Thanks for this wonderful site. Below is Jarrod’s story. I will try to cut it short.

My son Jarrod 12 has a long history of health problems that have only got worse. At the moment this is still undiagnosed. He has had numerous symptoms over the years that include:
•        Extreme pallor
•         Malaise
•         Listless, Fatigue (Can’t sleep)
•         Abdominal pain, diarrhea, vomiting, distended stomach, terrible stomach spasms, cramps etc.(doubled over in pain sometimes),bloating
•         Sleeping problems (worse when he is sick)
•         Giddiness
•         Hives, rashes, bruises, wheals, petechial  bruising (have got some photos)
•         Fast heart rate
•         Bronchitis
•         Conjunctivitis
•         Ear infections
•         Dry honking cough that doesn’t respond to anything
•         Tonsillitis (were taken out November 05)
•         Anaphylaxis  to a degree- so far responds to water or asthma puffer
•         Headaches that we believe are cluster headaches and are treating them as such. They can come with blackouts and seizures.
•         Heartburn
•         Pain in back that moves around to the side, pain in legs from knees up
•         Skin lesions that resemble burns and one that looked like a skin ulcer (very nasty, painful and sore to touch)
•         Mouth ulcers
•         Scrunching his eyes
•         Constant throat clearing
•         Balance problems and sometimes can’t control the left leg  (gets worse when he gets sick)
•         Scars on his skin
•         Nose inflammation
      •         Dark circles under the eyes
•      Severe eczema (grew out of about the age of 6⅟2 )
•      Sore throat
There are probably some I’ve forgotten. These have always been put down as viruses, sinus and allergies. His health only got worse when he started school in 2005. In 2007 the headaches began and we really started to put patterns to these attacks. They always seem to last for 5 or 10 days. Mostly 10 days which we always thought was something to do with histamine. Also during an attack he can react to something else and set off another 10 days. Pollen, wind, heat, dust, plants, trees and smoke are some of his triggers. From May until the end of the year is the worst, our winter and spring. We are in Australia.

He has been hospitalised a couple of times for these headaches. The last time being September 09 .We felt that this sickness was not fully investigated at the time and the paediatrician was fixated on stress anxious etc. We were sent to the psychiatrist who diagnosed somatization (stress shown as physical symptoms. )We never truly believed this at all which leads me to my research, we then found mastocytosis and I have to believe it fits perfectly. No one is interested so we are battling away ourselves trying to put the pieces of the puzzle together. We have seen numerous doctors and paediatricians.

He has had the following tests. Tryptase which was normal but might not have been done at the right time. (still trying)
Very high IgE
24 hr urine 5HIAA which was one below normal
Blood 5HIAA which was normal
24 hr urine N methyl histamine which very elevated 3.1 (should be up to 1.5)
We have had blood tests. They have showed high liver enzymes in 07 and in 08 high basopils and mild thrombocytosis.
We have also had 2 skin prick tests with significantly different results

His medications have included a H1 and H2 antihistamine and mast cell stabilizer and singulair. Nothing seemed to be successful. The only success we have had is with beta-blockers which have done wonders for the headaches; they have even got him a bit better in between attacks with putting more colour in his cheeks, more happier and helps with balance and walking. At the moment the beta blockers is all he is on.

He has missed a lot of school over the years. In between attacks he lives with more and more symptoms.  He does not compete in sport at school much as he hasn’t got the energy.

As his mother I am very worried and it is so heartbreaking to see him like this and feel so helpless. I am also extremely angry and frustrated about the lack of care and support.

Please if anybody has any ideas or questions.
Thanks
         Judy                                                            

     

Hi Ramona,
Thanks for your reply. You are right, I feel we do need a mast cell specialist. Only problem we have is the Royal Melbourne and the Alfred hospitals do not see children. Getting a diagnosis is just as challenging as the illness.

I understand your concern about the beta blockers but we all can see a difference with them.They were initially for the headaches but we have found they make him more brighter/bubblier, more color in his cheeks, improved his balance and walking and has reduced his number of attacks. We have tried H1 and H2 antihistamines, mast cell stabilizer and singulair. They have not worked in the past but he may  not have been on the right doses as we have not got a peadatrician or specialist.We always believed the headaches were secondary to some kind of allergy histamine etc.

Is there any other kind of disorder you think we may be looking at here,considering his Urine N methylhistamine was very high. It was  3.1 (range 0.0-1.5)

Thanks for caring. We have felt very alone, glad to have your support

Judy

Hi Judy

I feel for you , you are doing an amazing job . You've done amazingly well getting these tests so far

I understand this department do not see children . But they may be worth a ring as they may have a peaditrician they will work with

I am with Ramona on the beta blockers . I will suggest alternative approaches in a mo . beta blockers are a concern because of the reason remoan said and because they block the benifits of EPI PENs . In fact they work on the opposite receptors and make the situation work . lowering pulse and blood pressure .

There are 2 receptors - Alpha and beta . Beta are blocked by the drugs , but it is these receptors which need stimulating to make you / me better in an anaphylaxis .

So they can stimulate an attack AND stop you treating it in a life threatening situation .

You say you are treating Jarrods headaches as cluster headaches . has he seen a neurologist as headaches should be investigated .

Regards Jarods headaches , the fact beta blockers have worked suggests high blood pressure .

There is a form of mast cell with high blood pressure . The body also does this is early shock . The important other test is , for a pheaocyocythoma . These present with headaches and other symptoms . There is a 24 hour urine collection for cateclamines - epinepherine and nor epinepherine , which tests for this . This can be done by an endocrinologist .

I hope you find a mast cell specialist as Ramona said , they are the ones to make the necessary decisions . Because mast cell disease is seen as rare ( it seems wholly under diagnosed so may not be as rare as its felt to be ) the doctors who truly understand it are also rare .

A specialist doc is necessary because mast cell behaves like a syndrome , we have it but are all slightly different in our presentation . We have similarities but no 2 of us are the same . One example ( of many ) is that i can tolerate aspartamine but Ramona can't .

I feel you have moved on from antihistamines , but you son has high histamine , so regardless of the exact diagnosis , he is having symptoms from it .

I think he was under medicated before and that is why he didn't get better with them . i was the same . I have now reached a level that my symptoms are much better controlled . I know the gastrocrom didn't work . With this I would say it takes about 6 weeks of dosing at the right dose for gastrocrom to work ( some people less but this is the norm ) . I imagine Jarrod also felt sick as that is a side effect .

What medications did you try for Jarrod ?

I feel the pediatricians decision that jarrods problems were somatic in origin has set the progress of jarrods symptom investigation back somewhat . I have been here . My doctors could not find the cause of my illness ,so referred my to psychiatry, the psychiatrist found nothing . I was stressed with being ill and having anew job to start which i couldn't begin until i got better and I had had to put off a visit with my children due to me being in hospital . Despite this my symptoms were label due to anxiety . HMMMMM . I didn't agree .

They said i had got anxious on another Ward the week before . I had got upset as I had been denied anti sickness for 2 hours .

None the less it was all blamed on anxiety . That was summer 08

All my symptoms now have other explanation with idiopathic angiodeama ( swelling ) and diabetes . I am still under investigation . I moved towns to ensure I got the care I needed .

My GP didn't think it was anxiety , so referred me on , but it has taken me a long of time to get to the right doctors . I have no psychiatric problems at all . My illness is physical .

Coping with all this is hard , I have had counselling to help me be myself in a new situation .

You have the evedence on paper that your sons problems are not somatic .

We do find doctors who are working with something they do not know , are prone to diagnose somatic conditions and essentially BE WRONG Mast cell disease is mentioned in 3 sentences in my medical test book - I am a nurse I bought it for essays and for sussing complex patients as I always assumed physical causes of illness even psychiatric as they are due to imbalances in blood chemicals .

So mast cell diagnosis , is a job for mast cell specialists ( this includes mastocytosis and other mast cell condtions )

many hugs
Josie

Hi Judy ,

I understand your frustrations . I can also see why you don't want to go back to a consultant who took that line . I finally got an apology out of my , its all anxiety , consultant . I keep it on my email to give me a pick up when i have had enough .

The clinic Ramona mentioned may know a pead who would be worth visiting . On the mastocytosis website there is a lady celled Nancy Gould . She is in New Zealand , she may know of a peadiatric team who will work with the adult team . She is very knowledgeable and has worked with the top american masto speclaist doctors .

We have another lady on here , whos daughter is ill with what looks like mast cell disease . She is having support from Nancy . I will highlight you to her as she may have some options to try .

I remain very concerned about the beta blocker , as if Jarrod shocks , they will not be able to use the typical , to hand treatment on him .

On here any personal emails are shard in private messages
I hope this helps and jarrod is ok today

Josie

Adele, could you possibly give a suggestion as to who  in pediatricians are expert in masto for Brisbane?? I think that would help loads
Thank you so much!!
Hugs
Ramona

Hi Ruth,
          I can't see your story about your son anywhere, but I have read your post on 31/1 about making a big deal about your son being sick. We too have been through an ordeal trying to get answers. It has been implied that I am the problem here and making Jarrod sicker than what he actually is. I also understand about appointments.
We got our hopes up  thinking someone might actually be able to help here, only to walk out and burst into tears. It got to point that we stopped going to peadiatricians and proffesionals until we got more proof. Now we have more proof we can't find anyone.

Anyway I can relate. I would love to read your story if you can point me in the right direction.

Hoping everything is alright
                                      Judy.

Hi Judy ,

Many of us have been accused of munchausens ourselves or by proxy . I understand completely how this feels . I haven't had a direct accusation , just very thinly veiled ones . I had a doctor say " you may just be one of those people who blue for no reason " ah NOPE . I wiped the floor with him and re attached my nursing balls . I appreciate exactly how hard it is when you have disbelief .

I just wanted to encourage you As I have had an apology from my 2 its all anxiety " doctor and I know you will too xxxxxxxxxxxx

many hugs
josie

Hi Judy

Yes , it did feel good But bitter sweet as well as I wanted him to be right in some ways . But I am much happier being believed .

I have a list of doctors who I need apologies from

Please keep pushing , you will find help I hope Adele has helped .

Jose