Asking “why?” is a very normal part of any grief journey. We want answers, something to blame, we feel the need to reason our lot. I very clearly remember the anguished whirlwind in side of me of “why?” questions that I had over a 4 month period, about one year ago. “Why, what could be the cause?” “Why me?” “Why them?” “Why Eden too?” With time and acceptance the questioning voice of “why” became silent. The cause for their deafness is almost always the first thing that I am asked when someone engages with me about my girls.
“Do you know why they are deaf?”
“Since it’s all 3 of them, it must be genetic,” is my usual answer realizing that it’s human nature to want answers.
As a doctor who has mostly worked with paediatrics, I have often referred families for genetic counseling if they have had a baby with a genetically based syndrome. Generally, people want to know why this has happened and they also want to know what the odds are of them having further children with the same syndrome. As a doctor, I’ve not often questioned what genetic counseling entails, or what other questions or issues that pursuing the “why?” questions may involve. We take your baby’s blood, you visit the geneticist several times, and eventually, have a diagnosis.
When we found out that Eden is deaf, a professional suggested that we see a specialist geneticist in Johannesburg. Life was too chaotic to pursue anything further at that time, but at the beginning of this year, I found myself curious. It was no longer grief’s nagging question of “why me?” but rather a genuine science-based interest to see what funky differences were happening at a genetic level. Since deafness is not really evident in our family, I was simply curious. After long discussions with Graeme dissecting and scrutinizing our motives behind wanting to investigate further, we decided that going for testing would simply serve to feed our curiosity and also give us insight to the experience that we have often referred our patients for. An appointment was made with a genetics professor in Johannesburg, and we decided that I’d just take the twins to start off with.
A very friendly genetics professor welcomed us into her office. She was down to earth, yet professional, kind and also intrigued by our ‘different’ family. She engaged with me on a collegial level, and went through a long list of possibilities. After refreshing my knowledge of genetics, we both agreed that the most probable cause would be that of an autosomal recessive inheritance of a ‘faulty’ gene responsible for deafness. That meaning that I carry the gene and Graeme carries the gene, but because it is recessive, neither of us is deaf. The girls probably inherited the ‘faulty’ gene from each of us, resulting in their deafness. At the time, I was hoping that we could isolate the particular genetic pattern, to see if one could predict possible future progression based on what is known about certain types of inherited deafness. With that thought in mind, we decided to take just one of the girls’ bloods to be tested assuming that they all have the same genetic cause. The professor went on to explain that if round one of blood tests did not yield any answers, that we could embark on round two. This would be very expensive and serve as an assisted measure should we be considering having more children. I probed further for an explanation. Somewhat hesitantly, she proceeded to explain that if they could isolate the exact genetic fault, which the expensive tests could do, and that if we were to want another baby, we could opt for IVF. The embryos that tested positive for this faulty gene would be discarded, and only the embryos with “normal” genes would be implanted. Alternatively, one could conceive naturally, test the embryo for the faulty gene and opt to abort it should it also be carrying the gene for deafness. Stunned by hearing these possibilities out loud, I glanced across to the toy area where Hadassah and Tahlita were playing. Tahlita was caressing a tatty teddy bear whilst her sister was interacting with the little wooden family members that belonged to the hand-painted doll’s house. Their beautiful golden curls were bouncing joyfully as they played, their little bright eyes filled with life as their sweet wrinkled noses added expression to their communication. They epitomize perfection. The thought of assigning lesser worth to them because of their hearing loss made me instantly nauseous. I explained to the professor that those options would never be a consideration for our family, but that simply due to curiosity, we’d like to proceed with round one of testing.
After 7 months, I received an email stating that round one was unsuccessful in isolating the responsible gene, but that the offer was still open to pursue round two. Our curiosity would simply not justify the expense involved to do this, and as far us having more babies goes…I think I’m about ready to start embracing a full night’s sleep in the near future.
This genetics testing experience has made me reflect on the value of life and the uniqueness of my precious three. Our worth does not come from our ability to see, hear, touch, taste or smell. Our worth is not written in our genes or even dependent on our ‘usefulness’ to society. How we look, our talents, our preferences or dislikes does not assign a single notch of worth to any of us. We are worth more than money could ever buy or the most eloquent of words could ever express. Our worth lies in our uniqueness, the fact that no one else could ever be like us. We were woven together for a purpose, reflecting a facet of a perfect, creative, wondrous Creator. This gives each and every one of us our worth.
As for my girls, may they know that they are enough, just the way that they are. May they like themselves and embrace their uniqueness. May their identity and worth not hinge upon their deafness, but rather be rooted in knowing that they were designed for a purpose. May they know that we embrace them just the way that they are, and that we celebrate every aspect of them. May they never believe that any part of them is ‘faulty’ but rather gain a deep understanding that the One who designed each of them, did so with purpose – wonderful, exciting, joyous purpose! May every cell of their being recognize that every gene that that determines their unique make up has inscribed, “Fearfully and wonderfully made.”