India mom AADC gene therapy experience

Mom from India Shares Her AADC Gene Therapy Experience

We meet many parents, relatively speaking of course, in the AADC deficiency community. We are all supportive and helpful towards each other. However, at the same time, each of us are also fighting our own battles.

We had the opportunity to speak with Ms. Raja Nandhini from Chennai, India, to learn about her fight. Her son, Adhiroop, recently underwent gene therapy in Israel. Her journey is a story of determination with a sprinkling of fate. This is a common theme that underpins each parent perspective we share.

Ms. Raja & Family

Ms. Raja posses with her two sons; Adi is the youngest and has AADC deficiency.

Ms. Raja's story

Ms. Raja is from Chennai, India. Chennai is located on the southeastern coast of India along the Bay of Bengal in eastern India. It is the capital city in the state. It is a vibrant city of spirituality, colors, and wonderful people.

Ms. Raja has two sons. Her youngest son suffers from the rare disease known as aromatic l-amino decarboxylase (AADC) deficiency. As many parents in the rare disease community have said before, this was beyond a surprise to learn the she was a carrier for this gene. Thankfully, Ms. Raja also has her mom who she refers to as her backbone.

Colorful Temples of Chennai India
One of the many colorful temples located in Chennai India. One was built as a dedication to the Hindu deity Shiva. Shiva is one of the major dieties in the Hinduism and is the protector and transformer of the universe.

The journey begins

When Ms. Raja’s second son, known affectionately as Adhi, was a few months old she became concerned. Her son was not interacting or meeting developmental milestones like her first son. She tried to dismiss these fears and told herself that Adhi was just progressing differently. 

She suppressed other red flags and concerns, such as her son having severe diarrhea, always looking sleepy, and not sucking his thumb. Each time she told herself that Adhi was fine and that she was being paranoid. However, once the Oculogyric Crisis, also known as OGC, began; she could no longer dismiss what she knew to be true deep in her heart.

Doctors could not give her an answer. They prescribed medications and tried to give advice. Ms. Raja was not convinced. She was persistent and willed to get doctors to listen to her.

Eventually, a genetic test confirmed her suspicions that not all was right. However, she was in disbelief to learn her son had one of the rarest of rare diseases.

Ms. Raja immediately set out to learn all should could about this rare disease. Her doctors did not have much in the way of support. One doctor couldn’t even remember the name. Instead she took the initiative to be the researcher by reading research papers online. She also joined groups and connected with other parents around the world.

Dear future AADC families, you can get through this. This disease is not incurable. Every child is unique and you will learn to know your child's strengths and weaknesses. The cure comes from the love and determination of the parent. Then, nothing is impossible!

The discovery of gene therapy

Medications gave some relief to her son, but Ms. Raja was determined to give more. She learned of a treatment called gene therapy. She began emailing doctors, trying to get her son the therapy.

Her doctor said that it would be impossible to enroll in a clinical trial internationally, and any normal person would agree. But not Raja. She knew that with the love, determination, and faith of a mother, nothing is impossible.

The journey was one of pain, suffering, and hell. Thankfully Raja’s mother stood by her side and encouraged her to continue on.

Ms. Raja sent countless emails. For every rejection letter she received, she would send two more back, pleading for help. Finally, a glimmer of hope arrived when she learned that Texas Children’s Hospital had a spot open, and Adhi could have gene therapy if she could travel to Houston.

That was a big if. Ms. Raja did her best to try and get the visa. However, without family in America, financial support, or a bona fide place of residence, her visa was not approved. It seemed like fate was laughing at her when the day after receiving the rejection letter, she was approved to stay at Ronald McDonald House free of charge. It was too late, her visa was already denied. By the time she restarted the process, the spot in Texas would already be filled.

Ms. Raja recounts this as the “darkest moment” in her life. Yet quitting was not an option. If anything, her motivation intensified. She sought treatment in Israel, where a new clinical trial location had recently opened. 

Adhi's Rebirth

The day a child receives gene therapy is known as their rebirth day because they are given a new chance on life.

Her determination answers her prayers

Her past experience and mistakes made this application process much more efficient. Adhi was given the slot, accommodation was arranged, and her visa came in without issues. She also was provided some physiotherapy sessions post-gene therapy.

Adhi was admitted for surgery, and 9-hours later, he became the first person treated with gene therapy in Israel.

The journey is not over for Ms. Raja or Adhi. Gene therapy gave their family an opportunity for a new life. Ms. Raja will need to continue her same determination to support Adhi in closing developmental milestones that were impossible.

The Medical Team in Israel

In Israel, the gene therapy surgery was conducted by Dr. Zion Zibly, director of the Department of Neurosurgery at the Sheba Medical Center and Dr. Lior Ungar, a senior neurosurgeon in the department. Dr. Bruria Gidoni-Ben-Zeev, head of the Pediatric Neurology Department at the Edmond and Lily Safra Children's Hospital, oversaw all the treatments, and the follow-up and medical care.

Current progress after gene therapy

Ms. Raja will complete the clinical trial in Israel soon. Then, with her son, Ms. Raja will rejoin with her husband Senthil to start a new life for their family in India. With the support of her mother, Ms. Raja works hard to provide the best life she can. A small contribution to her crowd funding page would make a drastic difference in her life and their family.

The medical expenses are huge and we can’t meet out the entire medical expenses. This is from the bottom of the heart, I am requesting everyone to kindly donate as it will help my son to gain an entirely new life.

AADC deficiency gene therapy experience

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