Bright Futures

Gwen Duthie may be small for her age, but her personality is anything but. Her mom Nicole said, “She is the brightest light. And she will overcome anything. I am sure of that.”

Nicole is referring to 22q11.2 deletion syndrome, or 22q for short, a genetic disorder that Gwen was diagnosed with when she was 18 months old.

A Missing Piece

A missing piece of the 22nd chromosome causes 22q. This tiny, missing piece can influence nearly every system in the body. In addition, 22q can cause up to 200 mild to serious health and developmental issues in children, including feeding problems, growth delays, congenital heart disease, kidney problems, immune deficiencies, breathing issues, gastrointestinal difficulties, cleft palate and craniofacial problems, calcium deficiency and bone anomalies. Children with 22q may also experience speech problems, autism, developmental and cognitive delays, ADHD and anxiety disorders.

Most cases of 22q are not inherited. Instead, the deletion typically occurs randomly during early fetal development. Most individuals with 22q have no family history of the disorder, but they can pass it on to their children. In about 10 percent of cases, a person with this condition inherits 22q from a parent. In inherited cases, other family members also may be affected.

This is not the case for the Duthie family. When Gwen was diagnosed, her parents and sibling were tested, but no other gene affecting the family members was found. Her mom maintains, “Gwen is exceedingly special.”

Gwen’s Diagnosis

Nicole knew this at Gwen’s birth. Gwen was born very small, only 4.5 pounds. Because her growth was too slow in her first year and she had trouble feeding, her parents brought her in for weekly weigh-ins. At 18 months, her pediatrician recommended genetic testing at Phoenix Children’s. It was then that Gwen was diagnosed with 22q.

Some children are diagnosed with 22q in the womb via fetal ultrasound. Some are diagnosed at birth. And others like Gwen are diagnosed during well-baby visits. Theresa A. Grebe, MD, medical director at Phoenix Children's 22q Clinic, said, “If certain conditions like a cleft palate, a heart defect or a combination of other health issues typical of the disorder are present at birth, diagnostic tests can begin immediately. Otherwise, a family doctor or pediatrician may suspect the disorder if they see a combination of  health problems or developmental delay like Gwen’s slow growth.”

The 22q Clinic Evaluation

Their doctor referred Gwen’s family to the 22q Clinic for follow-up evaluation and care. The evaluation was extensive.

“It was an all-day appointment. We must have seen eight or nine different doctors. We were given so much information on what to expect and recommendations on different medical care. It was overwhelming but also very comforting to know we weren’t alone,” Nicole said.

Dr. Grebe added, “The 22q Clinic provides a comprehensive assessment and treatment plan to our patients and their families, and offers education and support that address every child’s medical and emotional needs. Children and adults can be seen by all the specialists they need – all in one place, and appointments can be scheduled same day.”

Gwen’s Specialists

Luckily, the family lives in Mesa because they keep busy consulting with all the specialists needing to see Gwen. Nicole said, “The clinic is so helpful. When she was diagnosed, I would have been stuck reading the materials the doctors gave me and guessing what treatment Gwen needed. Instead, the clinic guided us to the right specialists and made the process as easy as possible. I was so grateful because I was a brand-new mom, learning to be a special needs parent at the same time.”

Nicole, Gwen and the whole family have learned a lot about 22q since that first year. Now six years old, Gwen’s growth issues are monitored by an endocrinologist every six months. Her feeding issues have been resolved. She is now at a healthy weight and growing well.

Doctors found a hole in her heart when she was two weeks old. Her cardiologist had hoped her heart would heal on its own, but last year, the doctors decided she needed open heart surgery. The surgery was a success, and Gwen has completely recovered.

Gwen also visits an orthopedist periodically to treat a mild case of scoliosis, which hasn’t held her back at all. She also has speech and occupational therapy two hours a week, which has helped her start to talk, a significant accomplishment for Gwen.

Nicole remarked, “We are fortunate that most of Gwen’s issues are developmental, not medical. Developmental problems are mostly treatable, and she may outgrow them. Unfortunately, other kids with 22q are not so lucky.”

The 22q Clinic Support System

Through it all, Gwen’s family relies on the 22q Clinic to support them with answers to their questions, referrals and other important information about 22q. Nicole also loves the connections to other families she’s made at the clinic. She said, “We’ve met many other parents at the clinic, especially at lunchtime. We meet in a conference room to compare notes and talk. It’s so nice to have a community to ask questions and share experiences with.”

She also credits Dr. Grebe for being an excellent resource. “She is very knowledgeable when it comes to 22q. She always has answers to my questions.”

Nicole knows that Gwen will be okay. She said, “Gwen is tough as nails. She’s absolutely amazing. She loves people. She is happy and strong-willed. I’m confident she will fight, and she will overcome anything.”

The Brightest Lights

Nicole said, “A lot of parents are terrified for the future of their child when they are first diagnosed. I would like them to know that while the journey is long, children with 22q have the brightest light. They will shine through and overcome any darkness. So don’t let it scare you. 22q is your new normal, and it’s not all bad.”

It is possible for kids to live long and healthy lives with 22q. However, Dr. Grebe stresses that early detection, monitoring and treatment are essential. Some mental health and behavioral issues may appear later in childhood and should be addressed proactively for the child to transition to functional adulthood successfully.

November is 22q Awareness Month

About one in 4,000 to 6,000 births are diagnosed with 22q. According to the 22q Family Foundation, it is the second most common genetic disorder behind Down syndrome, but most people have never heard of it. Dr. Grebe and the Duthie family are spreading the word about 22q11.2 deletion this month during 22q Awareness Month. When more people know about 22q, more funds will hopefully be available for research, and more families will seek testing and thereby receive appropriate treatment.

In nine years alone, the 22q Clinic at Phoenix Children’s has treated about 300 kids and adult patients. There are few clinics in the country dedicated to 22q, so the clinic at Phoenix Children’s often sees patients from other states. The team approach to treatment has been very successful. Dr. Grebe said, “Coordinated care has a more positive impact on outcomes. It’s better for patients and their families. They have one place to go when questions and issues arise. That is what the 22q Clinic offers.”

Learn more about Phoenix Children’s 22q Clinic.