As many of you know, Rare Disease Day 2022 is coming up at the end of the month. Celebrated on February 28, Rare Disease Day aims to raise awareness and support for the over 300 million people worldwide living with a rare disease. This year, reports Benoni City Times, 9-year-old Somai Venter is excited to join in and participate. That’s because Somai has hypohidrotic ectodermal dysplasia with immune deficiency, and she and her family hope to help spread awareness. 

Somai’s Story

Somai was born prematurely. At the time of birth, her mother Madelein and father Pieter share, Somai only weighed 908g (approximately 2 pounds). As she grew older, her parents noticed a number of other potential health issues. For example, Somai would frequently have intense, severe fevers – some within the range of 106-109 degrees. 

It took about three years (and many visits to medical professionals) before Somai was finally diagnosed with her condition: hypohidrotic ectodermal dysplasia. In fact, it took a trip to a specialist. When she was diagnosed, Somai was only the 8th known person in her country with this condition.  

Outside of being unable to sweat or regulate her core temperature, Somai is also immunocompromised. In around 13 years, she will require tooth implants and a jaw replacement surgery. 

But Somai is not letting hypohidrotic ectodermal dysplasia get in her way. She and her family have learned more about the condition through Rare Diseases South Africa and also work to raise awareness on a local level. For example, Somai and her friends will wear blue for Rare Disease Day. They will also be collecting and distributing toys to children in the hospital. 

Admittedly, there are still many obstacles in the future – including treatment plans, the jaw replacement, and finding more local support. However, Somai only looks to the future with hope and excitement: “I am rare and proud of it.” 

About Ectodermal Dysplasia

Altogether, “ectodermal dysplasia” encompasses a group of rare inherited disorders which occur when at least 2+ ectodermally-derived structures (hair, skin, nails, teeth, sweat glands, mucous membranes) develop abnormally. The structure group, EDA/NF KappaB pathway, WNT pathway, and TP63 pathway have all been linked to ectodermal dysplasia. However, the cause of some forms of ectodermal dysplasia is still unknown. There are around 100 ectodermal dysplasias. 

As explained above, Somai has hypohidrotic ectodermal dysplasia. EDA, EDAR, or EDARADD gene mutations cause this form. Symptoms and characteristics include:

• Partial or complete absence of sweat glands
• Heat intolerance
• Fever
• Little to no sweating
• Hypotrichosis (abnormally sparse hair)
• Absent or malformed teeth 
• A prominent forehead, sunken nasal bridge, large chin, and thick lips
• Thin, dry, and soft skin
• Skin hypopigmentation, with hyperpigmentation around the eyes 
• Frequent infections

Learn more about ectodermal dysplasia.