We got a DIAGNOSIS

[meeskamouska]

Well, I have posted on here a couple of times in regards to my DD's fever syndrome.

In my last post we were getting some genetic testing done that would hopefully lead to an answer.

Well, we got one. My DD has a rare genetic mutation called TRAPS, tnf-receptor associated periodic syndrome.

This is the one fever disorder we did not want her to be diagnosised with....because in our thoughts the symptoms and reprocussions are the worst.

So, my prayer for an answer has been answered.....it was just not the answer I was searching for.

I have taken a few weeks to process this before we return to see her specialist. I want to be sure I have all of my questions ready and my research done.

It looks like we will have to start giving her shots of Enbrel at home once or twice a week. So, I have begun to prepare her for this new routine.
Hopefully the Enbrel will lead to less or no more fevers and the prevention of protein collection on her organ down the road.

I just hope that I can keep it together and prepare her for these shots and the new routine that will be in her life for a very long time.

 

[WDW1st-timers]

Awhhhhh....meeskamouska...I'm so sorry your going through that. I totally understand where you are coming from. Just recently my daughter Kendyll who is in the pictures below has been sick since she was born. Cold symtoms everyday. She is just over 6 months and have been on 12 different medications and this last one the ped's doctor wants her on it for 3 weeks straight. If this doesn't clear up (which it doesn't seem like it so far) she has to go in for more serious test. He told me that he has to do the list of all the major ones like lukimia, CF, all them. I seriously don't know what I'm going to do and how I'm going to handle finding out it's something terrible. Just like you...I look in your signature pic and she looks so sweet and innocent and I look at my daughter and wonder why these beautiful children have these problems. These are problems that most adults can't even fight, let allow a child.
So I'm saying a special prayer as you need it too. I hope that one day you will be able to find that miracle cure that you so desperately need now. If you need anything or even a shoulder to cry on...PM me.

Lannah

 

[Mackey Mouse]

First to Meeska.. I am so glad at you least you know what you are dealing with and how you deal with it. I will try to do some reading on this later on this morning so I know what it is too.....just in case you need a hug or want to talk about it.

Also, to Lannah......my daughter and her husband were just tested for the CF gene as he is French Canadian and my daughter is 1/4 French Canadian....if he had the gene for CF, then she would have been tested as well to see if the baby would have CF... Now fast forwarding to my cousin's sweet adorable baby girl who does have CF... she is thriving, they seem to be able work with it now.. so try not to worry if it turns out to be CF as they seem to do ok now with it. Thank goodness we are doing well with some of these illnesses..

 

[Mackey Mouse]

Meeska.. I did some quick reading on this subject and you will have to keep us informed on how she is doing. I do understand now why you had hoped it was something else.....seems you have a lot ahead of you, know that we are praying and please do keep us informed how she is doing.. I am thinking of you.. Big hugs..

 

[Goofyluver]

Sometimes these things are meant to happen to us to teach us something. Sometimes these awful awful awful things can turn out to be blessings in disguise. A diagnosis just gives you a directions.

 

[luvwinnie]

I am on ENbrel for psoriatic arthritis. How old is your dd? Praying the Enbrel helps her.

 

[meeskamouska]

Thanks to all for your kind words and support.

Luvwinnie....my DD is three. How are teh side effects on the Enbrel? Is it helping with your inflamation?

 

[safetymom]

meeskamouska I am so sorry to hear about your daughter. At least you know now what you are dealing with. Sending hugs and prayers for all of you.

 

[TruBlu]

Meeskamouska you have a beautiful little girl. I pray that just knowing what your are dealing with will give you some peace, and that the medicine will work wonders! I am so sorry that you are faced with this.

Is there some little treat that you can give her after her shot each time? My boys know that they get a small prize after shots, so in a strange way they almost look foreward to getting one.

 

[luvwinnie]

Thanks to all for your kind words and support.

Luvwinnie....my DD is three. How are teh side effects on the Enbrel? Is it helping with your inflamation?

It's helped me tremendously. I feel so bad for her though...I can't imagine being 3 and having to get an injection every week (is that the dose they give children?). Be sure to numb the area with ice before injecting...I barely feel the needle go in but if you use the pre-filled syringes the medication itself BURNS. I've had no side effects, thankfully. PM me anytime if you have questions.

 

[1maverick1]

After using Enbrel (that you have to mix yourself) for several years to control my RA, my doctor talked me into trying the prefilled syringe (not the click injector), and yes!, it burns like crazy - so now I am trying to weigh the pain of the burning against the idea that it seems that the premix works better at controlling my RA. . .I guess it's no contest, I'll put-up with a minute of burning to have less joint pain!

 

[Charleyann]

I feel fo you and your family. When my son was born. He was premature and healthy. About the time he should have been born, he stopped breathing. That was the beginning of many undiagnosed illnesses and 28 hospital admission with many illnesses, test and painful procedures including a spinal tap at 3 months. Finally at 14 months of age, he was diagnosed with cystic fibrosis. It wasn't the diagnosis we wanted to hear, but a diagnosis.....


There is nothing worse then the unknown. Knowing your child is ill and no way to stop it or understand it. Good luck to you all waiting.

I will keep you in my prayers!


Charleyann