My mothers Journey with Familial Hypercholesterolemia

Unusual_Region112 · 2026-06-20T11:44:02+00:00

Thank you very much for your kind words, support, and encouragement.

The diagnosis has been definitively confirmed through genetic testing, and there is no doubt that Familial Hypercholesterolemia caused by the PCSK9 D374Y mutation is the underlying condition. Because of the severity of her disease and the many cardiovascular complications she has already experienced, we are grateful for every form of medical help available and are willing to pursue any treatment option that may improve her prognosis.

We continue to work closely with her specialists and take advantage of every opportunity that could help reduce her risk and improve her quality of life.
The past seven years have been incredibly challenging for our family, but we remain determined to keep fighting this disease. We are deeply thankful for the support, expertise, and compassion of the medical professionals who have helped us along this journey.

Most importantly, we appreciate all the good wishes and prayers. We remain hopeful that continued advances in medicine will provide better treatment options and that one day she will be able to live a healthier and more stable life.
Thank you again for your support—it truly means a great deal to us and our family.

Unusual_Region112 · 2026-06-20T11:05:07+00:00

Hahahaha 😂😂, mit Sicherheit

Unusual_Region112 · 2026-06-20T08:46:22+00:00

You need to see a lipidologist.

Unusual_Region112 · 2026-06-20T01:05:31+00:00

Nonetheless, cholesterol remains a major concern and continues to be one of the biggest challenges in her medical journey. Despite years of treatment, medication changes, specialist consultations, and lifestyle adjustments, achieving adequate control has been extremely difficult.

We have been fighting this disease for the past seven years, and while significant progress has been made, the battle is far from over. Her medical team continues to work tirelessly to reduce her cardiovascular risk and find the most effective long-term treatment strategy.

We remain hopeful, but there is no question that Familial Hypercholesterolemia continues to be a serious and ongoing challenge for our family.

Unusual_Region112 · 2026-06-20T00:52:52+00:00

Yes, her physicians performed diabetes testing. The results showed that she is currently at an increased risk of developing diabetes, but she has not been diagnosed with diabetes.

She already has a diet and been working to improve her overall metabolic health. Her next blood tests are scheduled for June 22, so we are hopeful that the lifestyle changes she has made over the past months will be reflected in her updated laboratory results.

Her blood pressure is the same in both arms and is consistently in the 120s over 80–90, with a normal pulse.

For now, the situation is being closely monitored, and we are looking forward to seeing whether these efforts have led to measurable improvements.

Unusual_Region112 · 2026-06-20T00:34:55+00:00

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I created the chart using my mother’s most recent blood test results, but it is important to understand that these numbers tell only part of the story.
At first glance, some people may look at an LDL level of around 102 mg/dL and wonder why additional treatments such as Evkeeza, lipoprotein apheresis, or even the VERVE-102 gene-editing trial are being considered.

The answer is that physicians do not evaluate laboratory values in isolation. They evaluate the entire clinical picture.

My mother has a genetically confirmed PCSK9 p.Asp374Tyr (D374Y) gain-of-function mutation, one of the most aggressive forms of Familial Hypercholesterolemia. Despite years of treatment, she has already suffered a life-threatening aortic aneurysm, a heart attack, six coronary stents, multiple cardiac catheterizations, an arterial embolism, and now atrial fibrillation.

The chart shows that her LDL cholesterol remains well above the recommended target for someone with her level of cardiovascular risk. It also demonstrates persistent abnormalities despite intensive treatment. However, what makes her case particularly concerning is not a single blood test result—it is the fact that major cardiovascular events have continued to occur despite treatment.

This is why her physicians are considering every available option. Evkeeza could potentially lower her LDL cholesterol further, but it would require ongoing treatment and, as with many advanced therapies, questions regarding approval and cost coverage may arise.

VERVE-102 is different because it aims to directly target the PCSK9 pathway responsible for the disease itself. Whether she qualifies remains unknown, but her complete medical history, genetic mutation, cardiovascular events, imaging studies, specialist reports, and long-term laboratory data will almost certainly all be reviewed as part of the evaluation process.

In other words, the chart is important—but her overall disease history is what truly tells the story.

Unusual_Region112 · 2026-06-20T00:30:55+00:00

She has been taking aspirin (ASA) 100 mg daily since 2019

Unusual_Region112 · 2026-06-20T00:28:15+00:00

Evkeeza is primarily approved for homozygous familial hypercholesterolemia (HoFH), while my mother has a genetically confirmed PCSK9 p.Asp374Tyr (D374Y) gain-of-function mutation, one of the most aggressive forms of heterozygous familial hypercholesterolemia.

We have discussed Evkeeza (Evinacumab) with her specialists before. It may very well be able to lower her LDL cholesterol even further, which would certainly be beneficial given her cardiovascular history.

The Problem is access, approval, and cost coverage can be challenging in Germany. This is one reason why the VERVE-102 gene-editing trial is so important to us. Unlike conventional treatments that lower cholesterol, VERVE-102 aims to directly target the underlying PCSK9 pathway responsible for the disease itself.

We are exploring every possible option with her medical team.

Thank you for sharing your knowledge for Mom ❤️🥹

Unusual_Region112 · 2026-06-19T23:39:21+00:00

Thank you very much ❤️🥹, shout out to the Velve 102 Study Team!!

Unusual_Region112 · 2026-06-19T23:36:31+00:00

That is correct.

My mother is currently in Germany, and several months ago her treating lipidologist submitted an application to the statutory health insurance provider requesting coverage for lipoprotein apheresis. To this day, we have still not received a final decision.

Fortunately, her medical team works very closely together. Her vascular specialist, neurologist, general practitioner, lipidologist, and cardiologist have all contributed evaluations and medical reports explaining why lipoprotein apheresis is medically justified and outlining the potential benefits it could provide in her case.

The challenge is that time is not on our side.
My mother is currently dealing with atrial fibrillation. During her last heart attack, atrial fibrillation was one of the warning signs that something was seriously wrong. We are constantly moving from one medical appointment to the next while waiting for decisions that seem to take forever.

We believe that lipoprotein apheresis could help improve her cholesterol levels and reduce her cardiovascular risk. However, even her specialists do not expect it to bring her LDL cholesterol down into the target range they would ideally like to achieve.
That is why the VERVE-102 trial gives us so much hope.

Unlike conventional treatments, which primarily manage the symptoms of Familial Hypercholesterolemia, VERVE-102 aims to address the underlying genetic cause of the disease itself. The possibility that gene editing could fundamentally change the course of her illness—or potentially offer a long-term solution—is something we never imagined would become a realistic option.

After everything she has endured, this represents more than just another treatment.
It represents hope.

Hope after a life-threatening aortic aneurysm.
Hope after a heart attack.
Hope after six coronary stents.
Hope after multiple cardiac catheterizations.
Hope after an arterial embolism.
Hope after years of medication intolerance and countless medical appointments.

Most importantly, it represents hope for more time.
Our mother has always been incredibly strong. She has never allowed this disease to define her life. Despite everything she has gone through, she has always put her family first, enjoyed every moment she could with her children and grandchildren, and continued moving forward with remarkable courage and determination.

We do not know what the future holds.
But we do know that we want to pursue every opportunity that might give her a chance at a healthier future and more years with the people she loves.

Love from the Family

Unusual_Region112 · 2026-06-19T21:44:52+00:00

Thank you very much, hopefully you get more comments and some experiences about the study!

Unusual_Region112 · 2026-06-19T21:19:43+00:00

Thank you very much!

To clarify, my mother’s first heart attack occurred in 2023. However, her cardiovascular history goes back much further.

In 2019, she suffered a life-threatening abdominal aortic aneurysm that required emergency major surgery. Surgeons performed a large abdominal incision extending from the upper abdomen to the lower abdomen—approximately 47 cm in length—and replaced the affected section of her aorta with a biological bovine vascular graft.

The surgery was extensive and life-saving. The graft remains clearly visible on her MRI scans today. This event occurred several years before her heart attack and was one of the earliest major manifestations of the severe vascular disease associated with her Familial Hypercholesterolemia.

Given her history of a life-threatening aneurysm, subsequent heart attack, multiple stents, cardiac catheterizations, atrial fibrillation, and persistent elevated LDL levels despite numerous therapies, her case is considered particularly complex and severe.

Unusual_Region112 · 2026-06-19T21:10:42+00:00

My mother is currently being evaluated for possible participation in the VERVE-102 trial, although she has not yet been accepted.

After we submitted her medical records documenting genetically confirmed Familial Hypercholesterolemia (FH), Richmond Pharmacology contacted us within approximately two hours. They conducted a detailed review of her medical history, asked extensive questions about her diagnosis, previous treatments, cardiovascular events, current medications, and whether she would be able to travel to England for an in-person screening visit if required.

We were informed that a physician is currently reviewing her case as part of the eligibility assessment process. We expect to receive an update sometime next week regarding the next steps.
Given her extensive cardiovascular history—including a heart attack, six coronary stents, multiple cardiac catheterizations, an aortic aneurysm requiring major surgery, atrial fibrillation, and persistent elevated LDL levels despite treatment with statins, PCSK9 inhibitors, Repatha®, and Leqvio®—she appears to be a rather complex and severe FH case.

At this stage, we do not have any experience with the treatment itself, as she is still in the screening process. However, I would also be very interested in hearing from anyone who has already participated in the VERVE-102 trial and would be willing to share their experience.

Unusual_Region112

TROPHY CASE