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blueonblack

Hi, ladies.  I've been lurking this board for awhile but just joined today.  I know I haven't given anything to this community yet so I understand if people aren't lined up to give to me.  But I am feeling so lonely and isolated in my situation that any similar experiences or words of wisdom would be appreciated more than you know.

 My daughter was born nine months ago with "multiple congenital anomalies".  There were issues with miscarriages and some things that happened while I was pregnant that in retrospect were signs of genetic issues---but they could all be explained in other ways so we really didn't know until after she was born. 

A small summary of issues:  imperforate anus, PDA, VSD, mismatched ears (both look like normal ears on their own but one has more cartilage than the other), crooked nose, line on lip that looks similar to a cleft lip repair, wrists that hyperextend like they were trying to touch pinkies to arms,  lax joints, torticollis, very poor eating and sleeping, hip dysplasia.  After several hospitalizations for pneumonia it was discovered that she had severe silent reflux--the child never spit up but she aspirated.  She had a fundoplication and a feeding tube placed for supplemental night feeds.  She has failed hearing tests (although she very obviously had some hearing) but recently had tubes put in and we are hoping that will solve the problem.  She also has poor muscle tone and extra wrinkles in her skin that a nurse once called "syndrome-y".  Another nurse once told me she had a syndrome look to her, but I don't know what that means except for the crooked nose and line in her lip.  She looks just like my niece other than that.

The millions of appointments have slowed somewhat.  I am sure I'm not the only one here who has cried in the car because I checked one appointment off our list but had to schedule two more.  Our specialists have now either dismissed us or are having us "come back in two/four/six months".  We have weekly OT/PT for torticollis and gross/fine motor delays and ST is available to us for feeding issues.  She is actually making pretty good gains now that she isn't being hospitalized every few weeks.  The idea of catching up with motor skills isn't completely impossible, although it would be a long time still.

The genetics panel that they run to find the big things showed everything normal.  The geneticist had some ideas on diagnosis based on paperwork but then when she saw dd she changed her mind.  She has no idea where to start testing and she said there isn't enough blood in my dd's body to just start randomly testing.  We are going back around dd's first birthday.  We will likely not get a diagnosis. 

My husband is great but I really feel so lonely.  I know I should just enjoy her for who she is (and I really do) but the anxiety of not knowing kills me.  Will she be mentally handicapped and when will we know?  What other medical obstacles will she be forced to deal with?  Can she have a normal life?  What if I got pregnant again--is there any chance of having a healthy child?  (Rhetorical--I know you don't know the answers.)  I don't know anyone who has had any issues except preemies that spent a few weeks in NICU and are fine now. 

Anyone who has a question mark where a diagnosis should be, I would love to hear from you.  And anyone who read my novel here deserves cookies and/or drinks.  

Assembly_Reqd

blueonblack:

My husband is great but I really feel so lonely.  I know I should just enjoy her for who she is (and I reall

amajane

Welcome! 

I could've written the exact same post when my DD was 9 months old. Now she is 5 years old. And the journey from there to here really has been quite remarkable.

My DD also has unknown genetic syndrome. We are in a study with

tarajayne

Welcome!  It is so very frustrating not knowing. All of  doctors brushed us off until 6 months, then he didnt get his dx until 8 months since it  so long to get into the specialists.  He is getting the help he needs finally now that he

Ash2015

blueonblack:

My husband is great but I really feel so lonely.  I know I should just enjoy her for who she is (

grbnik

Hello!  We are dealing with feeding issues here, and have no cause for it (although, have been hospitalized several times as well due to dehydration, high temps and bad illness, etc).  The waiting is killer.  Just trying to enjoy life in be

blueonblack

Thank you all for your responses.  I feel welcomed to this board and I would like to participate more.  I tried to repsond indivicually to each repsonse but I could not get it to work.  This messageboard is different from any I've used.<

jbranden12

Welcome! I am new here but my daughter suffered severe damage to her brain as a result of her premature birth and we are also working towards an unknown future. My greatest challenge and goal is living in the moment with her.