By Dixon Bledsoe
What people notice first about 6-year-old Auvie Guentner is her beautiful smile, long-flowing sandy blonde hair and long eyelashes. The smile seems almost perpetual.
“She really does smile a lot and is happy about 85 to 90 percent of the time,” her mother Sarah Andres-Guentner said.
Her father Garth Guentner added Auvie is a natural drummer.
“It’s really about playing percussion for almost everything. If she is clapping or slapping the table like a drum, she is happy,” Garth added.
Their daughter’s story is one about being grateful for blessings – like she can hear, see and walk – three things Garth and Sarah were told their daughter would not be able to do. And it’s about realizing a small request can blossom into a network of new friends and community support.
Sarah and Garth became suspicious something was amiss with Auvie when she was 3 to 4 months old and she wasn’t hitting the expected child development milestones. They went to what seemed to be endless doctor visits where they were told by doctors their daughter would never walk, might be deaf and would be blind. Doctors also thought Auvie had leukemia.
Then her parents had Auvie evaluated through genetic testing when she was 9 months old at Doernbecher Children’s Hospital in Portland, with inconclusive results. They were told there was one more test they could try but it was extremely rare with less than a 1 percent chance of the results being Pitt-Hopkins Syndrome. The Guentner’s insisted on the test and in bittersweet fashion, they had their answer.
They finally learned Auvie has Pitt-Hopkins Syndrome (PTHS), a rare disorder currently affecting about 350 to 400 people worldwide.
Sept. 18 (In recognition of the 18th chromosome)
Visit: www.pitthopkins.org.
At the time Auvie was diagnosed with PTHS, there were only about 50 known cases in the world. Doernbecher, a world-class children’s hospital, had never had a PTHS patient before Auvie.
Sarah and Garth feel fortunate Auvie has been spared many of the conditions common for children with PTHS, like seizures, hyperventilation, sensory issues, deafness, being wheelchair-bound and blindness. They said she definitely has the signature signs of PTHS – curvature of the lips forming a huge smile, a broad nose, fast growing hair, no speech and little pads on the back of her toes and fingertips. PTHS is a genetic disorder affecting a specific gene in chromosome 18, called TCF4.
“Auvie has just a nick off of chromosome 18. If you take a miniscule nick out of the chromosome, PTHS can occur,” Garth said.
A source of comfort and joy for both Sarah and Auvie was the time she spent in her swing. When Auvie outgrew her swing, Sarah began searching Facebook for a new one. She responded to a post for swing and purchased it for $100. Unfortunately, she said, she found it difficult to get her youngest daughter in and out of the swing without assistance.
Turning to Silverton Connection on Facebook, Sarah explained her plight and quickly received a warm response from a soon-to-be bride, who wrote, “My fiancée and I have a friend whose husband makes beautiful things with reclaimed wood. He is going to make us a handmade breadbox for our wedding gift. We would like him to make Auvie a swing instead.”
The kindness of the response really touched Sarah’s heart. At about the same time, Dr. Barbara Keller called Sarah and explained her husband would like to make the swing for her as “one special need parent to another.”
Silverton residents Barbara and John Keller have five children, including a son who has special needs. John does amazing work with reclaimed wood and created a beautiful swing for Auvie. It has her name lovingly painted on the backrest.
“It works perfectly. Auvie just loves it. Not to be selfish at all, but it is really nice for me, too, as I can get her in and out without a lot of effort, and know that while she is in it I can get a brief respite,” Sarah said.
The swing was delivered the first week of August. For John, it was a labor of love. For Barbara, it was just something they loved doing and they were happy to help.
“We have a special needs son and growing up we had lots of help and guidance from other parents. They were great about finding and knowing things that would work for your child. It was about love, helping and understanding. I knew my husband could meet the challenge of designing a chair that would work, so it was a natural fit to want to help Auvie and her parents,” Barbara said.
Sarah wanted to pay the Kellers for the swing, especially since adaptive swings sell for at least $400. They wouldn’t hear of it.
“Barb and John are so talented, creative and you can tell his heart was in it,” Sarah said. “Since they have a special needs child, they are so much more aware of what being a parent of one entails in terms of everyday living. We will have her for our entire lives, and when people ask us how we do it, we usually reply, ‘We just do it. We don’t know anything different.’ It isn’t sympathy we are looking for or need. We just hope people are more aware of PTHS.”
“Auvie is not a burden by any means. It is just a way of life for us. It is our normal,” Garth added.
Auvie has a 15-year-old sister, Sofie, who helps with her care, and the Guentners are appreciative of that, knowing it can be tough on a teenager with a sibling who has the challenges PTHS brings.
They are thankful for Garth’s mother, Michelle Guentner, who has Auvie once a week and takes her to the Adaptive Riding Institute, an equestrian facility near Silverton that provides therapeutic support to special needs children through horses and horseback riding. A benevolent and loving couple who wish to remain anonymous paid $1,500 for the lessons and Auvie enjoys them tremendously.
Other than limited respite care from the state, and an incredible air filtering system worth $5,000 donated by an area company, the Guentners do not receive assistance as Auvie cannot collect Social Security until she is 18 because of their income.
They are grateful for the priceless gifts they receive from the people who support their family through little and big acts of kindness.
“We really want to say thanks to the Kellers. It was so kind and generous and was a gift from their hearts, as was the young woman about to be married who wanted to give up a custom-made breadbox so that Auvie could have a swing,” Sarah said. “Thank you for being so kind.”
They also hope people become more aware of Pitt-Hopkins Syndrome, out of concern that many children are likely to be misdiagnosed or undiagnosed. In Auvie’s short life, the number of known cases has grown alarmingly fast.
The Guentners are grateful for so many people in Silverton, who didn’t know them at first, but took a step to help them do something for their daughter.
Their daughter is clapping, the doctor and craftsman are smiling, a new bride will get her breadbox, and the parents? They know they have the support they need from community members for their daughter with an amazing smile.
