How an ultra rare diagnosis is impacting and changing the Zahner family
Tara and Andrew Zahner had their world turned upside down eight years ago when they discovered their first child, son AJ, had a genetic disorder that was so rare the only support they could initially find was a Facebook group run by Helen Parker, a mum in the United Kingdom.
The Kansas City couple has endured so many heartbreaks, joys, ups, downs, scares and change since AJ was born it becomes tricky to clearly iterate the story of their journey because there are so many layers to peel back.
Tara and Andrew have certainly endured more than most. Yet they are just like every other parent, they love their son. What they have come to learn through this rare journey with AJ - a journey that is ongoing and, in some respects, just getting started - is that the young man has already changed and impacted them at a level they didn’t expect, or think was possible.
“I was just talking to somebody the other day and I told them about how our son saved our lives,” said Tara, who works as a membership director at a health club. “That’s not to say either one of us were doing a lot of the wrong things. AJ woke us up to the real world and helped us truly figure out what was important and what mattered. He has totally changed me.”
“So much of who I am has changed thanks to AJ … I’m a better person because he’s my son,” Andrew said. “Mostly I’d say he’s really changed my acceptance of others and how I see people. It’s very different from before and I’m so grateful for that.”
When he was 18 months old, AJ was officially diagnosed with his rare genetic disorder through results from intensive and expensive genetic testing. The Zahner’s were not surprised by the results, said they had a good cry and continued the rest of their weekend as planned - they went to the zoo as a family.
“When he was around three, four months old I started to notice some things were not developing as quickly as with other babies… he wasn’t feeding properly and he was twitching a lot so obviously I was concerned,” Tara said. “We saw so many specialists, from cardiologist to neurologist, he started physical therapy at 13 months. We were being very proactive. My message for others is to get the genetic test. It’s really important.”
AJ has MEF2C Chromosome Deletion Syndrome and is one of only 204 documented cases in the world. When he was first diagnosed, there were only around 70 known. MEF2C deficiency causes a change (mutation) in the MEF2C gene. This mutation, often a deletion, leads to the dysfunction of MEF2C protein which is essential to the proper functioning of the musculoskeletal, cardiovascular, neurological, craniofacial, and immune systems.
AJ’s extremely rare genetic disorder and the list of systems it impacts explains why he is non-verbal, unable to walk and requires 40 hours a week of intensive therapy. It is also why over the years the Zahner’s have acquired a long list of diagnoses for AJ including epilepsy, cerebral palsy, autism and several related to his vision just to name a few.
The first five years of AJ’s life almost seems like a blur today to the Zahner’s. It is not something they will ever forget because it was full of near-death experiences. AJ was resuscitated no fewer than four times, long hospital stays, more unanswerable questions than ones with answers, the loss of a pregnancy, the birth of AJ’s younger sister Aria, more support than they ever imagined from unlikely sources, a fractured spiritual relationship restored and the day-to-day wondering of what possibly could be next.
Tara and Andrew were in the middle of a five-year firestorm and needed a well-positioned advocate as a teammate to help them realize the hopes and dreams for their son they believed were possible.
That person was Erin Underwood.
“I got AJ on my caseload when he was 3 years old, and Tara had already been through a lot. When I first met her, she was at the end of her rope,” said Erin Underwood, Senior Support Coordinator EITAS - Developmental Disability Services of Jackson County. “She met me and said you have 30 days to help me get what I need or I’m moving on to somebody else. But we learned together what services they could qualify for and how I could help them.”
“I have learned so much about resilience and compassion and passion from this family. I’m not the only person they have given this gift to, either” Erin said. “Tara has built this network of support that is incredible, and she has this gift to pass it along and help others. If somebody does something for them, they find a way to give it right back.”
After three years of more stable progress by AJ, which includes him crawling, standing, walking, and starting school earlier this month after many rejections, the axis has tipped and looking forward with hope and talking about tomorrow is not only healthy but vital for the Zahner family.
“Those first years were really hard. We learned so much, though. We have been told by medical doctors we are still the biggest experts when it comes to AJ’s diagnosis,” Tara said. “There were so many hospital stays … too many to recall them all. My husband, strangely enough, works at KU Hospital and we practically lived at KU Hospital. But we learned so much from the hospital stays, the staff would teach us how to help and take better care of AJ and we learned. He hasn’t had an in-patient hospital stay in three years and he’s making progress that we can clearly see.”
The more calm and stable waters over the last 36 months have inspired the Zahner’s to do more and expand their focus. Tara believes AJ and children with his special needs deserve the opportunity for an education. And she’s committed to making that a reality for not only her son but other children with similar needs in her community. She knows she can be loud and pushy and appear brash at times, but she believes the cause has merit and passion is a strength.
Andrew knows his son is growing up and will get even bigger and need to be carried and lifted for years to come. That’s just fine with him. It provided Andrew the motivation and drive to carve off 80 pounds and build his strength to serve a greater good. He welcomes the challenge of being tasked to do the heavy lifting physically.
“There have been times when all this was really hard,” said Andrew, a financial advisor for a major hospital. “I remember getting the genetic test results and the paperwork and information they gave us really didn’t give us much hope. I mean Facebook was where we were able to find the most real-life information we needed.
“Those first 5 years I kind of put it behind us because it was all we had just to keep him alive. Now he just continues to thrive and get stronger. And I plan to be able to carry AJ for a very long time.”
There are also little signs and clues that, while the couple know and understand there will continue to be challenges ahead, having hope for a brighter tomorrow can be inspirational.
AJ and his younger sister are starting to test each other’s boundaries in that loving yet mischievous way siblings do. Despite being non-verbal AJ is not only growing at a healthy rate he’s starting to communicate in his own way and Tara and Andrew can clearly see the progress.
“He doesn’t communicate regularly, but he is starting to communicate in his own way,” Tara said. “He shocks me with his intelligence, or he’ll crawl right into the room and look at us and touch his chair. He is starting to iterate his words … he’s still non-verbal so you must listen closely but on video you can hear it.”
Being part of the rare disease community has stuck with them. The list of partners and people that have helped them is long and they are forever grateful and changed because of that support. But they are learning that their journey is not necessarily all that unique inside the community.
The opportunity to connect with other families and share common bonds and stories and develop relationships with others familiar with their trials and tribulations is invaluable.
Earlier this year they were able to thank some people who helped them and meet some other members of the rare disease community at an Uplifting Experience hosted by the Kansas City Royals and center fielder Michael A. Taylor. It was one night at a ballpark, but the impact it has they learned can and will be far reaching.
“That was just such a special night for so many reasons,” Tara said. “Being rare, or in our case ultra rare, has so many challenges. We know them, face them and deal with them - we live with them. It was refreshing to meet others who are in the same boat, and we automatically have a bond. To feel that special is something we aren’t used to feeling. We love the Royals, of course, but to meet other families in that atmosphere was a real breath of fresh air is all I can say.”
As the pressure valves start to release a little during this extended cycle of progress for AJ, the Zahner’s are still steely focused on meeting the needs of their son, but they are also starting to see they too have a platform and enough passion and purpose to help others.
Tara signed up a team for the Uplifting Athletes 7,000 Mile Challenge because the community needs to know what the power of sport can do. She continues to lean on her deep-seated passion that children with exceptional special needs have an option to be educated in a school environment. In her words “I will raise the money and build the school myself if that’s what it takes.”
“Tara has built this incredible network all over the country and the world for AJ. But she doesn’t just use it for herself, she shares it,” Erin said. “I have gone to her with the needs of other families I work with and asked her for a resource, and she provides it for me. Andrew and Tara want to help people and connect people.
“I admire Tara and Andrew so much. At the point I got them they had begged and bartered everything but their house and that’s a lonely road. The sacrifices they have made are amazing. They did not have an off day during those early years. But giving up was not an option. While they have a lot of needs and AJ is their focus, they are always willing to help and serve others. That’s who they are because of AJ.”