One more hereditary WWYD question

January 8, 2009

I'm the mother of Emma, who had the tethered cord surgery back in

May. Hers was a thickened filum, one that didn't show up on MRI.

Since the surgery she is 100% improved.

This question however, is about her younger sister, now 20 months

old. She has a sacral dimple (that doesn't go anywhere) and crooked

butt crack. She's never had a UTI (that's how Emma started) they did

a renal and bladder u/s but so far she looks normal (no

hydronephrosis, although Emma didn't get that till age 2 1/2). She

does however have chronic constipation. So now they're putting her

on a daily laxitive. She also now has failure to thrive, like Emma

had. (Not sure if that is related or not).

All her Dr.'s say that we should keep an eye on her for more symtpoms

but they wouldn't rush into an MRI b/c infants/children need general

anesthesia for it. We just saw a GI Dr. last week though and he says

he thinks we definetly should be concerned about her having it and

she SHOULD at some point have an MRI.

So my ped today said maybe we should call our neurosurgeon and

explain what's going on (the sacral dimple, the crooked crack, the

constipation and now the FTT) and ask how far we should let her go

till we do an MRI. Like wait till she gets a UTI? Wait and see if

she develops walking symptoms, etc.

My question is to be blunt: Do you all think she could have this

too? Or do you think this is mommy paranoia since one child had it

so I'm going to think she has it too?

Would you want an MRI now with no real symptoms, or would you be

content to just wait till she got older?

Thanks!

January 15, 2009

I would want to get her evaluated for it. There is a hereditary component

to NTDs. On the other hand, if she is not symptomatic at this time (aside

from the constipation), you may be able to do some watchful waiting. I guess

one question you have to answer is --- if they did the MRI and found a

tether, would you do surgery as she is not symptomatic or would you do

prophylactic surgery to prevent problems? If your answer is that you would

monitor closely for any changes (which it sounds like your MD is doing),

then perhaps getting a MRI to know 100% yes or no is not so critical. Its

not like there is anything you can do throughout her life to prevent the

tether from becoming symptomatic. But if you would want to have prophylactic

surgery regardless if she was symptomatic if a tether was found, then I

would push for the scan sooner than later.

That is how I would approach the problem. Try to stay positive. Even if she

has TC, no everyone will ever experience and symptoms from it. Or, someone

like myself, was able to live a totally normal life until I was 25. Another

thing to think about is that whether she has TC or not, it is already there

(or not), and nothing is going to change it now. If she doesn't have any

symptoms now , or minor symptoms that are easily managed, then it doesn't

serve a good purpose to spend time worrying about what might be. One day at

a time.

Best wishes,

From: tetheredspinalcord

[mailto:tetheredspinalcord ] On Behalf Of lpizzillo

Sent: Thursday, January 08, 2009 1:37 PM

To: tetheredspinalcord

Subject: One more hereditary WWYD question