The Reason Behind Genetic Testing – Is it even necessary?

I got asked this question few weeks back after spending close to $10,000 on the genetic tests alone. It was so expensive but I still make the decision to do it. It was so difficult to explain why, and all I could reply was, “Yes.” There was so much drama behind this simple decision which was quite mentally draining!

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For many years, there are questions which my family always try to give an answer but I was not satisfied.

Why am I different? Why am I born this way?
Why do I have to wear hearing aids? Why am I born deaf?
Why do I have night blindness? Am I losing my vision?

Human nature can be ugly sometimes. From young, I got teased and taunted mercilessly by some classmates and even teachers whom I still remember up to this day, because I cannot talk well and I was often called “stupid” and “deaf”. When I was fourteen, someone thoughtlessly told me this. “If you have a hearing problem, your children will be deaf too.” The question hit me like an invisible arrow tearing my heart open. I always wondered about this but have never talk to anyone about it.

At nineteen, I realised my vision started worsening when I keep knocking into things in broad daylight. My legs often get bruises and I kept it under wraps and didn’t tell anyone about it. So first is nyctalopia, now this? Am I losing my sight or am I just clumsy? Is it Vitamin A deficiency? 

So I decided to get my eyes checked at the public hospital and was diagnosed with suspected rare eye condition, Retinitis Pigmentosa.  But for the whole of 4 years with the hospital there, there was no mention of doing a genetic test to give me a confirmation. On my first visit, after doing a series of eye tests, the doctor googled (yes, he googled right in front of me!) my symptoms and the search came up with “Retinitis Pigmentosa”. So he told me that he suspected that my eye condition could be Retinitis Pigmentosa and he left it as that.

“Retinitis pigmentosa (RP) is an inherited, autosomal recessive degenerative eye disease that causes severe vision impairment due to the progressive degeneration of the rod photoreceptor cells in the retina.”

In layman terms, it’s inherited autosomal recessive eye disease, which means I must have the mutated gene from BOTH of my parents, who have no history of eye disease at all. Now tell me, what are the odds? So, in my opinion, it makes more sense to conduct a genetic family screening to further confirm the diagnosis, right? 

–  Then this was when the whole drama started – 

A year later, on my second visit, the second doctor saw the previous records and said I have Retinitis Pigmentosa (RP).  It went from suspected to confirmed condition with no genetic evidence. I tried to argue my point that it was said to be suspected during my previous visit but the doctor insisted that it is confirmed.

“Don’t I need to go for genetic testing to prove the condition before you can even confirm it?”

Instead of agreeing to my question, he went to ask the senior doctor to come over to prove his diagnosis. And I have never seen such a rude doctor in my whole life! The senior doctor took a look at my eye tests results, saw that I have a hearing impairment and she simply said in a curt tone, “You have Usher Syndrome.” Questions filled my head, “Usher’s Syndrome? What do you mean by Usher’s Syndrome?”

Usher Syndrome is an extremely rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. Vision will be lost progressively and is at present incurable.

Immediately, I was thrown into confusion. Can you imagine the emotional state that I was in, being thrown into the world of blindness in one second? 

On my next visit, I came with my aunt who is a nurse. I figured that maybe she was able to grasp the whole situation so that she can explain to my parents better. But we met the same senior doctor and she also agreed with me that the doctor was incredibly rude! I tried to bring up the topic of genetic screening of my family. But she misunderstood that my aunt came for the screening instead and she just replied impatiently that my aunt is not part of the  immediate family to do screening. And at the same time, she was also shouting at some poor young doctor whom I suspected to be fresh out of medical school. Either she has low EQ or she is just simply rude! We did a check on her, and to my distaste, she is actually appointed as the hospital’s clinical director. How can a doctor who hold such high senior position give this kind of attitude, I really wonder why. 

So after the next few follow-ups, my mother and brother managed to find the time to come with me. But to my dismay, I got that rude doctor again! WHY?!

Instead of doing blood tests as what I was hoping for, she just checked their eyes and said their eyesight are normal. I was loss for words. Here I was, expecting a genetic screening to end all confusion and all she did was to check their eyes physically. I am not denying their diagnosis. All I want is a simple genetic test! 

Every visit, I paid the subsidised bill of a few hundreds of dollars just to go through a series of tests, waiting for 3 hours just to get a rude consultation from a clinical director and still not getting anywhere. Finally I had enough. I cancelled the next appointment without a thought. Goodbye and good riddance!

After months of deliberation, with my then-boyfriend (now husband)’s encouragement, I consulted the private eye specialist who immediately arranged for the similar eye tests, as well as additional eye test which helps to further confirmed her suspicions. From there, she also mentioned ‘Usher’s Syndrome’, but she said she prefers me to go for genetic test which can help to give a correct diagnosis, while at the same time, she can also check my husband’s genes to see if it will be carried down to our children. She immediately arranged for a genetic test with another hospital without any delay. Together with my parents and husband, our blood were sent to USA for testing due to the lack of resources in Singapore and we got the genetic results all done in just a few months.

This private eye specialist is so efficient that she deserved a thumb up. And mind you, I am paying the subsidized rate for both hospitals so the fees I paid (excluded the genetic tests) for the private eye specialist is around the same as that rude doctor’s fees.

In just two visits to the private eye specialist, the mystery surrounding my poor hearing and vision  were solved. It was found that I have an abnormal gene out of the 11 genes that I was tested for. I am now placed under the Usher’s Syndrome registry, and I have opt for clinical trials  as well. Who knows, maybe one day, there might be a cure for it.

On top of that, the question that worry me whether my children will suffer the same condition as I do, I was extremely relieved when my husband was tested negative. We can finally start our family planning with no worry. The private eye doctor gave us a motherly smile and said, “I hope to see a baby the next time we meet for a follow-up!”

Someone asked me why I will choose to go through all these, putting myself in such turmoil. Knowing nothing is better than worrying about what you might have.

Am I devastated by the news that I get from the genetic results?

The answer is yes. I am devastated to the point that I sank into depression for several months. I kicked my friends out of my social life without any explanation, build my walls high up and even told my husband to think twice before we signed the marriage certificate.  But thankfully, most of my friends are really stubborn and still stick close to me as they waited for me to come out of my shell. My family, husband and friends have been really supportive that I managed to pull through and face my future heads on.

Turning to my paintings helps to bring me out of depression too. I remembered painting this during my trying moments. If you want to view in time lapse video, you can visit my past post here: Serene Night Painting Video.

The meaning behind this painting:
I used to be able to see stars many years back before my eyesight worsened. The first time when we were dating, my husband said the night was so beautiful because it was filled with stars. I told him that I cannot see it. The next sweetest thing he did was to take my hand and pointed out the brightest star of all.  I could make out the faint outline of it!

Back then, I don’t understand why I couldn’t see well.
I don’t understand why I couldn’t hear well.
But now, I understand why.

So yes, it is necessary for me to go through this. I choose to seek for answers, embrace the news and take the next steps to fight my own battle. Isn’t it better than having so many unanswered questions and making myself worry with all the unnecessary thoughts when I do not know what is going on?

With just one simple genetic test, the mystery is solved. 

As the quote goes, “Time and tide waits for no man.”

I know it is incurable, and I am losing my vision. I may go blind one day, or hopefully maybe not! But what I know is that time is running out for me, so why focus on the negatives and waste my time on that when time is so precious? Ever since the unconfirmed diagnosis, I have been learning to appreciate small little things, things that people take things for granted. If you are in my situation, look at the bright side of your life. Do things you love and fight bravely heads on!