Local Lifestyle, News

Student and family strive to raise awareness about rare genetic disease

by Kate Evans

Berkeley Springs High School senior Rachel Nuckles has struggled with the challenges of living with what doctors thought was cerebral palsy since she was around age one.  When two neurologists weren’t sure that was her correct diagnosis, Nuckles had genetic testing done in 2021 that indicated she was positive for the pathogenic KIDINS220 gene variant.

Rachel Nuckles–senior photo

The genetic variation is extremely rare, with only 44 cases identified so far in 19 countries in their Facebook support group.  There are an additional 17 cases in another group in Italy, said Rachel’s mom Elizabeth Nuckles. Rachel’s father is David Nuckles.

Rachel and Elizabeth Nuckles both wanted to share their family’s story to help raise awareness of KIDINS220.

KIDINS220 is a protein that’s essential for the central and peripheral nervous systems, Elizabeth Nuckles said.  When the gene is depleted or non-existent, it can cause symptoms such as spastic paraplegia, intellectual disabilities, enlarged brain ventricles, eye disorders, obesity and joint stiffness.

Rachel was a full-term baby and there were no problems with her delivery, her mom said.  But at 11 months, Rachel wasn’t bearing any weight on her lower limbs.  At 18 months old, she was diagnosed with cerebral palsy.

Elizabeth Nuckles said that Rachel’s condition looked like cerebral palsy.  Rachel had developmental delays, spastic diplegia of the lower limbs and motor coordination issues. She went through physical therapy in childhood and had leg braces, a wheelchair and a walker.  Rachel also had leg surgery and Botox and alcohol injections to try to loosen her muscles.  She was finally able to stand, walk and run.

The genetic mutation’s effects vary greatly, said Elizabeth.  Some children can’t walk or get out of a wheelchair and they may scream, bite and scratch. Some may have autistic tendencies.

Elizabeth and David have both been tested and neither carry the KIDINS220 gene variant.  It’s believed that Rachel developed it on her own.    Some parents in their support group are finding that they have the KIDINS220 gene after being tested. Genetic testing is more affordable than it was 15-20 years ago.  Patients can specifically be tested for just the KIDINS220 gene, said Elizabeth.

Her journey

Rachel Nuckles said that she’s lived all her life with seeing many doctors and having lots of medical tests and appointments.  She had developmental delays and difficulties standing and missed a lot of school.

Rachel said that her lower leg weakness causes her to fall.  She has vision changes and is sensitive to noise. Rachel said she also has trouble falling asleep, weight gain and anxiety and depression and is very forgetful.

Rachel has central pain on a day-to-day basis.  Her skin feels like it’s on fire and her hair hurts when she brushes it.  With the muscle contractions she gets, her arms and legs shake and her jaw will sometimes clamp shut for hours, she said.

Rachel Nuckles said that physical therapy helped her as well as leg braces and exercises.  Standing on their staircase on the balls of her feet, then standing on the top of her feet, then taking a normal step and bringing her feet together and standing on her heels stretches her legs.  Another exercise is stepping over objects, which helps with balance.

Support group

Rachel said she regularly posts in their Facebook support group’s private page to help younger kids with the KIDINS220 gene variant and their families understand her symptoms, challenges and what treatments have helped her.  The families find support there and celebrate milestones when kids can finally stand or swim, said her mom.

When Rachel was little, her dad made her a shelf and put her toys and treats up on it, said Elizabeth Nuckles.  It encouraged Rachel to pull herself up to a standing position.  Rachel shared that idea with their group and a family in Europe built a table with handrails to help their child.

Rachel said that a lot of faith and a positive attitude have gotten her through everything.  She sets goals and takes steps to reach them. Knowing that there are other children and families that are living with this condition makes her share more about what she’s experienced.

The future

Rachel Nuckles said she wants to be a special education teacher. She plans to start taking college courses part-time, probably at Blue Ridge Community and Technical College either this fall or next spring, said her mom. She’s currently looking at virtual classes.

Rachel said she’s always thought about being a teacher.  Disabled kids are hard to understand and she feels she’d be more connected with disabled kids because of her own disability. Rachel feels she can relate to people with special needs and help them overcome obstacles.

Rachel loves the performing arts and is involved in choir, dance, ukulele, violin, guitar and piano.  She takes ukulele and violin at BlackCat Music Shop and is also doing BlackCat’s adult vocal rock and roll class. At the high school, Rachel takes choir, drama and dance. She would like to incorporate music into her teaching.

Rachel Nuckles was inducted into the Berkeley Springs High School National Honor Society at a Tuesday, February 16 ceremony.
photo by David Nuckles

Raising awareness

Their online support group celebrates February 25 as an annual day to raise awareness about the KIDINS220 gene variant and the rare genetic disease it causes.

Rachel said raising awareness is important so that people could get tested, properly diagnosed and treated and research could be done to find medicine, treatment and a cure so individuals can receive support and families and patients can have hope.

Elizabeth said it was vital that cases of KIDINS220 be properly counted and coded for insurance.  When they go to an emergency room or to a doctor’s office about Rachel’s medical condition, providers don’t know how to properly list it or code it.  Having an accurate count of how many KIDINS220 cases are out there is crucial for research and funding.

There may be more people out there with the KIDINS220 gene variant, especially older people, said Elizabeth.