It was a sunny Friday afternoon in California. I was on the hook to take my 9-month old daughter to the Stanford Hospital, a 30-minute drive from our house, to see an eye specialist. I returned home from work, packed her diaper bag, and drove to the hospital for her 4 pm appointment. I had imagined this to be quick, and had therefore asked my sister to meet for a cup of tea later.
But, things didn't go as anticipated once we got there. There were multiple attempts to put the infant on a machine meant for adults to examine her eyes, followed by a long wait as the doctor went away to take care of something. I didn’t realise she had gone to get a second opinion to ensure her diagnosis was accurate. Finally, after 20 minutes or so, when the doctor came back, she started asking questions, which seemed odd then — “What is your profession?”, “What does your husband do?”, “Is your job computer-related?” And then finally she blurted it out: “We have spotted a spot at the back of her eye, and it could mean she has a genetic disorder. It is called GM1 Gangliosidosis, and I don't want you to Google it yet, until we confirm it with a genetic test.”
It felt like she was talking to someone else for it sounded wrong. I got up calmly, strapped my daughter to the stroller, stepped out of the room, and called my husband. By the time I had reached the car, he had Googled multiple sites. He kept confirming if I had heard it right. The reality of the diagnosis shook us to the core. Everything changed for us that very moment.
A few weeks later, we were at the genetic counsellor's office for the test results. They had asked us to bring the family. My sisters showed up; they were the only family we had in the Bay area. I was in denial, and had told everyone that there was some mistake. After all, I prayed every day, our families were healthy, and we were not consanguineous parents, one of the many reasons cited for such incidents to occur.
“The test confirms your daughter’s diagnosis, she has an extremely rare lysosomal disorder, GM1, the infantile version. The life expectancy is up to 18 months, and there is no cure. You will have to manage the progression,” a young doctor informed us. I still could not believe it. None of it made sense. All I could think of was this wasn’t supposed to happen, we were not supposed to pass this on to her. I blamed us.
“GM1 Gangliosidosis is a type of neurosomatic lysosomal storage disorder (LSD) and makes up 5% of the distribution of various LSDs among children in India. The infantile version is the most common form. There is no ethnic predilection globally or in India, but it can be seen more in consanguineous parents,” states Ahmedabad-based Dr Jayesh Sheth, chairman, Foundation For Research in Genetics and Endocrinology (FRIGE) (source: Lancet Regional Health -South East Asia, 2022)
We did a lot of research, made multiple phone calls to genetic specialists to make some sense of this situation, and see if we could even save her. The responses left us hopeless.
The estimated incidence of GM1 Gangliosidosisis is between 1 in 100,000 and 1 in 200,000 newborns in the world. The rarity of this disorder, and our daughter acquiring it, was unbelievable to us. The fact that it needed a gene copy from both parents for this form to become dominant in the offspring was gut wrenching. There was a 25% chance of recurring, if we decided to have more children. The future looked quite bleak.
After many months of living in denial, I accepted the reality. Things started adding up post-diagnosis, especially her struggle with eating and sitting up, and holding her neck up, and the blackish-blue spots on her back, which we assumed to be birthmarks. We realised the only choice was to surrender to this reality, and make the most of the time we had with her. All my frustrations of her not eating well disappeared. I didn’t get upset over anything she did. I just watched her, closely, intently, and captured every moment in my brain so I could replay it after she was gone.
We celebrated every occasion knowing she won’t make it the next year. I took as many photos of her as I could only to be able to reminisce about motherhood, and those fleeting moments with her after her passing.
The early signs of infantile GMI includes loss of developmental milestones, and psychomotor skills, those that require hand-eye coordination between four and six months of age and appearance of black spots called Mongolian spots in the back region, states Dr. Jayesh Sheth.
A team of doctors were assigned to manage the progression of the disease. Eventually we had to let go of her nanny, and replace her with a home nurse as her condition progressed, and later hospice care. While we had help, we were the primary caregivers, and the journey was physically, and mentally challenging. It was isolating and lonely.
My husband and I were dealing with the situation differently. I needed help desperately. I was overwhelmed. But seeking help was not on top of my mind in this crisis; adjusting to this new reality without losing a grip on self was. But then I was struggling to keep my sanity while managing work, home, a baby, and marriage and my fluctuating emotions. I needed a safe place to be vulnerable, express my fears, guilt, and helplessness, among many things that I was feeling at that time, without being judged.
“Caregivers, especially mothers, don't want to be judged or seen as selfish. There’s fear of being judged by family, friends, and employees. Many start seeking help, but don’t continue due to this fear,” says Mumbai-based Dr Neeta Mhatre Mishra, founder, ReachOut, and co-founder, Bloom, that works with caregivers.
After a lot of contemplation, I seeked therapy. Seeking help was one of the best decisions I had made. It helped me show up for my daughter better.
She fought till the end. As we watched her tiny frame go through challenges, we didn’t want it to prolong, at the same time we were not ready to let her go. It was a chilly January night when she passed away in my arms surrounded by the people who loved her. Five years have gone by, and I can still feel her around me. Being her mother, even for a wee bit, completed me.
Shilpa Banerjee is a Pune-based tech professional and an independent writer, who is passionate about raising awareness around genetic disorders. She started her writing journey on the Instagram account @theworldoftheia