847pm
When you get a call at nearly 9pm from the head of Neurology you have to kind of figure that it is going to be bad news. Dr Darras called this evening to let me know that Rachel’s Juvenile Batten Disease test came back positive with the standard DNA presentation.
For those who are new to the road I have been traveling with Rachel, Batten Disease is 100% fatal. There is no cure, no real treatment… from what I have read up on it within the last few weeks all they can do is treat the symptoms. I will leave you to google “Juvenile Batten Disease” because while I am ok right now (I was pretty sure that she had something neuro-degenerative) I will not let myself think of the future right now.
And to anyone who reads this please take heart in the fact that you can’t say the wrong thing to me. I’d much rather you stick your foot into your mouth than ignore me because you couldn’t come up with the right words.
The next step: MRI on Thursday which will give us a good baseline and comparison from her other MRI 16 months ago.
John will be home in a few minutes so I have to prepare myself to tell him…
TeamRachel aka mrskatvon is both a website to gain public awareness of Juvenile Batten Disease (which affects my oldest daughter) as well as a journal to remember the events in our lives.
Rachel was diagnosed with Batten Disease in July 2009 and while we knew something was "not right" we had no idea that such a nightmarish disease existed. There are dozens of nasty, orphan disease which affect people both very young and old.
Aside from dealing with the changes of Batten Disease in my daughter, Rachel, I have tasked myself with making life memorable for all of my children to make sure that (at least) 3 of them grow up to be as well adjusted and happy as possible.
I am so so sorry! I have seriously been in tears since you told me. My heart hurts for you, John, the kids and especially Rachel. I am just floored. You know I am always here if you need me. Love you!
sending more hugs..hoping it is going OK with John right now…
Kate,
I’m so very sorry. I will keep Rachel in my prayers.
Thinking of you all.
Kelli
Kat, I’m so, so sorry. I’m praying for you all.
I was honestly hoping it wasn’t that. I’m praying for a miracle for your little Junebug.
You are on my heart & mind.
Kat –
You and your family and in my thoughts and prayers. ((hugs))
Kat,
I read your facebook status this morning, but was heading out of town. Finally things settled down enough for me to google Battens Disease. This was before I read your blog.
I am so sorry- I was so hoping you would get some answers, but this is not the news I thought you would receive.
You are in my prayers.
Kim
I’m so sad to read this update, Kat.
I will hold you all in my thoughts as you travel this journey and send you lots of strength.
JJ x
My heart is breaking. If there is anything I can do or if you need to talk I’m here for you.
Oh Kat –
I am so sorry. This is not the answer I was praying for for Rachel.
Gosh, I am so very sorry for what you guys are going through. I will keep you guys in my daily prayers.
Danya
This is so unfair. I am so sorry Kat. I was so so so hopng it wouldn’t be that. I have “known” Rachel since she was a wee thing in her crib. This hurts.
Many hugs and PTs for you guys. I am so sorry for this news. Thank you for sharing this journey with us. xo
Christina
Kate, I’m so very sorry to hear this. I’m sending tons of PTs that way, in hopes of miracle. Big hugs for you all. :hug:
Debbie
Kat, lots of love to you and John and the kids, especially to Rachel. Ben and I are here for you.
Amy
I am so very sorry. Sending you and Rachel lots of hugs and prayers.
Kate, you are my wonderful best friend and I knew when you called last night I had a sinking feeling in my stomach…I’m very sorry about Rachel and this horrendous disease. When I got off the phone, I couldn’t think why life is unfair. I don’t get it. I love you guys.
We’re thinking of you all, and sending as many positive vibes as we can.
You’re all in my thoughts…
Kat,
I am so sorry to hear about Rachel’s diagnosis. I’m praying for her and your entire family.
SarahE
I am so sorry. Many hugs and prayer, I can’t even imagine. If you need anything, I am phone call away. ((Hugs))
Kat,
I just wanted to stop by and tell you how sorry I am for Rachel and for your whole family. I can’t imagine anything worse than what you are faced with and I am praying for your strength and for Rachel’s. My heart is hurting for your family.
Kat, I’m thinking of you all and sending loads of prayers for Rachel. I hope a miracle happens. {hugs}
Kat,
I’m so sorry to hear about Rachels. There really nothing I can do but to pray. So I will pray for you both as much as you can. Many (((hugs)))
Kate – I am sobbing at my desk and so wish I could be there with you right now. You need me and I’m on the first plane out there. I love you! Jacquie
Kate,
I know that words are not going to help, but I just wanted you to know that I pray for Rachel and you and John everyday. Lots of love xxxx
Kat – I’m speechless. My heart is broken for you. I remember Rachel from when she was still in your belly! I will keep you and your family in my prayers. [[[[hugs]]]]
Kate- I am so so sorry! My thoughts are with you, John, Rachel and the kids through this journey!
Kat, I’m so sorry Rachel and your family has to deal with this. I can’t even imagine the myriad of emotions you must feel. My thought are with Rachel and all of you.
Kat,
I am so very sorry to hear this news. My thoughts and prayers are with you all.
Arin
I just heard your news Kat, I’m so sorry. I will be thinking of you all. (((hugs))) Dx
Hi Kat,
I am on the board of directors for BDSRA (Batten Disease Support and Research Association). I am sorry to hear of Rachel’s diagnosis, but I am here to tell you there is large network of families to support you. My sister was diagnosed with Batten disease in 1999. I would be happy to talk to more about BDSRA and answer any questions you may have.
My heart goes out to you and your family.
Sara
saracthompson@hotmail.com
I havent been around in abit Kate, I am SOOO so sorry, I dont even know what to say. You guys are in my thoughts.?
Kat
If there I can do anything to help please let me know. I will be able to pick up Rach soon and do something fun..lunch date..beach date..with Becca and maybe a few other friends. Please keep me informed as I can help her more during the school year.
Keep smiling for her!
Tami
I am so saddened by this update and the news. My heart is breaking for you and for Rachel and the entire family. Please email or reach out to me at any time at all. You are a strong woman, but please reach out for support and help when you need it. Many hugs and many more prayers for you and Rach and the family.
No family should ever have to go through something like this. It’s so unfair.
You will be in my prayers.
its just not bloody fair. I’m so sorry Kate.
Oh Kate. My dear Kate. I just saw this now. I am SO, SO sorry. Jesus… I’m so sorry. I can’t even imagine, and there just are no words. This is just terrible and so very unfair.
Rachel is in my thoughts, as are all of you during this very difficult time. *hugs*