Problems, Please Help

[mikeyhos]

Hi,

My wife and I have been having several difficulties with our pregnancy and we were wondering if you had any imput or advice.

We first found many risk factors for a chromo abnormality. We took the CVS test and found that there was no Chomo abnormalities. So, that is good.

Here is what we are dealing with now:

As of week 18, the specialists have found:
-Possibly an enlarged bladder. Now thinking it might not be the bladder since it sits off to the side where the bladder shouldn't be. He said it puzzles him and that it might be something with the bowels/intestines, but not sure yet.

-Limbs are a few weeks behind

-Possible heart defect, going to see Cardiologist next week

-Curved Spine

Has anyone had similar problems to this? They are looking into different gentic possibilities, but can't put a finger on what is going on right now. Has anyone gone through this? Anyone that has had anything similar, please PM me or reply. We appreciate it. Thanks.

 

[Mrsmitch80]

Hi, my daughter has VACTERL. Each letter stands for a different abnormality and a child needs to have 3 to be diagnosed with it. It's quite complicated to explain but my lo has a missing kidney, the whole renal pelvis was swollen on 20 week scan, problems with her intestines, club foot with one leg shorter than the other and vertebrae abnormalities.

It's worth mentioning it to your doc as it's quite a rare condition and we were only given a name for it once we were at a different hospital after my daughter was born. The consultant who scanned me wasn't familiar with the condition. There's no chromosomal test that will show it up and no genetic link has been found yet.

Feel free to pm me, sorry you've had bad news, I know exactly what you're going through. Hope you get answers soon xx

 

[Mrsmitch80]

Sorry, forgot to say - cardiac abnormalities are also part of it but if you google VACTERL there are loads of informative websites xx

 

[mikeyhos]

Hi, my daughter has VACTERL. Each letter stands for a different abnormality and a child needs to have 3 to be diagnosed with it. It's quite complicated to explain but my lo has a missing kidney, the whole renal pelvis was swollen on 20 week scan, problems with her intestines, club foot with one leg shorter than the other and vertebrae abnormalities.

It's worth mentioning it to your doc as it's quite a rare condition and we were only given a name for it once we were at a different hospital after my daughter was born. The consultant who scanned me wasn't familiar with the condition. There's no chromosomal test that will show it up and no genetic link has been found yet.

Feel free to pm me, sorry you've had bad news, I know exactly what you're going through. Hope you get answers soon xx

Thanks for the info. How old is your little one now? Does your little one have any difficulties now?

 

[Mrsmitch80]

My daughter is 2 and a half and you'd have to look closely to know there was anything wrong. Her foot looks perfect and she has a small raise in her shoe to combat the length issue.

She has antibiotics daily to protect her single kidney and blood pressure meds just to control it as it can get a bit high with one kidney.

She had an operation to cut her spinal cord away from the vertebrae as it was stuck and has some funny shaped vertebrae but they're not causing any problems.

She had an operation on her bowels which involved her having a colostomy for 6 months and she suffers with constipation so takes laxatives daily.

It sounds horrendous but the meds become part of your daily routine, the ops were difficult but seem ages ago now. She is just a perfectly normal happy little girl who goes to hospital a few times and takes some medicine.

Hope this helps xx

 

[mikeyhos]

Thank you so much for the info. I will be sure to update you when we get more info.

Has anyone else had any experiences like this?

 

[TinySunshine]

Sorry to hear about what's going on. I haven't got anything useful to add, but I do hope everything turns out okay for you x x x

 

[mikeyhos]

Sorry to hear about what's going on. I haven't got anything useful to add, but I do hope everything turns out okay for you x x x

Thank you. Has anyone else had any similar situations as this? We are very scared!

 

[Mrsmitch80]

Please do keep me updated, I know how frightening and devastating news like this can be xxx