Kay Julius
HCM, it's a family thing.
In 1982, my mom was diagnosed with hypertrophic cardiomyopathy (HCM); she was in her early 40s. In 1985, when I was 14, we did the right thing; I was tested. My echocardiogram results were negative for HCM, and we were told I was in the clear and nothing else needed to be done. We have learned a great deal about HCM since the 1980s!
In 1996, at 25 years old, I had my first son. He was born with a heart murmur. With a history of HCM in our family, he was tested, and his echo returned negative.
In 1997, I asked my doctor if I needed to be tested again for HCM. He told me no. I insisted, and he said, "I already know the test is going to be negative, but if it makes you feel better, we will test you." The echo results showed I had HCM. What if I had never asked to be screened again? This underlines the importance of self-advocacy. As it turned out, I had high-risk markers for sudden cardiac arrest, so I received an implantable cardioverter defibrillator (ICD).
I was 28 when my second son was born in 1999. He was diagnosed with HCM at 18 months. I was now the mother to a child with HCM, which was very different from being the patient or the daughter. HCM challenges you in so many ways.
In 2002, my nephew, Derek, died suddenly at ten years old on a school playground. We knew he had HCM; he was diagnosed at age 3. He had had a variety of tests just before his passing, and we were advised by the doctor that, since he had no symptoms, there was no need for an ICD, and the doctor recommended his parents bring him back in a year. He died two months later. This was another case of misinformation about HCM in our family from a medical professional, and this time the outcome was tragic. They immediately implanted defibrillators in his sister and father (my brother). After my nephew's passing, I questioned the doctors as to whether my HCM-positive son, age three at the time, needed a defibrillator, and we were told no. We have learned so much more about SCA risks since 2002.
In 2003, my doctors in St. Louis (not COE doctors) wanted to do an ablation. I sought advice from the Hypertrophic Cardiomyopathy Association (HCMA). Lisa Salberg, CEO and Founder of the HCMA, suggested I go to an HCMA-recognized Center of Excellence (COE) for a second opinion. I chose to go to a COE in Minnesota, and because the ablation was pretty new then, they opted to do a myectomy. I'm very appreciative of the advice I received from the HCMA.
In 2004, I took my youngest son to the same HCMA-recognized Center of Excellence, where I had my myectomy, for a second opinion. After evaluation, they immediately decided to implant an ICD due to the measurement of his heart's thickness and because his first cousin had died suddenly of HCM. I am grateful they did because, at the age of 11, my son went into cardiac arrest while running at school, and an appropriate ICD shock saved him. He never had symptoms until he went into cardiac arrest, just as my nephew did not have any symptoms. If it wasn't for the HCMA, I'm not sure that I would have decided to take my son to the COE in Minnesota for a second opinion, which saved his life.
I had both my sons and me genetically tested. A gene mutation was identified in all three of us; however, my older son did not show HCM on an echo until age 14, which is when he also had an ICD implanted. The power of genetic testing enabled us to know who was at risk and follow them closely.
Please share this story to bring awareness to Heart Month!
To learn more about accessing care at a HCMA Recognized Center of Excellence, go to https://4hcm.org/center-of-excellence/.
To learn more about hypertrophic cardiomyopathy (HCM), go to https://www.4hcm.org.
#4HCMAwareness #HCMStrong #HCMDay #4HCMWarriors #4HCM
So, let's review my family history because, unfortunately, it is not uncommon - there are many HCM families like mine!
In 1993, my mom died of HCM complications at the age of 56. She was the oldest of ten kids - as far as we know, she was the only one with HCM. Out of her seven kids, five have HCM, and they all have defibrillators. Out of those five children, she has twelve grandkids, six of whom have HCM. Note: If you have one of the sarcomere mutations known to promote HCM, your children have a 50% chance of inheriting that gene mutation. Their chance of inheriting HCM itself is less than 50% since not everyone with one of these mutations develops the disease.
My niece has two kids, ages 6 and 9. They both have tested gene positive for HCM. Her oldest was diagnosed with HCM at two weeks old and received an ICD implant at age 8. The youngest is gene positive but does not show HCM on echo at this time.
My other niece had her eggs tested for HCM before getting pregnant, a process called Preimplantation Genetic Diagnostics PGD, so her children would not have HCM. Out of 11 eggs, 9 had HCM and were not implanted; she now has two healthy kids with no mutation for HCM.
My brother, Keith, who was diagnosed with HCM at age 24 and is the father of my nephew, who passed away, had a heart transplant at 50. Twelve years later, he is still doing well.
I have a sister, Joyce, who is about to be placed on the heart transplant list.
When my youngest son was 17, he started to experience more symptoms, including syncope episodes (passing out). His ICD recording and additional testing showed no reason for these episodes, so his syncope is not associated with an arrhythmia. Several times when he would pass out, he was not even exerting himself, just sitting or walking. His COE doctors discussed with him that he might eventually also be facing a heart transplant pathway.
UPDATE From Kay:
Earlier in 2023, my sister Joyce received a new heart and is doing well. She completed her PT and is able to walk around her house with no help. Unfortunately, my brother Keith passed away in November of 2023 at the age of 64. He was such a phenomenal person and will be greatly missed. The one thing that brings me peace is knowing he was united with his son Derek.
HCM has taken a great deal from our family, and it has also taught us the importance of advocating for what each family member needs, which varies greatly from person to person. My advice is simple, get informed, get educated, and stay involved.
