When I worked as a speech-language pathologist, there was always a bright spot just after the start of the school year: my birthday. One morning several years ago, the secretary announced with a flourish:

“…and a very happy birthday to Mrs. Walsh and to Coach Perkins, who’s…30 today!”

Hmmph. Though I was happy to share, I also detected a ridiculous twinge of disappointment. But I’m 60 today!

When I later mentioned this, the secretary smirked. “I didn’t think you’d want it advertised.”

I laughed and rolled my eyes but not without a passing thought: Ah, but actually, I do.

Feeling special is nice. Feeling grateful is another sensation entirely.

I always assumed I’d die young. My parents and my brother were each gone too soon. They left me many things, of course—love and freckles among them—but my parents left me genes as well. My mother’s death from breast cancer at 49 was terribly tragic yet not unexpected. But my father’s death at 50, when I was 11, and my brother’s death at the shockingly young age of 27, both of heart attacks, let me know the odds were not on my side. At 20, I was the only survivor.

The trifecta of getting married, burying my brother, then beginning my first real job—all within a month—was only the lead-up to receiving the news, a year later at 21, that I had inherited familial hypercholesterolemia (FH).¹ FH had put me in a vastly different demographic from friends, who were diagnosed later in life with high cholesterol.²

For decades, I often heard, “You’re how old today? No way!” It seemed an unsettling contradiction, smiling at the ubiquitous “but you look so young” as I feared my insides were anything but. I took the medication available, cholestyramine, mega-doses of niacin, finally courses of statins, watched my diet, exercised, and hoped for the best.

As my 3 children arrived and grew, I paid attention. I knew how fortunate I’d been that in our small upstate New York village in the mid-1970s, my family physician had made this diagnosis. When each of my children turned 2—in 1981, 1984, and 1988—I insisted they be tested as well and was unsurprised when two of them, with total cholesterol of 298 and 398 mg/dL, had inherited FH. We were referred to a nearby physician with a lipid specialty, another stroke of fortune that changed the course of our treatment and our lives. And if I had any question about my diagnosis, a total cholesterol of 450 mg/dL during one of the few periods I was off all medication left no doubt.

In 2016, I found a cardiologist who understood FH, added a PCSK9 (Proprotein convertase subtilisin/kexin type 9) inhibitor and later ezetimibe, and attained LDL (low-density lipoprotein) levels within the targeted range for the first time. I’m reassured to see my daughter and her 15-year-old daughter, who both have FH, managing their own lipid levels so that they can enjoy long, healthy lives.

After nearly 45 years of monitoring my own cholesterol and heart health, I’m devoted to my work as a volunteer advocate for awareness for the FH Foundation. All too often, I speak with people who have a significant family history of early heart disease and extremely high LDL levels, yet have never been counseled about the potential for a genetic connection or the 50% chance their first-degree relatives may also have the disorder and have never understood the lifetime burden of plaque-developing LDL levels. I wonder how, if I could find appropriate treatment in 1976, patients are still missed in 2020. I’m grateful someone paid attention to my numbers, even then.

Two years ago, I had genetic testing through participation in the FH Foundation’s PAGENT study (Patient Acceptance of Genetic Testing)³ and was surprised that “no pathogenic or likely pathogenic mutations” for FH were identified. Understanding the impact of FH on my family and myself, this didn’t shake my conviction that I was on the right track with both the clinical diagnosis and treatment. As it turns out, a variant of unknown significance identified in my results is increasingly suspected to be pathogenic. Yet I worry that some of those who are recently diagnosed and might understandably prefer to hear they don’t, in fact, have FH, would be confused enough by the ambiguity in a result like mine to abandon life-preserving treatment. I’m again reminded of how important it is to communicate an FH diagnosis in a way that motivates someone like me to take appropriate action.

In many ways, I’ve lived my life by the numbers: total cholesterol and LDL levels—my kids’ and granddaughter’s and my own. Pill counts and dosages. How old I was when my loved ones died. How many birthdays they got to have.

Let me be clear: each new birthday is cause for celebration. These days, appearing younger than I am doesn’t seem like such a negative. So, if you’d like to slip in an, “Oh, you can’t possibly be that old,” I’ll take it.

Consider it my reward for having beaten the odds.

None.

Disclosures None.

The articles published in Viewpoints reflect the opinions of the authors and do not reflect the policy or position of the American Heart Association, and the American Heart Association provides no warranty as to their accuracy or reliability.

For Sources of Funding and Disclosures, see page 123.

当我担任语言病理学家时，在新学年刚开始时总会有一个亮点：我的生日。几年前的一个早晨，秘书兴高采烈地宣布：

“……沃尔什夫人和帕金斯教练生日快乐，他们今天……30 岁了！”

哼。虽然我很高兴分享，但我也感觉到了一种可笑的失望。但是今天我60岁了！

当我后来提到这件事时，秘书坏笑了。“我不认为你会想要它做广告。”

我笑着翻了个白眼，但不是没有想过：啊，但实际上，我有。

特别的感觉真好。心存感激完全是另一种感觉。

我一直以为我会英年早逝。我的父母和我的兄弟都过早地离开了。当然，他们给我留下了很多东西——爱和雀斑——但我的父母也给我留下了基因。我母亲在 49 岁时死于乳腺癌是非常悲惨的，但并不出人意料。但是我父亲 50 岁去世，那年我 11 岁，而我弟弟在 27 岁那年年仅 27 岁，这两次心脏病发作，让我知道可能性不大。20岁时，我是唯一的幸存者。

结婚、埋葬我的兄弟，然后开始我的第一份真正的工作——一切都在一个月内——这三件事只是在一年后，21 岁的时候，我收到了我遗传了家族性高胆固醇血症 (FH) 的消息。¹ FH 使我与朋友大不相同，他们后来被诊断出患有高胆固醇。²

几十年来，我经常听到，“你今天几岁了？没门！” 这似乎是一个令人不安的矛盾，对无处不在的“但你看起来很年轻”微笑，因为我担心我的内心不是这样。我服用了可用的药物，消胆胺，大剂量的烟酸，最后服用了他汀类药物，注意我的饮食，锻炼，并希望一切顺利。

随着我的 3 个孩子的到来和成长，我开始关注。我知道我是多么幸运，在 1970 年代中期在我们纽约州北部的小村庄，我的家庭医生做出了这个诊断。当我的每个孩子在 1981 年、1984 年和 1988 年满 2 岁时，我坚持要求他们也接受检测，并且当他们中的两个总胆固醇分别为 298 和 398 毫克/分升时遗传了 FH，我并不感到惊讶。我们被转诊给附近一位脂质专科医师，这是改变我们治疗过程和生活的又一次幸运。如果我对我的诊断有任何疑问，在我停用所有药物的少数几个时期之一中，总胆固醇为 450 毫克/分升，这是毫无疑问的。

2016年，我找了一位懂FH的心脏病专家，加入了PCSK9（Proprotein convertase subtilisin/kexin type 9）抑制剂，后来又加入了ezetimibe，第一次达到了目标范围内的LDL（低密度脂蛋白）水平。看到我的女儿和她 15 岁的女儿都患有 FH，我感到很欣慰，他们控制自己的血脂水平，这样他们就可以享受长寿、健康的生活。

在监测我自己的胆固醇和心脏健康近 45 年之后，我致力于作为 FH 基金会意识的志愿者倡导者的工作。我经常与有明显早期心脏病家族史和极高 LDL 水平的人交谈，但从未被告知遗传联系的可能性或他们的一级亲属也可能有 50% 的可能性障碍并且从未了解斑块形成的 LDL 水平的终生负担。我想知道，如果我能在 1976 年找到合适的治疗方法，到 2020 年仍然会错过病人。我很感激有人关注我的数字，即使在那个时候。

两年前，我通过参与 FH 基金会的 PAGENT 研究（患者接受基因检测）进行了基因检测³并惊讶地发现 FH 的“没有致病性或可能的致病性突变”。了解 FH 对我的家人和我自己的影响，这并没有动摇我的信念，即我在临床诊断和治疗方面都走在正确的轨道上。事实证明，在我的结果中发现的一种意义不明的变异越来越被怀疑是致病的。然而，我担心一些最近被诊断出并且可能更愿意听到他们实际上没有 FH 的人会因为像我这样的结果的模棱两可而感到困惑，以至于放弃了挽救生命的治疗。我再次想起以激励像我这样的人采取适当行动的方式传达 FH 诊断是多么重要。

在很多方面，我都是靠数字过日子的：总胆固醇和低密度脂蛋白水平——我的孩子和孙女的以及我自己的。药丸计数和剂量。我所爱的人去世时我多大了。他们有多少个生日。

让我明确一点：每个新的生日都是值得庆祝的。这些天，看起来比我年轻似乎并不那么消极。所以，如果你想插一句，“哦，你不可能那么老，”我会接受的。

把它看作是我战胜困难的奖励。

没有任何。

披露无。

Viewpoints 上发表的文章反映了作者的观点，并不反映美国心脏协会的政策或立场，美国心脏协会对其准确性或可靠性不提供任何保证。

有关资金来源和披露信息，请参见第 123 页。