Hey guys!! Welcome, welcome. We hope you read our previous article on CAH and thus have a better understanding of what Congenital Adrenal Hyperplasia is. For today’s article, we are going to be sharing a parent’s journey with CAH. To maintain the confidentiality of the people mentioned in the article we have used pseudonyms in place of their actual names.
Into the tunnel
On the 5th of February 2017 in Harare, Zimbabwe, Mai Noku prepared to deliver her third child- Nokutenda. The expectant mother was excited to bring in new life into the world. Immediately after her successful delivery, she noticed the nurses and doctors’ reactions - having had 2 previous miscarriages - she assumed the worst. She was handed her child for a moment before the nurse took the baby from her and told the mother that her baby had ambiguous genitalia. For two weeks, mother and child were separated as her husband canvassed for private laboratories in order to do investigations that would determine the sex of her child.
Mai Noku’s child was declared to be a girl. "However, her relief was short-lived as her family’s life would now be marred by: frequent hospital visits, social ostracism, depression and witchcraft allegations."
With the lack of medical specialists in Zimbabwe, her husband became well acquainted with the entire medical fraternity in Zimbabwe as he searched for a specialist to determine the cause of Nokutenda’s ambiguous genitalia. Fortunately, they were referred to a specialist endocrinology paediatrician and upon physical examination, she made the diagnosis of Congenital Adrenal Hyperplasia, CAH. As we discussed in our previous article, CAH is a rare condition that encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both.
Aside from trying to understand the perplexing technical jargon surrounding the diagnosis, Mai Nokutenda had to deal with social ostracisation as word spread of her daughter's ailment; and her community - both adults and children - recoiled from her and her baby, who was different from other children. The worst episode that affected her mental health was inflicted by her family members, who took pictures of her daughter and circulated them on social media. She felt betrayed and resorted to isolating herself and her child. In a patriarchal African society, women are often blamed for their children’s misfortunes and whispers of Mai Nokutenda being a witch were carried by the wind to all her family members. She was declared persona non-grata by her own relatives and in-laws as they shunned her for fear of her daughter's condition being contagious. Without social or family support, suicidal thoughts soon consumed her mind.
The descent
Her mental decline was exacerbated by the growing financial strain on her family as medical bills piled up, and expensive laboratory tests had to be performed in neighbouring South Africa. It was discovered that Noku had Classical non salt-losing virilizing CAH after laboratory test results came back positive for a deficiency in the enzyme 21-hydroxylase. Classical CAH is by far the most severe form of CAH and can result in adrenal crisis and death if not detected and treated immediately. The thoughts of an unexpected adrenal crisis ending her daughter's life at any moment became Mai Noku’s greatest concern, leaving her in a constant state of anxiety. Noku was eventually prescribed Hydrocortisone, a lifelong hormone replacement therapy, that could only be dispensed from a single pharmacy in Zimbabwe. Being a housewife, Mai Noku had to take on extra jobs to make ends meet. At the same time, Noku was preparing for reconstructive surgery for the ambiguous genitalia. Fortunately, her daughter’s surgery was a success albeit at a steep cost to the struggling couple.
Light
To escape from her sea of self-pity, Mai Noku took the initiative to meet other parents with children suffering from CAH and the group shared their struggles. She remains grateful for her husband who stuck by her side amidst their tumultuous journey as, in other families, the same diagnosis had led to the husband abandoning his family. Additionally, She remains grateful for the paediatrician who has continued to support her and explain the condition despite the technical language barrier. 5 years later, Mai Noku is the leader of the very first CAH support group that was launched earlier this year by Child Youth Care Zimbabwe, an organization that focuses on improving the quality of life of families living with rare diseases. In partnership with international donor organisations, CYC avails free treatment for CAH, which Mai Noku is thankful. As Noku continues to grow, her dosage will double and so will the expenses but Mai Noku remains hopeful. With the worst behind her, Mai Noku now wishes for her daughter to become a paediatrician, who will assist other children who face the same challenges as she did.
Now that we have a better understanding of CAH and how it not only affects the patients but their families and friends we can make a commitment to changing the stigma. This is a lifelong condition therefore it needs lifelong support and advocacy. Facing a condition like CAH can take a mental, psychological and financial toll on both the patients and their families. In Zimbabwe on 28 June 2022 the first CAH support group was launched.
If you or anyone you know has been affected by this condition contact Child and Youth Care Zimbabwe at 0777510370 or visit Sally Mugabe hospital.Remember:
See you in our next article...
From your RareZim Medics
Tariro