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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

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Original poster

Spina Bifida and Cleft Lip/Palate

12 replies

HannaMartinez · 31/01/2021 13:33

Hi everyone!
I had my 20 week scan and sadly my baby girl has been diagnosed with Spina Bifida (the doctor said it seems to be closed/occulta but also seems to be tethered). On top of this my baby has also been diagnosed with Bilateral Cleft Lip and Palate.
The doctor is concerned that there are two abnormalities and these could be related with chromosomal/genetic abnormalities.
We have been offered termination and we’re really devastated.
Has anyone had a baby diagnosed with these two abnormalities or one of them? Xx

OP posts:

Penguinpinata · 31/01/2021 13:38

Hi Hanna - that sounds really tough, I’m so sorry. Have they offered you an amniocentesis to check for wider syndromes? Our baby has a unilateral cleft lip and palate, which they actually picked up at my 12 week scan. There were some further issues they then detected at the anomaly scan so we had an amniocentesis and second anomaly scan to rule anything further out. My hospital were very reassuring about the cleft lip and palate situation - I know others who were offered a termination in that same case - as they said that was all fixable, although I’m afraid I don’t know anything about the spina bifida side and what that entails. I’m really sorry you’re going through this.

Original poster

HannaMartinez · 31/01/2021 14:34

Hi, thank you for your comment.
Yes, we were given the option to do amniocentesis and we did it last Monday. We got the first resultas back (which were looking at Down, Edward and Patau syndromes) and these are all clear, however we are waiting for the second results which will look at additional chromosome/genetic abnormalities. They said these results will take a minimum of 2 weeks, so 1 week from today.
How is your baby doing with the cleft lip/palate? Did she/he had surgery yet? I hope all is going well xxx

OP posts:

thefishthatcouldwish · 31/01/2021 17:49

A close family member was born with SB. Totally undiagnosed until birth. They are a bright and funny individual who is not far off 18. They are currently studying for ALevels and has places in uni.

Their lesion was open and higher up meaning more paralysis.

www.shinecharity.org.uk/ is a good charity to look at.

MotherExtraordinaire · 31/01/2021 19:04

Personally and I know this is easy for me to say, the cleft palate is treatable. So though it's not the ideal we hope for, it's not incompatible with life and actually is treatable.
Likewise the type of SB is not hugely impactful www.shinecharity.org.uk/spina-bifida/types-of-spina-bifida#Closed
Given this, I'd be continuing. Even with perfect scans, conditions can still be present, so at least you'd be armed with the knowledge needed to ensure they get the best treatment and to advocate for them.

Good luck.

Original poster

HannaMartinez · 31/01/2021 21:21

@thefishthatcouldwish thanks for sharing, it gives me hope. Does she/he have any symptoms at all? My doctor said that our spina bifida starts at L2-L3 xx

OP posts:

Original poster

HannaMartinez · 31/01/2021 21:28

@MotherExtraordinaire thanks for your message xx
We are not very concerned about the cleft lip/palate to be honest, as we are aware nowadays it’s treatable. However, we are concerned about the Spina Bifida, although it seems to be closed, there is a visible lipoma and the spinal cord is tethered, which really worries us.
It’s so hard thinking that our baby will have to go through all those surgeries for both conditions...

OP posts:

OddBoots · 31/01/2021 21:40

I have spina bifida with a tethered cord at that level, I had pain, leg weakness and continence issues throughout childhood but for various reasons O wasn't actually diagnosed until adulthood so the tether was obviously very tight and my legs stopped working and it caused chiari malformation. I had the release surgery at 30 and while it took a lot of work to recover I'm now mid 40s and life a pretty normal life. I still have pain and weakness but can walk and have learned ways to cope with my bowel and bladder.

Spinal bifida is such a variable condition, as your child has this picked up so young they are likely to have very successful surgery to release the tether before damage can be done.

I don't mean this to tell you one way or another what to do, that is a very personal choice for you, I just thought my experience might be helpful.

thefishthatcouldwish · 31/01/2021 21:44

I think with any disability is scary but seeing the super individual my family member is is super to see.

When born they had surgery to fix their legion.

They also have hydrocephalus so have a shunt fitted at about 14 days.

They are doubly inconsistent but after some clever operations at around age 9 they manage toileting just in a different way. Once they got the hang of it they were fine.

I know all that can sound very daunting but babies and children adapt well. Even though it’s very hard for the parents! I don’t give the SB a second thought now 99% of the time. As it’s the person I see not their disability so I forget to be honest!

My best advice would be to contact shine who will be able to offer support and advice before you make any decision. I know that shine but my family members mum and dad in touch with someone who had SB. It was good for them to talk.

Whatever you decide to do I wish you the best.

thefishthatcouldwish · 31/01/2021 21:45

Put not but

LittleTiger007 · 31/01/2021 22:38

I’m sorry OP what a difficult and devastating decision to be facing. I have not faced anything like this myself. I felt the need to simply tell you that one of my best friends from university has Spina Bifida and a bilateral cleft lip/palate. She has not let it hold her back in the slightest. With parents who love her she went to university with so much confidence that it was a lesson to me who had no such issues and yet was riddled with insecurity. She did well, had/has many friends and has subsequently got married and had a child of her own. She sometimes uses a wheelchair but sometimes gets around with a stick and she drives an adapted car. Please don’t feel there is no future for your child, with your love behind them nothing will hold them back.

PFin · 01/02/2021 00:42

I was born with a cleft lip and palate and it sounds like your aware its completely treatable and you lead a normal, healthy and happy life after surgery. In northern ireland it is actually avaliable to br offered an abortion if your baby has one, which is absolutely sickening. Im sorry I have no advice for the spina bifida and really only you can decide. I know how attached i was to baby at 20 weeks so to have to make a decision like that must be heartbreaking.

Nia18 · 01/02/2021 15:57

Hi! I have Spina Bifida, though I have a more severe form called Mylomeningicele.
Although I use a wheelchair full time and have issues with bladder weakness i am very happy and content with life.
I dont have any kind of carer, I drive, live with my partner, our 2 children and I'm pregnant with our 3rd.

This isn't to try to sway you in any direction. I think its an incredibly personal choice and nobody can know what's best other than yourselves, but I just wanted to reassure you that if you do continue with the pregnancy that disabilities dont always mean what they used to. The world is a far more friendly place to live with a disability now and there are less and less barriers to a 'normal' life every day.

I'm sure its a scary time for you right now, so sending love. Whatever choice you make is completely valid.

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