I didn’t expect my first post to be about what you are about to read. That’s life, I guess. What better way to kick off a blog about life, family, and faith than a short post about all three? If you are touched by this or it resonates with you, please share. This is an issue that needs attention.
A cold October day. The 5th. All was well and then it happened. My father died. Sudden, unexpected cardiac arrest. 38 years old. No one was able to explain how it happened other than his heart was enlarged. It was a mystery to me…the then 9 year old girl who didn’t understand anything other than she lost her father.
Fast forward 3 months. Johns Hopkins. Days of testing. He was a Marfan’s suspect. Why? Because he was tall, 6’6” to be exact. That’s it. No other criteria. They evaluated me and said everything seemed fine. Genetic testing was not yet available…so the mystery of his sudden death remained.
That mystery has plagued me and my family ever since. The specialist had said my sister and I should receive echocardiograms every few years just to watch for changes. Every PCP (a total of 4) we have seen over the years convinced us we were overreacting. There was no legitimate concern. We were just anxious because of his death. There wasn’t an answer to find. We got bad advice from the specialist. I became convinced I was just overly worried. Then the palpitations began…
Then the abnormal EKG result came through…
Then, finally, after 24 years, a genetic test was done. We received the answer we had been trying to find for so very long.
Pathogenic mutation for Hypertrophic Cardiomyopathy or HCM.
Let me say that again…24 YEARS!
Was I afraid? No. I knew all along something wasn’t right. I knew in my heart that my physicians were wrong. Fear wasn’t the emotion that came over me. I can only describe the feeling in two words. Separate but equally powerful.
Anger, I am so angry that a handful of doctors did not see this possibility. I am angry that it took so long for this to be identified. I’m angry that I was made to believe that I was somehow neurotic for self-advocating.
Vindication- I was right. I was justified in my search. Not that anyone wants to be right about this sort of thing. But, I had done the right thing by pushing and pushing….pushing for an answer.
Do I have a right to feel this way? Yes, I do. They should have suspected it.
My father died in 1991 and as early as 1993 famous athletes had died of the same cause at abnormally young ages.
When a specialist at Johns Hopkins suggests it might possibly be a genetic condition, I expect a PCP to listen.
The pain and confusion my family has been through for the past few years was unnecessary. A prolonged sort of grief, not that grief ever truly resolves, but this entire question just made it all the worse.
Am I mad that I have the mutation? No. Not even a little bit. I’m sure we all handle these things differently. Some experience grief of their own, anger, sadness, denial. It doesn’t bother me emotionally too much. After 24 years of searching, I am grateful for an answer.
I am thankful. Blessed. Happy to know that it is something that can be watched and monitored. Happy to finally have a physician who knows what he is doing.
It’s like this- Everyone has something. At some point in time everyone will have health problems or a crisis to deal with. We cannot expect perfection from our bodies.
What we can expect is for educated people to effectively do their job and listen to us.
If I feel anything from all of this it is the need to spread the word…not just for HCM, but for self-advocacy.
You know your body. Granted, anxiety can cause us to think something is wrong when in fact all is well.
But in this case, in a situation that is similar to this one- advocate, advocate, advocate!
Know what you need and know where to get it.
This is my journey with HCM….as of today I am genotype positive, phenotype negative. That means it’s there, but clinical symptoms have not manifested. I have a bit of cardiac testing ahead of me, but I will continue to have faith in God, think positive, and NEVER stop advocating for myself and my family.
To sum it up I will refer to a quote that has really gotten me through the past few weeks-
“I trust God with my life. After all, He gave it to me.”