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Dear MitoCanada Community Members

Hello!

My name is Hala Abass. I am a founding member of the MENA Organization for Rare Diseases in the United Arab Emirates. I had two young boys who suffered from Mitochondrial Cytopathy affecting complex (IV) respiratory chain enzymes. Both my boys have passed away.

Initially, we had biochemical investigations and cultured fibroblasts in both children. The final results showed slightly reduced activity in complex IV in the fibroblasts, caused by a homozygous mutation in the Mitochondrial Poly (A) Polymerase (MTPAP) gene. In addition, the boys were diagnosed with Autosomal Recessive Spastic Ataxia level 4. Symptoms of this gene mutation began in early childhood with progressive cerebellar ataxia, spastic paraparesis, epilepsy and speech difficulties.

In 2005, the disease appeared in my eldest son then in 2010, the disease appeared in my second son.The doctors linked the events together, and in 2014, tests and research began, followed by the results that gradually clarified everything and provided us with a diagnosis.

The doctors explained everything related to the gene mutation responsible. We were told that mitochondrial disorders are among the rarest diseases and no cure exists.

The first step after the shock was accepting the diagnosis. The second was searching for ways to treat the disorder, providing complete care at home and focusing on the boy’s remaining skills and functions that needed greater support, such as physical, occupational and speech therapy, appropriate medications, and appropriate food.

The boys received their annual flu vaccines, supplements, and nutrition-based formulas containing protein to support their muscles.

My eldest son passed away in 2018, and recently I lost my youngest in 2024. It has been a long journey managing and caring for my sons and their illnesses, especially when they were admitted to the hospital. Each was hospitalized for months, suffered from long symptoms, and then discharged with difficulties like weakness in muscles, tracheotomy, epilepsy, exhaustion, feeding through a nose tube, pumping chest, bedsores, oxygen concentrator machine, nebulizer, a new heart medication, multivitamins, and supplements for seizures.

Their little bodies had to manage so much. They were little heroes, so strong and brave, but their mito was like a monster that didn’t give their bodies a chance to revive. So, they went in peace with no warning.

Every girl plans their ideal future, life with a house, a husband and children. I was blessed with two sons who were my hope and the loves of my life, but life becomes complicated when God Almighty decrees for you a path that you will take that is different from your dreams. I have realized that this is a test from God, and I must begin a new path.

My boys were my ambition and career; I sacrificed a lot for them. I learned from them what it means to have another chance in life; even when they had few remaining skills, they would try to live in good health despite medical difficulties and were seen as having much determination.

My experience with my children and my understanding of mitochondrial disorders and rare diseases motivated me to work with the MENA Organization for Rare Diseases. I will continue on my journey and help others and future generations manage and possibly diminish the suffering so many families have endured.

I believe all mitochondrial disorder patients deserve to live normal lives and inspire the community. That can only happen if we focus on vital medical research needed to help our future generations and bring genetic testing to the forefront of medical investigation.

It is incredibly important to spread awareness of the importance of genetic testing and genetic research, attend conferences, and listen to and learn from past or present experiences.

As a founding member of MENA and a patient advocate for rare diseases, I support people and families who face many difficulties because of the scarce knowledge about these conditions and the limited support available for them.