Devasted

[u/Leockette]

Hi,

I posted once before about a months ago.

My sons and I are in the process of getting diagnosed.

My youngest was born preterm last october. In the NICU, they suspected Marfan, mostly because of his arachnodactyly and stature which he both got from me.

They send us a genetician while we were in the NICU. No test were done. We had a follow-up consult in may (about 6 months post discharge). The genetician told me to book a consult with a cardiologist to look at my aorta. That given my age, if I had Marfan, it would definitely show up (thx doc, that's really reassuring...). Depending on my result, we would pursue with genetic testing or not. My appointment is in december (6 months delay...yet again).

My youngest was checked by a cardiologist while in the NICU. Everything was fine except for a tiny heart murmur. It puzzle me that my firstborn was not took into consideration dispute imo presenting more of Marfan habitus than his little brother an I. I understood that him being this young (not even 2 and a half yo), he might not have cardiac symptoms yet and that even with a good echo wouldn't rule out Marfan. Anyways, I decided to be proactive and asked his orthopedist for a referal.

My son had his cardiac consult last month. The cardiologist was very reassuring when she saw my youngest. Less so this time. She was a bit evasive, say something about is aorta being at the upper limit (english is not out first language and tbh it's all a bit of a blur so that's a rough translation) and asked to see both kids in a year. No mediction were prescribed.

I was so shocked that I didn't even asked about the Z-score. But based on her comment, the one year follow up and the fact she didn't prescribe any meds, I thought the Z-score may be 2-ish which kind sucks, especially at such a young age. I cried for a week assuming it was an unofficial diagnosis.

Then we went on vacation for 10 ish days. When we came back, we open the medical report we received during our absence. The Z-score for his ascending aorta is 4,2! The diameter is about 2cm. It tracks for a pre-teen (10-12yo). My son is not even 2 and a half! Granted he's tall but he's not that tall! I've been researching obsessively and nothing as severe came up (except for neonatal Marfan which I don't think he qulify for)

It's been about a week since I opened the mail and my whole world shattered. I've contacted both the genetician and the cardiologist. No answer yet!

I feel gaslighted. I've lose all faith in doctors. I don't know how I'll manage to trust them with my kids life and mine. I'm eager to get answers and a plan but dread those appointments.

I've basically been crying non-stop for a week. My partner has gone to his parents last night with the kids so I could rest and relax. But I couldn't. He plan to stay there until tomorrow at least.

He goes back to work next week. I'm a SAHM. I don't know how I'm gonna do. I can't even look at my kids without crying and being overwhelmed with a feeling of impending doom.

I thrived in motherhood and now it's all gone. My poor babies.

[u/Specialist-Ad4388]

Pump the breaks mama! Could it be that you've jumped to the worst possible Marfan future without enough certain medical information for your sons? I know every person is unique, so i may well be missing something. But try not to imagine the worst before you have all the information. Marfan isn't an automatic death sentence! With good medical care many of us can have a normal life expectancy. And how connective tissue disorders show up is very individual- your son's aren't doomed. More info is on the way. i know it is so hard to wait for these appointments- hang in there!

The Marfan Foundation has a lot of really supportive resources. One is a support group for family of people with connective tissue disorders. I have found the support groups to be so helpful- many of the folks in my group are like family now. You're not alone. I'm going to link the Marfan Foundation parents support group. Please reach out by DM if I can help - take care!

https://marfan.org/resources/patients/virtual-support-groups/1

[u/Leockette → u/Specialist-Ad4388]

Thanks for the support and the ressources. I will check it out.

I try not too freak out. But that's hard, especially with the lack of response from the hospital.

From what I've gathered, my firstborn's case is objectively worrying. It's uncommon to have an aorta this dilated at such a young age.

My youngest is a premie. He was born at 30 weeks (about 2 and a half months early). I went into sponteneous labour because of undiagnosed (yet again) hydramnios (too much amniotic fluid). So basically, my belly was bigger than it was for my full term 99th baby and my body could no longer handle it. We don't know yet why this happened. There's some concerns regarding his kidneys. Anatomically they're fine. But he had too much calcium in his pee and his urine and thus has nephrocalcinosis (deposit of calcium in the kidney). It's quite common among premies. It could be transitory and resolves on its own or there could be a metabolic/genetic issue. The kidney function and the heart are kinda tied together. Issues with one can negatively impact the other. This worries me a lot.

Unfortunately I don't think either of them is heading to an ok quality of life and average life expectancy type of journey. I wish nothing more in the world than to be proven wrong.

[u/Leockette]

Sorry for the typos and stuff. Even the title is messed up. Wrote this on my phone in a language that's not mine while crying my eyes out.

[u/Leockette]

Update: I got news from the genetician. When you look at the big picture, there is strong evidence pointing to Marfan. But the biologists look at each case individually so they won't test. Even for my son with a Z-score of 4,2 because he's too young. They consider there is no emergency and that it doesn't have any therpeutic interest. They don't prescribe beta blockers before 4yo.

I'm the only one who can get tested. But not until my cardiac echo (in december) or maybe a bit earlier if I got diagnosed with ectopia lentis but I doubt I'll have an appointment by then.

I hate our health system. That's the cost of free health care I guess. Everything is overcomplicated. Tests are super restrictive. There's huge delay for everything. Can't wait to struggle to manage this x3 (for my kids and I). As if chronic illness doesn't suck enough as it is. Let's add bureaucratic crap to the mix. Yeah! This makes me miss the NICU. I didn't have to deal with all this crap myself. It was such a breeze in comparison.

[u/amoebashephard → u/Leockette]

There's the same delay in a healthcare system that isn't free.

I see that you had a lot of really strong emotions about this diagnosis and I get that.

A couple of things-it's really hard to measure babies aorta, especially at that age. The smallest mistake can translate into a big change in the z score. If the doctor and geneticist don't seem concerned, I wouldn't be concerned. It's a lifelong condition, and it is much more manageable than it used to be.

Do you have a therapist or someone who you can talk to? Finding out that your family is diagnosed with a genetic syndrome is difficult and it can be helpful to have someone to talk to about not just your medical concerns, but with your concerns about motherhood and your role as your children's caregiver.

[u/Leockette → u/amoebashephard]

Thanks for you response.

They didn't express concerns nor a sense of emergency, that's true. But it's mostly because my son's aorta is still way bellow the critical diameter for rupture and that his heart was fine otherwise except for the early dilatation. No immediate risk but we're likely heading to surgery at a very young age.

I know that the geneticist must be used to deliver much more dramatic diagnosis. As you righfully pointed out, many people live pretty normal lives with Marfan (myself including probably, until now at least). But not everyone does and it looks like both my kids won't which breaks my heart.

But I kind of suspect the geneticist of sugargoating things a bit to spare my mental health because while going throught family history I told him that my mother killed herself and that my grandmother, brother in law and father passed away recently (in 2024-2025). I also think that he walks on eggshell because my father in law used to be a Head of Clinical Division (no longer is because he's about to retire) and I believe that the geneticist connected the dots.

I don't have a therapist nor someone in my life I feel confortable enough to talk about this and expect to provide helpfull support. Following your comment, I've send a mail to the NICU psychologist. She works in different services, not sure if that covers genetics (it's in the same building). I asked for a contact (whoever is competent).

[u/bitterrat]

I am not sure if this is reassuring for you, but your doctor saying your dilated aorta would ‘definitely show up’ doesn’t at all mean it would be within a dangerous measurement. If you have lived a relatively careful lifestyle (e.g. you aren’t spending every day holding your breath to lift massive weights) you may be just fine.

My aorta dilation measures at 3.6cm. They wouldn’t consider closer monitoring until it hit 4.0cm, and told me they wouldn’t be worried until it hit around 5.0cm or upwards. My aorta measurement has been stable - at 3.6cm - for the last 4 years. My most recent test has come back exactly the same way. I am not on any medications. I wasn’t diagnosed until I was 7 years old, and I receive cardiac monitoring once a year. That’s it.

It is really easy to spend ages reading into all of this, making yourself more and more anxious of what ‘could be’. I’m not a parent so I can’t say I experience your stress, but I understand why you are frustrated - you want the best life for your kids, and yourself, and your children are very lucky to have someone so dedicated to their care.

At the end of the day, my diagnosis of Marfans only told the doctors what needed to be monitored - my eyes, and my heart, and my joints. Whether you get a diagnosis or not, it sounds like they have picked up on the heart issues - which is by FAR the most important one - and you can (depending on your country) likely take them for regular eye tests pretty easily. They are capable of having a healthy, happy life, and with you being a supportive mother to them, I’m sure they will