge Disney princess fan, she loves the spotlight and is, according to her mom, “a diva at her finest.” She is adventurous, opinionated, mischievous, loves making new friends, and enjoys picking on her younger brother, Oliver.

“She’s just the funniest thing. She’s been playing ‘wedding’ a lot lately and is very upset that she wasn’t able to be at Grant’s and my wedding, even though it happened before she was born,” laughs Megan. “She’s hilarious.”[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”3/4″][vc_column_text]

Finding Other Unicorns

For Grant and Megan, the journey from that first, in-utero diagnosis to now has been an emotional one. Having a child with any health issue would be difficult enough. Having one with a disorder so rare that there are only a handful of known cases presents a unique set of challenges. The Rare Diseases Day site notes that “the lack of scientific knowledge and quality information can lead to inequalities in care and difficulty in obtaining access to treatment and resources.” The Langdons have experienced all of this firsthand.

From the start, doctors were unable to give them a good idea of what to expect and there were no other families or groups to turn to for support. However, through Unique, an organization that supports families affected by rare chromosome disorders, they slowly began to find and connect with other parents who have children with 4q duplication. They eventually formed their own Facebook support group for parents of “4q-ties,” (pronounced four cuties) as the group refers to their children, and currently have about 30 members.

“Being able to connect with other parents has been comforting,” Grant says. “You know, this disorder doesn’t even have its own name, so it feels like your child is a unicorn. It’s nice to know there are other unicorns out there.”

Evelyn’s disorder also means that she doesn’t fit neatly into any one category. This has led to difficulty securing the supports and services that many others might have access to. For example, the family isn’t able to obtain certain resources that are available to children with another chromosome duplication like Down syndrome.

Because of the work they each do, Grant and Megan – who is a speech pathologist for a local school district – understand the system better than most. They’ve been able to make connections and work through red tape to get some, but not all, of the support they need. They know how lucky they are to have knowledge most don’t and hope that work currently being done at the state government level will someday help fill these gaps.[/vc_column_text][/vc_column][vc_column width=”1/4″][vc_single_image image=”14663″ img_size=”large”][vc_column_text]Photo credit: J. Leigh Photography[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column width=”1/3″][vc_row_inner][vc_column_inner][/vc_column_inner][/vc_row_inner][vc_single_image image=”14670″ img_size=”large”][vc_column_text]Photo credit: J. Leigh Photography[/vc_column_text][/vc_column][vc_column width=”2/3″][vc_column_text]

It’s Okay to Ask for Help

Not surprisingly, navigating these uncharted waters can take a physical, mental, and emotional toll. Megan says if she could offer just one piece of advice to other parents of children with rare diseases, it would be to take steps to care for your mental health.

“Seek counseling. Take a moment for yourself. Don’t be afraid to ask for help, which I know is easier said than done. But if you’re not okay, you can’t take care of anyone else,” she says. “So just seek help because you need to be in a healthy place emotionally to do all the things you need to do for your child.”

Grant seconds Megan’s advice and adds, “It’s okay to feel whatever you’re feeling. Try to breathe and take it one day at a time and know that hope is out there.”[/vc_column_text][/vc_column][/vc_row][vc_row][vc_column][vc_column_text]

Resources & More Information

  • Want a fun way to show support for and recognize the value of individuals with 4q duplication? Wear mismatched socks on March 4! The date of 3-4 honors the partial 3rd copy of the 4th chromosome. Grant and Megan’s friend Jessica, who is the mother of another 4q-tie named Evan, came up with the idea, inspired by a similar movement created for World Down Syndrome Day. Why socks? Well, they look a lot like chromosomes!
  • If you or someone you know would like more information about supports, services, or resources that might be available to you, call The Independence Center at 719-471-8181 or email in**@th****.org.
  • To learn more about 4q duplication, visit .
  • To learn more about Rare Diseases Day, visit https://www.rarediseasesday.org
  • To learn more about rare chromosome disorders, visit Unique at https://rarechromo.org.

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