Flying to Santo Domingo with My Niece Isabel –My Little Ebony Princess

Marta Heredia is a Long-Haul Flight Attendant. Her niece Isabel has NBIA, a disease suffered by 62 children in Spain and about 300 in a village in the Dominican Republic.

“I could tell you hundreds of stories, because I am a flight attendant with Iberia, a company that joins people of all cultures and carries their dreams. I have been flying for 35 years and working on overseas flights for the past 20. 

But today, I want to tell you a very personal story that touched my heart.

A few days ago, part of my family flew to Santo Domingo, and Iberia gave me the chance to experience something quite unique. I wanted to surprise my little 15-year-old niece, Isabel Heredia. I will never forget how her face lit up when she came aboard that A330-200 and saw me in uniform in the aisle. I gave her a big hug, and helped her to her seat in the centre of row 50, next to my sister-in-law Yesenia Andrea Valle, the research biochemist José Antonio Sánchez Alcázar, and the president of the ENACH [Spanish acronym for NBIA] Association, Antonio López Galán.

My niece is a young woman of 15 who had been outstanding at sports since she was small. But ,at the age of 11, this healthy, athletic girl started bumping into things and falling down –something was obviously wrong. She was diagnosed with an extremely rare disease called NBIA –Neurodegenerative Brain Iron Accumulation disorder—an inherited genetic disorder that does not appear at birth, but when childhood is well advanced.

But, she never lost her smile. When she falls, she gets up again, and her eyes show a light so bright and so sweet that it warms your heart to see it.

She had to leave her school and start attending a hospital school for special needs children in Madrid’s Aravaca neighbourhood. She was happy there, but when she was 12, local medical authorities placed her in a regular school with a physical therapist and special facilities for children with mobility and speech problems.

Now she is a blooming teenager. She regrets having lost some abilities, and at her school, people understand that she sometimes has trouble controlling her impulses, because of the iron in the basal ganglia. Health professionals at her school make sure she gets all the support she needs, and the other children are taught that we cannot all be the same, but we can all show respect and love to everyone.

Of course, she suffers, and she gets angry with the world. She does not understand why life has been so unfair to her. But, I have never seen her looking sad. And I have never seen such a lovely smile. Do you know my nickname for her? “My little ebony princess!” 

She would stay with her mother’s side of the family in Santo Domingo, where lots of her relatives were coming from different places in the United States to spend a few wonderful days with her.

This is also the story of Yesenia, my sister-in-law, Isabel’s mother, whose courage I admire so much. She is an enterprising woman who now serves on the board of the ENACH Association in Spain.

Four years ago, Yesenia went into action, visiting every hospital in Madrid. The outlook was very bleak. They said “Enjoy your daughter, spend time with her, and buy yourself a car, because soon she won’t be able to walk”. Yesenia did not want to believe this initial diagnosis, and she continued to investigate. 

Everything we found on the Internet about the disease was devastating. So, we started looking for doctors all over the world. We mobilised her relatives in the US, and ours in Spain. We learned what we could about the brain and the cells that were affected, and we spoke to everyone we could find who was working on the issue of iron accumulation. We talked to people in Oregon, in Oakland, in London, in Oxford... But, it was in Spain where Yesenia found Dr. Sánchez Alcázar, at the Biology Centre of Andalusia, who said: “Don’t worry. There’s a solution for this”. Finding him felt like a miracle –we were suddenly filled with a sense of peace and of hope. At last, a ray of light in so much darkness and suffering! 

This biochemist, the lead researcher in the “Braincure” project at the University of Pablo Olavide in Seville, was already working with the ENACH Association, and he put Yesenia in touch with Antonio López Galán, the combative president of the association of parents of children suffering from this terrible genetic neurodegenerative disease, of which 62 cases are registered in Spain.

Isabel was the first patient in the world to undergo enzyme replacement therapy for her condition, which is caused by a mutation in gene PAKN2 that breaks the metabolic chain. Both my brother and Yesenia are carriers of the defective gene. Following her personalised treatment by the Braincure research team, Isabel has recovered some of the motor functions that she had lost. She can walk again, she can study, and we are hoping that she will gradually recover her speech.
 
Our research detected a village in the Dominican Republic with more than 300 cases of NBIA, no doubt due to inbreeding. 

After the dramatic improvement to Isabel, her mother resolved to act as a link between Spain and her native Santo Domingo, to publicise the research, the pathophysiology of the affected cells, and the new therapeutical strategies.

For 12 days Isabel, her mother, Dr. Sánchez Alcázar, and López Galán of the ENACH Association talked to researchers  in universities,  met with neurologists at hospitals and also with NBIA patients and their parents in the Dominican Republic, so they could pass along the ray of light, of hope, that one day they may smile again, like my little ebony princess.”