Infant missing milestones

[jojo_991]

Hi,

My daughter was diagnosised with HCM while I was pregnant. She is doing amazing and in fact her heart is much better than they had thought it would be. We've been tested by genetics and she does not have Noonans and so far they can't find any HCM type genes.

Anyway, I was just wondering if any of your infants missed milestones? She is 11 months old, not crawling, can't pull herself up or get into a sitting position (if I position her she can sit). They said she may have a mitochondrial disorder (they aren't sure) but they are waiting until she is 12mos to decide on the muscle and skin biopsy.

I'm wondering if this is common among these babies and do they catch up. Or is it probably a mito disease? Or Occupational therapist says she's at a 6 month old level developmentally. Other than the NICU for 2 wks at birth she has never stayed in the hospital and is not on meds. She's also tiny, 14lbs5oz at 10mos. Anyone have trouble with weight gain? Is this a life long issue with weight? Her cards seem to think her heart isn't causing her weight issues.

I am just hoping that some of you went through the same and the result. I really hope it's not a mitochondrial disorder. Or any advice.

Thanks,

[Cynaburst]

Honestly, it sounds like there is something more going on here than just garden variety HCM. All of the kids from plain old HCM families are usually developmentally on par with their peers....they just have added heart issues. I am not an expert in the related disorders, but it sounds like your child has a very complicated situation.

[EmilysMom]

JoJo-
Our daughter, who is now 15, also does not have typical HCM. We don't know what the underlying condition is yet either. She is not Noonans. Mito diseases have been suspected but not found.

Our daughter missed milestones, but just barely. Never enough to cause a diagnosis until we found the HCM last year. She sat and crawled late. Late enough to see a neurologist, who told us she was fine. Her growth curve however was pretty normal until she was 12.

I don't have any answers for you, but we have been dealing with the frustrations for a year of no real diagnosis. The HCM heart seems to be a symptom of a different underlying disease, and we don't know what yet. Our daughter also has an optic nerve disorder.

All I can suggest is to keep good records of all her milestones and keep following up with the specialists. Are you seeing a geneticist? Have they done karyotyping?

Genetic diseases can be so variable, things like mito diseases are difficult to diagnose. I wish I had more to tell you, but we are still working through this (and likely a different problem) ourselves.