You are beautiful, no matter what they say...




I'm not really the biggest fan of Christina Aguilera but her song Beautiful has very special significance for me.  When Daisy was born she was immediately transferred to the neonatal unit at our hospital.  There was always a radio playing in the background during the long weeks she stayed in the unit, when she arrived it was just before Christmas and the soundtrack to those early days was all the festive favourites, but as the days wore on and the Christmas season passed (and the tree outside her window began to grow leaves) the songs were replaced with the regular mix that is endlessly played on Magic FM, London's easy listening station.  And this song seemed to be on a lot....

"You are beautiful, in every single way, words can't bring you down..."


From the moment Daisy was born people were judging her by her appearance, as she was whisked away from me to be stabilised in the neonatal intensive care unit Andy was waiting outside and practically the first words he heard from a paediatrician were "we think she's a dwarf" (now I know year's later that really that's not a very nice thing to say, the medical term is achondroplasia).

We could not see what the doctors could see.  None of our other children had been premature, they had all been a bit early but not prem, so we thought that Daisy looked prem and thought nothing more.  She was a tiny little doll, with a naso-gastric tube taped to her face and CPAP (non-invasive ventilation) mask making her already upturned nose even more upturned.  To us she was our little, vulnerable daughter.

Over the weeks she lost the mask, the lines  the tubes until only the naso-gastric tube remained.  She arched herself back and had a big fat tummy, we were concerned that the doctors were trying to push her feed volume too much and it was making her uncomfortable but they seemed to be more concerned with other things.

I had a sneaky glance at her notes one day (something that I now as a policy rarely do, I find it too disturbing), and the words "dysmorphic features", "coarse face", "funny ears" jumped out to me.....

The consultant took me into a side room one day and explained that they felt that there was more to Daisy than her prematurity and that they wanted to bring the genetics team in to review her.  Ahh, the genetics team, what a traumatic experience that proved to be.

Anyone familiar with a neonatal unit will know that there is not much chance for privacy on the ward.  Every conversation can be overheard, every reaction is up for public scrutiny, every emotion is on view - life in a neonatal unit truly is like being in a goldfish bowl.  So when the Geneticist came to visit Daisy, we realise with the benefit of hindsight that it may have been slightly more professional  of her to find a private interview room to have a conversation with us.  Obviously this did not happen so the intensely personal, private information we gave her about our family history, our other children and what she thought might be going on with Daisy all took place within the hearing of other parents, staff, visitors within the unit.  I'm probably paranoid and I doubt if anyone overheard anything but obviously, that was not a good thing for the Geneticist to have done and has not helped me in my ongoing mistrust of their profession through the years.

What was worse however was the way she discussed Daisy, suddenly all these words were being thrown at us that were completely alien to our feelings as her parents; dysmorphic features, coarse face, low set ears, flattened nasal bridge, epicanthal folds - WHAT? Are you saying that my baby is ugly and therefore not right??????

She went on to talk about some of the tests they had done to date, all of which had been negative.  She was thinking , however, that Daisy had features of a syndrome that she had come across for which there was no clinical test but only time would tell, it was a condition called Costello Syndrome.  She took photos of Daisy and disappeared....

We were left shellshocked, so our child's face didn't look right, she had funny hands and was too quiet so may have this syndrome for which there was not test so we would have to wait and see...

Of course if you read Daisy's Story you will know that following discharge from the neonatal unit we were only home a matter of weeks before we were transferred for our first admission to Great Ormond Street, under the Oncology Team.  They also decided to bring in the Geneticists (Costello Syndrome has a significantly increased risk for developing cancer so they wanted to know if Daisy had the syndrome), they also, very kindly printed me off some information on the Syndrome only available to doctors, complete with the obligatory clinical photographs of deformed hands and feet and children in their underwear stood next to a wall showing off hypermobile joints, ribcage deformities and scoliosis - nice reading for a Mother who had delivered a premature baby by emergency c-section only 3 months earlier, I was grateful for the luxury of an ensuite bathroom in which to have a good blub.

This time the geneticist coming to see Daisy was a Professor, apparantly he had written a paper about Costello Syndrome and had diagnosed several children, he was from Holland, his speciality was Dysmorphic Syndromes - great, another one who was going to focus on her face not looking right.  Daisy held the trump card though, as he was at the desk outside her room, going through her already copious notes, she smiled at me, her first ever smile, as if to say, "Don't worry, I'll show them!".

This Prof had a far better bedside manner and restored some of my faith in the Genetics profession.  He spoke to me, he spoke to Daisy, he asked my permission to examine her and he asked if it was alright if he explained to his colleagues in genetic terms what he saw and then at the the of it all he said that he thought is was more likely than unlikely that she had Costello Syndrome, but the most important thing was that she was Daisy and she was a little girl just like any other little girl.

We truly don't see these dysmorphic features the geneticists get so hung up on, for us she is just Daisy and she's the most beautiful girl in the world with a larger than life personality.  I can appreciate that people do look and stare and double take when we are out with her, sometimes because she is busy waving to them but I know sometimes they are thinking, "what a funny looking child".  She has been mistaken for a boy, I have had people just come up and ask "What's wrong with her" and I've had people ask if she is mixed race because of her afro hair.  I am very upfront when asked, I tell people she has Costello Syndrome (to which the response normally is - "I've never heard of that") and then I rapidly move the conversation onto how brilliant she is, how we love her mad hair and how she rules the roost at home.  I want people to see Daisy, this amazing, beautiful, brilliant girl, not a syndrome, not a condition.

In 2007, the days before TPN and intestinal failure, we were very fortunate to meet a great team of geneticists.  We flew to a hospital in Portland, Oregon and met with the Worldwide Medical Board for Costello Syndrome, the team who were working together to collate all the information on our daughter's syndrome and who had identified the gene mutation which lead to the breakthrough in understanding the syndrome.  It was clear that these geneticists has spent a long time surrounded by children with Costello Syndrome as they clearly loved them and saw them first and foremost as children and young people.  We were there as part of the Costello Syndrome Conference and Medical Symposium and for the first time we found ourselves in a room with about 50 other children who all looked like Daisy - there were varying degrees of hair curliness, but all had those same engaging eyes, funny walk, hands and the biggest smiles that are such a feature of the syndrome.  It was great to be surrounded by all these amazing children and their families and siblings and feel a hug sense of belonging where all of our children looked like they were related and part of a great big family. 

At the conference we also met another incredible human being.  Rick Guidotti is a former fashion photographer who is now the driving force behind an organisation called Positive Exposure.  They work with people who have a genetic difference, here's quote from their website;

 A recurring theme voiced by many individuals/families and organizations is the need to help physicians, particularly medical students and trainees, learn how to best meet the concerns of individuals/families with, or at risk for, genetic disorders.
Each individual living with a genetic difference desires to be viewed first and foremost as a human being with his/her own special needs rather than as a specific diagnosis/disease entity; currently available medical images illustrating genetic difference are particularly dehumanizing and dispiriting.

So Rick visits conferences and events like the Costello Syndrome conference, and photographs the children and young people there so that there is a bank of images available for the geneticists which reflect the spirit and individuality of the the child, that ensures that the medical person sees the child as a child not just their medical condition, that moves away from the awful clinical images we had to see when we were given that medical paper on Costello Syndrome.  Rick photographed the children at the conference, being children, playing, swimming, with their siblings - he showed the beauty of our children and that first and foremost they are just children.

Here's the link to the pictures he took at that conference http://www.positiveexposure.org/costello.html
You should be able to spot a particularly gorgeous, crazy haired little three year old - four years on she still loves the camera!


We are a world away from those dark days in the neonatal unit when we were bombarded with how our daughter looked dysmorphic, how she didn't look right, but that song has always stuck with me and I will often sing it to Daisy; 

"You're beautiful
No matter what they say
Words can't bring you down
Oh no
You're beautiful
In every single way
Yes words can't bring you down"


And thanks to slightly more enlightened geneticists and to people like Rick Giudotti, we are educating the world to look beyond the features and look at the person within.



Click on the link below to hear Rick talk about his work and why he does it

(Oh and there's a postscript to this story.  I've never been content to let things lie, so a couple of years ago I worked with the University of Glamorgan to ensure that the story of our first experience with the geneticist is now used as a case study for Genetics Medical Training.  Now hopefully we can educate those who are responsible for diagnosing our children to really think about the impact of what they are saying to parents)

14 comments:

Pink_hippy said...

Steph, I admire your strength, going through what you did and continue to go through and still trying to make things better for others.  I hope now that the 'professionals' are listening and finding ways to be more human.  Daisy is indeed a beautiful and very special child.  I miss working with her: I miss her great big grin and her enthusiastic communication and participation.  I always left her bedside, infected with her contagious smile :o)  I hope you are all well and send you big hugs from the other side of the world.

Anonymous said...

Your daughter is indeed beautiful, i LOVE her pretty curls although i bet you struggle to keep them looking so lovely :)

Beth said...

I think she looks beautiful.  As someone with a complex medical condition myself and a mother to a son with special needs I can understand how so-called professionals can sometimes be rude, unsupportive and cold in their comments.  I hope the University of Glamorgan's research helps other families in the future.

Mrs Shorties Mind said...

I am fairly new to reading your blog, so am not completely up on the syndrome that Daisy has, but when I saw the pictures I just thought what a lovely little girl, she has a lovely smile. I am glad that you have tried to make a differnce with how people are treated, as you say people are not their syndrome, no matter what it is, first and foremost they are a person.

Care4Children said...

Such a wonderful & well written blog! Daisy is truly beautiful & her smile just melts me! I was unaware of Turners syndrome before I read this, but you are doing an amazing raising the profile of this conditio

Cathy Chamberlain said...

everytime I read your blogs memories of my early days with Shane come flowing back. And it makes me wish I had the strength to speak out like you have. The doctors told me the same things about Shane the you were told about Daisy and I just stood there wondering who they were looking at, because all I saw was a very beautiful baby boy. And as for doctors needing to learn more compasion! I was at the eye doctors at Sick Kids hospital in Toronto and I over heard Shane's doctor recording a message. He said, " Shane is a 10 yr old mentally retarded patient", I know that medically this is true but make your recordings in private not right there where everyone can hear!

Hannah Patterson said...

Ugh - how horrible for you all.  I once told a lady that my sister was disabled and she said "Does she look it?".  I thought that was so coldhearted.  If I'm honest, yes she did 'look' as though she had disabilities but so what?  There was loads more to her than that.  How on earth could Daisy be described as coarse featured??  And she looks nothing like a boy!  And lots of people have curly hair like she has without it being anything to do with 'race'.  Oh, and judging from her baby pics she was the sweetest little thing.  I suppose geneticists do have to go on indicators of a condition, but the language they use could be improved.

Yvonne T said...

Steph, I haven't seen Daisy since she was a baby - she looks absolutely gorgeous.  Fabulous eyes,great smile, and for what it's worth, she looks very pretty to me! A very illuminating account, thank you.  Yvonne T

Sherice Bethel said...

I am so happy that i had a chance to write a heartfelt letter to daisy. daisy story touched my heart.  daisy is such a beautiful little girl.  daisy is such a blessed little girl.  I am so blessed that i can make a difference in a child life.  daisy loveing sweet little girl.  i am so blessed to find daisy at post pals.  seeing daisy smileing makes my day.  I know my letter made daisy smile too.  may god contiune to blessed this sweet little girl. daisy is a fun loveing little girl.   daisy and i will always post pals.  I love you very much daisy...

Mari said...

Gosh what a brilliant blog post. I read it all in one breath and can totally understand how those terms upset you in the early days. What a fabulous man Rick is to take on such an important role for these kids and families, who could do it better than him?
Daisy is adorable and she certainly has a fantastic smile - who could resist that? I bet she rules the roost, looks like she has a ton of character ;)

Jaime Powell said...

You and your beautiful daughter are an inspiration. --a friend in Texas

Annie B said...

I first saw Daisy dressed for the palace yesterday "liked" by a friend of mine. And I was captivated by her sheer beauty. I had no idea she had any form of syndrome. I saw nothing but a beautiful girl in a party dress which, bearing in mind your insightful comments about the way in which genetic syndromes are dehumanised by inappropriate photography, seemed like the most fortuitous of intorductions. Hoping her day was magical and knowing that your whole family are priviledged to share her life and generous to share Daisy with the rest of the world through Daisy's Angels. I feel honoured to be allowed to share a little.

Sim Reilly said...

she's super cute

Viki@hotmail.com said...

To me (and others) daisy just looks beautiful and doesn't look like a syndrome or different to her family, she just looks like she does like I look like I do. The only time I've ever thought about it is seeing photos of other children with costello syndrome which makes me think 'they look a bit like daisy'. I just see that huge smile you mentioned, that huge smile that you can't see and help but smile yourself x

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