Ivy update or Dermatologists gone wild.
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.
Tears. of. joy. Of relief, for you Tiff. You fought for her. You listened to your gut and you didn’t give up. Triumph in my eyes. It may be a rough road ahead, but now you have a map. I hope a weight has been lifted from your collective shoulders.
I hope you are able to have a nice quiet (ha!) day. Sweet Momma, be well.
Tiff - I guess this is bittersweet news but an answer that gives you a plan to help Ivy grow well and stay as healthy as she can. Immy is a gorgeous girl and you have done a remarkable job with her.
Bittersweet about William too {hugs}
Tiff you are one of the strongest and most remarkable women I know and Ivy is blessed to have you for her mum. I hope the Paed is ready for you on Monday.
If I have to
I can do anything
I am strong (strong)
I am invincible (invincible)
I am woman
You can bend but never break me
‘Cause it only serves to make me
More determined to achieve my final goal
And I come back even stronger
Not a novice any longer
‘Cause you’ve deepened the conviction in my soul
Oh, yes, I am wise
But it’s wisdom born of pain
Yes, I’ve paid the price
But look how much I gained
If I have to
I can face anything
I am strong (strong)
I am invincible (invincible)
I am woman
I am woman watch me grow
See me standing toe to toe
As I spread my lovin’ arms across the land
take care dear friend.
Feels so weird to say it but I’m happy for you.
You have some answers, some definites that will help you all for the wobbly times to come.
Best of luck.
oh I’m so glad you’ve finally got a diagnosis. As you said, doctors will actually sit up and take note now instead of palming you off all the time.
Hope all goes well with your next appt with the paed.
I am so happy that you at least know what “it” is now and can proceed from there.
This is good news, even though what lies ahead might be tough. It’s so much easier when you know what you are fighting. Thank goodness there’s no many uncertainty and doubt. I hope the treatment plan for Ivy starts to show good results too, and that you allow yourself to heal too. I imagine there was a lot of mixed emotions in that doctor’s surgery with the talk of the genetics and with William. You’re doing a fantastic job with our kids, don’t forget that!
What a relief to have that all-important diagnosis…sure, things may be tough, but now you can prove to the doctors that you DO know your child…will continue prayers for the whole family as you deal with the repercussions….
I am so happy for you, that the monster now has a name. I hope now all those Dr will sit up and listen, and give you all the help that you need. Lots of positive vibes that the treatment will go well.
You are such a strong, amazing woman, your family is so very lucky to have you fighting for them!
If I said ‘congratulations’ would you know what I meant? What a shame those f*wits didn’t listen to you two years ago when you said ‘you know, this reminds me of Immy’s ED’…
I hope that through this most recent appointment and diagnosis that you and Dave can FINALLY start to see the light at the end of the tunnel??? I hope that makes sense… I know that the diagnosis is only the beginning, not the end, but I imagine you must feel like you have been traveling alone in the dark on this one. We continue to pray for Ivy as you work out the best treatment from here on out.
Oh wow this sounds like a HUGE step forward for all of you in so so so many ways!
I hope this is the beginning of getting on top of all of this.., physically and emotionally.
Your Ivy and your whole family are so lucky to have such a strong Mamma to love them through all of this… and I am sure they love you back just as much!
Oh Yeah!! *does a silly dance*
I am grinning from ear to ear here Tiff Just like a demented cheshire cat…
*does another even sillier dance*
wooohooo!!!!!
Yay !!! big (((hugs))) Kim *skips away*
Wow, it is so terrific you finally have a box to check. That you finally have a starting point for Ivy’s health improving. It’s very unfortunate, hell it’s a crime, that it took so long and so many doctors and hassles before someone finally finally put all the pieces together. I am so glad for you. And praying for Ivy that she responds really well and really quickly to treatment!
(I was mildly amused when I clicked the link, because here in the US we have ED commercials all the time…but the ED referred to is Erectile Disfunction. Yeah, I love them vi agra commercials…)
I tried to post this, but it was flagged because of the V word…oops!
It posted no problem once I added the space in the V word. Sheesh.
Finally!! Validation for you and a plan for Ivy. I don’t understand why the doctors told you her immunoglobulins were normal when they clearly weren’t. Were they just trying to save themselves some work? And all those times you told them the similarities between Ivy and Immy and they just Poo-Pooed you? ppffftt!!
I’m so glad you finally have some answers and some direction!
I completely understand that bit about diagnosis. We don’t like to label our kids, but sometimes its the very best thing that we need to get the right help when and where we need it.
Hope all goes well with the paed on monday.
hugs
I’m glad to hear that progress is being made - having an actual name and diagnosis is a good and more concrete place to start. Good luck on Monday!
Lovely pictures!! I like the snail shot a lot.
That’s good news! At least now you have something to go on!
I hope she gets well very very soon! Hugs xxx
Oh Tiff, bittersweet isn’t it. How we wish that a complete fix is possible but how glad we are for a diagnosis to take away all the doubt and to feel as if we can move forward with something concrete to come to grips with and learn about. Sounds positive in that the symptoms are still nasty you are able to now know how they can be treated.
To save time and to maybe get the medical professionals to take some notice about my son’s Fragile X I wrote up something about it that they could put on file. I know some of them even looked and learned from it
Later on I could give them a brochure but in the early days even those did not exist.
I’m so glad that you’re getting somewhere with specialists now, and I hope that momentum just builds and keeps things rolling in the right direction for a good long time. I so know what you mean about a diagnosis being important… you’re exactly right. You DO get shoved over into that “too difficult” pile if someone hasn’t already tagged you with a label. It took us three years of scratching and clawing to reach a diagnosis of CVS for our kiddo. I’m so proud of you for not giving up, Tiff. You’re just the mommy Ivy needs and you’re my hero
William is still here with us. He is Ivy’s guardian angel & he will always be there for his little sister to help her get through all of this. He has already worked his own kind of magic! Take heart, darling girl. Love always, Mum. xoxo
Tiff, I can tell how relieved you are that you now have a diagnosis to work with. I’m glad that this will give you some peace of mind. Hope all goes/went well with the paediatrician.
Oh thank goodness!
Finally a plan for Ivy and something solid you can work with, instead of “ifs”, “maybes” and “possibly”.
Gee, another mum who was right and who the idiots in medicine didn’t listen to..you’re not the first and you won’t be the last but now you’ve got someone decent listening and being proactive for you and Ivy
YAY!!! YAY for a diagnosis!!!!
Better would have the magic fairy to come and poof it all away, but second best is a diagnosis.
I totally understand your relief to finally have that little box to tick.
I’m sorry it’s taken me so long to see this. With this crap-tastic computer I dont’ have my favorites and it’s been slow going getting back to everyone again…
But I had to comment on this statement:
A diagnosis is everything when you need help.
A truer statement was never spoken. I understand the mixed feeling of joy/relief and fear/worry once that diagnosis is reached.
I wish you the best of luck on the future and treatment of this…and pray that the obstacles are overcome to help give Ivy a long and fulfilling life!!
I’m so glad you finally have answers that your gut told you were true…painful as they may be to face…best of luck. You and your family are in my thoughts.
Thank God. (or Goddess, depending) That you stuck with this and got through to the point where you have a DIAGNOSIS!!! And now, with that diagnosis, the possibility of treatment and learning to live a ‘normal’ life. Good job. Well done, you. I am so happy for you. And how sweet that William’s short life was given even more meaning. We’re praying for you and your family. ALL of your family.
Oh yeah for a decent diagnosis! I know exactly how you feel about a box. Trust me I know.