Leesburg family receives community support after son’s rare medical diagnosis | News
With three boys aged four and under, life in Alexa and Ian Beichler’s home in Leesburg is understandably busy and unpredictable.
However, after two of their sons, Taylor and Jax, were diagnosed with a rare genetic condition called PKU, or Phenylketornuria, the Beichlers’ lives changed and they became advocates for disease awareness as they received support. community through their social network. media publications and fundraising efforts.
According to information from March of Dimes, PKU is a condition in which the body is unable to break down an amino acid called phenylalanine. Amino acids help build proteins and without treatment, phenylalanine builds up in the blood and causes health problems. The disease affects approximately one in 10,000 to 15,000 babies in the United States each year.
In the United States, doctors examine infants for PKU before leaving the hospital by taking a few drops of blood from the heel.
PKU is genetic, but for a person to develop the disease, they must inherit a particular gene from both parents.
Their sons are Carson, 4, Taylor, 18 months and Jax, 3 months. Ian is a fourth grade teacher at Ball’s Bluff Elementary School in Leesburg and Alexa stays home with the boys and helps support the family with her Send Me Personalized business, which personalizes “almost everything”.
Alexa Beichler said when her son Taylor was born he was a healthy, beautiful baby and there were no signs that anything was wrong with his health. However, five days after the birth, a doctor called the couple with the heel test results.
“The doctor read the news and said it was the worst case he had ever seen before,” she said. “We had to do another test to confirm the diagnosis and then wait.”
“It was the longest weekend of our lives,” she said.
Once the diagnosis was confirmed, they immediately had to put Taylor on a strict low-protein diet, giving her an expensive formula.
If he consumes more than two grams of protein a day, it can go back up through his bloodstream and into his brain, which his body can’t process, she said.
Now that Taylor is older and able to eat solid foods, her diet is limited to fruits and vegetables and special medical foods, giving them limited options — and also being expensive.
“A two-pound bag of mashed potatoes is $56,” Beichler said.
“Pasta is $15.99 a bag. It’s incredibly expensive to feed him and none of that is covered by insurance,” she said. “The formula for a child is $12,000 a month, which they need for the rest of their lives.”
Beichler discovered that if Taylor has too much protein in his system, it changes his behavior and he becomes more aggressive. Another side effect is that it can cause brain fog and feelings of depression, she said.
They go to the hospital for weekly blood tests to make sure protein levels stay within the range they’re supposed to be.
Three months ago, when their son Jax was born, he too tested positive for PKU.
“He sometimes gets inconsolable until we lower his protein levels,” she said.
Caring for two young children with PKU and a son who can eat “normal” food also presents challenges, she said. For example, a cup of milk can’t be left out so expensive that Taylor tries to drink it.
And the disease makes it difficult, she said, because they won’t have the same experiences with food, she said.
The couple are grateful for the community support that helped raise funds for the expensive formula and medical food. A portion of sales from Alexa’s business is donated to various PKU charities, which help families access medical food assistance and resources to manage PKU as well as help find a cure.
“The response is so amazing. We are really lucky to have so many great friends,” she said.
In addition to the Send Me Custom Facebook business page, Alexa also raises awareness through a Facebook group called Taylor and Jax’s Phearless PKU Journey, where they regularly host online fundraising events.
On Rare Disease Day in February, the Beichlers posted photos from a recent family session, while wearing shirts that read “I’m wearing blue for PKU.”
Beichler said she was blessed and wanted to do what she could to help find a cure for the disease.
“They are here and are healthy now. We are grateful for every day with them,” Beichler said.