I was just reading the People Magazine story on Lilly Stiernagle and Maya Albert and was very struck in the similarity to their syndrome and my daughter's. The geneticits called her syndrome Fomoral Facial Syndrome but it shares so many simiarities. This syndrome also has shortened or absent femurs but can also include cleft palate and other maxofacial deformities. My daughter's femurs are very shortened and bowed and she also had coxa vera of the hips where the head of the femurs enter the hip socket at the wrong angle. She also had the cleft palate, and a very severe club foot that caused her tibia and fibia on her right leg to be shorter than the left leg. She has had multiple surgeries to correct her cleft palate, club foot and coxa vera. She had endured two full body casts and many foot casts to help correct her club foot. She still wears a lift in her right shoe to help with the leg length discrepancy but it is hard to get a teenage girl more interested in fashion than function to cooperate with the shoes needed for a lift. We are now proceeding with the leg lengthening of the tib and fib on the right leg but we were very interested in getting an opinion on lengthening her femurs also and we have seen this Dr. Pavey's name come up quite often and would love to hear more about him from those that have had a history with him.
I know Taylor does not have PFFD but is seems like her syndrome and PFFD are very close cousins.
Both Taylor and I (Angela, her Mom) are very heavily involved with our Children's Hospital, I am on the Family Advisory Council and Taylor is on the Children's Youth Advisory Commitee. I would highly recommend similar groups to anyone. They give great advise and support to anyone needing to use hospital facilities.
I would love to answer any questions anyone might have about the journey they are going through.
Comments
Taylor
Hi Angela,
i'm glad you left a post on here. I'd never heard of Fomoral Facial Syndrome until reading your post. I'll have to look it up on the internet.
Although you say she hasn't got pffd, i think that sometimes you do get cross-over with more than one condition/syndrome.
An example might be Alison Lapper, the British artist. It is well documented that she has Phocomelia, born with no arms and shortened legs, but looking at photographs of her, there was the huge marble sculpture of her pregnant in Trafalgar Square, London, seeing her legs i'm convinced that she has bilateral pffd, with fibula hemimelia, same dimples on her shins, as i had. I could of course be very wrong.
I've got bilateral pffd, with fibula hemimelia & no left lower arm, and am a through knee right side amputee since 9yrs old and full-time wheelchair user since 12yrs old.
I'm not a doctor and by no means an expert, but i don't think it's unreasonable to hypothesize that you have more than one thing.
Just an idea.
Take care,
Dave Bailey
Taylor
Hi Dave:
Taylor is my daughter she is now 15 years old. She has had thirty plus surgeries but we know she is very lucky to be walking and have her mobility. Her syndrome has various ranges from shotented femurs to none at all.
She has one more surgery ahead of her to lengthen her one leg but she is not to receptive to the idea right now.
I would love to send you the People article I referred to.
I have a scanner at work and I could e-mail it to you.
Thanks for the reply.
All the best to you.
Angela Sparling
similar
Hi-
This is Jenny, Lilly's mother. I was wanting to post saying that when we were pregnant we were told of the condition "Femoral Hypoplasia Unuaualy Facies Syndrome" This is the condition they thought it was until she was born then that was thrown out and PFFD bilateral class D is what we were told.
They too were similar conditions...not sure if this is similar to your daughters too?
-The Stiernagle's