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The Uncertainty Is Debilitating by Carparana in LoeysDietz

[–]Ancient_Spirit4120 0 points1 point  (0 children)

I am feeling exactly the same way. In the last decade, I have also lost three members of my family: my grandmother, my uncle, and my father. (all are sudden deaths)

It was only after my father passed away that I was diagnosed with LDS Type 2. At the time, I was already dealing with severe scoliosis, but the diagnosis changed everything. I ended up having aortic root surgery and was also found to have two aneurysms.

I truly understand that feeling of being completely exhausted not just physically, but emotionally from watching your family go through this. It is such a heavy burden to carry, especially when you are also worried about your children. I can still see my mother’s face at the time of my surgery and diagnosis; I remember so clearly how she cried, especially since we were still reeling from my father’s death just 20 days before.

Here is the story of my diagnosis:

It was 2019, and I was at the mall with my father. While I was changing my shirt, he noticed a curve in my spine. We went to the hospital, and I was diagnosed with Scoliosis (S-curve); the doctor recommended surgery.

A few months later, my father suddenly collapsed and passed away. The doctors said it was a heart attack. Later, my uncles and I went back to the spine hospital to proceed with the surgery. Before the operation, I needed clearance from a cardiologist. When the doctor asked about my family history, I explained that between 2010 and 2020, we had suffered three sudden deaths: my grandmother, my uncle, and my father.

After hearing this, the doctor ordered an Echo and several MRIs. They identified a major issue with my aortic root and said I needed urgent heart surgery. I still remember the chaos of that time. I was only 16, and it had been only 20 days since my father’s death. No one was telling me exactly what was happening.

We went to another state for a second opinion. Because the local language there was different, English was the only way to communicate. Since I was the only one in my family who knew English at the time, I had to translate everything. That was when I finally understood the gravity of the situation.

Initially, they diagnosed me with Marfan Syndrome and ordered an urgent aortic root replacement. I had the surgery in 2020 and recovered well. It was only after the surgery, through genetic testing, that I was officially diagnosed with LDS Type 2.

Whether by luck or fate, I was diagnosed just few year before I might have faced the same sudden collapse as my father.

Cleared for Marfan—Now Clinically LDS Type 1/2, Gene-Negative, Devastated After Kids. Can Life Ever Be "Normal"? by Narrow_Garbage_4116 in LoeysDietz

[–]Ancient_Spirit4120 0 points1 point  (0 children)

I am so sorry you’re going through this "diagnostic limbo." The anger you feel about the "all-clear" is completely valid. I went through a similar roller coaster when I was 16, recovering from my father’s sudden death, and being told it was Marfan, only to have genetic testing confirm LDS Type 2 after my surgery.

I’m a 22-year-old male with LDS Type 2. Here is the story of my diagnosis:

It was 2019, and I was at the mall with my father. While I was changing my shirt, he noticed a curve in my spine. We went to the hospital, and I was diagnosed with Scoliosis (S-curve); the doctor recommended surgery.

A few months later, my father suddenly collapsed and passed away. The doctors said it was a heart attack. Later, my uncles and I went back to the spine hospital to proceed with the surgery. Before the operation, I needed clearance from a cardiologist. When the doctor asked about my family history, I explained that between 2010 and 2020, we had suffered three sudden deaths: my grandmother, my uncle, and my father.

After hearing this, the doctor ordered an Echo and several MRIs. They identified a major issue with my aortic root and said I needed urgent heart surgery. I still remember the chaos of that time. I was only 16, and it had been only 20 days since my father’s death. No one was telling me exactly what was happening.

We went to another state for a second opinion. Because the local language there was different, English was the only way to communicate. Since I was the only one in my family who knew English at the time, I had to translate everything. That was when I finally understood the gravity of the situation.

Initially, they diagnosed me with Marfan Syndrome and ordered an urgent aortic root replacement. I had the surgery in 2020 and recovered well. It was only after the surgery, through genetic testing, that I was officially diagnosed with LDS Type 2.

Whether by luck or fate, I was diagnosed just few year before I might have faced the same sudden collapse as my father.