Friday, 29 April 2016

Teamwork is important...

When we first started our journey we had a lot of referrals to many different departments to have so many different tests to find a diagnosis. We were warned that it may take some time but they would make sure we had the support and input from various professionals. At the centre of it all at the beginning was the paediatrician. It was them who said "yes there is something wrong with your child and we need to find out what " . They make all the referrals to the different departments and at first I thought how lucky we were that everything about Roo's care was co-ordinated, despite having no overall diagnosis.

Every time we went to see the paediatrician she would spend a long time with us going over everything that's been happening since she last saw us, every appointment was then written in a report which on the back had a huge list of the various names of professionals who were involved in a certain part of Roo's life.

The different professionals Roo is under at the moment....

But as the years have gone by I am noticing small more and more tests came back either normal or abnormal but leaving the professionals stumped, some of them started saying they could no longer help as they didn't know what was wrong leaving us to deal with certain things on our own. We had to fight for certain services, equipment that would make life easier but we got there in the end only because we persevered and didn't give up being a voice for our son.

Sometimes we get referred to certain professionals who then say after the first appointment , " we don't know what to do for the best, his understanding is limited so maybe it would be best to wait till he is older or you get a diagnosis and then they will discharge us. The person who made the original referral would redo it again but the same thing would happen and we just end up going round in circles. If I could afford to go private I would, but alas I cant and I am not sure if the NHS would accept a report from a private consultation as Ive heard of other mums going down this route only to be turned away by the NHS professionals who probably have a grudge against private input.

While most of Roo's care is co-ordinated we are finding that when we go to certain appointments they no longer have the regular input from the others so we end up having to explain everything , any new issues, new problems etc.

As a parent of your child, you would expect to be informed of all decisions concerning your child and we have always been informed and given options that we could decided what we wanted for the best but lately even that is starting to disappear...After trying to get a repeat prescription and was denied saying that it had been decided that a break was needed, that we would need to wait till an appointment over 5 wks away to discuss it, panic ensued and Roo's health nurse who is fantastic in getting in touch with various professionals, making referrals etc who tried to find out for us the reasons behind this decision. She agreed that it was unfair that the decision was made without consulting us, she even hinted that they were stuck and no longer knew what to do with Roo. Where did that leave us? Ive cried , stamped my feet, complained etc but only time will tell if they will listen to me. Despite being told at the beginning of the year that he would remain on the meds until the next appointment due to personal circumstances with my problematic pregnancy and they have gone back on their word and done the opposite all because his sleep study came back normal. So instead of taking it easy during the last month of my pregnancy I am now constantly stressed, upset seeing the toll its taking on Roo and the rest of us as a family. Its so frustrating as just because he is yet to get a diagnosis doesn't mean that he no longer needs the medication, that he no longer needs that bit of support , that it doesnt matter how much of an impact it has on his quality of life.

Being undiagnosed should not be a barrier to getting support, it should not mean that parents who already have a lot to deal with have to spend time constantly fighting to ensure their child gets what they badly need. It should not be up to the parents to do all the running around , to be the one trying to co ordinate their child's care and support.

This year SWAN UK has a Big Ambition - they want to ensure that every one of their families has the support they need , when they need it. They want it to be known that being "undiagnosed" isn't always temporary as the genetic causes of some conditions may never be known. Every child regardless of whether they have a diagnosis or not should be able to receive high quality co ordinated care and support both in hospital and at home.

To achieve this Big Ambition they need funding as their main grants from the Big Lottery end this year. So raising funds is essential.
You can also donate by texting SWAN11 £ ( any amount up to £10 ) to 70070

Thursday, 14 April 2016

Past, Present & Future...


Its funny how much things can change in a year... this time last year I had written this post for Undiagnosed Day and I spoke about how we were still waiting for answers as the years were flying by, how we had so many questions about his future etc... Well shortly after writing this post , I made peace with myself in accepting that Roo is the way he is and if we never found out then at least we still had support for the time being. I think because we have such a great support network (most of the time and some only after a fight) despite his lack of diagnosis that I finally accepted that getting a label wasn't important as I now felt that as long as I had enough support from professionals then we could get through his childhood and felt encouraged by the tiny progresses he was making. I belonged to a fab support group, one of the only kind to actually support and advise parents/carers who were raising children who were "undiagnosed", that group as many of you are aware is SWAN UK.

It felt like a huge weight lifted to be honest that I was no longer obsessed with seeking the "whys & whats" and could just enjoy life watching Roo & his brothers grow up and marvel at all the progress Roo was making. We had a fab summer doing many things,

making many memories that are forever etched in our minds, little did I know that when the season changed to Autumn, that it would all change yet again and I would no longer feel the peace I felt.



One simple answer - I had fallen pregnant ( which is a miracle as explained in previous post.)

This had a huge impact on our lives, we had so much comments from others "how are you going to cope?" , "what if this baby turns out to be disabled too?". My husband and I spent a lot of time talking about the future, about how things would change due to this unexpected addition..We had the added issues of my health as my body doesn't do pregnancy and I rely on lots of meds and willpower to keep me out of hospital, to keep me and the baby alive. The one issue that worried us the most was if the child did have the same issues as Roo , how would we feel, how would we cope & how would our other children cope. We had a review coming up for Roo with his community paed so once the meeting was over we then told her our news and she was surprised but congratulated us and suggested that we had a chat with Roo genetic consultant and we agreed as there was one burning question at the front of our minds " what were the risks of this child having the same undiagnosed condition as Roo?". As you will have read earlier in the post that we announced Roo was going to be a big brother we were told the risks were 5 - 20% so quite low but the genetic consultant stressed to us that it was only a guess as Roo is unique and rare and the fact that his issues didn't arise till after the birth meant that there was no testing that they could do to prepare us. We could only wait and see....

No longer I felt at peace, I was frustrated at the lack of diagnosis for Roo, frustrated that we had no idea what his future holds so therefore we had no idea about how things would turn out for our new baby. I felt the desperation & longing for answers returning, I was watching the post hoping every day for the letter from the DDD study to say that they had found something, every time someone got a diagnosis I would google the rare syndrome to see if it was similar to Roo... Being pregnant and hormonal does not help I guess! I am now in my 3rd trimester of a very difficult pregnancy and as the birth gets closer and closer I find myself becoming slightly more anxious and worried about whether the baby is going to be OK or not and the impact it will have on the family if she does. Thankfully I am not the only swan mum going through this as there have been quite a few who are pregnant too and I know my feelings are normal as speaking to them they have the same concerns, the same risks. I am not alone in this part of my journey and that makes it a bit easier.


Sadly there is no crystal ball that we can use to see into the future on whether we will ever get a diagnosis for Roo . We can only do the "wait and see" that we have been told so many times over the years.. Only time will tell if the baby will become one of the 6000 children this year that will be born with an undiagnosed condition. SWAN UK is the only charity that is dedicated to supporting undiagnosed children like Roo.

On the 29th April 2016 it will be Undiagnosed Children's Day where many families and the charity will be trying to raise awareness to the general public. Why is this important? Simply because SWAN UK rely on donations and funding to being able to support its members. This year two of its main funding - the National Lottery and Big Lottery funding - is due to end this month so its essential that they raise enough money to carry on providing a unique service to families like ours. Also there are many families out there who may not be aware of that there is a support group for undiagnosed children so we need to continue to spread as much awareness as possible.

I will be sharing some blog posts by other swan mums and posts from SWANchildrenUK on the day to raise awareness. You can help by resharing those posts on your social media.  Or you can wear pink /blue on the day.

You can also donate by texting SWAN11 £ ( any amount up to £10 ) to 70070