enzyme deficiency showing allergic reactions?

[eragon]

yes, under a very good immunlogist .  am glad we are going on wednesday, things arent getting any better. 

[rebekahc]

   Please keep us posted!

[CMdeux]

 

eragon, I haven't known what to say-- please know that I am thinking about you and your DS.   

[eragon]

thank you everyone, we are all ready for tommorrow. have printed of list of his symptoms since last sunday, and have his blood test results from GP.

so fingers crossed we can get him well and get back to our normal allergy life.

He has needed lots of cuddles, which is tricky when your baby is taller than you, but still, shows how poorly a teen he is...

[eragon]

okay. so we now know what it is likely to be, bad news its nasty when you google it!

herditory angio-oedema


so we are reeling with information, and getting son to take his new meds for a week until we go back to his immunologist.
more blood tests have been taken, and certainly his symptoms do fit.


its rare, one in  100,000 or something,  brain not fully functioning at the mo!

although there is plenty of family history of allergies, but not angio-oedema, it can still happen through a mutated gene. 

I am already suspecting that new emergency life saving meds will sit alongside his epi pens.

life is hard enough for any teen, but with this? its a big weight to carry.

[rebekahc]

I'm so sorry!     

[CMdeux]

Oh, I'm sorry.   



It must be something of a relief to have a possible diagnosis to work with, however.  I hope that management is straightforward.   

[catelyn]

I've been thinking of you all day. 

[eragon]

son still feeling poorly, stomach problems from the condition, causes swelling and pain inside. so cant eat much in one sitting. 

sorting out school , and he may have to have a teacher from school come to our home. hopefully once he has this condition under control he can go back to school. however he may have to drop some of his subjects and just do exams on the core ones.

we can still only take one day at a time. I make sure there is a responsible adult at home  if i have to step out, even for a short time, and take my phone with me. Stress levels are still very, very high, as we get to grip with the realisation that he has such a rare condition, and that we may have a long way to go to get this under control, medically.
Then, of course , there are side effects from the meds.

[my3guys]

I'm sorry eragon.  I don't know anything about his diagnosis, but I hope it's manageable and he starts to feel better soon.  It sounds terrible.

[eragon]

took son back to hos. going to get reffered onwards to someone even more senior, who sounds very good. current doc gonna phone and try and get an emergency appointment for him, so fingers crossed.

as a precaution did a ECG, which he failed so gonna repeat with gp.  (am sort of freaked out about this one...trying to chill.)

got home to find letter from school. am in too minds about it.

we have a lot swirling around in our heads.  son is terribly upset, but so brave, and calm about it. He is going to need lots of support, and is dealing with a load that a adult would find hard to deal with, let alone a quiet shy 15yr old.

[GingerPye]

oh my.  I'm so sorry for what your DS and all of you are dealing with.  Poor kid.  That sounds really tough.  Hope you can get in to the more senior doctor.