Here’s the scoop. Ivy is every dermatologist’s fantasy. The pin up girl of pemphigus.
We met with the guru of all things blistered. She asked us some questions. She took lots of photos. She made some suggestions.
Our heads did spin with possibilities.
What it came down to, what is our (limited) understanding and what has been confirmed this evening is this;
If an immunoflourescence (direct) comes back positive for pemphigus then it is pemphigus. Just because it presents differently from the common form does not mean it can’t be pemphigus. Nor does it have to be something else just because the Ig’s are different from typical presentations. She didn’t come straight out and say the other derm was an idiot but she did, if you know what I mean.
David, Imogen and now, Ivy, all have confirmed ectodermal dysplasia. Not just any ED but a type that also causes,
among other things, pemphigus. Considered genetic and not auto immune.
Among other things heart abnormalities.
Among other things gut problems.
Among other things immune deficiency.
We were going through the history. Ivy history and family history and we were not getting far. Then the good doctor asked about William and when she discovered that he died from an aortic stenosis, everything fell into place. Like the final piece of the jigsaw puzzle. My William - the missing link. Literally and physically.
I have said to the doctor’s all along that she presented to me like Immy had all those years ago. Today I cried tears of relief, of validation, of hurt for my baby girl, past and present. I cried for her future.
I cried because when the doctor’s told us that everything had come back ‘normal’ they didn’t actually mean that. Her IgG was low, she had IgE’s all over the place and her IgA was not normal either.
For Ivy, the queen of all things genetically bizarre, it means a few things…
It means she will possibly have issues with skin, teeth, hair, nails and temperature regulation as part of the ED
It means that we can treat the pemphigus with a mix of prednisone and dapsone. We just have to iron out a few creases;
* that she does not have a missing enzyme, which would cause the dapsone to make her very unwell
* she is anaemic already and the medication can make it alot worse. This will need to be treated.
* her zinc levels are questionable also, so these need to be addressed.
It means that she will need further investigation, with the possibility of having IVIG or the need for IV antibiotics when she becomes unwell, as she has a questionable level of IgG deficiency that some would treat and other’s would play the watching game with.
It means a label, a box, a place to belong. If that seems weird then let me explain; I can tell doctor’s she has this…thing…and they will listen. They will treat her accordingly, instead of putting her in the too hard basket and patting me on the shoulder like a neurotic mother and asking me if she is my first. A diagnosis is everything when you need help.
We are going to see the paediatrician on Monday, so hopefully I will have a better understanding then but for all of our lovely people out there. Our friends who have seen us up to this point, I wanted to tell you what we know so far. I wanted to include you in this because without you all it might not have ended so well. Some of you have been with us in body, some in mind and all of you in soul, to which, I am truly grateful.
