At four years old, Alexia Jambor was an active child who frequently played with her siblings.

But her parents started to notice a change in their daughter as she slowly struggled to use her arms.

“She wouldn’t pick up and play with her toys and could no longer put on her own clothes,” said Alexia’s mom, Stephanie Zendler.

Concerned, her parents started taking her to specialists to get answers all while Alexia continued to slowly lose the strength in her arms until she couldn’t move them at all by age six.

Over the next two years, Alexia saw doctors across the country and was given the same news each time: there was no diagnosis or explanation for her condition. 

Alexia has an undiagnosed condition that is suspected to be ultra rare, making it challenging to make a diagnosis that would explain why she was losing her muscle function. 

Around age six, Alexia was referred to University of Michigan Health C.S. Mott Children's Hospital’s Pediatric Home Ventilator Clinic to help further her care and work towards a potential diagnosis.

Here, the family was introduced to a team of specialists across multiple areas that have helped find treatments for Alexia and support her family as they fight for adaptive solutions for their daughter.

Finding a balance

The Zendlers saw Fauziya Hassan, MBBS, M.S., a pediatric pulmonologist at Mott and Erin Neil, D.O., a Mott pediatric neurologist. 

Hassan took over Alexia’s pulmonary care within the Mott pediatric home ventilator clinic with her transition to use of a home ventilator after a critical illness.

“The main concern when she arrived at Mott was a weak cough and prolonged respiratory infections due to restrictive lung disease and dysphagia from her muscle weakness,” said Hassan.

“We started her on a lung clearance regimen with cough assist which is commonly used among patients with neuro-muscular disorders. I found that the principles to support Alexia were like other patients with neuro-muscular disorders, despite her lack of diagnosis.”

Hassan has worked to help Alexia through respiratory illnesses, airway clearance and determining what other medications or tools Alexia would need to help her lungs perform daily functions such as coughing.

Neil has followed Alexia throughout neurological exams to test strength, sensation, reflexes, cranial nerves and marking any changes that could potentially lead to a diagnosis.

“While we wanted to narrow down a potential diagnosis for Alexia, I also wanted to keep in mind that she is still a kid and deserves to go out and have her childhood,” said Neil.

“Through all of her tests, I could also see that in order to do these activities she needed a physical medicine and rehabilitation specialist if she wanted to continue with her childhood activities.”

Once Neil realized this need, she referred the family to Alecia Daunter, M.D., an associate professor of pediatric physical medicine and rehabilitation at C.S. Mott.

Working on being a kid

Zendler expressed her desire for her daughter to be in physical and occupational therapy as much as possible to Daunter who understood why this seemed like the best possible solution.

“When we first brought Alexia to Mott, I was determined to work with physical therapy and occupational therapy as much as possible to gain Alexia’s strength back,” Zendler said.

“I didn’t know what was going on and no one else did either, the only thing I could think to do to help her was keep her muscles active.” 

However, Daunter presented a different idea: Alexia should spend less time in therapy and more time enjoying being a kid.

“When a kid as young as Alexia is kept in medical and therapy appointments most of their days, their quality-of-life changes,” said Daunter.

"Instead of being able to go out and be a kid in a way that works for her she is spending her days in a doctor's office. We want to make sure our kids are healthy but also want them to enjoy their time as a kid.”

While there was still a need for regular therapy, Daunter began working to find ways to incorporate Alexia’s exercises into her favorite activities and hobbies.

Finding adaptive solutions

By age seven, Alexia had lost the use of her legs and was still without a diagnosis.

The Zendlers agreed with Daunter that they wanted to use adaptive solutions to help Alexia enjoy her favorite activities while incorporating her physical therapy needs.

But the family was at a loss of where to start.

“We didn’t know where to get a proper wheelchair, a wheelchair accessible van, how to get her to school, etc.,” Zendler said.

“Not only was not having a diagnosis overwhelming, but we had no idea where to start when it came to adaptive equipment. There was so much to consider, including the cost, and it all felt overwhelming.”

Daunter understood this feeling of overwhelm, as she has seen it in the parents of many other patients before.

With her knowledge of different adaptability equipment, education accommodations and more she was able to help the family start moving in the right direction by giving them information about proper equipment as well as places to apply for grants to pay for the equipment.

“Children come to the medical setting with health conditions that affect them in many ways. As health care professionals, it is crucial that we keep awareness of how we can impact the individual's activities and participation in society,” said Daunter.

“Families may also be struggling with how to overcome environmental barriers or personal factors that make a huge difference in the child’s life. It can be difficult for parents to determine how to best support their child through a new diagnosis and treatments. As physical medicine and rehabilitation specialists, we can use our resources to help families sort through this web of information to find what is best for their child.”

The biggest challenge the Zendlers faced was finding proper accommodations for Alexia at school.

“We found a lack of education around how to accommodate for kids with disabilities in schools,” Zendler said.

“It took a lot of research and effort to educate her teachers on the accommodations she needs to get around school and participate in normal activities such as lunch and recess while we were still learning these accommodations ourselves.” 

The Zendlers were able to use guidance from Daunter to not only get written doctor referrals for the accommodations Alexia needed but also receive guidance on what legislation was in place to help children like Alexia receive the accommodations they need.

“Federal law requires school systems to adapt to educate children with disabilities. This is helpful to know as parents work with schools to make sure their child’s needs are being met,” said Daunter.

“Children of any ability level are entitled to an education in the least restrictive environment possible, and it is important to remind parents that they are doing the right thing for their child by advocating for their accommodations.”

For the Zendlers, having Daunter as an advocate for them has helped the family become advocates for adaptive equipment from the classroom to the playground for any child with adaptive needs.

“We want to make sure that not only is Alexia getting the accommodations she needs to be able to be a kid with her peers, but that anyone else who is needing similar accommodations currently or in the future is receiving them as well,” Zendler said.

“By advocating for our child’s needs right now, we could potentially be helping future children and families that have similar situations.”

An artist and more

Alexia has recently started fourth grade and is an avid artist. 

She enjoys any art that she can do with her mouth, such as painting and drawing on paper.

Her art has been gifted to many of her specialists at Mott and she also won a ribbon in the Saginaw County fair.

In addition to artwork, she has participated in the Runway of Dreams fashion show at the University of Michigan and is determined to be a model and participate in a children’s pageant for kids with disabilities.

She also enjoys doing physical activities such as kayaking, hiking and her favorite, swimming. 

Thanks to proper adaptive equipment, she can participate in all these activities and excels in school, especially at math.

Her parents are continuing to work on getting adaptive equipment within Alexia’s school system that not only benefits her, but any other child with disabilities who may find themselves needing the accommodation.

“Wherever the family is going, she is going,” Zendler said.

“With the proper accommodations and support Alexia is unstoppable.”

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