Genetics Team Serves as Go-to for Mom of Son With Extremely Rare Disorder – Stanford Medicine Children’s Health Blog – Stanford Children’s Health

Asher Gerlach, age 6, is a special kid. Not only because hes one of just 2030 children in the world with an exceptionally rare genetic disease, according to medical literature, but also because he has a refreshing take on life.

Asher is super-affectionate. He snuggles with everyone, says his mom, Jen Gerlach. He cant say snuggle, so he says guggle instead. And please comes out as leese. So when he wants a hug, he says, Guggle leese? And hes hilarious. Hes always making us laugh.

Asher lives with his mom and two siblings, Isaac, age 8, and Shiloh, age 3, in San Jose, California. They enjoy being outdoors, swimming, and riding bikes together. One of their favorite family activities is building Brio trains and setting up train tracks, which often travel down the stairs and all around the houseinspired by their beloved late father, Josh, a structural engineer.

Jen is the most wonderful mother and advocate for Asher. Shes extremely well educated about his genetic condition, and shes motivated to learn as much as possible so she can help Asher and teach others, says Jenny Kim, MS, LCGC, a genetic counselor at Stanford Medicine Childrens Health.

Ashers genetic condition is Yuan-Harel-Lupski (YUHAL) syndrome. Its associated with neurological symptoms, physical differences, and developmental delays.

Its a rarely seen chromosome abnormality, which involves the short arm of chromosome #17. Its a duplication of this region that includes a couple of important genes, says Melanie Manning, MD, a medical geneticist.

Making the hard decision to proceed with genetic testing for Asher

At first, Gerlach balked at the idea of genetic testing for Asher. As a high school science teacher, she helped with the Human Genome Project, and she doubted the ability to accurately pinpoint errant genes. Yet after receiving the recommendation from different caregivers, she acquiesced. Shes extremely glad that she did.

Its terrifying for parents to take that hard step with genetic testing, but it gave me so much. It gave me the ability to talk intelligently about what is happening with my child, Gerlach says. And it gave me access to services. Before, I fought tooth and nail for services. Today, Im empowered to help Asher, and I have the tools I need to take care of him.

Stanford Medicine Childrens Health Genetics Services include consultation with geneticists and genetic counselors. They specialize in providing and coordinating comprehensive care for children and adults with suspected or confirmed genetic conditions.

Genetics has been my go-to contact. There have been many times on my journey where I knew that I needed help with a particular issue that Asher and I were facing, but I didnt know which specialty to talk to about the issue, Gerlach says. The genetics team is so informed and incredibly helpful with problem-solving.

To diagnose Ashers genetic condition, the team ran a chromosomal microarray, which can detect extra or missing pieces of genetic information. Genetic information contained on the chromosomes is in a delicate balance, and any extra or missing information may cause differences in health, development, and growth.

Knowing their childs genetic makeup is helpful for families. It helps them understand what to expect for the future, Dr. Manning says.

When families read the report of genetic findings for the first time, they can feel overwhelmed. The genetics team breaks it down in terms that are easy to digest and highlights whats important.

Finding out that he had YUHAL syndrome was horribly hard but empowering, Gerlach says. As a scientist, I joke that if you are going to have something, it might as well be cool and super-rare, but as a parent its terrifying.

The genetics team created a personalized care plan for Asher for the coming years. They also stay on top of new, relevant information related to his genetic condition.

Having genetic testing opens up options for families, Kim says. For Ashers family, we set them up with specialists, connected them with other families of kids with rare genetic disorders, and helped them get involved in YUHAL syndrome research.

Asher qualifies for special education because of his multiple disabilities. Despite his challenges, hes a high achiever without any behavioral problems.

Hes the only full-inclusion special needs child in his kindergarten class, which means he participates in all subjects with the help of a one-on-one aide, Gerlach says.

She describes Asher as a contented child who loves to laugh and goof around. The other day when she asked what he wanted for dinner, he said, First Ill eat chocolate, then a cupcake, and then noodles! Special treat first, Mama!

Genetics as a gateway to personalized, multidisciplinary care

Genetics partners with a wide range of specialties and subspecialties at Stanford Medicine Childrens Health to provide personalized, multidisciplinary care for Asher. Theres power in having all providers on the same page, especially for kids with highly complex medical and developmental needs.

Because we are so connected throughout the world, and we have world leaders in different conditions, we are able to provide care for children with these extremely rare disorders, says Miguel Moreno, MD, Ashers neurologist. Other childrens hospitals across the nation often refer children with rare diseases to us.

Asher receives care from 16 specialty programs at Stanford Medicine Childrens Health: general pediatrics; genetics; ear, nose, and throat; neurology; neuromuscular; pulmonology; cardiology; nephrology; urology; ophthalmology; plastic surgery; developmental-behavioral; audiology; orthopedics; physical therapy; and occupational therapy.

Recently, Asher was having obstructive airway issues and difficulty breathing. He needed to be evaluated under anesthesia by an ear, nose, and throat (ENT) specialist to find out why.

This was one of eight procedures that he needed, so I asked if there was any way they could do everything at once during his ENT surgery, and they did it. They coordinated it all, Gerlach says.

Douglas Sidell, MD, FACS, took charge in coordinating the day, which included a sleep-state endoscopy, laryngoscopy, tonsillectomy, sedated echocardiogram, blood draw, and more.

This level of coordination is really quite common. We try to do everything at once for all children, but this becomes particularly important in children with multiple complex needs. It saved Asher additional anesthesia, and it saved Jen from having to run back and forth to eight separate appointments and time away from work, Dr. Sidell says. It reflects on the exceptional communication we have among providers, which is part of our culture.

Getting neurological care for hypotonia and developmental delays

A main player on Ashers extensive care team is neurology. When Dr. Moreno first met Asher, he suspected a genetic disorder.

Ashers constellation of findingsfrom his extra digits, urinary issues, developmental delays, and autism featuresall pointed to a possible genetic condition, he says.

Earlier on, Gerlach worried that Asher might have seizures, so Dr. Moreno ran tests, including an EEG brainwave, which can detect abnormal activity associated with seizures. Ashers testing did not reveal seizure activity, and he did not have signs of cerebral palsy, but he was diagnosed with hypotonia (low muscle tone).

We are watching Ashers hypotonia, and we are providing extra support as he needs it, such as bracing and special orthotics so he can have confidence with walking, Dr. Moreno says. We are also keeping an eye out for peripheral nerve damage, but hes currently doing pretty well. He has good strength, and he isnt experiencing tremors or shaking.

Asher receives regular care at the Pediatric Neuromuscular Diseases Clinic, led by John Day, MD, PhD, which combines innovative research with individualized care for children with neuromuscular diseases. Hes also receiving physical therapy, occupational therapy, and speech-language therapy on a regular basis.

Asher is full of energy, and he has a great personality. Hes very feisty, Dr. Moreno says.

The right place to care for children with multiple needs

Gerlach chose Stanford Medicine Childrens Health because, she says, it is a mecca for everything. She appreciates how Ashers many doctors and caregivers work together so intricately and how the hospital specializes in rare diseases. She says she has not had a bad experience at Stanford Medicine Childrens Health, despite coming here hundreds of times.

The care has been stellar, so why would I go anywhere else? They treat Asher like a human, not a specimen, despite his super-rare disorder, Gerlach says. I always feel affirmed as a parent.

Its a two-way street caring for children with extremely rare genetic disorders. Parents, like Gerlach, play a role in moving knowledge forward.

Its been incredibly valuable to learn from Jen, especially about this extremely rare disease, says Natalie Dykzeul, MS, LCGC, a Stanford Medicine Childrens Health genetic counselor also working with the Gerlachs. You can tell that she and Asher have a special, unique bond.

Gerlach soaks in every moment with Asher, appreciating him as the complex, beautiful child that he is, all while watching him for signs of health problems. Its simply the journey that we are on, she concludes.

Learn more about Genetics Services at Stanford Medicine Childrens Health >

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Genetics Team Serves as Go-to for Mom of Son With Extremely Rare Disorder - Stanford Medicine Children's Health Blog - Stanford Children's Health