u/IndependentWestern30

Hi all,

First, I know, trust my son's doctors. I'm doing that, I plan to continue doing that, but I'm a mom, and my son is my world, so even when doctors try to be reassuring... I'm never really at peace.

My 5 month old son was diagnosed with HCM (MYBPC3- sarcomeric) at 2 weeks old. He is currently asymptomatic and non-obstructive, with a z score of 6. We've had a few scans at the Childrens Hospital, and they have gone "well." Good ejection fraction, good functioning, we have not started any type of intervention or beta blockers. Overall I was feeling pretty good about things (as good as I can).

We had his proBNP tested through bloodwork... it was 5,000. Yes 5,000. What the fuck. His cardiac team keeps saying no worries, we expected it to be high, everythings fine, he's doing well. Well thats not what the internet says. The internet says this is pointing to heart failure and his heart deteriorating. I'm having a really hard time reconciling this insane BNP score with what I thought his current state was. I'm devastated and can't sleep at night. What the fuck... does anyone have experience with this? Can anyone say something reassuring? I'm just upset. He's the happiest little baby and with this score I feel like a bomb was dropped on my head.

My son is 24 months. He's exploded in development over the past few months. At 18 months he scored about a 7 on the MCHAT and we had him evaluated for ASD. He didn't meet the criteria for a diagnosis. He now scores a 0-1 on the MCHAT at 24 months and has absolutely exploded verbally, socially, and he has a ton of interests and little hobbies. I'm obviously exceptionally proud of him, but there's a few things I continue to keep my eye on.

I know that the stereotypical echolalia red flag is when a toddler may say "do you want a cookie?" when they are requesting a cookie. My son doesn't do that, but he does have a lot of canned phrases he uses to make his points. He has plenty of examples of and uses of his own novel speech, but he also has many scripted phrases, for correct contexts. For example "that makes mama really sad" when I tell him no and he gets upset, or "watch 5 minutes of songs" when he wants to watch the Wiggles on tv, or "help me push the button" when he wants to press the garage button, or "I feel sad" when he's upset. How normal is this for a toddler? They are used daily. It's hard because he is capable of creating his own sentences (albeit, toddler sentences), so I'm never sure what to think. I don't have any experience with toddlers.

I'm on day 4 for both and like clock work, my stomach starts to ache after lunch. It's always fine overnight and after breakfast. But I'm in pain every day from about noon until 7 pm. Everything I've read says 2-4 days until you feel major pain relief.