When Jessica Bauer had an ultrasound after 20 weeks, something worrying was revealed.
“The ultrasound showed that my baby was too small for his age,” said Jessica. “The umbilical cord it was attached to to the placenta was too thin and he wasn’t getting enough nutrients from the placenta.”
At 37 weeks of age, Jessica and her husband Joel traveled from their Alpena, Michigan home to Traverse City, where doctors admitted Jessica to a larger hospital than was available at home.
Doctors started labor, concerned about the baby’s low weight.
Alexander Bauer was born on May 22, 2018, weighing just 4.6 pounds.
Alex spent the first week of his life in the neonatal intensive care unit.
“He was having trouble breathing,” recalled Jessica. “And he failed the newborn hearing test. One ear went by, the other didn’t. “
Alex also seemed to have problems with the bicuspid valve in his heart.
He faced other challenges as well. He was a small head size, and the soft patch or fontanel on top of his skull – usually allowing the skull to expand as a baby grew – was almost closed.
“There was definitely something wrong,” said Jessica.
Her instincts as a mother were on high alert.
Shortly after returning home with Alex from the hospital, the Bauers took him to an audiologist to retest his hearing.
“Strange,” said Jessica. “This audiologist told us that Alex’s hearing was perfect.”
That didn’t seem right.
Jessica wanted to believe what the audiologist was telling them, but her intuition whispered, “No.”
At around 7 to 8 months of age, Alex developed a respiratory disease. When his parents took him to see doctors for treatment, they also turned to another audiologist to retest his hearing.
This time it would be a more intensive hearing test in which Alex has to undergo anesthesia.
The results were exactly as the Bauers had feared.
“He had severe to profound hearing loss in both ears,” said Jessica. “That was hard. However, we did not know that this would be the least of our problems. “
More red flags
It seemed like Alex’s challenges were mounting.
In the first year of his life he had to wear a helmet because of a flat spot on the back of his head and a position problem in the neck.
Physical and occupational therapists worked with him during his toddler years when his development seemed slower than others in his age group.
The Bauers discussed on his first birthday Cochlear implants to help his hearing.
It would be a big decision that would involve brain surgery.
“We have decided to take him to Ann Arbor for surgery,” said Jessica. “The first ear went great.
“Some cerebrospinal fluid leaked out of the second ear,” she said. “His ears took a month to heal before we could activate the implants, but about a year before you could set them exactly as they should be.”
Around this time, the Bauers took a trip to Spectrum Health in Grand Rapids, where they met Laurie Seaver, MD, a medical geneticist with the Spectrum Health Medical Genetics Program at Helen DeVos Children’s Hospital.
“I can say I almost denied it when our doctor started talking about genetic testing,” said Joel. “But Alex didn’t reach any of his milestones. Jessica was worried about autism. “
Jessica and Joel wanted answers.
“But at the same time, getting answers can be scary,” said Jessica.
Dr. Seaver met the Bauers in June 2019.
“Alex had had a genetic test that gave normal results, but he was short for his age, had failed his hearing tests, had some heart and valve abnormalities, developmental delays, and autism was starting to show,” said Dr. said Seaver.
Alex had enough health problems to warrant extensive genetic testing, the doctor said.
“I recommended exome sequencing that tests all 20,000 genes at the same time,” said Dr. Seaver. “That’s a lot of genetic data, but I wanted to see all the probabilities.”
Dr. Seaver explained the process to the farmer.
“She made genetics understandable for us,” said Joel. “Her passion for her job was evident and we were ready to move on.”
Alex and both parents were given a blood test.
“Then we waited. You will go a little numb waiting for these answers, ”Jessica said.
One day in September 2019 the phone rang in the Bauer house.
It was Dr. Seaver with the results.
“It was a shock,” said Jessica. “She told us that Alex had something called TAF1 disorder, which is a severe intellectual disability. She said there were only 14 documented cases. “
Dr. Seaver explained that TAF1 or TATA-Box Binding Protein Associated Factor 1, is a good explanation for all of Alex’s health and development problems.
“It’s a new genetic mutation that few doctors have ever seen before,” said Dr. Seaver. “It was first found in 2015 – and with so few known cases, information about it is limited.
“Probably a lot more cases have been diagnosed than we know, but doctors don’t usually write medical papers on just one case.”
Dr. Seaver gathered information on two other Michigan cases. She accessed an international database GeneMatcherused by doctors and patient families.
“We also found and joined a Facebook support group on TAF1,” said Jessica. “There are only 13 members.”
In doing so, they found two other similar families in the Midwest.
“We hope that one day, when we run out of social distancing, we can get in personal contact with these families,” said Jessica.
“The families share their moments of joy too and it’s a real comfort to see that,” said Joel.
Moments to celebrate
Knowing the root cause of their son’s health problems has given the farmers some comfort and reassurance as they navigate their steps forward.
“We have often met with Dr. Seaver is on the phone because we are so far from Spectrum Health, ”said Jessica.
“We learned that TAF1 only affects boys,” she said. “As I was expecting our daughter soon, it eased our worries for her.”
They also learned that Alex was not going to regress.
“We can’t change his condition, but we can – slowly – help him make progress,” she said.
Dr. Seaver asked the Bauers to see them annually.
“With something so new and rare, we constantly learn new information,” said Dr. Seaver.
This information will be of great help to the farmers.
“It turns out the ignorance is the scariest part,” said Joel. “Knowledge is power. It’s good to have a name for what happens to Alex. Genetic testing has proven to be a great tool for us – and for Alex.”
Jessica said that she and her husband want to give Alex everything he needs – and that requires knowing how best to help him.
“As hard as it can be to get messages like this about your child, it helps us know how to help them,” said Jessica.
“Now we take it day by day,” she said. “We celebrate every little thing Alex does. The whole family celebrates. “
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