Dubai: A Dubai-based Egyptian couple, who have lost two newborns in two years, are now out to educate the world about the rarest of rare conditions that claimed their lives.
“We lost Mai three months ago, less than two years since Adam left us. The experience has taught us that superheroes aren’t your Marvel and DC characters, but rather the NICU babies like them out there. They fight, inspire and teach you that you should have hope when you might think you have lost it,” said Tarek Ahmad Fouad Sayed, programme director at a Sharjah investment authority, who along with his wife Aya Baker has spent the past two years in search of answers.
After a veritable ordeal battling the unknown, the couple said they were finally able to identify the cause of the deaths: a rare gene that they both carried.
“Mutation in the gene ATAD3A can only happen if both parents are carriers of the same gene and both of them have some of the genetic code deleted. So, what is the probability of this happening? 0.0094 per cent. Talk about luck,” said Sayed.
“We have officially not only joined six families in the world that have just that (Harel Yoon Syndrome) but, Mai and Adam have also helped the world discover a whole new mutation to this gene/syndrome. Both of them have done more impact than that of both of our families have ever cumulatively made over the past three decades, they left the world with so much valuable data that has just made the genetic field a lot more richer,” he added.
I had hundreds of questions that needed to be answered. It was the first death in the family that I had encountered.
Mutation in ATAD3A is said to cause a series of diseases such as delayed psychomotor development, intellectual disabilities, truncal hypotonia, spasitcity, peripheral neuropathy, congenital cataract, joint stiffness, difficulties in breathing and feeding and seizures - the links for which might not always be obvious.
Tarek and Aya, who are grateful that their first son Yousuf, now four, remained unaffected, said they felt a compelling need to share the rare discovery after they lost their second and third-borns. “No family should ever go through what we did, it was so difficult to keep a positive outlook at life, work and maintain a conducive and loving environment around Yousuf while we were going through this journey — but we have finally got some closure,” said Tarek.
Aya, a lawyer and fitness trainer, said when she delivered her second child Adam at 34 weeks on July 7, 2017, he was just 1.75kg. “He had to stay in the NICU as he was premature and needed a lot of support. Seeing other mums going home with their little babies while I had to leave alone was heart breaking. I didn’t even get the chance to hold or kiss my little baby, I was crying day and night while pumping my milk to take it as fast as I could to the hospital, so the nurse could feed him through a tube while I was reading a “superman” story for him. But he struggled with the feeding.”
She said a week later, she received a phone call from the NICU doctor saying that Adam had an infection. “Doctors said they would have to operate on him as his intestinal infection just got worse. He began to bleed and suffered a total organ failure. He left us on July 23.”
Aya said saying goodbye to her newborn was hard. “I was angry. I had enough anger to destroy the whole world in a second, I had hundreds of questions that needed to be answered. It was the first death in the family that I had encountered. I couldn’t even hold Adam as I was shaking so badly. I apologised to him for not being able to save him.”
She said as she grappled to deal with her circumstances, she was convinced she needed to get to the bottom of her son’s death. “I read and re-read his death report. I googled everything about the symptoms he had — from the initial cataract in his eyes, stiffness in his joints, abnormalities in his feet and hands to the intestinal infection that struck him in the end. I spoke to doctors, experts and other bereaved mums, but I got nowhere. Doctors said it was just bad luck and it would never happen again, and that I already had a healthy boy with no history of any genetic condition.”
But they couldn’t have been farther from the truth.
Aya, who got pregnant again nine months later, said her worst fears came true when doctors told her after a 20-week scan that the little girl she was carrying looked fine although she was very small. “Call it a mother’s gut feeling, but I knew something was wrong with Mai as I had already named my angel.”
As the pregnancy advanced, it was almost as if Aya was directing the doctors to ascertain if Mai was showing the same signs as Adam. “At seven months, when they confirmed she too had a cataract in her eyes, I knew it was no coincidence. It had to be a genetic problem. I didn’t want Mai to undergo what Adam did and even contemplated an end to my pregnancy. But I knew I couldn’t live with the guilt of doing that, which doesn’t mean it’s a wrong decision. Some super brave parents go through this but I had to choose what was best for me and what I could live with. So I began to prepare myself to deliver and raise a special needs child.”
The sense of acceptance made things easier for Aya and her husband when Mai arrived at 38 weeks. “My rainbow baby weighed 1.56kg, Her hands too were clinched like Adam’s and her feet were just as abnormal. But strangely, I was more in control of the situation,” said Aya.
A battery of genetic tests followed as she continued to stay in the NICU. At two months, Mai contracted an infection. “As her condition worsened, I kept noting the symptoms – she developed dandy walker malformation, seizures, edema. But I vowed to myself I would do everything to find out the root cause and save my family. I would do it for Yousuf. I got the genetic sequencing test repeated in Germany after sending a detailed medical report. I also got a blood sample extracted for future genetic testing. And saved it in a bank.”
On March 8, 2019, Mai breathed her last. “I took her in my arms, this time with no anger. I kissed her and said I was proud of her. I asked her to take care of Adam.”
After 45 days of Mai’s passing away, her parents received the results of the genetic test.
“Adam and Mai had come into this world for a purpose and we cannot be more proud of them. Parents going through struggles like ours need tremendous support.”
AT A GLANCE
What is harel-yoon Syndrome?
A syndromic neurodevelopmental disorder also known as hayos, which is caused by an inherited mutation in the ATAD3A gene.
It can be characterised by delayed psychomotor development, intellectual disability, truncal hypotonia (reduced muscle strength), spasticity (contracted and stiff muscles), and peripheral neuropathy (nerve damage). Other more variable features such as optic atrophy (eye nerve damage) and hypertrophic cardiomyopathy (heart disease) may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (lack of energy).
Special Mums with Special Life
Starting July 1, Aya Baker will be launching the Special Mums with Special Life forum on Facebook and Youtube where she will interview mums with special needs kids to talk about their emotional journey. “I believe that no mum has to go through this alone, and its important to spread awareness, kindness and acceptance among all mums. Let’s be loud as we need to be heard.”