The Little Guru

It’s all in the Genes…

I have had my fair share of Dr visits throughout my teenage life, but walking into the Vitalab Office to meet with a fertility Dr, was very new territory. Realisation set in, in that moment for me. We were on the road to starting a family.

After many discussions and research with my long time GP, I booked to see Dr Gobertz. I cannot express how incredibly amazing this Dr was. From the moment we walked in, it was an instant warmth of a bubble that he creates for you.

The conversation started with us telling Dr G about my chronic illness and how our next best option would be surrogacy, but M and I had a dark cloud hanging over us being, what are the chances that our child would inherit my bad gene being Pulmonary Hypertension?

Luckily for us technology has advanced in wonderful ways where were can do certain tests to see if we can pick up the bad gene and have it taken out. Amazing right..? but in the back of our minds, wouldn’t that be interfering with Mother Nature?

My husband’s motto in life is that you shouldn’t mess with 2 things: Mother Nature and Mother-in-laws. So when we asked Dr G that exact question of whether or not it’s the right thing to have an embryo altered, I couldn’t help but feel that I was blindsiding her and that she would punish us one way or another. 

It Get’s Technical…

Dr G talked us through the next step, being genetic testing and referred us to a Genetic Counsellor. Our appointment ended with a big hug for now from Dr G.

I was feeling optimistic.

Fast forward to 2 weeks later, we finally met with the genetic counsellor. It was insightful, fascinating and emotional. It really felt like a couples counselling session because even though the questions were simple, I couldn’t help but feel immense guilt wash over me. I laughed and cried all at once. All I kept wondering was that I know Im the bad gene here, why do we need to do a test to prove it?

It was alot of information to take in so the video below will give you a great understanding of where we at in terms of ‘X’ and ‘Y’ genes.  You can learn more here

As I am the only one in my entire family that has Pulmonary Hypertension, it is very difficult to determine whether our child would be a carrier of the disease or if it will be inherited as I have been diagnosed with the disease at a young age with no other history. 

More than 80% of baby’s that are born with a bad gene, are born to parents with no family history of any illness. As I am the affected ‘mother’ the risk increases in a very big way!

Our genetic counsellor went on to tell us that she had been researching statistics and found that the pick-up rate of gene changes in individuals without a family history and PH is unfortunately lower than those with a family history. If we were to go forward with the genetic testing the test would only  have a 25% chance of picking up a gene. Only 25%.

This test covers the most common genetic causes of PAH. Pathogenic variants in BMPR2 account for up to 75% of familial PAH cases and 25% of simplex PAH cases (i.e., a single occurrence of PAH in a family). The remaining genes on this test panel account for a rare or unknown proportion of PAH. Adding preliminary evidence genes will not increase the clinical sensitivity of the test at this time.

In all honesty, I did’nt register the statistical number when she said the words. I didnt process that there was only a 25% chance that they would find the gene. Looking back now, I cant help but knock myself on the head telling myself that “Well.. duh Nicole, of course it would be low, because if it was higher, that would mean that there would be cure for Pulmonary Hypertension.” I was floating in my happy bubble, cant you tell…

 

Image result for diagram illustrating genes being carried of dorment in fmaily"

Percentage Talk

Suretha, the Genetic Counsellor went on to say that chances of our baby being a carrier would be 50-65% which she explained that , yes, it’s a high percentage but a carrier of an illness can stay dormant forever BUT, in other cases, the child can be a carrier and years later the illness comes out far worse than the affected ‘mother’- My bubble started to deflate.

With kind eyes, Suretha asked if we would still like to do the genetic testing. I glanced at my husband for re-assurance and said of course we would. He smiled so sweetly and said ok. My little bubble of happiness burst right there and then. I realised what was happening. My husband knew all this time what the words meant the minute she said them. He knew that she was telling us that the chances of us having a healthy baby was minimal. 

The test in itself is a simple saliva test, that get’s packed neatly in a box and shipped to the USA. Costing +-R3000, this test could determine the outcome good or bad for many couples planning for a future family. For us, it seemed our future of having a family was slipping further and further away. 

We walked out of the building hand in hand. No words shared between us until  we reached the car. I felt like a failure as a partner, a wife and as a friend. We sat for a while and my husband went on to say: “Whatever happens, whether good or bad, the results will help another family” Tears filled my eyes and I just hugged him. 

Both feeling utterly defeated, all we can do is wait to see what the results bring us. 

For me, all optimism is gone.

4 Comments

  • Crying reading your message Nicole…hang in there. Vitalab is great…i went there myself. Prayer is powerful so please keep the faith…easy for me to say i know.

    Thinking of you

    Reply
  • Beautiful Nicole although it wasn’t the news you hoped for. There is still hope & technology is improving everyday. You are a remarkable woman who still keeps your beautiful smile even when the world is weighing you down. Hang in there, there is a light at the end of this tunnel. I truly believe everything will work out.

    Sending you tons of love and strength

    Reply
    • Thanks my Clauds- I do believe there is a purpose to all of this. Things all happen for a reason and whatever the outcome, it will be ok

      Reply

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