Author Topic: Recently diagnosed with Familial Mediterranean Fever, any others?  (Read 7821 times)

Wendy46

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  • Posts: 2
  • Reason for joining: Diagnosed with FMF
  • Diagnosed: 2013
Hi My name is Wendy, Myself and one of my sons have recently been diagnosed with FMF after years of mis-diagnosis and unnecessary procedures and treatments. I understand FMF is fairly rare in the UK but are there any other patients on this forum with FMF?
We have been very lucky as left untreated FMF patients can develop Kidney problems and Amylodosis. Our diagnosis was confirmed by blood tests sent to Dr Lachmann to check for an abnormal MEFV gene, We are now both on Colchicine and have been much much better.

JonesIOM

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  • Posts: 3
  • Reason for joining: Son diagnosed with Mevalonate Kinase Deficiency / HIDS concerns raised about SAA levels risk of Amyloidosis
  • Diagnosed: Symptoms for 2 years, clinical diagnosis 15/07/2015
Re: Recently diagnosed with Familial Mediterranean Fever, any others?
« Reply #1 on: May 16, 2016, 02:37:05 pm »
Hello,
 
Our son has a diagnosis for Hyper IGD Syndrome http://autoinflammatory.org/hids.php  (you can see our original post here: http://amyloidosis.org.uk/forum/index.php?topic=117.msg697#msg697 ).  By way of update he’s doing ok on the current treatment plan (a daily injection of Anakinra / Kineret).  Whilst his flares have not stopped (which was the hope) they are less server and do seem somewhat less frequent.  He will have been on the medication for 12 months in July.  He’s actually at Alder Hey this week for a check up to see how he’s doing etc.  Blood work has been normal since starting the Anakina and he’s a star now regarding the injections and most importantly he’s not been admitted to hospital. 
 
Traveling with the medication has been interesting – as the bags we bought  (they work well though https://www.amazon.co.uk/gp/product/B00XPPHOI8/ref=oh_aui_detailpage_o09_s00?ie=UTF8&psc=1 ) contain an integral probe / thermometer which on a X-Ray machine appears according to US and UK customs to look like a improvised explosive.  The UK guys actually took photographs to include in future training material nationwide!  One thing we found recently is Hilton Hotels will now no longer store medication that needs to be chilled in their fridges (for hygiene reasons).  We have been able to padlock the bag previously and they freeze the ice packs overnight and store the medication in the fridge.  Were figuring it all out slowly!
 
Best regards,
Tony

molfekk

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  • Posts: 5
  • Reason for joining: Patient diagnosed with a periodic fever syndrome
  • Diagnosed: Thursday 25th February 2016
Re: Recently diagnosed with Familial Mediterranean Fever, any others?
« Reply #2 on: May 16, 2016, 03:36:13 pm »
I'm 19 years old from Northern Ireland and have only very recently been diagnosed with a nonspecific periodic fever syndrome. They couldn't specify which syndrome it was as I'm sure you're aware that every gene simply cannot be tested. I currently take medication called colchicine which is used to keep inflammation at bay without any nasty side effects which fingers crossed seems to be working. When this all kicked off my parents and I were at our wits end wanting answers along with many confused doctors and I'm sure you and your family were the same. All of my symptoms presented as if I had meningitis-sore head, stiff neck, spiking temp and a very high heart rate along with a very high white cell count (all signs of a nasty infection). In between each attack I'm usually fit and healthy.
I was wondering whether your 'flare ups' are triggered by anything? And also how often your attacks happen? I've been keeping a diary of everything that I do everyday to see whether there are any trends. My doctors think this is a great idea so maybe it's worth doing the same yourself.
I was flown over to the national amyloidosis centre in February 2016 to get the diagnosis and there weren't any signs of amyloidosis which was a relief.
It's still quite difficult trying to get my head around all of this and I'm sure you're feeling the same but it's nice to hear from someone that is on the same boat. It'll just take a bit of time to get used to it all!
If you have any questions that are crossing your mind then feel free to drop me a reply.
Thanks,
Molly 

kirstie

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  • Posts: 2
  • Reason for joining: daughter just been disgnosed with perodic fever syndrome
  • Diagnosed: 23.09.2015
Re: Recently diagnosed with Familial Mediterranean Fever, any others?
« Reply #3 on: May 16, 2016, 03:46:22 pm »
Hi,

Thank you for updating us , it is very interesting to read, as we are just starting our path.

My daughter has been through the mill a bit, she was diagnosed at 5 with leg-calve perthes disease and has had numerous operations, she had a full hip replacement at the age of 17.
In the October before the hip replacement in December, she was in and out of hospital for about 2 months and was finally diagnosed with onset adult stills disease. Which meant more medication and hospital visits. She was put on methotrexate (which is a form of chemotherapy) and it worked for a while, until September last year when the flare ups returned with a vengeance. Her CRP & WCC was through the roof and she spent 3 weeks in hospital.
It was then discussed that she may have periodic fever syndrome. We was referred to the Royal Free and the appointment seemed to take for ages to come through, all the while the flare ups were coming thick and fast.
We were seen at the Royal Free, and I have to say I was really impressed with the set up. Everyone was so friendly and had time to listen to you. She is under Professor Hawkins who is so nice, caring and was ready to listen to us.
Monday last week she begun feeling ill, she went to the GP who gave her antibiotics, by Tuesday she wasn't any better in fact a tad worse, so I took her back they gave her more antibiotics, by Thursday she was in hospital having all different types of drugs and once again her CRP, WCC were through the roof, her LFT and KFT were abnormal. We were seen by the rheumatologist who said that its all down to her auto inflammatory disorder - as yet they are unsure what one she has! although FMF has been spoke about as well as a few others!!!
She home now thank goodness but we are back at the hospital today for more blood tests and seeing the doctor again.
They have mentioned that they will be putting her on some daily injections but I'm unsure what they are.

Sorry I went on a bit, but this is all new to me and I have no one to talk to who understands what my daughter is going through and how worrying it is for me as a parent.
My son has just beat cancer after 3.5years, and there is so much support help and guidance but I feel so lost dealing with this!!


All the best 

Best regards

Kirstie
« Last Edit: May 16, 2016, 04:05:04 pm by kirstie »