Alexander’s Story: Diagnosed with Barth Syndrome After Losing Brother

One-year-old Alexander was diagnosed with Barth syndrome before he was born; his parents knew to test for the condition after their son Elias passed away from complications in 2018. While early diagnosis and treatment are extremely helpful for better outcomes, Alexander’s condition has begun to worsen. He has been placed on the list for a heart transplant but expects a year-long wait. Until then, he is fighting.

About Barth Syndrome

Barth syndrome is a metabolic, neuromuscular disorder that is characterized by abnormal skeletal and heart muscles, stunted growth, and trouble fighting infections. It is the result of a mutated TAZ gene, which is passed down through the X chromosome. Because of this, it almost exclusively impacts males. The mutation causes issues with the production of tafazzins, a group of proteins that play a role in the function of mitochondria and the development of bone cells. This results in the characteristic symptoms, which include:

  • Cardiomyopathy
  • Learning disabilities
  • Hypotonia
  • Skeletal myopathy
  • Delayed development of motor skills
  • High levels of 3-methylglutaconic acid in the blood and urine
  • Weakness of the facial muscles
  • Neutropenia
    • This makes affected individuals prone to infection

There is no cure for this condition; treatment is symptomatic. Doctors will focus on preventing heart failure, which may require a heart transplant.

Alexander’s Story

Alexander’s parents knew that their son had a heightened chance of being born with Barth syndrome as his older brother Elias was affected by the condition. Sadly, Elias passed away in the summer of 2018. Even though doctors told his parents, Elizabeth and Nickolas, that their youngest had a minuscule chance of having Barth syndrome, they opted for prenatal testing anyways. They were heartbroken upon hearing the news.

While they were devastated, they knew that Alexander would have the best possible treatment from the second he was born, something that wasn’t possible for Elias. For the first year of his life, the therapy seemed to be working. He met all of the normal developmental milestones for a toddler, and the family worked very closely with all of his doctors. Unfortunately, his health began to deteriorate, and he was placed on the heart transplant list.

After noticing that Alexander was acting strangely and taking him to the hospital, doctors informed the family that his heart was operating at only four percent capacity. They had to take immediate action and placed him in a medical coma. In a Melbourne hospital, doctors implanted a Berlin heart. This device is given to patients with end-stage heart failure.

The entire family is anxiously awaiting to hear when Alexander can receive his heart. In the meantime, you can help them by donating to their fundraiser.

Find the source article here.

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