PFFD – let’s start at the beginning

PFFD – let’s start at the beginning

This time 3 weeks ago we were enjoying our last weekend as a family of 4. I was so ready to have this baby now I’d got to 41 weeks. Looking back now, I feel so silly for worrying about things like the tidiness of the house, and if all the washing was done. I guess I just wanted everything to be perfect, presuming that when baby arrived we would be straight home.

On the Monday morning, 20 days ago, our beautiful daughter floated into this world in an intense, extremely fast labour, meaning I only just managed to get into the pool in time to deliver her. You can read about it here.

She looked perfect to us, 10 fingers, 10 toes, nice and pink.

It was decided that, at 9am a specialist midwife would come and do all the newborn checks, and that after that we would be free to go home. We were so excited for this little one to meet her older siblings.

9am quickly rolled around and the midwife came to do her checks. Eyes looked good, mouth clear, all fingers and toes present, heart sounded good, tummy looked good, she passed her hearing test first time too.

Then, something became apparent. When looking at baby’s legs, the midwife could see one leg was looking a bit shorter than the other. As baby’s tend to have little froggy legs anyway, it wouldn’t have been noticeable straight away. However, once it had been pointed out, we could see it for ourselves. A paediatric doctor was called to have a look, and we waited. I was naively still very upbeat. Sure it was just one of those things that would have a logical explanation. That he would say that maybe she’d been so squashed in the womb that her leg needed time to straighten out.

The paediatric doctor came and did the same tests. He also confirmed that one leg seemed shorter than the other. Next, the orthopaedic consultant was called. We soon realised that maybe things weren’t going to be quite so straight forward. The consultant confirmed what we had seen. He did some measurements and Ottilie’s right leg was around 1.5cm shorter than her left. He wanted us to be moved up to the postnatal ward where it would be arranged for an X-ray and a hip ultrasound to be done. This is when things started to hit home slightly. Obviously there was an issue here, otherwise we would have been on our way home.

We were wheeled up to the ward. All the staff were so lovely, they even arranged for us to have our own room, as they knew we were originally down for an early dishcharge, so obviously staying over wasn’t what we’d envisaged.

We were then called for the hip ultrasound and then X-ray. The hip ultrasound went well, the dr confirmed that both of her hip joints looked normal, and had normal movement. Great!

Next was the xray- this bit wasn’t very fun. Having to hold out baby O’s legs so they could get a good enough picture felt so cruel, but thankfully it was over relatively quickly. After this, we saw the paediatric orthopaedic doctor. As soon as the X-ray image flashed up on his screen, I could tell things were definitely more serious than I’d anticipated. Ottilie’s right femur (thigh bone) was noticeably shorter than her left. In fact we found out later on that it’s only 60% of the size of the one on the left. She has a rare condition called ‘PFFD’ (Proximal Femoral Focal Deficiency).

Only 1 in 40000 are born with this condition. Basically, it means a shorter femur (thigh bone), or no bone at all. It can affect both legs or just one. Often the hips are affected too. Little O looks to have stable hips, thankfully.

My perfect baby, surely this wasn’t right? I felt numb. The doctor carried on talking whilst tears streamed down my face. Would she walk? Would she crawl? Would she be in pain?

Yes, she would walk, probably with the help of a special shoe on her shorter leg. She will probably crawl, in her own way. She’ll find a way to move around. No, it shouldn’t cause her any pain the way it is at the moment. We were told that things like leg-lengthening could be done once O is older, probably a teenager.

I broke down after being told. You go along your whole pregnancy naively presuming you will be presented with a healthy baby at the end of it. Things like this don’t happen to us. Of course I don’t want to sound too dramatic here, and we’re so fortunate that this is all we’re having to deal with, and that on the whole O is perfectly healthy. But the guilt is awful. I feel guilty for not being able to grow her properly. I know there’s nothing I did that has caused it, but still. She was in my tummy for 9 months. I should have done better. My body should have done it’s job.

We had to stay in hospital for a total of 3 nights. This condition can sometimes point to other issues, so poor O had lots of bloods taken. She also had a cranial ultrasound, along with an ultrasound on her liver and kidneys. Then it was an X-ray on her spine. Thankfully everything came back relatively normal.

So, the latest is that we’re waitIng on a an appointment with a specialist doctor at a children’s hospital. Hopefully he will be able to answer all our questions, and help us work out a plan. We’ve got no idea when this will be, but we hope sooner rather than later.

For now, we are enjoying our perfect, unique newborn baby. She is so special, and although we know we’ll have hard times to come, we’re trying to stay positive.

2 thoughts on “PFFD – let’s start at the beginning

  1. Hey there,
    Your story sound all so familiar to me!
    This is Yvonne from Hamburg, Germany and my little girl Laura was born in October 2017 with PFFD . Seems to be almost the same diagnosis, comparing your photos!
    We started Physical therapy when L. Was 4 weeks old.
    With the help of an Orthosis , helping to stabilize her ankle and knee and compensate the length difference: she is walking on her own now!!!😍
    We enjoyed the last year so much, since Laura is such a happy little girl!

    Don’t be scared to much, as nobody knows what’s going to happen next!

    I would love to hear from you and how your baby is doing!

    Greetings from Germany,

    Yvonne and Laura

    1. Amazing that she is walking on her own! I hope Ottilie is the same. I don’t think we will have any more appointments for a few months now, but I will keep updating the blog ☺️ thank you for commenting x

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