PFFD - lower limb deficiency

[gingerbreadmam]

Hi

Not sure if i have posted this in the right place but i am wondering if anyone has any experience of PFFD?

Had our 20 week anomally scan last week and some abnormalities were detected on the scan. After doing some research it seems our son may have PFFD selfdiagnosedatthemoment and i just want as much information as possible on the condition particularly from anyone who has any experience.

i have looked on the steps charity website and contacted them twice with no response as of yet. will drop them an email today too.

any information or support would be hugely appreciated.

i am having an amnio tomoro as the hospital want to rule anything else out (particularly the trisomies) but from what we saw in the scan and foetal medicine doctors opinion they are not likely.

TIA

Hi! Not quite the same but dd2 was diagnosed at the 20 week scan with " congenital amputation defect of the left arm below elbow" otherwise known as missing her left hand from about 1/3 way from the elbow.

The most common congenital limb loss (99%) is just that, nothing else. The other 1% has some genetic conditions ( usualy effecting all limbs on some way, which you can se on the scan), and some syndromes that can have several apparently unrelated issues.

The good news: Prosthetics are improving all the time, lower ones are pretty good at being functional.
The NHS wil provide what you need
Your dc will achieve much more than you ever think at this point they will.

It does depend on your limb centre as to how good they are and what they provide.
Steps, I found when I looked at their mag (many years ago) were quite depressing. Lots of complaints etc, however they may have changed.

You will get opportunities that you'd never have got otherwise too. Dd2 has done thing/met people my other two can only dream about.

It's not quite the same but a friend of mine was born with no arms. She studied law and accountancy at university and now works for the government doing some law tax thingy. She drives a car, texts faster then anyone else (with her toes), does open water swimming and just got married.
You will be amazed what can happen.

thank you so much. i think i really need to question this amnio.

i actually found steps very helpful yesterday they sent me some information about orthopaedic specialists and there is one not far from us so i think i am going to ask for a referral.

with pffd it does seem to be a link between conditions. my son has virtually no femur in his right leg, a missing bone in the lower leg and two club feet. i think the issue we will have is that the condition is so rare the hospital have likely never heard of it so i am going to have to raise it with them.

if it is pffd it does say its not genetic.

lovely to hear such great news about people affected by limb abnormality that really helps me. thank you for sharing

Hello again. I'm glad Steps were helpful. When your baby's older Limbpower is great (sports) for encouraging them to try different things.

Is it just the right leg that's effected with the missing bones? I had a look on a site about Pffd, there wasn't anything said about Club Foot though, so it's possible there's something else going on there.

You may want to locate your nearest limb centre. There are good ones and bad ones as always. Ours is excellent-we met them the week after the scan and they gave us such a lot of advice and encouragement-most of which I discounted at the time.

I don't know what exactly they will want to do to help. I think that they usually try and treat club foot by a brace/cast, but I don't know whether the missing bone will come first and change things.

Don't be afraid to ask questions. Your little one may be rare but they will have seen people with similar conditions even if not exactly the same.

hi deewe. it was on the steps sites info about pffd where clubfoot is mentioned. with pffd the main abnormality is the femur then in some cases the fibula is missing and in a lot of cases where the fibula is missing there is a clubfoot too. where there is a clubfoot present in 50% of cases both feet are affected and apparently boys are more likely to have these conditions.

i had an amnio today and a very detailed scan. everything else apart from a minor curve in the spine is perfectly healthy. the dr we saw said the clubfeet are sometimes linked to a curved spine so maybe two conditions going on?

from speaking to steps it sounds like the clubfoot would be dealt with first and the leg would be dealt with at a later stage however at the scan today we saw that the right leg is kind of crossed over the left leg and it looks like the knee is fixed. that could change things.

i have an amnio shelf and they are wondering if that has caused the problems. id be interested to know myself too tbh.

they are expecting the amnio will rule anything chromosonal and genetic out. just have to wait till thursday for initial results.

i really appreciate your support and it is worth having the information you have shared. the doctor has already prepared correspondence to the relevant specialists our baby will require and steps prvided the name of an orthopaedic specialist not far from us so when the time comes we will request a referral to them if possible.

That's fine. the site I looked on didn't mention club foot at all, but by the sounds of that it probably is connected.

The right leg crossed over the other may well be correctable with physio, I think I've come across a fused elbow being released with surgery.

I expect it's just "one of those things". It's natural to wonder if you've done something, but it almost certainly isn't anything you've done. It isn't anything you've eaten/taken, nothing you could have done differently in almost all circumstances.

I believe boys are more likely to have club foot. Girls otoh are more likely to be like dd2 missing limbs. Strange isn't it?

that is very strange! i have seen on a lot of sites that its mostly boys affected by the things going on with mine.

i hope your dd is doing well nowadays, certainly sounds like she is and has very supportive knowledgeable parents!

i really appreciate you sharing, thank you so much

Statistics for missing limbs is very interesting, I think I was told it is roughly:
1:2=lower limb: upper limb

And then for upper limb:*
1:2=boy:girl
1:2= right:left

*Although I think boys are more likely to have missing lower limbs and girls more likely to be missing upper limbs, but I can't remember who told me that. I don't think that it's as significant for lower limb in the ratio for boy:girl either.
Boys are more likely to have lost a limb in an accident by a huge factor though.

So the statistics are quite significant. It's almost as though the body recognises that more people have a dominant right hand and puts more effort into saving it. Although I do know of children who are missing the left hand, but would clearly have been left handed if it had been there and the other way round.

it's all quite fascinating when you look into it a little deeper isnt it? i wonder why it affects one thing more than the other? very strange.

Hello,

I'm not sure how active this thread still is, but thought I should give it a try.

I'm wondering if anyone can shed some light on their personal experience with children diagnosed with PPFD, especially in terms of the growth of your baby throughout your pregnancy. At what point did your baby's femur/limb stop growing? Or did it continue to grow but at a slower rate?

I'm 22 weeks this week and while our DD's right limb is measuring in the normal range (34mm - I've been measuring around a a few days behind from the start so was told not to worry), her left femur is only measuring around 16 weeks (21mm). In the big scheme of things, a difference of 13mm seems relatively minimal but when thinking about it in terms of scale of growth it is worrying me. We were told that her tibia/fibula are looking relatively normal but unfortunately she does have an inward-facing club foot.

Any help/insight would be appreciated! xx

Hello NervousNelly,

We also had our 20 week anomaly scan this week (actually 19w+3). We were told that the baby was in the wrong position to see the feet and after several different position the nhs advised that our baby had one foot substantially bigger than the other measuring a differences of 7mm. The baby also had its arm across the chest and the nurse was concerned that it hadn't moved and told us that it could be a limb defect.

We have been given an appointment to see a specialist to check for fetal abnormalities. We're very worried.

Has any one had anything similar that comes back with a reassuring result ?

Hi GL74, I'm so sorry for the late response! DH and I decided to take a mini-break away which really, really helped us come to terms with our decision and we have found a whole new sense of positivity as we continue through this pregnancy. I still have my moments of worry (I didn't realise my motherly instincts would kick in so soon), but sharing our situation with family and friends has only reassured us that we are surrounded by people who not only love us and baby, but that she will be fine despite whatever challenges may come her way.

Have you had your appointment with the consultant? How did it go? I can relate so much with what you must be going through. Not even 2 weeks ago, DH and I were in absolute bits having to come to terms with DD's situation. Rest assured that it is a good thing that you know as much as possible for you and your partner to make an informed decision - it's yours and only yours to make!

We are thankfully surrounded by fantastic staff at York hospital who have been nothing but transparent, kind, and quick on their feet with any additional referrals we have requested. I hope that it's the same case for you!

For our DD, we are dealing with a case of unilateral talipes, along with an isolated short femur - both on the left side. I've had around 3 scans since I was 20 weeks (I'm 24 this week), and while they have been distressing, we've gotten positive news each time. While the talipes and short femur are still there, there was a worry that her left leg wasn't moving below the knee, but the following scans proved us wrong. Then the consultant couldn't notice fully formed toes and this week we saw them wriggling about :) As difficult it is waiting (it got to me so bad that I had to take two weeks off work just for my sanity!), the further you go, the more they will be able to detect because baby's are growing at an incredibly fast rate at this stage. If anything, you'll want to know what you're in for before making any decisions.

Good luck with everything and please let me know how you're getting on!! xx

Hi NervousNelly,

No, we have our scan on monday afternoon. It has honestly felt like the longest weekend waiting.

A mini break could definitely help, it is my birthday next week too and my partner has booked a surprise tripped (planned a couple of
Weeks ago)

So pleased that you have got help and support around you and that you are receiving positive news each time. It is certainly a sigh of relief for you each time. I keep telling myself that technology isn't always so reliable and you can't change Mother Nature - if baby is in wrong position then the scan will show something different.

We so far haven't had the best treatment from the hospital and will be looking to go private. I have probably been doing the worst thing possible and googling all weekend. Just can't get my head around that all else is okay with the baby (completely normal) apart from suspected limb abnormality. My screenings came back v low risk, we have no family history of disabilities....

Since I am only 19w I am hopefull that the baby is still developing and any anomaly will correct itself..

Wish you good luck with your pregnancy. I will post how I get on on Monday xx

Hello I'm just popping onto the threadcto wish you both well.

I was born with unilateral talipes nearly 50 years ago: I had very good treatment and I've coped very well. I played all kinds of sport at school, was a good sprinter, and still jog (a bit) now. The only thing I can't do is proper breastroke leg kick!

Hope you both have good outcomes. I'm sure your babies will be super gorgeous.

Thanks SheilaHammond for the well wishes :) I'm so happy to hear that your talipes didn't really affect you physically. To be fair, I'm not much of a swimmer anyway and can't do a proper breastroke if my life depended on it!

For those watching this thread, I just thought I'd share a blog I came across earlier today. It was started just last month by a young woman who grew up with PFFD and it's just so great to see that she is doing well. It's also nice to have a present-day perspective of someone who has grown up with it. Most of the blogs I've come across are from parents, particularly from the US, whereas this girl is based in Birmingham, so she might be able to provide some insight into how things work in the UK and under the NHS in terms of support and treatments available :) I've sent her a DM and she responded right away and said she is totally fine with (trying at least) to answer the million and one questions I have!

apffdjourney.wordpress.com/home/