National Amyloidosis Centre Patient Forum

Amyloidosis => Periodic Fever Syndromes => Topic started by: JonesIOM on July 17, 2015, 09:34:50 am

Title: Son aged 7 with recent Mevalonate Kinase Deficiency (HIDS) Diagnosis
Post by: JonesIOM on July 17, 2015, 09:34:50 am
Hello, all.

My name is Tony, my wife is Michelle and we live on the Isle of Man.  As such for specialist services we rely on the UK for our tertiary care services.  Our son Lowell (aged 7) is currently under the care of our local paediatric consultant and Alder Hey. 

Firstly at the moment we don't believe our son has Amyloidosis. What we do know is that he has frequent fevers for the last 2 years or so and this week received a Clinical Diagnosis for HIDS.  There is now a treatment plan being put in place for off label use of 2 drugs (either expensive or very very expensive) that have found to be effective with the hope of suppressing his flares.

What has led us here though is during our recent appointment at Alder Hey concern was raised about his SAA levels and wanting to avoid the chance of progression to Amyloidosis.  His SAA level was 109 when blood was taken during a recent flare.

During previous admissions to our local hospital it's also been noted that his Liver and Spleen were slightly enlarged.

I guess it would be helpful for us to understand what a typical SAA level is during infection as while 109 seems very high we have no real baseline to measure against.  What we do know is 109 is a very long way from where it should be.  He's had more bloods done this week (he's healthy at the moment) so we will have some more results soon(ish).

Also do we need to raise with Alder Hey (via our local consultant) the enlarged liver / spleen?  Possible it already has been of course although we have copies of the bulk of the correspondence.

Do any other members have any experience with any of Periodic Fevers Syndromes?

The fevers we can (and have) cope with, we are though quietly terrified about things progressing.

Any and all help or advice gratefully received.

Title: Re: Son aged 7 with recent Mevalonate Kinase Deficiency (HIDS) Diagnosis
Post by: Miriam Vered on July 18, 2015, 07:45:56 pm

Hi Tony,

Welcome to the forum. I'm sorry to hear about your son's illness. You could ask your doctors to discuss his case with Professor Philip Hawkins or Dr Helen Lachmann. They run the Periodic Fever Syndrome service at the National Amyloidosis Centre. Their contact details are:
Professor Hawkins:  tel: +44 (0)20 7433 2815/2816
Dr Lachman:  tel: +44 (0)20 7433 2804

If the doctors then decide that it is appropriate, they may refer your son to be seen at the NAC.

Our patient information leaflet about Mevalonate Kinase Deficiency may also be of interest to you: see here (

There are some other forum members with Periodic Fever Syndromes, or with relatives with these syndromes, but I don't think they've posted much yet. Hopefully some of them will reply to you, as it can be very helpful to hear from others with similar conditions.
Title: Re: Son aged 7 with recent Mevalonate Kinase Deficiency (HIDS) Diagnosis
Post by: JonesIOM on July 19, 2015, 11:20:01 pm
Hi Miriam,

many thanks for the reply and the contact details.  He's just started with a flare today so has been admitted into our local hospital hopefully with a view to getting him transferred over to Alder Hey (it's all alas a little more complicated with us being in the middle of the Irish sea).  They are trying anakinra initially, not looking forward to telling him he has daily injections to look forward too!  Small price to pay I guess if it keeps everything in check.

If there are any other Periodic Fever people out there would love to see how you are coping etc.

Once again many thanks for taking the time to reply it's much appreciated.

Title: Re: Son aged 7 with recent Mevalonate Kinase Deficiency (HIDS) Diagnosis
Post by: Anne144 on June 13, 2016, 07:43:09 pm
HI Tony,

You may already have my email ( sorry to repeat myself) but Miriam suggested a I also post here to see if we can locate other parents whose children have HIDS, which I think is a good idea.

My son is now nearly 11 years old and was diagnosed when he was 7 years old. After 7 years of doctors and hospital visits I snapped and refused to leave doctors until the GP agreed to have Ben screened for various tests.  The GP was a locum doctor who had not worked at that practice before, he let me see my son's notes but they were generally about me, and not my son.  I was deemed an overprotective mother who frequently had my son at the doctors for minor ailments.  As you can imagine I was furious.  So my advice to any parent is make a fuss and make demands.   I am now left with the guilt of waiting 7 years to do it and the damage that may already be done to my sons body.  My other advice is that you will be the expert of your child condition and not the doctors.  This is not a reflection of the doctors competence but simply that the illness is rare and they depend on your expertise.

My son is now on Anakinra which has helped him lots and thankfully appears to have no side effects.  He is now only ill every 3-4 weeks, lasting 2-3 days which is a massive improvement.  outwith  these periods he is well, which I think may be unusual for this illness but as there is little written about it I am unsure.  He only gets Anakinra on the days he is unwell ( which may also be unusual)

His symtoms are as follows:  headaches, mouth ulcers, stomach pains, vomiting, diarrhoea high temperatures, lethargy and joint pains.

I have worked out, that for my son it is excessive exercise and any ailment that will cause inflammation in his body that will bring on his symptoms.  This can be a strain on his muscles, a cut, cold/virus or even an infected spot. 

I would welcome any tips on easing the pain of the injections as he finds them very sore and upsetting.  The best I have managed so far,  is to accommodate his bizarre rituals ( so he is in control) and the use of frozen peas but would welcome any other tips.

I would also be interested in hearing from young people or adults who have this condition to gain an insight into what has helped/hindered them and if they have any advice for me and my son.

Looking forward to hearing from others with the condition and/or their parents.