22q11.2 Deletion Syndrome: Jasmine's Story
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Jasmine just turned 14. Like a lot of teenagers, she loves riding her bike and rollerblading. She’s also a movie buff and loves to play board games with her mom. Jasmine has made extraordinary gains in her life despite the physical, emotional and developmental challenges of living with 22q11.2 deletion syndrome.
Jasmine’s progression has everything to do with early diagnosis and intervention, a dedicated mom, and resources from Children's Hospital of Philadelphia (CHOP) that support families facing this diagnosis.
Not long after Jasmine’s birth, she was placed in foster care. She would remain there from the age of 4 months to one month shy of her third birthday. Veda, a family cousin who advocated for Jasmine, stepped in early to provide support. Veda later obtained legal custody of Jasmine and is now her mom.
There were signs from the start that something wasn’t quite right with Jasmine’s health. She had difficulty putting on weight. Doctors at two hospitals puzzled over the nature of her symptoms. It wasn’t until she arrived at CHOP’s Main Campus, when she was 8 months old, that her condition was assessed and diagnosed with 22q11.2 deletion syndrome by caregivers in the 22q and You Center at CHOP.
22q11.2 deletion syndrome is a chromosomal disorder associated with a small, missing piece of DNA on the long arm of chromosome 22. Children diagnosed with the chromosomal difference can have any combination of numerous health problems across multiple systems including heart defects, a cleft palate, immune system differences leading to difficulty fighting infection, problems with feeding and swallowing, developmental and speech delay, learning disabilities, and autism. As with any condition, early diagnosis makes a difference.
“In the beginning it was a little scary because I was unaware and I didn’t have an understanding of 22q11.2,” explains Veda. “Once CHOP educated me and gave me the information that I needed, it helped me tremendously. I realized that I could get out of Jasmine what I put into her, so I had to make an extra effort.”
Jasmine has many of the characteristic challenges associated with a 22q11.2 deletion, including scoliosis, a high palate (though not high enough to require surgery), asthma, gastrointestinal issues, a defect in her aortic heart valve, and emotional and developmental challenges.
Because of the complexity of her condition, Jasmine sees multiple specialists at Children's Hospital of Philadelphia, coordinated by the 22q and You Center.
“We have a wonderful relationship with CHOP. They work very well with me in terms of a schedule and coordinate with Jasmine’s school.”
When Jasmine was very young, she had severe coordination problems. She couldn’t walk without falling and had difficulty with balance. To improve Jasmine's skills, she saw an occupational therapist at CHOP, as well as a physical therapist.
At home, Veda encouraged Jasmine to do activities that continued to build her strength and confidence. Jasmine began karate lessons, swimming and ballet. Over time, she built muscle and was able to keep up with her peers.
Today, Jasmine’s hard work has paid off. She is on a dragon boat rowing team at school. She can ride a unicycle. And last year, she was a cheerleader.
Jasmine also had speech challenges due to the high palate in the roof of her mouth. But after years of coordinated speech therapy at CHOP and her school, Jasmine has blossomed. Recently, she won first place in an oratorical contest among seventh graders at her school, and won first place among her entire middle school in 2017.
Jasmine has a reading and math disability, and in recent years was diagnosed with attention deficit hyperactivity disorder (ADHD). Veda took a parent course at CHOP to learn more about the diagnosis and ways parents can better support their children. Working with a psychologist at CHOP, Jasmine and Veda were able to develop an individual education plan (IEP) for school to ensure Jasmine gets the tools she needs to succeed.
Veda credits much of Jasmine’s growth and achievements to support the family has received from CHOP programs, events, parent education opportunities, as well as diet and treatment recommendations.
“I have seen Jasmine progress tremendously because of all the different services that CHOP offers that we’ve taken advantage of.”
"It pays to be persistent and consistent with doctor appointments, treatments, diet and exercise, and supplements have helped tremendously. It takes a lot of patience and understanding that your child is different,” says Veda.
CHOP’s 22q and You Center is an international treatment center, and the largest program in the world that specializes in long-term management and research breakthroughs for this complex condition. Through the center, families from across North American and beyond access exceptional and coordinated healthcare and programs that maximize their child’s potential.
Veda meets once a year with members of the 22q and You Center and twice a year with care workers at CHOP to discuss how Jasmine is progressing in school and which activities she's participating in. CHOP clinicians have directed Veda to support groups, programs and events dedicated to families of patients affected by 22q11.2 deletion syndrome, such as the 22q Awareness Days, 22q at the Zoo - Worldwide Awareness Day, 22Q and Boo, retreats for Moms of children with 22q11.2 deletion syndrome, and the International 22q11.2 Foundation.
Jasmine has also directly benefited from CHOP’s recommendations. Every year since she was 8 years old, Jasmine has attended a three-week camp for kids affected by the 22q11.2 deletion syndrome, which was initiated by the directors of the 22q and You Center at CHOP. It's broadened her skills and introduced her to new friends with similar experiences.
The 22q community of parents and families has also provided needed support, Veda says. “I highly recommend that parents network with other parents. CHOP recommends schools and services, but we recommend extracurricular activities to each other. We give testimonies. We share photos. We ask questions.”
When parents like Veda have the information they need and support mechanisms in place, they can face the challenges presented by having 22q11.2 deletion syndrome alongside their children and provide them with the tools they need to grow and thrive.
For now, Jasmine is focused on the upcoming year: She's looking forward to an eighth-grade dance, and will soon graduate from middle school. “I’m super excited and nervous about selecting a high school for ninth grade,” she says.
Jasmine also has big plans for her future career.
“One day, I want to invent something. I don’t know what yet, but I think about it all the time," Jasmine says. "It’s also my dream to be a judge on America’s Got Talent. Hopefully, one day you will turn on your TV and see me as a judge.”