Poland Syndrome Diagnosis Failures

Welcome,

We are PIP-UK, a UK based charity.

Raising awareness about Poland Syndrome. Sharing stories and insight to change the lives of others

pip-uk.org

Introduction

We are a UK charity raising awareness of a congenital birth defect known as Poland Syndrome, Poland's Syndrome, Poland Anomaly and Poland's sequence amongst others. Poland Syndrome is rare. Being a syndrome there are a number of features associated with this birth defect. The most common and visually seen are webbed or conjoined fingers at birth, the hand itself is generally smaller and there may be missing muscles or ribs on the same side leaving an asymmetrical appearance. Poland Syndrome is so rare that actual number of people born every year is unknown. The cause of Poland Syndrome is unknown. And due to its rarity this syndrome is often not recognised by medical professionals when carrying out a diagnosis. At PIP-UK we recently carried out a short survey, nothing scientific just asking people from various Poland Syndrome support groups the age they or a family member received a diagnosis. Our experience to date was a very mixed age range and we wanted to find out if this was a common occurrence. Today's presentation combines the results of the survey and includes a small amount of investigation and research done by the PIP-UK team.

PIP-UK | Poland Syndrome Charity | pip-uk.org

What have we learned about the number of babies born with Poland Syndrome every year in the UK?

In 2012 there were 729,674 live births in England and Wales and in 2011 there were 723,913 (source ONS)

The incidence of syndactyly is estimated to be 1 in 2000-2500 births (source numerous medical resources figures vary widely)

The incidence of Poland Syndrome in babies born with syndactyly is estimated to be 10% (source medical resources)

Therefore it can be estimated between 30-36 babies are born in the UK with Poland Syndrome in 2011 and 2012 and we can reasonably assume similar figures for 2013 and 2014.

Which means there could be up to 3 babies born every month with Poland Syndrome in the UK alone.

Okay we've established Poland Syndrome is rare but is it so rare that a diagnosis isn't made at birth. Well lets see what we found out from the survey we did and the additional research we conducted



We asked simply how old were you or family member when you got a diagnosis of Poland Syndrome and asked people to choose an age range. People were eager to tell us about their experiences of getting a diagnosis. Many went back to the doctor more than once or went to a different doctor or did their own research when doctors weren't able to answerIn fact we had so many wecouldn't fit them all in butthere is a small selectionon the next slide.

I was 10, my parents took to the hospital as they noticed that I walk with the right leg facing outwards when I walk,and I was diagnosed with Poland syndrome..I was diagnosed at 21 (even though I originally went for a diagnosis at 14)I was 19 weeks pregnant when we were told of a hand abnormality and we suggested PS but the diagnosis came when our son was 2 weeks old when we saw the specialistI knew something was wrong with my daughter at birth, but she wasn't diagnosed with left side PS until she was about 5. She had her first operation to separate 2 joined fingers 18 months ago. She is supposed to wear a splint at night to straighten fingers, but takes it off in her sleep. She will face surgery in the future for chest/pectoral area and breast. My daughter was diagnosed at 18 months. I happen to have a friend who has PS mildly who I haven't seen in many years but connected with via FB. She suggested we look at PS and I then researched it online before telling the paediatrician that I thought that was what she had. Eventually, after genetic testing, they agreed.My son was 18 months when diagnosed but mommy and daddyknew the day he was bornMy daughter was 5. It was finally the third doctor I took her to that took me seriously, and didn't just shrug me off. God bless that young doctor straight out of medical school. I had no idea it was PS, I honestly thought that her shoulder was broken during a complicated labour/delivery.I was diagnosed at a few days old. My Mother knew there was something wrong and refused to leave the hospital until she had a name for itI was born in 1974 and was lucky enough to be diagnosed at birth due to the doctor knowing about Poland Syndrome! Think I may be alone in that though!My son was diagnosed today he is 3 yearrs old he has digits missing on his left hand side and that was from birth, we noticed his left arm is shorter than right and he can't bend his little finger on left hand side.My son began tests at 18 months diagnosed at 2 he is affected left pec and shoulderMy daughter at her one year check up but I had been asking about her chest since birth and was always dismissed by the Doctor

Diagnosed in unusual circumstances

PIP-UK | Poland Syndrome Charity

A friend to the PIP-UK team was diagnosed at an airport by someone who happened to have Poland Syndrome and recognised the visual differences similar to his own.

A lady's sister was visiting with a geneticist to discuss family medical history. The young couple had decided to have a baby and were explaining the other sisters symptoms. The words Poland Syndrome were written on a card. This was the first time the lady in her 20's had heard of Poland Syndrome

Another young lady was visiting her mother on the oncology ward. The oncologist diagnosed the young lady on the spot whilst treating her mother. She too was in her 20s

I was 53 when I saw a programme on tv

On our webpage we share a story about a young lad who diligently researched his condition in the library until he found out about Poland Syndrome took this to his doctor.

Another of our survey responses included a man who responded simply saying 37 via Google

We were told at a young age it was common for most people to be missing a muscle somewhere in their body. It was given a name to me quite by random chance at age 40

I was always told it was due to having had meningitis as a baby wasn't until I saw my 1st plastic surgeon at 14 I was given proper diagnosis and relieved I wasn't the only person who had it

I diagnosed myself 3 years ago but knew from far back as I can remember

Diagnosis from around the web 2012 -2014


"We were never told that our son was born with Poland Syndrome. After his 1 week old check-up. Doctor told us everything looked wonderful healthy little boy!

One week later I noticed something wasn't right with his chest. I called my husband at work crying thinking the baby must have fell or something!!!!

We went straight to the ER not knowing what to think or what happen. After 3 hours of questions and really not getting any where. We learned that our son had Poland and we were sent home.""I too was unaware until last year and I am 35, my diagnosis was probably less apparent since I didn't have webbed fingers. Every doctor I have seem since I diagnosed myself (at least 6) had to look up poland syndrome to find out what it was and agree with me."During the survey some people suggested times had changed since the 60s so we went looking online to find out if this were true.These are the stories we found dated in the last 2 years "I'm 17 years old. I was just recently diagnosed with Poland Syndrome. I had no idea what I had before I was diagnosed.""I'm 22 and was diagnosed with polands syndrome 2 years ago,when i finally had the bottle to tell somebody.""I'm 16 and was not diagnosed until last year"What we found was enough to stories to make a whole book about getting the wrong advice, or getting no advice at all. We even learned about children who were told they would grow out of it! None of these stories are unique

What now then?

Well this proves there is a massive need for what we do. Educating

We know that Poland Syndrome is covered in Medical Training. But we also know from our membership to Rare Disease there are thousands upon thousands of rare diseases.

So how will PIP-UK make a difference? Our first goal was met to have a place where people can go to find out about Poland Syndrome. We have a website, we're on Facebook, Twitter, Tumblr and other places so the people who know they have Poland Syndrome will find us.

Well that's great but it doesn't solve the problem of diagnosis does it? No, you're right we need to get fund-raising so we can get in front of the right people and make a big splash about Poland Syndrome! This is a big problem and as the saying goes Rome wasn't built in a day!

You can help by donating money to us at http://www.pip-uk.org/donate share our stories on Twitter, Facebook or from our website. Share this slide deck

We need to get the message out there by continually sharing information and networking with the right people which is exactly what we're doing. Finding charities and organisations who are like minded and will help us spread the word.


THANK YOU FOR READING!


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Age of Diagnosis for Poland Syndrome(by pip-uk.org June 2014) AgeNumber of PeopleColumn E

At Birth11

0 6 months 12

6 months to 1 year old 4

1 5 years old8

5 10 years old 4

10 20 years old 10

20 30 years old 4

30 years or older 11

Health & Medicine

Poland Syndrome Diagnosis Failures