A few things

Posted by in Batten, Boston, John, Julie, Kat, Life, London, Rachel

I still can’t get over that this disease actually exists. That both Jay and I were carriers and happened to meet (etc) and have a child who has this disease. I can’t get over that she is well on her way to complete blindness, although we are lucky that she still has a good bit of usable vision. This feels like a nightmare, one that we can’t wake up from. Trying to go on with smiles and cookies and clean laundry and pancakes IS what we are doing but it seems so wrong right now. I’m not crying a lot anymore and for that I am grateful. Only about 200 kids in the USA have this disease, I can’t believe that we won this lottery. This is a terrible lottery.

I’ve put together a facebook page for Rachel as I imagine I will do some BDSRA fundraising down the road and I definitely want to be a person who educates others about this disease. I must give a “shout out” to the people that run and/or belong to the BDSRA. For such a small number of affected families I’m not sure you can find a more caring and supportive organization. I have spoken to several people (either on the phone or via email) that have children further along than Rachel and some with children that have passed. They will answer ANY and EVERY question without being offended or shocked at how personal. Because of the few affected there is not that information out there on things like “average age of the first seizure” or “average age that vision was light perception only.” I’ve been gathering that information on my own and the BDSRA and members have been terrific. Seriously.

Here are a couple of links:

Rachel’s facebook page: http://www.facebook.com/pages/Rachel-von-Tungeln-LIVING-with-Juvenile-Batten-Disease/266424125552#/pages/Rachel-von-Tungeln-LIVING-with-Juvenile-Batten-Disease/266424125552?ref=mf

Our Youtube videos that I plan to add to regularly: http://www.youtube.com/user/katevon5

My blog: http://www.mrskatvon.com

BDSRA: http://www.bdsra.org/

University of Rochester Batten Disease Research: http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/index.htm

This sucks so much. Not my Rachel. :(

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I came across a few videos

Posted by in Rachel

That I had taken in the past which really reminded me how fantastic that videos are for capturing memories.  I took this video of Rachel walking Trevor and wanted to share it.  You would never know that she has very poor vision and/or that anything is “wrong” with her by watching this video.  I hope we get to keep her like this for a long, long while.

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Monday Update

Posted by in Batten, Boston, John, Julie, Kat, London, Rachel

Rachel started on her first day of the last two weeks of school today.  She was not feeling very well yesterday and ended up waking up about 8 minutes before the bus comes to pick her up.  She was very excited about going with Mrs Cross and she got ready fairly easily.  Still had trouble with hair, teeth and shoes but I never expect that to go very well.  I’m concerned about next years placement but I am going to try it out and see how she does.  I think she might have had a seizure a few days ago because I found vomit in the upstairs bathroom sink and none of the children will own up to it.  If the three little ones had puked they would have come into bed in the middle of the night.  If Rachel vomited and doesn’t remember it very well might be seizure related.  Its hard to pick out what is Batten related and what is regular stuff.

Julie started Park and Rec today, it is the town run summer camp that goes for another three weeks.  I was terrified to send her but she really wanted to try it out and it is directly across the street from our house on the L Street field.  I’m sure she is going to be fine because she is really independent but I still worry.  A lot.  It will be good for her to break out from the house for a few weeks before starting Kindergarten and get a good tan.

London and Boston are with Linda today until 3.  London was very upset that he isn’t old enough to go to camp with Julie but he is excited that he is old enough to start preschool in the fall.  He wears his backpack around every chance he gets.  Boston just wants to be fed and watch “Tokyo Mater” over and over again.

John and I are hanging in there.  I walk around feeling really sick to my stomach and he walks around with a splitting headache.  Either of us can cry at the drop of a hat.  We took the kids to see Gforce on Saturday and there was a scene that set me off but no one saw.  It is nice to get out and do “normal people” stuff while we can with her.  Taking her out with the other 3 can be totally overwhelming for her and she can’t enjoy herself so I am trying to take her out more by herself or just with Julie.  People ask me a lot how they can help and the only thing I can think of, especially those who are far away, would be to send the kids mail.  If you only send mail to Rachel the other three will feel left out and I’d rather them not know for as long as possible.  There will be plenty of time where the other three kids will know something is terribly wrong but I’d like to prolong that time as much as possible.  Here is our shop address , I’d rather not post our home address publicly:

The Good Geeks
667 Nantasket Avenue
Hull, MA 02045
Attn: vT Kids

The kids love mail in general, stickers, postcards, etc.  This isn’t a request for mail so don’t feel obligated, I just wanted to share a way that you could do something since several have asked.

I took some pictures of the three little ones yesterday playing in our teeny pool.  Might try and post them soon.  I’m not feeling very motivated today, it is taking a lot of effort to put on a good show for the children (although I am doing it).  Takes a lot out of you to look normal but still plan for Rachel’s future.

I’m trying to decide whether or not I want to get involved with the fundraising that this disease needs to get more information and eventually a treatment/cure.  I need to think about it some more.  I’m most focused on keeping life normal, making money and deciding what to do for Rachel and her education as things progress.  I feel strongly that we need to live close to a school for the blind and have been putting some time into researching those options.

I’ve also put a call into “Make a Wish” to see if they can do something for Rach before she loses more vision and cognition.

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Hair Success

Posted by in Rachel

Many thanks to my friend Mary who organized Rachel’s haircut today via her friend Jess.   Rachel loves it and I think she looks awesome!

Less hair + less hair in Rachel’s face = good for me!

Rachel's new haircut

Rachel's new haircut

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Posting information

Posted by in Boston, Kat, Life, Rachel

In the weeks leading up to her diagnosis, I did a lot of research looking to see how other Batten Disease kids present.  What their eye symptoms were, previous testing, bloodwork, etc.  One site in particular I found myself going back to a lot even although this family is touched by a different form of Batten Disease.  Looking at Nathan’s medical reports was so helpful to me, I have decided to put the same type of information online.  In the coming weeks I am going to have a column on the right hand side (you’ll probably have to scroll down to the bottom to get there) but I plan to make the medical stuff available in the interest of helping other parents in my shoes (with a child who has language, memory,  visual problems and probably a cognitive decline) try and pinpoint if they should talk to their Dr about being tested for NCL (aka Batten Disease).

I’ll start by sharing the fax report of her diagnosis.  Click here for the diagnosis PDF

Rachel was a little irritable today and very excitable.  I have finally settled them in for a little while with Ice Age.  I am about to start dinner in a few and then head to a nighttime Dentist appointment.  Tonight I am meeting Lulu and her friend for a drink after the kids go to bed.

I also wanted to announce that London (who is turning 4 in October) is FINALLY POTTY TRAINED!  Now we just have to convince Boston to lose the diapers and I’ll be a happy Momma.

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Last day

Posted by in Kat, Life, Rachel

I met with Dr Rappaport today and am very glad that life can relax a bit and get back to normal (which is always a relative term, right?).  Until she starts having visible signs of seizures and unless anything else crops up I plan to keep her out of the hospital and Dr offices as much as possible.  Tomorrow they have a little bit of summer school in the morning and I am going to do a quick round of miniature golf (she has her heart set on it so we’ll make it as fun as possible) and probably an hour or two at the beach courtesy of Mrs P.

Maybe this is kind of a gift.  If I spend as much time with her as possible and fit several years of life into a small amount of time I won’t have many regrets.  Maybe I am fooling myself but at this moment in time, I am doing better than most people would (in my unprofessional opinion).  I’m sure that will change and change back but I don’t care.

Now I need to figure out the next step as far as getting her into a school for the visually impaired.  This is definitely something that will be immensely beneficial to her and hopefully keep her mentally PRESENT for as long as possible.  If we didn’t live so far away from Perkins it would be a “no brainer.”  I’ve figured out harder problems.  I’m sure I’ll sort this one out soon enough.

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Lots of pictures

Posted by in Boston, John, Julie, Kat, Life, London, Rachel

Julie (5) in the swimming pool at a birthday party

Julie (5) in the swimming pool at a birthday party

Rachel enjoying the pool at Tony's party

Rachel (9) enjoying the pool at Tony's party

John at Tony's 4th birthday party

John (too old to admit) at Tony's 4th birthday party

London with a sandy face

London (nearly 4) with a sandy face

Boston (nearly 3) pointing at an airplane

Boston (nearly 3) pointing

Rachel listening to Mary

Rachel listening to Mary

Boston (nearly 3) pointing at an airplane

Boston (nearly 3) pointing at an airplane

Rachel (9) with Trevor

Rachel (9) with Trevor

More walking Trevor

More walking Trevor

Rach is thirsty after walking so much

Rach is thirsty after walking so much

Julie (5) the Duck Whisperer

Julie (5) the Duck Whisperer

Julie (5) with a face you can't say no to

Julie (5) with a face you can't say no to

Julie, Rachel, Boston and London

Julie, Rachel, Boston and London

Juliebean, Rachey, Boss man and Jack

Juliebean, Rachey, Boss man and Jack

This is Rachel, 3 weeks ago at her Granny's house

This is Rachel, 3 weeks ago at her Granny's house

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Sunday morning

Posted by in Boston, Julie, Kat, Life, London, Rachel

Had a pretty good day with the on kids on saturday.  I nearly cried once but held it together.  Rachel got to spend 3 hours with Mary’s dog today and was in LOVE.  I was so impressed how she handled him and loved him.  I can see how she will benefit from her own canine companion down the road.  I’m able to better understand her now that I understand the WHY now.   She is definitely responding positively to my new lease on our relationship.

Today we have a birthday party to go to for one of the little boys in daycare with London and Boston.  I am going to walmart to stock up on the things we eat a lot (and buy a present for the birthday party).  I’ve been a little behind keeping things stocked but, again, I am thinking/hoping things will slow down.

Tomorrow I am meeting with Developmental Medicine to talk medication.

Lots of pictures tonight.  Lots.  I also wanted to share that:

Rachel’s favorite songs are “Sun Goes Down” by Kenny Chesney and “Honkytonk Badonkadonk” by Trace Adkins.
Julie’s favorite song is “Fidelity” by Regina Spektor
London and Boston’s favorite song is “Old Mcdaonald had a Farm”  LOL

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Friday Night

Posted by in Kat, Life, Rachel

Couple of things.

1. If I could stop having the chorus from “Live like you were dying” by Tim Mcgraw playing over and over in my head I would really appreciate it.

2. Praying for a miracle won’t do shit.  There is a 0% chance of survival once the disease has run its course.  Rather than prayers send my family your thoughts.  Knowing that you are thinking about Rachel makes me feel better.  I guess its my anger that is making me sound so nasty in #2 and I apologize for that.  Genuinely.

3.  Everything doesn’t happen for a fucking reason.

4A.  I’m tired.  I can cry at the drop of a hat.

4B. The caseworker from the Mass Commission of the Blind was awesome today.  Very friendly, intelligent and genuine.  She saw me cry today.  A lot.

5.  Knowing that there is a cause for Rachel’s changes and behaviors has really helped give me patience to deal with her and to be close with her even when I have usually had a hard time feeling close.  I have had a hard time with Rachel of 2009 and getting the diagnosis has made her easier to parent.  I doubt that makes sense to anyone reading but it does to me.

6.  Her MRI came back as normal. I’m very happy about this but I can’t help but wonder if the radiologists at childrens would be able to notice a different between the new MRI and the one from May 2008.  I am giving the disk of the old results to Childrens on Monday when I meet with Dr Rappaport so hopefully we can have that question answered.

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Thursday night

Posted by in Julie, Kat, Life, Rachel

MRI was a long day.  She was, shall we say, very unhappy with me afterwards.  I did run into someone I know on the radiology floor and it was unbelievably nice to see a familiar face in that building who doesn’t have MD after their name.  Twas nice to see you, Mrs McG.

Julie is such a good sister and doesn’t deserve the abuse that seems to get a lot of recently.  I don’t think there is a better sister out there for Rachel, Julie is so caring and compassionate.  I’m not sure how she doesn’t internalize Rachel’s words and visuals but she keeps on going as if she has some deeper understanding.  I probably don’t give her enough credit.  I do and have for some time, whispered to Julie several times a day how great/kind/sweet/wonderful/helpful that she is.

Hopefully I will have the MRI results tomorrow.  Our kitten, Texas, is being neutered in the morning and after I drop him off I go and meet with Rachel’s caseworker with the Commission of the Blind.  I hope that meeting goes well and that she is friendly.  I imagine that she’ll start reading this blog so I need to be careful in case she isn’t.  :-)

Walking around knowing that your child has a disease with a 0% survival rate feels very much like a living nightmare.  I don’t know how other parents move on and live with it but I will try and find out.  Like I said, thinking that your child has a neuro-degenerative disease and getting confirmation are two totally different things.  Sorry if this entry doesn’t flow and my words are screwy, I can barely stay awake and my mind isn’t working normally.

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