Living with Gitelman Syndrome

“ Not a one person battle”

As a teenager, I found my brother on the floor having an episode of tetany on several occasions. My role then included creating a safe environment where he won’t hurt himself from the movements, holding his hands primarily in between mine, and performing a softening massage. All at the same time, cry together until the symptoms eventually disappear. These episodes were not only affecting him but everyone around him.

In a third-world country like the Dominican Republic, it is not unusual that a rare disorder will go underdiagnosed or misdiagnosed. Due to this, it is difficult to differentiate between diseases or other health conditions. Living in such a way means being especially patient in finding the right doctor who will diagnose you correctly. After many studies and labs performed as requested by several doctors, my brother was diagnosed with Gitelman Syndrome. At this point, with this rare disease, as a family, we worried anxiously about what to do and how to handle it from here on out.

What did this mean for my brother? How will his life change? How would our lives change? What limits does this impose on my brother?

Gitelman syndrome, also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder in which there is a specific defect in kidney function. As a result, electrolyte imbalances can occur due to the lack of ability of the kidney to reabsorb salt (NaCl). Gitelman syndrome can become apparent anywhere from late childhood to early adulthood. Affected individuals can be asymptomatic, while others can develop chronic issues that can impact their quality of life. These symptoms include muscle weakness, spasms, cramps, or even a specific form of cramping called tetany characterized by cramping spasms of particular muscles, those of the hands and feet, arm, legs, or face.

My brother may not be able to do the same activities he used to do before his diagnosis. This is especially true for those activities that result in perspiration, such as exercise, hiking, and other sports. However, both he and my family are well aware of the symptoms and how to avoid these episodes as much as possible.

Gitelman Syndrome Quick Facts:

• No cure.
• With this rare genetic disease, asymptomatic individuals may not require treatment intervention, but it is still recommended that they receive monitoring once or twice a year.
• All individuals need to have a high-sodium chloride diet.
• Treatment usually involves supplemental potassium and magnesium.
• These patients should never be treated with ACE-i or ARB due to relative HYPOtension.

Best,

Sherley

Sherley Bencosme,BS : Bencosmes@husson.edu