Well Done Kat! This needs to go out nationwide, it is informative and interesting and shows all the things that we SWAN families think and go through perfectly! Well done to everyone involved xx
Hi Kat, well done on a brilliant documentary, highlighting what life in the ‘grey’ is like, full of fear and hope. Can I ask why it has caught your interest? Is it an interest in genetics, or child development, or both? X
If I’m honest, I’ve been thinking about your question all afternoon, because there are so many reasons why I did this documentary.
The topic was something I stumbled upon. Last year I graduated with a BSc in Molecular Cell Biology so I often Google “genetics” to keep myself informed and find new research that interests me. In April, my Google results led me to the SWAN UK blog, and in turn, to other blogs by parents with undiagnosed children.
Some of the blogs invoked such an emotional response from me. One minute I was sad, then furious at the injustices being suffered by lack of services, and then each and every blog would leave me with a smile, as the parents finished by saying how their child had done something new, hitting a milestone that they’d never thought they’d reach, or just that despite the lack of support- they were so happy they had a beautiful SWAN, so they’d just keep fighting and hope for the best.
So, that got me interested.
I then started looking into the theory. I researched into the studies being undertaken- with the two mains ones being GOLD and DDD. I rang NHS genetics centres to find out how it all works behind the scenes- what equipment do they use? Why are children undiagnosed? Where are parents sent after they’ve run out of answers? And I was surprised at what I found. The intricacy of the science fascinated me- and I wanted to explain it to everyone else.
And also, I wanted my documentary be to worth something. I wanted it to have value and I wanted to enjoy doing it. I believed in those families from the first time I contacted SWAN. In fact, my first phone call to the parents lasted over an hour! AND we’d both said how it felt so friendly!
I enjoyed meeting all of the children in this documentary. I loved meeting their familes and, in some cases, their Grannies and Aunties too! And I hope to do more in future to help. Not just with undiagnosed children now, but I am starting to understand about different types of disabilities which I had never thought twice about before, so maybe in future, there will be some sort of career for me to work in science, media and with disabilities… Any ideas would be appreciated!
The documentary is so worthwhile, and touching, but not just because I’m biased, but because prior to becoming a parent of a SWAN I would have never believed that a child could remain undiagnosed- you tell yourself that I think otherwise the scary world of parenting would seem too vast, that despite numerous tests you could be no closer to understanding cause and effect.
We straddle both worlds in that we have some form of diagnosis with his kidneys, and yet it shows no variation on any of his nephrin genes. So what we have is symptoms but no understanding (good and bad) of an outcome or future, and no knowing whether it incorporates his other issues or are they something distinct.
I always try to remember that every child is unique, with an uncertain future. It just feels like we’re hovering above a trapdoor a little more!
Great documentary! And it really goes to show that a student documentary can, if you pick the right subject, really make a huge difference to a population who are very unknown.
Excellent documentary, its amazing what parents have to go thru and dont get general and financial support, just because there childs condition does not have medical name.
Ive just had to sit and watch this again as I think you have done such a brillant job Kat, and watching this reminds me that im not on my own. That there are other familys out there feeling the same, and there are people like Kat who do care. (By the way Kat was that phone call that lasted over an hour with me by any chance. x
Fabulous documentary Kat. Thank you for all the work you do for SWAN and for parents of children with other disabilities like ours. Keep up the good work.
Fantastic, why hasn’t this been shown nationwide on tv as previous people have said. Up until having my daughter I didn’t realise that children could go undiagnosed and I work as a TA in a specialist school!! I have been told we may never know but people don’t understand that it’s comforting to have that knowledge so you can prepare for the future. Thank you so much to you and swan I don’t feel alone. X
Your documentary is wonderful, moving and informative. As a teaching assistant in a special needs school and a co-ordinator for a special needs play scheme I have a lot of first hand knowledge of children with special needs and their families. I believe one of the most important reasons families need a diagnosis is so they can meet and support other families. For example, I do respite care for a girl with Rett Syndrome and the RettUK family weekend is the highlight of her and her family’s year. It is so important to develop and sustain good community links for families with children with special needs including brilliant organisations like SWAN and DDD so no one feels alone or unsupported.
Amazing documentary with lots of useful information, would like to see more in future.
Someone may interested on this Science and Technology Documentary – Free to use website that offers a various collection of science and technology documentary films that you can watch online.
Without A Diagnosis 
This is fantastic and very well put together well done and lets hope we get the word across
Fingers crossed!!
Well Done Kat! This needs to go out nationwide, it is informative and interesting and shows all the things that we SWAN families think and go through perfectly! Well done to everyone involved xx
Thank you! From the site stats, it seems its slowly making its way WORLDWIDE- but we have to keep that up!
Hi Kat, well done on a brilliant documentary, highlighting what life in the ‘grey’ is like, full of fear and hope. Can I ask why it has caught your interest? Is it an interest in genetics, or child development, or both? X
If I’m honest, I’ve been thinking about your question all afternoon, because there are so many reasons why I did this documentary.
The topic was something I stumbled upon. Last year I graduated with a BSc in Molecular Cell Biology so I often Google “genetics” to keep myself informed and find new research that interests me. In April, my Google results led me to the SWAN UK blog, and in turn, to other blogs by parents with undiagnosed children.
Some of the blogs invoked such an emotional response from me. One minute I was sad, then furious at the injustices being suffered by lack of services, and then each and every blog would leave me with a smile, as the parents finished by saying how their child had done something new, hitting a milestone that they’d never thought they’d reach, or just that despite the lack of support- they were so happy they had a beautiful SWAN, so they’d just keep fighting and hope for the best.
So, that got me interested.
I then started looking into the theory. I researched into the studies being undertaken- with the two mains ones being GOLD and DDD. I rang NHS genetics centres to find out how it all works behind the scenes- what equipment do they use? Why are children undiagnosed? Where are parents sent after they’ve run out of answers? And I was surprised at what I found. The intricacy of the science fascinated me- and I wanted to explain it to everyone else.
And also, I wanted my documentary be to worth something. I wanted it to have value and I wanted to enjoy doing it. I believed in those families from the first time I contacted SWAN. In fact, my first phone call to the parents lasted over an hour! AND we’d both said how it felt so friendly!
I enjoyed meeting all of the children in this documentary. I loved meeting their familes and, in some cases, their Grannies and Aunties too! And I hope to do more in future to help. Not just with undiagnosed children now, but I am starting to understand about different types of disabilities which I had never thought twice about before, so maybe in future, there will be some sort of career for me to work in science, media and with disabilities… Any ideas would be appreciated!
The documentary is so worthwhile, and touching, but not just because I’m biased, but because prior to becoming a parent of a SWAN I would have never believed that a child could remain undiagnosed- you tell yourself that I think otherwise the scary world of parenting would seem too vast, that despite numerous tests you could be no closer to understanding cause and effect.
We straddle both worlds in that we have some form of diagnosis with his kidneys, and yet it shows no variation on any of his nephrin genes. So what we have is symptoms but no understanding (good and bad) of an outcome or future, and no knowing whether it incorporates his other issues or are they something distinct.
I always try to remember that every child is unique, with an uncertain future. It just feels like we’re hovering above a trapdoor a little more!
Great documentary! And it really goes to show that a student documentary can, if you pick the right subject, really make a huge difference to a population who are very unknown.
A brilliant documentary!!! It really should be shown on nationwide TV!!!!
Excellent documentary, its amazing what parents have to go thru and dont get general and financial support, just because there childs condition does not have medical name.
Ive just had to sit and watch this again as I think you have done such a brillant job Kat, and watching this reminds me that im not on my own. That there are other familys out there feeling the same, and there are people like Kat who do care. (By the way Kat was that phone call that lasted over an hour with me by any chance. x
Fabulous documentary Kat. Thank you for all the work you do for SWAN and for parents of children with other disabilities like ours. Keep up the good work.
Fantastic, why hasn’t this been shown nationwide on tv as previous people have said. Up until having my daughter I didn’t realise that children could go undiagnosed and I work as a TA in a specialist school!! I have been told we may never know but people don’t understand that it’s comforting to have that knowledge so you can prepare for the future. Thank you so much to you and swan I don’t feel alone. X
Your documentary is wonderful, moving and informative. As a teaching assistant in a special needs school and a co-ordinator for a special needs play scheme I have a lot of first hand knowledge of children with special needs and their families. I believe one of the most important reasons families need a diagnosis is so they can meet and support other families. For example, I do respite care for a girl with Rett Syndrome and the RettUK family weekend is the highlight of her and her family’s year. It is so important to develop and sustain good community links for families with children with special needs including brilliant organisations like SWAN and DDD so no one feels alone or unsupported.
Amazing documentary with lots of useful information, would like to see more in future.
Someone may interested on this Science and Technology Documentary – Free to use website that offers a various collection of science and technology documentary films that you can watch online.