You Have a Diagnosis Now What?

I was asked this question on a zoom call with AllStripes, talking about what happened when I first got my diagnosis, it got me thinking…
When I was diagnosed Jan 2021, I can only hope it was because of trying times of covid, but, I was bamboozled for a few hours and then left with an information pack that was all a bit useless and if you need us email here – then silence..

Google became my new best friend, I felt lonely, I felt unsure and was left wondering what happens next.

Information needs to be Patient Friendly

Yes, it needs to be factual but it also needs to be humanised.
This is one thing that I have felt has lacked all throughout my journey, is, that we are humans with feelings and very little empathy is given when news is delivered.
It can often be very clinical and very wordy, which to you and I can seem a little overwhelming, scary and leave us with questions unanswered.

We Are All Unique But We Are All Human

Each person will respond to different ways of news being delivered, whilst I am a factual person I do need that human essence and understanding.

Some will want bullet point info, some will want resources to go and look up things themselves so I understand that it can often be hard on how best to deliver diagnosis’s and also it will be subject to what information you are delivering too.

Everyone responds differently to being diagnosed. It’s not unusual to experience many powerful emotions.

Services Offered

If with the diagnosis comes services aside from treatment plans, like counselling, dieticians etc then I think giving patients information on how these services work, the time frame in which they can expect to be accessed and how to actually access them is needed.

Personal Experience – You Have a Diagnosis Now What?

So for those with a Fabry Diagnosis and wondering what next here are my resources & tips based on my own personal experience:

• Get an email address for a point of contact at your place of diagnosis. This is invaluable.
  Think of all the questions you may have and send an email and do not be scared to send an email.
• If you are into group support find a network group online that you can join.
  Social Media is great to connect with others going through the same thing or similar to yourself.
  It’s not for everyone – it’s not for me personally, but often you can dip into the group and use the search field to search something you may need an answer to.
  Facebook – Fabry Disease UK 
• Use the online websites that specifically support your disease – I found not much in the UK other than MPS Society that have a good selection of resources on the disease. Other websites I have used and found to be really useful are:
  Fabry Australia
  Canadian Fabry Association
• Learn about the disease yourself once you have had the time to process the information.
  The more you know about it the more armed you are to advocate for yourself and push for what you need.
• Form your own support team around you, people that you can talk openly to, people that can attend appointments with you to interpret some of the information given.
  (In Covid this was one the biggest things I missed not having any one with me at my diagnosis or any appointments)
• Understand what services you will require – Cardiology, Neurology, Nephrology, dietician, counselling etc ask questions find out where you will attend these services as not always at one hospital. build your little black book of medical expertise.
• What Treatment will you require? Medication, Intravenous, learn about the meds and any side affects you need to be aware of.
• Fight for you – I can’t stress this enough this is your life and you need to live it best you can.
• Do all you can for you outside of the NHS, diet, movement, sleep, stress management, fun, – I am in a fortunate position with my health & nutrition training but also financially to be able to access the help of a Functional medicine practitioner and now more recently a Therapist to talk through things with.
• Remember your diagnosis does not define you but it is a huge part of you and its ok to have rough days alongside the good days. Don’t be hard on yourself.

Claire xx