Back in the saddle

Posted by Kat in Batten Disease, Kat, Life, Rachel

Another preschool mom came up to me and said she had read my blog from when we were trying to figure out what was wrong with Rachel through getting her diagnosis and beyond.  And it dawned on me that I really haven’t blogged in a while and I really should.  I have a hard time with some of the comments I get from people when I post on Rachel’s Facebook page or even entries on here.  I’m 33 and I have 4 kids and I rock.  Sometimes people are going to say stuff that rubs me the wrong way and I need to learn to ignore them and remind myself that they’re only trying to be supportive.  Its hard to know what the “right thing” is to say.

So last week I took Rachel in for an EKG at Mass Gen. (an amazing hospital in Boston) and got the results this week that her heart is fine. Her Neuro (Dr Sims) requested that Rach get the EKG to make sure her meds aren’t affecting her heart.  Later on in the same day of her EKG I took her to Spaulding Rehab hospital and got Rachel fitted for her first wheelchair.

I remember a time about 3 years ago when I was hoping and hoping that my child was “just” going blind.  And now we have a wheelchair soon to be added to the family.  It’ll be pink with wheels that we won’t need to maintain and folds up.  Rachel is having a harder time with balance while standing and walking and her knees are turning a bit more inward while she does this shuffle walk.  When I walk with her we go arm in arm or I put my arm around her.  She is also having a harder time with the stairs and getting into the jeep and her school 13 passenger van.

Her appetite is very healthy.  She takes seizure meds 3 times a day, just started on Abilify (an anti-psychotic) in the AM to help with her agression and at night she takes Klonopin and Prozac.  Kids with her type of Batten Disease struggle with sleeping as a part of the disease and dementia so we kind of have to load her up at night to get her to fall asleep (and give her a book on tape to listen to).

This disease sucks and there isn’t a damn thing I can do about it other than just be as supportive of her as possible, make sure her school stuff is appropriate and ever changing and keep on top of her meds.  I also try to remind myself daily that when she tells me for the 5th time in a day that she hates me or that I am a bad mother its just the monster of a disease living inside her head.  I’d give up everything I own to spend a single day with a normal version of my child just to see how badass she would be.  She is amazing in her own way now but I’d love to see a non diseased version of my child.  She’d probably kick my ass and make me make her 10 batches of cookies.  Just a daydream….

I’m also in the process of trying to sort out our living arrangements.  We have a 4 story house (3 sets of stairs inside) and a flight of stairs to get to our front door.  She won’t be able to navigate it forever so I need to come up with a solution to this before it becomes too dangerous.  A ramp? Maybe… but we don’t have the room in our first floor to put a bedroom and handicap accessible toilet with a separate living area from the “normal” kids once her brain becomes more affected.

Between work and the kids my marriage is kind of in the toilet right now but I’m hoping we’ll just hold on until it gets better because we just don’t have the time for each other that we should.  Divorce rates amongst batten families are very high and its a fact I ignore and hope for the best.

Thanks for reading if you’re still reading.   My other  3 kids are healthy and happy, albeit always asking for stuff and eating me out of house and home.  I hear that is what normal is.  :)

Photo:  Last weekend we went to the Drowned Hogs swim (in the Atlantic Ocean) to raise money for our local community service organization that helps families in our town with computer training, legal advice, food, thrift shop and book store.  John, Julie and I swam while my parents and Sue kept the kids.  It was such a cool experience.  Julie went as a vampire, I was the devil and I dressed John up as Redfoo from LMFAO.

JJ and Mel

Posted by Kat in Batten Disease, Friends, Kat, Life

My dear BFFs from Colorado Springs sent me a beautiful margarita bouquet yesterday to cheer me up from the rough day I had last week.  I found out that Rachel is #9 of 30 in the study for Cellcept and that the earliest she would be able to start is late spring.  It was expected to everyone but me, I had unacceptable high hopes and felt really let down afterwards (my own fault).  This is what the card said from my dear friends (I’m writing it here to keep for forever and maybe to steal and reuse on someone else one day):

We may be separated by miles,

but your tears do not fall alone.

Your triumphs we celebrate,

Your grief we share,

We love you. xoxxoxoo

- JJ & Melissa

Rachel and her Mom

Posted by Kat in Kat, Life, Rachel

Rachel and I had a great day at Endless Summer talking up the crowd for our 10/23 road race!

Family, Life, Race Update

Posted by Kat in Batten Disease, Blog, Boston, Bucket List, John, Julie, Kat, Life, Rachel, Research

We are all back to school doing full-day classes. Rachel has settled into 5th Grade, Julie is loving 2nd grade, London can’t wait to go to Kindergarten everyday and Boston is enjoying going to full-day Montessori. Boston has been acting up A LOT so I am trying to find ways to give him 1:1 time and so far I’ve been taking him on morning bike rides before school. This morning we went to the beach because we had a few minutes to spare and looked for shells.

On my walk home from Julie and London’s bus stop I was lamenting to myself that getting all 4 kids ready for full-day school in the morning (NOW) is easier than it was when it was only Rachel who was going to school.  I can only imagine what the neighbors thought while Rachel screamed and cried and yelled and hit us while we got her dressed in the morning and that is pale in comparison to the intense sensory agony she was in while we brushed her hair, her teeth or put socks on her.  I am so grateful for medication and how it has given us intermittent good times with her at home and substantial amounts of good time at school, and with Granny or one on one with someone.

Tomorrow we are running our annual jewelry table for Endless Summer (www.endlesssummerhull.com) with a twist because this year we are seeking runners, walkers, volunteers and business sponsors as we are raising money for Juvenile Batten Disease.  The race planning is going very well and we are getting a lot of buzz around our town through all 3 schools, loads of residents and our customers.  I am very excited about this race, c’mon October 23rd!

We have put Rachel’s name in the hat for the trial and are waiting to hear as to when she can start  I have filled out all of the paperwork, caught her up on vaccinations and have gotten permission from Dr Sims (Rachel’s Neuro at Mass General) to be her local doctor.

Things we have planned?  Outside of the upcoming road race I have two pretty giant things in store for my kids.  A day or so after Christmas we are driving down to florida and renting a house with a pool and will spend our Winter break in the warmth.  :)

Next summer?  A few days after school lets out I am taking a complete cross country road trip with my cherubs going from Boston to California and back.  We are also planning to drive north for a few days and spend time with James and his family (James is Rachel’s biological father).  I know people have asked me why I would bother doing that as James has been out of her life (by his choice) for many years but really this isn’t about me or about him.  This is about the kids.  I think it will be great for my 4 children to meet their twin sisters.  Technically they are only Rachel’s half sisters but my motto has always been “You can’t have enough people love your kid.”  (Or in my case, kids).  I have a lot of planning to do for that but the details are all on hold until after this road race.

London especially wants to dip his toes in the Pacific ocean, his life’s dream is to live in California and drive a minivan.  I figure a good test drive through Cali could help him to see if this is something he wants to aspire to do or not.  Yeah, he is barely 6 but he talks about it everyday.

Life is too short to waste it waiting for things to happen so you can move forward.  Move forward, move things into place.  Make things happen.  Your life could be over tomorrow.  Live without a lot of regrets.  Live enthusiastically.  IF we only know, truly, how many people in this world, in America, in your own town, maybe even on your street, who are fighting for their lives…  Just thinking about it is very humbling to me.

- With love, Kat.

Today is a great day!

Posted by Kat in Batten Disease, Birthday, Fundraiser, Halloween, Julie, Kat, Life, London, Rachel

Today is my 33rd birthday so I imagine my Mom is once again thrilled that she is no longer pregnant with me (I am mostly joking lol).  I was born over 3 weeks late and weighed over 10 pounds so I really can’t blame her.  Thank  you Mom, aka Eileen, for giving me life and putting up with my crap, foul language and obnoxiousness all of these years.  :)

I also want to thank my Mom for being the first to sign-up for Rachel’s road race which is in 2 months.  I can’t say I was outright nervous that no one had signed up because I know people are really busy with “back to school” whether it is their child or grandchild headed back in the next few weeks.  I guess my Mom had mental telepathy and for that I am so grateful.  We have one official walker!!!!

This week I am finalizing the Sponsor information for businesses who can give over and beyond the registration fee as well as walkers and runners who will ask their friends to donate on their behalf.  Plus the prizes and raffle items.  I have never done this before and got some really great ideas at the Batten Disease Golf Tournament I took John and the girls to yesterday.  They raised about $30,000!!!!  My goal is to raise $10,000 this year for our walk/run/raffle.

Have a great day today if you read this entry!!!

Photo: Rachel (6), Kat (?) and Julie (2.5).  Not really easily seen is London who was 8 days past his due date and born the next day.  We were at a pumpkin patch in Colorado.

Childhood Dementia

Posted by Kat in Batten Disease, Kat, Life, Rachel

I came across a guide I hadn’t seen before detailing what its like to be a child with dementia.  This one was written by a Niemann Pick Group (Niemann Pick is like Batten Disease except those affected kids can’t metabolize cholesterol) but is fully applicable to Batten Disease and the kids who are affected.

http://www.nnpdf.org/documents/ChildhoodDementias-US-FINALVERSION.pdf

Many “bad” behaviors from dementia have trickled down to my younger children and there is no guide to fixing those… Hopefully as the little ones get older and mature certain behaviors and attention seeking issues will sort themselves out. Their big sister, their role model is losing her mind and we can’t stop it.

Here is the dementia guide that the BDSRA put out.  <link to guide>

September 2011

Posted by Kat in Batten Disease, Bucket List, geocaching, Kat, Life, Rachel

After the recent heat wave affecting New England we (me and the kids) have decided to postpone our summer road trip  until September.  Its a good excuse to blow off a little school but more importantly the weather will be more temperate and I won’t have to deal with 110 degrees while strolling through Hays, KS or Terre Haute, IN.  We stayed there last year in our travels and both were little slices of hell on earth.  Neither my kiddos nor their Mom do very well in such high heat.

We’ll be driving out to Colorado and hopefully staying at the Garden of the Gods Campground (they don’t close until September 30th) for about a week and hanging out with incredible friends (they can only be found in one place apparently lol).  We were considering staying a while but the Colorado Springs School for the Blind isn’t sure if they’ll be able to provide programming for Rachel.

We’ve generally traveled route 70 and took route 80 home once but we are open to suggestions.  Any good road stop ideas?  I really want to go to Niagra Falls this time around…. but I hate the drive through upstate New York.

Planning to go to the Flying W for dinner, Santas Workshop for some fun, Geocaching, then float down the Arkansas River and we (me) are looking to do some stock friendly trails with the Jeep while we are out there.  Every summer seems to be a little more difficult than the last so we have no choice but to take life by the horns……………..

Cinnamon Buns

Posted by Kat in Food, Kat, Life, Rachel

What started out as my plan to make a special cake for our 2-year diagnosis anniversary turned into a desperate need of Rachel’s to have cinnamon buns.  Since we are a family that likes to roll with whatever comes to us, I switched gears and made what the little angel wanted.    (Anyone get the Lilo and Stitch reference to “little angel?”).

Here is the recipe for Cinnabon Cinnamon Buns:

Cinnabon Cinnamon Buns

Yeah.  I know the picture is blurry but you have to imagine my life.  4 kids, 1 great niece  helping with my oldest and constant email/work requirements and everyone is grouchy because I hadn’t fed them dinner yet. 

Nearly 2 years

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

Tomorrow marks the 2 anniversary of Rachel being officially diagnosed.  Its been a hard 2 years but I’ve worked my ass off to make it as fun and as successful as this time could possibly be.  There are huge marks of decline in her but at the same time we can’t ignore her infectious laugh, her record setting appetite, her love for her Granny and dozens of other things that prove she has a good quality to her life.  That is all that this is about now: Quality of Life.

I have this ridiculously high in calorie cake that I plan to make tomorrow to mark the occasion.  (Chocolate Snowball Cake).  If I die from clogging my arteries with this delicious cake please note that I died happy. 

Here is a picture I took of  my A-Team last week which visiting our new shop in Weymouth (they never look at the camera at the same time, lol):

Rachel, Julie, London and Boston (July 2011)

This is a picture of the wonderful person (Sue) who took my husband and kids out on her boat last week.  We went to fascination and she won a WHEEL SPIN!!!  She might kill me for putting this picture on the blog but I wanted to give her an honorable mention because there are very few people in the world who are so giving and I really appreciate her in our lives.

Sue at Fascination

I took Rachel and the kids to the Hull Fire Station for their safety day.   Her siblings climbed up onto the Jetski (on trailer) and where they go, Rachel has to go  (my rule lol) so I heaved her up:

Rachel on the Hull Fire Jet Ski

Have a good day if you are reading this.  I’ll post another entry with more pictures tomorrow.

4/1/2011

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

Nothing too special to write today. I’ve promised John not to “get him” on April Fools Day today. Last year I had him believing the trash company wrote us a nasty letter and fired us because of the volume of our weekly garbage output. He was fuming and about to call the trash company and then I said to him “April Fools.” I’m not sure he has forgiven me for that. LOL

I started going back to the gym and have done a few Yoga classes (free child care, woohoo!) and its good to work out again but the kid free time is priceless.

Rachel and Julie have a father-daughter dance tonight for girl scouts, and Julie and London have Art class after school. I have a 10am yoga class today (the boys are going to childcare at the Gym) and all I want to do is stay home and watch the drizzle from my couch with a cup of coffee in hand.

Grand Mal (Seizure #3)

Posted by Kat in Batten Disease, Health, Kat, Life, Medical, Rachel, Seizure

At around 8am today Rachel had another seizure. She was taking her pills with John (had swallowed 2 of 3) and she went into a trance and started turning her head almost in rhythm with the gears of a clock’s “seconds” hand. Couldn’t get her to reply and we laid her on the couch on her side. Convulsions lasted for minutes and I administered the diastat rectally.

I’m sure some people read this blog and think that sucks and on some level think that this is normal and expected. Not a big deal. But this is my healthy kid and this is only the second seizure we’ve seen at home.

This is scary. It makes my stomach hurt. She might be terminally ill but she is healthy on the outside and seizures are harder for me to witness than the night I got her official diagnosis.

She is passed out on the couch missing a fun day of green. So unfair.

What do people live for?

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

I took Rachel to her second appointment with her Pediatric Rheumatologist and he confirmed that she does have Lupus, also known as Systemic Lupus Erthymisomethingerother. How does a beautiful and innocent kid end up getting an early death sentence and Lupus? It’s total bullshit and rather than be angry this fine evening I would like to pose a question to those folks that still read my infrequently updated blog.

What do you live for?

Last year I spent many weeks living to cross off items on the bucket list, taking my kids to multiple states and experiencing all sorts of awesome things. Already this year I have driven my kids down to Florida and back and watched the miracle of Rachel and London learn how to swim. I have personally been living to make sure Rachel, Julie, London and Boston get to experience countless amazing days while Rachel can.

This year I want to continue this mission but maybe travel a little less (my new Jeep is not so good with gas mileage). Planning on sharpening our camping skills, maybe get a little sailboat. I’m looking for more adventuring ideas, things to enjoy, experience, to LIVE for.

So… What do you live for?

Took this picture of Rachel today. We clocked 100 miles with the Jeep’s top down today. It was 65 degrees in Massachusetts today!

January

Posted by Kat in Batten Disease, Blog, Bucket List, Julie, Kat, Life, London, Medical, Memories, Rachel

Can’t believe it is January already. Julie started back to school a few weeks ago and is enjoying her social time, she is pretty overwhelmed with all of the stimulation but loves it overall. London is starting preschool next week in the afternoons and they are all going to Art Class again starting later this week. Rachel was kind of upset about not going but I said she could bring some art supplies to Granny’s house as she’ll be at my Mom’s for her regular Friday night “date.”

Rachel is about 95% blind. The other five includes a spec of vision (literally a spec) out of the corner of at least one eye and she still has “light / dark perception.” She is handling it as well as can be expected. I try to get her to talk about it and how she feels and if she has any questions about her blindness and for the most part she is as happy as can be expected (and then some). She and I are going to the University of Rochester next week for a “check in” to see how she is progressing as they are studying Juvenile Batten Disease. My fingers are crossed that her disease progression is considered slow for her age.

The day after we get back from NY I am driving down the kids to Florida to stay the week in a house I booked months ago with a heated pool in the back porch. One day at Disney (can’t believe how expensive it is) and another day at a petting zoo. Our Make a Wish trip was amazing yet difficult for Rachel (and us) because she wasn’t on the right medication and it was so hot. My brother, nephews and my other brother and his girlfriend (Andrea) are all planning on coming down during the week.

Get out your fine china (I am so not fancy enough to ever own any). Wear your best jewelry (I made Julie wear her new princess earrings today despite her fear she might lose them) and treat this day like its your last on earth. Some days are harder than others but you should try every single day.

December Trip – Foul Ball

Posted by Kat in Bucket List, Colorado, Kat, Life, Vacation

Let’s see. Me and the kids planned a Trip of a Lifetime from Boston to Colorado, stopping to see family in Kansas City. The goal of the trip was to see the Flying W Christmas Round-up (Bucket List item).

It didn’t quite happen that way.

My minivan broke down in PA (water pump died and overheating commenced).

Once the van was fixed we hit lots of snow.

We ended up getting to Kansas City and stayed a few days but saw more weather heading through Colorado and Kansas and I decided it was safer to drive home.

I will do this trip again next year (earlier in the Flying W Christmas Season) and we will GET THERE!!!!

Sunday Night

Posted by Kat in Batten, Christmas, Kat, Life, Rachel

Just added a Christmas theme to Rachel’s site and updated on her rash. Check that out here.

I am taking the kids to Colorado again soon. It will be a quick trip before Christmas and I’m excited and nervous. Excited to see great friends and family, ecstatic to take the kids to see the Flying W Christmas Round-Up (its on THE list) but a bit nervous about the weather. I’ll definitely come back soon enough to not miss Christmas (KNOCK ON WOOD). If you see a tall geeky looking guy floating around Hull looking lost, buy him a coffee (medium regular please).

This weekend we have the Make A Wish Christmas Party which is being held in the Delta Hangar @ Boston Logan Airport. It will definitely be a once in a lifetime experience.

We’re opening up a second shop on January 1. I have been so busy working on that, staying up extremely late with John. I’ll be glad to get that part over and I’m very excited to see how the new shop plays out in the first couple of months. Lots of good things to come in 2011! Let’s hope they have that drug trial, that Rachel is eligible and they see a slowdown in disease progress. If only…

Kids and Santa 2011