About SWAN UK

SWAN UK (Syndromes Without A Name) is a project run by Genetic Alliance UK offering support and information to families of children with undiagnosed conditions.

The support group Syndromes Without a Name (SWAN) was formed in 1999 by the grandmother of a child with severe developmental delays, but no diagnosis for her condition. Over the following decade SWAN provided support and information to numerous families and saw its membership rise to 1300 members. Close links were formed with a number of health and social care professionals in the UK and with similar support groups abroad.

In 2009 the group’s founder was advised to give up her role co-ordinating SWAN because of health problems. As most SWAN members were parents of children with severe disabilities, there was no-one able to take over. With minimal resources the group faced closure and has not been operating for the last 2 years.

Early in 2010 Genetic Alliance UK secured funding to ask families affected by undiagnosed conditions to identify their priorities for the future work of the charity Syndromes Without a Name (SWAN). 149 surveys were completed and 15 interviews conducted with parents, medical professionals and staff members of other voluntary organisations.

Key findings were that undiagnosed families experience difficulties accessing help and support from various services including, health, educational and social. Many parents reported feelings of isolation, frustration and disappointment. A general lack of empathy and understanding was felt by the majority of participants. The creation of a specific supportive service was endorsed not only by families of undiagnosed children but also by professionals and staff members of other voluntary organisations.

In 2011 Genetic Alliance UK secured funding from the Big Lottery Fund to employ a full time coordinator for 5 years to re-establish the SWAN support group. Based on the needs identified during the consultation, 3 aims were specified:

1. Develop a community of families with undiagnosed genetic conditions for mutual support and information sharing

2. Develop a network of health and social care professionals with expertise in undiagnosed conditions

3. Increase awareness and understanding of undiagnosed genetic conditions

In May 2011 the SWAN UK coordinator started in post.

The origins of SWAN

A Grandmother’s Story

 

As soon as she was born I knew something was wrong.  She was the colour of a pair of jeans and her features didn’t look right.  My immediate thought was ‘My God, she’s a Downs Baby’

She was taken away and given oxygen. We later discovered that during this period there was a ‘crash call’ as she having difficulty breathing but we were not informed of this.

She wouldn’t feed – vomiting and turning blues after a few mils of milk but this was ‘normal’ according to the staff.

At about six days old she was transferred to the Special  Care Unit and were told she had a heart problem. She was transferred to a CHildren’s Hospital and underwent surgery for a hole in her heart at 9 weeks old.   Development would be delayed because of the surgery we were told. The staff were exceptional and gave us very bit of support we needed. As soon as we arrived on the ward my granddaughter was designated a nurse who would greet us and fill us in with what had happened.  The doctors too were so kind and patient and we can’t praise them highly enough.

At about 8 months old there were no signs of development and she was referred to an assessment unit where we discovered she was visually and hearing impaired.  She was registered as being deaf/blind. What a shock this was and why had it happened?  We gradually came to terms with this and accepted that she was not going to develop like most children.

My granddaughter than began to have episodes of turning blue which we thought was connected to her heart problems but this was not the case.

These eased off and then she began to have very severe episodes of vomiting which could last  up to 10 days at a time.  We spent a lot of time in hospital without getting any real answers as to why she suffered like this. We couldn’t leave her because she couldn’t let anyone know she wanted to be sick and could not turn on her side.  She was unable to eject the vomit without a major effort and was in danger of choking. We finally found out that she has little or no peristaltic movement* in her digestive system and she now requires suppositories and enemas on a regular basis.

The cyanotic episodes returned and she was finally diagnosed as having epilepsy.  In addition to this she remained unable to walk or talk or to help herself in any way at all.

We had visits to a neurologist and then to a geneticist. This latter visit was less than productive. The geneticist seemed to have made up her mind what the problem was before we even got there.  Because she was so fair, blood and hair was taken for testing.  After about eight months I phoned to see if the results were available and was told ‘If i ever see her again . . ‘ I asked if she meant ‘when’ and was told ‘No’.  She didn’t plan to see us   had not told us.  It was only because the local media were following my granddaughter’s story and contacted her that she agreed to see us again and we asked for a referral to another specialist hospital.

Here we were gently told ‘You do realise you may never get a diagnosis and there are an awful lot of you out there’.  The initial reaction was surprise.  We had thought we were the only ones in this situation but obviously it was not so.

The full realisation doesn’t dawn immediately.  I don’t suppose that there is a day when it does.  We kept saying things like ‘well next Christmas she will be able to play with her toys.’  It’s a gradual acceptance that this is not going to happen but that small spark of hope always continues to burn. There is also a sense of disbelief and a frantic search for answers begins but again, a gradual realisation and acceptance sets in.  At no time were we told that counselling was available.

This was a terrible shock as we now had no guidelines as to what the future held for her, or indeed, if there was a future for her.  Our Health Visitor was a tower of strength at this time and she provided a great deal of support for us with referrals and helping with a multitude of forms which had to be filled in.  Our GP’s most helpful suggestion was to ‘boil fish heads and make a soup t replenish her missing / damaged brain cells.’ He also told my daughter to put her in a home if she couldn’t cope.  This was because we called him out on two occasions when she had turned blue.  We changed our GP.

Our doctor told us, ‘The end may come like falling off a cliff and there is nothing we can do to stop it – but it might not happen!’ How do you live with this? To watch a child suffer and no way to help?

The tests went on and on and always that little spark of hope burns a little more brightly for a short time.  We never heard the results of many tests – in one case we were told that the samples must be in a laboratory somewhere, possibly Belgium.  On another occasion we were told that the samples had deteriorated while waiting to be tested.  In fairness I have to say that most of the test results were given gently, the above comments being the exception.

Following Dolphin therapy in Florida, my granddaughter did begin to use what little vision and hearing she had and is no longer registered deaf / blind.  She could now sit up and would ‘bum shuffle’ across the floor.  Her epilepsy is presenting major problems at the moment and following a severe bout four years ago her condition has deteriorated. She no longer shuffles around or sits up.

A short time ago (please note his was written a few years ago) my granddaughter was unwell and was admitted to hospital. We were told she had an infection although blood ad urine tests were normal and she was subsequently discharged.   A week later she turned blue.  As we have open admission at our local hospital we phoned to say we were bringing her in.  For the first time ever there was no one on duty who knew us.  The nurses treated us with veiled contempt as ‘fussy parents’ and we were told that the doctor was going to a lecture and that her colleague would see us after she had delivered a breech baby.  An EEG the following day revealed that her epilepsy was in status* and probably had been for over a week. I was told later that another 24 hours and she may not have survived.

She has now developed scoliosis and her epilepsy is once again out of control and awaiting surgery for a VNS*

At 16 years old (this was a few years ago) she cannot talk or walk. She cannot chew food although she has a good appetite on the whole.  If she is in pain she cannot tell us and we have   guesses – first of all, ‘is she in pain?’ and secondly, ‘where is the pain?’

Tests came back negative or normal. A defect on chromosome 9 has been discovered but no one knows where the extra material has come from and we were told ‘she is not a typical chromosome 9 child’. Whatever that means.

My granddaughter has survived on medication from 1 week old . . for her heart . .for her bowels . . for her epilepsy . . where will it all end? No one can tell us.

The main issues we have found when dealing with Doctors and Nurses is them dealing with the unknown.  We have seen looks of panic on the faces of medical and nursing staff when we tell them there is no specific diagnosis.  They can’t go away and read up on it or look it up on the internet so they tend to walk away.  One of my granddaughter’s pediatricians would bring her students to see us and would tell them they may get a child like her in their exams.  They looked terrified at the prospect.  Training for both medical and nursing staff MUST include how to cope with these unknown factors.

Please don’t be afraid  to ask the parents and to talk about the child’s needs.  We are not neurotic fusspots. Many of us are as well qualified in our fields as you are in yours. We deal with the child each day and are aware of the changes which you don’t see.  Please listen to us.  D be afraid to say that you don’t know.

The worst part is not knowing why these things have happened.  Would anotherchild be affected, perhaps this generation or the next?

There are no answers for us.

No light at the end of our tunnel.

If you have a diagnosis you are on some sort of pat – perhaps not always clealry defined but a path.

We are in a swamp and no-one throws us a lifeline. It is rarely a case of something getting better, rather something else is wrong.

There is also not being believed.  People tend to think that medical sciecne has all of the answers so we are uncaring people who have not bothered to find out or are perhaps fraudulent in our claims.  My granddaughter was refused benefits as ‘she did not fit the criteria’.  It took a long time to sort out causing more stress in my daughter.

We take each day at a time.  My gradndaughter is in special school and is cared for by her mum at home but she is growing up and what then?

For us each day is a fight to get what she needs. We have seen children less disabled but with a named condition get equiment and support easily whist we have to fight and prove our case over and over again.

It’s a fight to come to terms with not knowing, not having answers, not being believed.

The worst fight of all is coping with seeing her suffer and not being able to tell us what is wrong and how she feels.  It has had an effect on us and in some ways made us stronger. When her medication is changed her mum always asks for possible side effects to be written down. It doesn’t make her popular but as she says, she has to deal with this.  We ask far more quetsions now and we are fighters where we used not to be.

There are many undagnosed children like my grandaughter. Families left without answers and enduring what we go through and yet most people do not know we exist. Many families suffer verbal abuse from the general public becuase of this.

I have spoken to many parents parents of undiagnosed children and the vast majority feel they have been left to fend for themselves.

It is because of my grandaughter Syndromes Without A Name (SWAN) came into being.

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