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PFFD - lower limb deficiency

(11 Posts)
gingerbreadmam Mon 08-Jun-15 11:16:07

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 thanks

DeeWe Tue 09-Jun-15 03:48:15

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.

GrinAndTonic Tue 09-Jun-15 05:08:23

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.

gingerbreadmam Tue 09-Jun-15 07:13:01

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 thanks

DeeWe Tue 09-Jun-15 19:35:32

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. smile

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.

gingerbreadmam Tue 09-Jun-15 20:00:15

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.

DeeWe Tue 09-Jun-15 23:26:09

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?

gingerbreadmam Wed 10-Jun-15 07:25:37

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 thanks

DeeWe Fri 12-Jun-15 11:09:58

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.

gingerbreadmam Fri 12-Jun-15 12:28:12

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.

NervousNelly1986 Thu 16-Mar-17 18:14:18

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

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