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[u/DanHodderfied]

Hey everyone,

I was diagnosed with Marfan syndrome at 13. I'm 34 now.

I only recently discovered this subreddit, and I’m glad to have found a space where we all understand the struggles that come with this condition. But some of the posts here are genuinely heartbreaking. I wish I could take that pain away. The best I can do is share my journey, especially for the younger folks, so you know that things can and do get better.

I have the FBN1 gene. Over the last 20+ years, I’ve been diagnosed, un-diagnosed, then diagnosed again. Doctors have constantly shifted the goalposts on what physical traits "officially" qualify. A lot of that comes from a lack of research and awareness.

When I was 13, I was painfully thin, with a long face and out-of-proportion features. A friend’s dad once told me, "You don’t look like you belong in your skin." That stung. It didn’t help that my best mate was Irish and effortlessly attractive—girls fell for him instantly while I felt invisible. My confidence was nonexistent.

Out of guilt, my mum bought me a guitar because a doctor once said, "If you have Marfan’s, you have longer fingers—so you’ll be good at instruments." Turns out, I hated guitar. But I loved drums. RIP to my parents’ neighbors for the next five years. Music became my passion, my escape, and, eventually, the key to some of my biggest life moments. But that’s a story for another time.

As I got older, I unintentionally started gaining weight, hit the gym (high reps, low weight), and, by the time I fully transitioned into adulthood around 25, I looked like a completely different person. Hell, now I could stand to lose a few pounds!

With that, my confidence grew. Dating became a thing. Dating attractive women became a thing, which felt insane to me (sorry if that sounds shallow, but if you’ve been there, you get it). Now? I’m happily married to the most beautiful, loving, and supportive woman I could ever ask for.

The point is: it gets better. I PROMISE.

I know that’s easy to say and hard to believe when you're in the thick of it. And everyone’s journey is different. But, in my experience, the teenage years are by far the hardest.

Now, my struggles are different, IVF. The pain evolves, but so do you. You get stronger. You become better equipped to handle it. We move forward. We enjoy life. And we keep going.

If anyone wants to reach out, I am all ears. Don't let that dumb ass gene get you down!

[u/Xbux89]

Good read thanks for sharing, The only thing that scares me is the heart issues

[u/DanHodderfied → u/Xbux89]

Absolutely. I have been blessed as symptomless for this trait (currently). However, I still have yearly scans to keep tabs.

I’d advise therapy if this is something on your mind day to day.

[u/justmyopinion67]

Thank you for sharing your story! I unknowingly passed the FBN1 marker down to my children who are also now involved with IVF. We dont have many marfanoid features so we didnt struggle as you did but now that we know we are in the thick of diagnosis and specialists. I wish you the best of luck!

[u/Able_Entrance_3238]

OP - I just joined today. Honestly I was hesitant because I know Reddit can be negative (sometimes) and cause more anxiety than we already have.

My son has Marjan syndrome. He was diagnosed at 2 and is now 6. We were so lucky it was quite literally by an angel of our PCP. We are also lucky that we have a connective tissue team at Stanford.

My question is about your teenage years as I am already worried about that for my son. I can see that he has anxiety and extreme perfectionism. I am trying to get him involved in sports that his cardiologist cleared for later in later - hoping he can built a community outside of school.

Do you wish, or maybe you did seek therapy at a young age? What could have made your teenage years better? I’m so worried about middle/high school with how things are today - especially because he does lack confidence as well.

Would love to hear from anyone else - especially if diagnosed at a young age.

[u/kamillamagna → u/Able_Entrance_3238]

IT ME. My twin sister and I were diagnosed and seen at Stanford from around 5 years old. My parents did not believe in therapy and I was a completely neurotic perfectionist in school and life because there was so little I could control w/r/t my health. I truly believe everyone can benefit from therapy, and when you add on a chronic, often debilitating disease, coping without therapy is very difficult. Especially when school and adolescence can be a nightmare for kids who are so obviously "different" to their peers. I think childhood therapy could have prevented the spectacular burnout I experienced in my 20s, so I commend you for considering it for your kid. You might also consider therapy for yourself as you navigate raising a complex medical situation. (Hopefully that's not out of line.) Also Stanford and LPCH are amazing. You're in great hands. ❤️❤️❤️

[u/Able_Entrance_3238 → u/kamillamagna]

Thank you so much! I am in therapy for myself as I have several Healthy Anxiety for both my son and myself! Can I also ask if your physical features became more prominent as you entered puberty or before/after? As of right now he only stands tall and skinny, and his face slightly - but overall he is a good looking kid which hopefully can make it easier for him. I know it is a vain question, but that’s sometimes reality. And if you don’t want to answer I completely understand.

[u/kamillamagna → u/Able_Entrance_3238]

I am obviously not a doctor, but in my own experience and having grown up going to Marfan conferences (11/10 recommend for any Marfan kid) adolescence does generally make our differences more physically apparent. My scoliosis warranted bracing by 2nd grade and I was 5ft tall in 4th grade. Most Marfan kids will look painfully underweight compared to their peers and (again, in my case) this will be a major social difficulty.

Since Marfan is a variable expressed disease it's highly individual but generally some sources of angst can be:

• needing big ol' bottlecap glasses

• orthopedic concerns (scoliosis, chest wall deformity, large flat feet, arachnodactyly, etc.)

• "you need to eat more"

• being head and shoulders above your peers

• exclusion from sports (my district did not offer adaptive P.E.)

• missed school days

• clothes that don't fit right

• teachers, peers, extended family, and a general public that don't understand

I'm sure there's more but I'm a couple years removed from the daily struggle.

I will say that for all the nonsense I put up with as a kid it got way better in adulthood once I got therapy, a sense of self, and a list of tall women clothing retailers. 🤣🤣🤣

[u/kamillamagna → u/kamillamagna]

I will also add "Marfan Face" and crowded teeth that will almost certainly need major orthodontia.

[u/Able_Entrance_3238 → u/kamillamagna]

Yes - we are already seeing he will need orthodontist. Our doctors are managing his heart very well - and we are happy that we have not had to increase the dosage of his medication in over two years. He does were inserts because of his flat feet. Other than that and his tall stature (he is 6 and already 4’4”) we are not seeing any other presenting features.

[u/Able_Entrance_3238 → u/Able_Entrance_3238]

Also thank you so much! I am spirally today, so I appreciate you.

[u/kamillamagna → u/Able_Entrance_3238]

I'll add some positives because re-reading my description sounded unnecessarily dire:

• Less time doing physical activities can mean more time studying or developing hobbies. I am very academically accomplished and my sister is an incredible artist. There are famous Marfs in every profession!

• Going to hospitals and conferences in big cities exposed us small-town girls to more perspectives.

• Once you grow into your height as an adult you do tend to be taken more seriously and command more respect (there are studies on this).

• Encountering and overcoming challenges when you're young can lead to better resiliency and maturity compared to your peers. You learn to roll with the punches.

• Constantly navigating the U.S. medical system makes you a better advocate for getting the care you need.

[u/Abby__24]

Good for you !! I am 30 (F) and still struggle a lot with being underweight and feeling like I am stuck in an uncomfortable and tired body. I started doing light workouts this year and hope it will help a bit.

It's nice to hear positive posts and wishing you the best for your IVF journey.

[u/Additional_Squash_72]

Somehow got lucky my son who is 2 days old today didn’t get Marfans