National Amyloidosis Centre Patient Forum

Amyloidosis => Periodic Fever Syndromes => Topic started by: Helen-123 on June 09, 2016, 09:58:25 pm

Title: Please help
Post by: Helen-123 on June 09, 2016, 09:58:25 pm

Hello, for the last 7months my 5 year old daughter has been having endless tests to try and diagnose why she has been so ill. She is in the care of a Rheumatoid Paediatrician. Many illnesses have been ruled out. The latest "conclusion" the Drs have come to is that she has some sort of rare autoimmune disease.  Many really scary things I have never heard of have been mentioned but no diagnosis yet. I have been told that her serum amyloid A protein levels were raised, they have retested this week and said the results will be here in another week and that they wanted to start treatment as soon as possible to stop them rising any further. The consultant said if still raised he has to start treatment and kept mentioning amyloidosis. I have no idea what this means, except that it is a rare disease. I have looked at your website but found nothing about a young child having the disease. I have not yet been able to mention this yet to Charley's Dr. He wasn't available today, but I intend to keep trying. For al I know, he might have already been in touch with you as he is a rare diseases specialist. The weekend is ahead and I am waiting in agony.
Please can you help me?
I am desperate, very frightened and  my little girl is very ill.
Title: Re: Please help
Post by: Miriam Vered on June 12, 2016, 07:42:39 pm

Dear Helen,
I'm so very sorry to hear about your daughter's illness. It must be very frightening.
From what you've written it sounds as though your daughter's doctors may suspect a periodic fever syndrome. Periodic fever syndromes are extremely rare genetic diseases that are usually diagnosed in childhood.
In these syndromes, SAA (serum amyloid A protein) is measured as the most sensitive marker of inflammation / disease activity. 
You should be reassured that only a tiny percentage of patients with elevated SAA levels ever eventually develop amyloidosis, and usually only after many years or decades. A high SAA does not imply that your daughter has amyloidosis!
For the vast majority of fever syndrome patients, amyloidosis can be easily prevented by appropriate treatment.

For more information about fever syndromes, see
For more information about the periodic fever service at the NAC, see
You can ask your daughter's doctors to contact the NAC consultants to discuss your daughter's case in order to decide whether it would be appropriate to refer her to the periodic fever clinic at the NAC. They should contact either
Professor Philip Hawkins +44 (0)20 7433 2815/2816 or
Dr Helen Lachmann at +44 (0)20 7433 2804 or

Title: Re: Please help
Post by: Helen-123 on June 12, 2016, 11:24:58 pm
Thankyou Miriam, periodic fevers have been mentioned. But the consultants are all puzzled with her. As she doesnt seem to fit any one really. She has so many different symptoms, that can change on a weekly basis. We were getting a break from the fevers for days, sometimes a week or so. But for the last 3months she has had fevers every day. I am talking to her consultant this week and im going to pass on all the contact details for them to discuss my daughter and see whats next. Thankyou so much again for giving me some relief to do with the latest results.
Title: Re: Please help
Post by: Wallace on December 15, 2016, 12:14:51 pm
You may also want to join the Autoinflammatory Alliance closed Facebook group at

There are a lot of UK people with autoinflammatory syndromes that are on there and also contribute, including myself.

Title: Re: Please help
Post by: Jem on January 03, 2017, 10:44:11 am
Hi Helen
So sorry to hear of your daughter's illness. My grandson at 9 months became very very poorly with severe rashes, swollen lymph nodes and high fevers. He had all sorts of tests done but they came back with nothing. It wasn't until my daughter mentioned to the Consultant that I had been suffering with the same symptoms for many years (undiagnosed ) and was paranoid that he'd 'caught' something from me, that they sent his bloods to the Royal Free for genetic testing for Periodic Fever Syndrome. It was confirmed that he has a genetic fault and was referred to Bristol Hospital. Further genetic testing has confirmed that he has CAPS  (a mutated version of the gene) and has a diagnosis of Muckel Wells Syndrome with some elements of NOMID.  My Consultant has now requested that I have the blood test too.
I joined this site as like you we were very frightened, and most medical professionals we asked seem to know very little, if anything, about it.  My daughter and I also joined the Facebook group Autoinflammatory Alliance (Cryopyrin - Associated Periodic Fever Syndromes (CAPS ).  This site has proved to be very informative and supportive. We were amazed at just how many other 'sufferers' were out there in the UK, both Adults and children !!

I please contact me if you want to know anything else, remember there is no such thing as a "silly question" !! Hope this helps and I wish you and your daughter all the very best.
Julie (Jem)
Title: Re: Please help
Post by: Helen-123 on January 27, 2017, 11:30:01 pm
Thankyou for your replies, it's been a very long frustrating yr. She had the genetic testing done, which all came back negative. Im unsure whether they have tested for all of them thats available, as they seem to just want to tell me what they think. By daughter has had lymph node biopsy which only showed alot of wc. She then had her tonsils removed in July for biopsy, which didn't come back with anything. Before then we were having flares every couple of weeks and her crp levels during one would go up into the hundreds. SInce having them out she is still getting the flares, but we can go as long as 10weeks between them. Her crp levels are only going at the highest to 60. However they test them on the 1st day of the flare. The times it was higher we were having back to back flares and being tested days into them. The last couple of flares have only had fevers for a day or 2 though. But her symptoms are always the same, huge list of them. Joint pain, headaches, back, stomach, hand , eye pain, fatigue, red eyes, eye inflammation, the light hurts her eyes, she cant move, feels really weak, sometimes sick, diarrhea, constipation, mouth ulcers, genital sores, hives.She also has alot of these symptoms on and off most days including her temp hitting 38 nearly every day. I'm more frustrated than ever right now, as we have just got out of the hospital again. After another very short flare up of it all, fevers up to 40.1 this time. We do get up to 41 often though. But the fever only lasted around 15hrs with this one. Her rheumatologist has suggested that they are starting to think that it's just normal childhood viruses she is getting. Her reasons are due to the fact that her crp doesn't hit the 100's anymore. Her crp yesterday was 60 on day 2, we sent of stool samples Monday.  Due to loose stools, for a fecal calprotectin test. The sample was all mucus. I know and see my child 24hrs a day and I know this is not normal at all. Yet I feel like I'm being labeled as a neurotic mother, I'm taking pictures of everything I can and also a diary of everything. I even take pictures now of the thermometers to show how her temp behaves. I just feel like I don't know what to do anymore to get my daughter the correct help to give her back a little bit of normal. I have spent so many hrs researching every little thing I can find on all the pfs and I do feel my daughter falls into these. Just need to now get seen by the correct people who won't give up, because they don't understand or have the correct knowledge to help. Just wish there was an easier way instead of having to fight so much for answers.
Thankyou again for the replies and I'm sorry you're also on this journey
Title: Re: Please help
Post by: molfekk on January 31, 2017, 04:00:03 pm
Hi Helen,
I'm 19 and only presented signs of having a periodic fever syndrome in the past three years. At the start of last year I was diagnosed with a non specific periodic fever syndrome which basically means that I have a periodic fever syndrome but not one that they have recognised. I take colchicine every day and touch wood everything is under control. I was like a human guinea pig for 2 years having flare up after flare up with nobody knowing what was wrong so I can totally understand how you and your family must be feeling.
I hope you get to the bottom of things soon,
Molly x