New Diagnosis

"Patrick may have this. Or not. Take the genetic test to confirm."

Professor Ng made the suggestion to us. We assumed that diagnosis was eliminated in 2017 after KASAI surgery. Patrick did not appear to have its symptoms. So, biliary atresia it was.

We went ahead with the genetic test on Patrick and on us as parents. We did ponder what if Patrick did not have biliary atresia after all. No matter what the test revealed later, we will accept it. 

Results returned - Alagille Syndrome. It was not biliary atresia. Alagille still have liver problems together with possible other organ complications such as kidney, heart, eyes among others. 

As parents, the test returned that we do not have the Alagille gene. That meant it was a spontaneous mutation in Patrick. 

Was I upset? Well, I have been accepting he has an illness that is a long-term management. Now it is a different diagnosis with the same long-term management. Acceptance makes it easier for us to move forward. What is very important to us as parents is Patrick's wellbeing. We need to read up more on Alagille now. 

When we shared this new diagnosis to one mother of the Biliary Atresia support group, she asked how could that happened? If the Alagille gene did not come from the parents. How could it just happened? What caused it to happen? 

Was it age? This year I would be 47 years old. Usually the common belief would be the higher the maternal age of the mother, the higher chances of health complications of the foetus. Yet I know of a mother whose daughter also have Alagille is only 32 years old. 

Another possibility would be lifestyle or nutrition of the mother that affect the pregnancy. Another possible reason would be stress.  

I remembered my mother in her mid 20s pregnant with my younger brother. She shared with me she believed it was because of the stress she went through during her pregnancy that caused him to have a hole in the heart. My dad were outstation for work. My mother was left alone at home. My mother is a Singaporean. Her family members are not in Malaysia. When she married my dad, it was a big change for her. No friends, unfamiliar environment and no family members. 

She shared how she approached her in laws to help take care of her. She was rejected with the reason that they were elderly then. If there were break-ins to the home, what can they do? So my mother was given a whistle to call for attention if there were break-ins then. 

My mother shared how fearful she was every night. In tears often, while holding tightly of the whistle. Her heart palpitating that affected her sleep. Sometimes she felt she could hear something or someone coming into the home. She was alone with me. At the time I was almost 5 years old. 

This represented my mother in distress. 

I remembered when I shared my brother have a hole in the heart until today, the doctor paused. Because it may appear that my side of the family may have the Alagille gene. Heart defects are one of its common symptoms. However, the genetic test revealed I do not have the gene. 

When I recalled the stressful experience my mother shared with me during her pregnancy, I ponder on my own pregnancy. I do have stress like any other normal mothers especially with the physical changes.  However, towards the last month of my pregnancy, I did undergo a great amount of stress. Could that be it? 

Yet does it matter anymore? Because focusing on the past would only take away the time, attention and efforts from Patrick. Patrick is my first priority. Holding on to the past may only create anguish and anger like how I saw my mother had over the years towards her late mother-in-law for not being empathic enough. It was possible my late grandmother ( my dad's mother) did not have the confidence in taking care of a pregnant daughter in law. Both have communication problems as well. My mother was English educated and could not converse much in Chinese language. My late grandmother could not understand English. 

I had seen how this have caused my mother to be unhappy for a long time. She blamed my late grandmother for my brother's physical health. I don't wish to carry this negativity in me. It is time to stop the circle of negativity. 

I believe the doctors until today are still researching on why some mutation in the genes happened spontaneously. 

No matter what, Patrick.... we shall be there for you as your parents. We shall do all we can for you. We shall fight for you. We shall love you no matter what. 


Daddy and mummy will support you, love you and protect you, Patrick.

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