New DBHD Treatment has Siblings Standing Tall

Imagine if every time you stood up your world would start spinning, your vision would blur, and you’d faint or fall down. Prolonged exercise is out of the question. Extreme fatigue is routine. Long before an official diagnosis of dopamine beta-hydroxylase deficiency (DBHD) was offered, these were the everyday challenges of a California brother and sister, as reported by CNN.
DBHD is identified by increased amounts of dopamine and the absence of norepinephrine (NE) and epinephrine.

People with DBHD don’t have enough of the dopamine beta-hydroxylase enzyme. The missing enzyme affects how the body controls blood pressure and body temperature.

Nearly everyone has felt that weird, swishy feeling caused by a head rush. Sometimes it causes black spots in your vision. Oftentimes, the feeling is a result of turning around or standing up too quickly. It typically signals a drop in blood pressure. These siblings experienced that off-balance feeling every hour of every day.

For Megan and her brother, Brendan, the symptoms started revealing themselves early in childhood. Both children would faint every time they stood for more than two minutes. For Megan, the events seemed worse when she’d been lying down for an extended amount of time—mornings were particularly difficult.

Over the years, doctors tested for and dismissed diagnoses of diabetes, epilepsy, cancer, liver and kidney failure. As a rare disease, symptoms may include vomiting, dehydration, difficulty keeping steady body temperatures, low blood pressure, and low blood sugar. As people with DBHD have problems maintaining normal blood pressure, they also struggle with extreme tiredness after any type of exercising.

As children, Megan and Brandon learned to manage the dizzy spells, as best they could—by stopping on stair landings to reorient until the world stopped spinning. For sports, Megan would bat during softball games, but someone else would run the bases.

They pushed through until a doctor diagnosed Brendan with DBHD. The doctor prescribed Droxidopa (or L-DOPS) a medication being used for another movement disorder. Brendan responded positively in two days. After two years of positive results, he celebrated by doing something that would have been impossible years before—he ran across the Golden Gate Bridge. Megan was there to bear witness.

Three years later, Megan experienced similar results with L-DOPS. Since then, she has trained and completed a number of marathons and one triathlon but remains grateful to simply walk upright on the steep hills that surround her San Francisco home.

To read more about their journey, click here.

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