child just diganosed with rare condition.

[eragon]

Hi, this is my first post in this section. I have a son with life threatening food and environmental allergies, but we have just had a new potential life threatening condition diagnosed.

its herditory angio-oedema . He is the first case in our family , and this is put down to a mutated gene, 1 in 100,000 people have this condition.
treatment is preventative drugs, steriods and perhaps some emergancy meds for flare ups.
it basically, (from what i have gathered since wednesday) causes swelling, in and out of body, with no real cause, illness, like colds, flu or tooth extraction or severe stress can cause it to flare up. the danger lies in throat or mouth swelling etc.

i wonder if anyone here has experience of this condition?

we are still feeling a little shocked, and it does seem very unfair that our teen has now two conditons that have such a huge impact on his life quality.

No experience of this, but just wanted to say hi and welcome to the board (you probably didn't want to join)

I'd put the name of the conditionin the title to get the right people reading it. But if it is so rare, you may be unlucky. I'm sure you'll get some good advice on more general SN issues, though.

Hi eragon. I would also get in touch with contact a family. They may also know of others in the same position. There is also another helpline for rare condition which hopefully I will remember or someone else will know.

Have you been in touch with contact-a-family? They will put you in touch with other parents with a similar diagnosis. I have checked and there are also several facebook groups - if it is a rare disease it is worth connecting with people world-wide. All I can offer is sympathy. Diagnosis is a very difficult time - get as much support as you can.

What about that site for rare genetic conditions (Unique?)

hi eragon, welcome to the board Contact a family are good, there's also unique. Have a look on facebook, most support groups have a facebook page now and are often more active than their official sites.

Hello and welcome. You might also find it worth posting this on the general health boards as well for a wider audience. I don't know much about angio-oedema, other than that it is a possible side effect of one of my meds, so I have heard of it and am vaguely aware of the symptoms, but obviously this is completely different to your son's position!

Hi I have a little girl who seems to have symptoms for this disease. She is current mystifying doctors who can not offer a diagnosis. Can I just ask how old your son is and what are his symptoms? Thanks in advance. I am sorry to hear about your son and hope you find some support x

he is 15, has random lip , tongue swelling, tummy ache with loose stools. joint pain. symptoms seem allergy related but not linked to any food.

blood tests to gain diagnosis from immunologist.

under care of immunoloigst as ige allergies food and enviroment. however dont seem connected to this condition. as far as we can tell at the moment as we were only diagnosed on wednesday.

lots of people end up having exploritory ops with this condition due to odd stomach pains, due to internal swelling, but of course no problems found this way.

I cant help you any more, as we really need the support ourselves!