Normal day

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

Rachel was really normal today.  I know that was partially because I didn’t see her all day but before her first day of school she was pretty good getting ready and after school all the way until bedtime she was pretty manageable.

When your daughter with a rare and fatal disease has a normal day you wonder if the bloodwork somehow got screwed up at the lab.  And then you realize how crazy that sounds and question your sanity.  She has the symptoms.  She is going blind.  She has this disease.

In happier news we are going to Disneyland due to the absolute kindness of Make a Wish!

And… JULIEBEAN starts Kindergarten tomorrow!!

Thursday

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

Best day of the week!

We’ve had a small virus passing through our kidlets starting with Boston and London and yesterday moved to Julie and Rachel.  Fever, lethargy and all gone after a good night of sleep.  Rachel had a headache yesterday and then got a fever and went to bed before 6pm and still (at 715am) has gotten out of bed yet.  Julie fell asleep at 7pm with a newly acquired fever and has been up for at least an hour.   Now I am sitting here wondering if Rachel has had this virus for longer because of her disease?  I made chocolate chip cookies for the kiddos and a pot of tea to try and make her headache go away (caffeine) but she wouldn’t touch any of it.  London was thrilled for the cookies.

Holly is doing well.  Its still a learning experience having a dog.  Knowing how much to feed her and at what times, knowing when to take her to the bathroom.  Seriously like bringing a new baby home from the hospital.

Julie is excited for Mrs Buttkus, who I assure her, DOES NOT kiss butts.  I am sure that her new teacher has heard all of the butt and butt kissing jokes before and has a way to get them to stop.  LOL  I am going to probably cry my eyes out putting her on the bus (which I am not sure I want to do but am going to do anyways because I have to let go a little bit in order to be the best possible Mom to all 4 children).

London is so excited to start preschool.  He is going half days and will have the same preschool teacher that Julie had for the last 2 years,  He is going to LOVE it!

Boston who flipped out for several days about a Buzz Lightyear toy which I finally bought him, has since played with Buzz in the sandbox and then “washed” him when I wasn’t looking.  Guess which newly acquired Buzz Lightyear toy doesn’t work anymore?  So annoyed.  Hopefully we’ll get some sound back because he is, as you guessed, is flipping out again.  I should laugh more about this or he’ll drive me nuts all on his 2-year-old-cuteness own.

Woke up to a fantastically chilly morning today.  Perfect way to start the best day of the week.  Now to get the trash out…

We’ll see

Posted by Kat in Batten, Kat, Rachel

It is apparent to me that people who need sleep the most get it the least.  Either my mind keeps me up or I am too stubborn and need to finish just one more thing.  Just.   One.   More.   Thing.

John and I fell asleep early tonight and at 3am I shot out of bed and ran downstairs to take Holly out to walk.  What a good girl! No accidents!

Yesterday I had an intake meeting with Pediatric Palliative Care and I requested a Personal Care Attendant (PCA) to help Rachel get ready in the morning because we have had such a difficult time getting her ready in the morning for YEARS.  They also have a volunteer program and we talked about having someone come into the house and help me with the children while John is working at the shop on Saturdays.  We’ll see…

Today (Wednesday) I have an intake appointment for Rachel with Psychiatry at Childrens Hospital to discuss Rachel’s medical situation and behaviors at home and see what type of medication we can give her that won’t lower her seizure threshold but will take the edge off of her extreme moods (without making her a zombie).  Let’s hope this is possible, I kind of feel like I am asking for something that can’t happen.  We’ll see…

Tomorrow Night (Thursday) we have two volunteers from Make-A-Wish coming to talk with the 6 of us about Rachel and her wish.  They know about her cognition and attention issues but I’m hoping she will have a good night and be clear.  She often has heightened anxiety when in new places or with new people and can become extremely silly.  We’ll see.

All of this is such a surreal experience, like a really bad dream.  The weather yesterday felt very cool and I briefly forgot about the diagnosis and felt so good and hopeful about all of the fun shit we’re going to do this fall and winter.  I quickly slapped myself into place and felt really down.  I think the funny part about this is I sound really unhappy and miserable, maybe like I am not getting out of bed or showering.  I WISH.  I don’t really wish but I’m certainly not letting this stop me from being alive and participating both as a person and mother.  Just about all of the horrible crap I am feeling is contained within, while I am hanging out with the children, making dinner or running errands.  Except for the occasional set of puffy eyes, you would never know if you saw me out with the kiddos.

Julie had a meltdown while Palliative Care was here.  It started off as she needed my help playing Webkinz every 60 seconds but then it progressed to where she was crying over tasks on that game I know she can complete.  I had to send her up to her room so should could have a good flipout and Annie (the social worker from Palliative Care) suggested that Julie was feeling upset and was simply seeking my attention.  It never dawned on me before but it makes complete sense.

Boston WONT STOP asking (well beyond the point of obsessing) about a Buzz Lightyear toy so I caved a few days ago and bought it on amazon.  It comes today.  Hopefully he will be satisfied for a few days and will stop following me around in misery while carrying his HTML printout of the toy and description.  Fingers crossed because that sucks the life out of me.  Maybe he is seeking my attention as well?  I kind of think that he is just being a regular 2 year old and DRIVING ME CRAZY!

The boys have their birthdays coming up and I am trying to decide whether to do a “movie theatre party” at the  new cinema that opened up at the Hingham Shipyard or to have a home-grown party and invite everyone.  If I can have my Mom on Rachel duty (which I am sure she is reading right now and saying “yes, of course”) I am leading toward the joint, home-party.  Any suggestions?

I have been really, unimaginably lucky to have found the BDSRA and all of the kind parents that belong.  The amount of information I have received from them has been tremendously helpful and the only saving grace of this shit diagnosis that I still have a hard time accepting for my Rachel.

If you’re reading my blog, leave a comment and say hello.  If you want to trade blog links, be sure to let me know.

I turn 31 today

Posted by Kat in Batten, Kat, Life, Rachel

It doesn’t feel much like a happy birthday.  The crap I was pondering last night in regards to Rachel, the disease, school, etc is really, really depressing.  I guess moving past the constant crying stage moves you into the anger and depression stage.

This is a nightmare.

Julie and Julia

Posted by Kat in John, Kat

Went to the movies with Andrea and my Mom. Movie was slow but the meat of the movie was good. I think John would have liked it. He definitely would spent a ridiculous amount of money at the grocery store the day after watching it, bringing home cheese that I have never heard of and Julie might describe as “gross.” He wants to get into cooking more now that we have basically stopped all service calls and I think that would be good for everyone in our little family of 6. I need to be more receptive to his cooking conversations.

Its flipping hot outside

Posted by Kat in Julie, Kat, Rachel

We had these great plans for today but we realized Edaville is closed this weekend (they close?) and that it was ridiculously hot outside. We stayed home all day Sunday except for the excursion that John made to Home Depot. I don’t do well in the heat and neither do the 4 kiddos. John says it doesn’t bother him, you know since he grew up in Texas and all, but I don’t buy it for a second. He definitely hates the heat, too. I’m sure he’ll reply to this entry and deny it but BELIEVE ME he hates it. LOL

Julie’s ability to understand thing is really amazing to me. She still has the occasional meltdown but when we are at home she functions like a 12 year old. Totally self sufficient, stays out of trouble and leaves the other 3 kiddos alone and just understands so much. She gets that Rachel needs some extra help. She knows not to take it personally when Rachel says or does something that is less than wonderful. I am so lucky to have her as a daughter and a friend and I don’t think I give her enough credit.

I am on a mission to have a lot of our digital photographs printed for both some new photo albums I am working on as well as enlarged for mats and frames to be put on the wall. This place is actually starting to look lived in! Unfortunately it can be really depressing trying to organize your photos and know that at some point down the road that one of the main actresses in our play will leave our acting company. I have come up with a few albums so far.

Kat / Rachel (pre John)
Kat, John, Rachel, Wedding, Newborn Julie
Colorado (basically Julie’s 1st birthday, London’s pregnancy, birth, and the first year)
Massachusetts before diagnosis
July 2009 – December 31, 2009
2010 (and so on)…

Rah Rah

Posted by Kat in Batten, Kat, Rachel

John and I went to see the geneticist and had a good talk with him about Rachel, the diagnosis, etc. The DNA lab at Mass General offers the CLN3 test (for Juvenile Batten Disease) at the super low price of $75 but Children’s Hospital does not honor that price and it would have cost us upwards of a thousand dollars. Needless to say that I put a call into the DNA lab at MGH so John can go in directly and have it done at their lab.

When we got home from Boston, (across the street from our house is a big town field) the first night of football & cheerleading practice had begun. The sight of the cheerleaders who were doing their first night of practicing directly across the street from our front door was a bit upsetting to me. The cheerleaders are about the same age as Rachel. I’m not upset at the girls for practicing, I think it is great that they are and they have every right to be. I’m crying because that will never be Rachel. The what should be / could be really kills me. The only thing worse than the shoulda/coulda is the thought of her realizing what is happening to her. When the rest of her vision goes or when she loses the ability to walk I am sure she is going to be much more aware than she is now.

I can hardly bear the thought of that.

Soccer!

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

I signed Julie and London up for soccer!!! They will start in the fall. I have even offered myself as a coach for the 3 and 4 year olds! Poor Boston is going to be so upset but he is a little too young to start playing.

Today I also called about a sports group in town for kids with special needs. So many special needs activities are visually driven so I am not sure if there is anything that Rachel can participate in. I’m excited to speak with the woman involved regardless of what they have to offer.

Tomorrow John and I go into Childrens Hospital for a little bit of genetic counseling. The likelihood that John is a carrier of JNCL is very small. For those of you who are new to my blog, Rachel is the only product of my first marriage and as this is an autosomal recessive disorder, both biological parents have to be carriers for the child to become affected. The chances are very small that John (the biological father of my other three children and wonderful husband) is a carrier but we definitely want to rule out the possibility.

I am going to volunteer for a short while during Rachel’s last day of Summer School tomorrow. It will be nice to see how she interacts with the other children in her class. I feel really badly that I wasn’t able to make it into volunteer in Julie’s class during summer school. I used to volunteer a lot more than I have been able to recently.

Life is so beautiful yet so cruel

Posted by Kat in Batten, Kat, Life, Rachel

Overall a good day

Spent a few hours getting Rachel checked out after some vomiting at school and some very strange behavior and eye movements at home

Hung out with her after the little 3 went to bed

Had a good, fun night with her

Now here I sit crying my eyes out because she won’t become a mother, she won’t travel, she won’t have a spring break vacation. Because she will die. Because there is nothing that I can do to save her. I am so angry and upset. If you know me you probably know that I think prayer is a useless activity because it doesn’t save anyone and doesn’t bring us the miracles that we so desparately seek. I’m not sure who I am angry at. Maybe I do believe in a higher power. If there is an all knowing, mighty higher power, why do horrible things like this have to happen.

Everything does NOT happen for a reason. That is just some crap that people feed themselves so they feel better at night.

Well. Its night and I don’t feel better. I want to wake up from this nightmare. I want to take this away from Rachel.

You never realize how much in your life becomes meaningless until something like this comes crashing into your life. I hope everyone who reads this entry won’t ever have to realize that.

I hope I don’t alienate too many people that I care about with my Godless existence. My Christian Mom still loves me so you should too.

Fridayx

Posted by Kat in John, Kat, Life

Are there any good songs about Friday? I know that Saturday has a couple.

Julie, London and Boston are with me playing on the Smart Cycle that we have had since late last year but they have barely used. Its going well, I am glad that I let it collect dust for a while because they are really enjoying it. Rachel is on the front porch organizing her stuffed animals. We are all waiting for Stephanie from Mass Commission of the Blind to arrive.

Quiet day at home today with a handful of people expected to stop by. Maybe I’ll fill up the pool later.

John and I went out last night after the children were fast asleep. My middle (an admittedly very HOT (lol)) brother came and sat for us while I took John out for a couple of drinks. We rarely go anywhere together (like once or twice a year) so it was nice to go out together but bad that this was the first time we were alone and basically talked about “the situation” and how we feel and what is to come. It was good that we had a chance to talk but bad that we had a chance to talk. I’m sure that has to make sense to a few people on here..

A few things

Posted by Kat 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.

Monday Update

Posted by Kat 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.

Posting information

Posted by Kat 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.

Last day

Posted by Kat 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.

Lots of pictures

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

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

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

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

London (nearly 4) with a sandy face

Boston (nearly 3) pointing

Rachel listening to Mary

Boston (nearly 3) pointing at an airplane

Rachel (9) with Trevor

More walking Trevor

Rach is thirsty after walking so much

Julie (5) the Duck Whisperer

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

Julie, Rachel, Boston and London

Juliebean, Rachey, Boss man and Jack

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