Tag: batten disease

Today is the official “Rare Disease Day” of the year – 2/28/2011.

As you already (probably know) Rachel has a very rare and fatal disease. The Batten Disease Disease Support and Research Organization funds thousands of dollars for research work into this disease.

Please consider donating to the BDSRA in Rachel’s honor. Thank you!

http://www.bdsra.org/donate.html

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!

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.

Rachel has been suffering from a nasty rash.  It started off slow around her shoulders and it has progressed down her body, leaving a whiteness in the pigmentation of her skin.  I’m concerned that it is an autoimmune rash and actually brought her to the doctor on Tuesday for an exam and blood work.  I asked the doctor to test her for Lupus markers and hopefully we’ll know in the next couple of days.  The rash is nasty and seemingly unrelated to medication or Batten Disease.  She is quite uncomfortable because its currently in her inner and outer thigh area so hopefully that will clear up or move soon. I’m also waiting on a Dermatology referral to Boston Medical Center.

 

Good News!  We are (me and the 4 kids) headed to Colorado for a quick trip to see the most AMAZING friends  and family in Kansas City and to cross The Flying W Christmas Round-Up from our Bucket List. Rachel has loved the Flying W since she was an infant so this should be a truly remarkable experience for her and for the other kids.  They are STOKED about going to the 8pm showing so they get to stay up!

 

This Saturday I am taking the kids (with the help of my Mom) to the Make-A-Wish Christmas party at Boston’s Logan Airport.  Apparently they have the party *IN* the Delta Airlines Hangar so I am really excited for the kids to see that.

 

Merry Christmas. 🙂  Today’s picture is the kids with Santa, taken at the Hull MA Carousel Shop.  I’ve put this picture in our yearly business Christmas card.  🙂

Lots of good stuff going on with work, Rachel changed to a new medicine and London was covered in spots (the chicken pox). Rachel has lost about 6lbs (I’ve found at least that much) and we ended this week with a ham dinner with my parents and brother.

Rachel watched “Ice Princess” tonight which is a movie that she used to watch A LOT but hasn’t seen it since going blind. She kept on saying things and asking questions that only a sighted person would be able to ask / say but it was obvious that she was recalling the visual memories of watching the movie years ago while listening as a newly minted blind person. I can’t describe the complexity of how that broke my heart in at least 3 different ways.

You may not know that I often refer to myself as “The Iron Maiden” because I “never” cry (it is a rare event) but thinking about what it must be like for her to not be able to see, how confusing things are for her. It sends me over the EDGE and my iron clad tear ducts fly open.

Tomorrow I am taking the girls for haircuts. Julie says she doesn’t want hers cut but will come along for the ride. Rachel needs her bangs trimmed. I believe Julie is declining the hair cut because she is obsessed with becoming a princess and I am guessing that she thinks all princesses have long hair. I should show her pictures of Lady Di and cross my fingers that she agrees to getting the wedge cut again (she looked so cute in that!).

I feel so cool blogging on a Friday night.  🙂

I took Rachel to her monthly girl scout meeting tonight and she had a good time.  It was hard to watch her try and weave a bracelet (to raise $$ for Juvenile Diabetes) because she can’t see and has a hard time with mental processing activities that require sight. I promised her that I would finish the bracelet AND she could buy it off of me towards Juv. Diabetes.  Such a good kid.

She is on day 3 of the lamictal.  She is definitely more alert now that the risperdal is totally out of her system and her appetite is MUCH lower.  I wouldn’t say that she is totally under control (behaviorally) but I think even the baby dose of lamictal (25mg for the first two weeks) is helping somewhat.  She hasn’t been in school since Monday but I think she will go back next week.

There is a possibility that the Juvenile Batten Disease drug trial – the first one ever – will be starting soon.  There has been talk of it as long as I’ve know about Batten Disease so I’m holding onto a shred hope.  Hope, even if only a shred, is a good thing.

The drug trial won’t be for a cure, it it to test out the safety of using Cellcept (Mycophenolate) on JNCL kids.  Cellcept has shown that it can slow down the effects of the disease on mice that have been genetically altered to have JNCL (Juvenile Batten Disease). (jist of JNCL and cellcept usage in knockout mice)

Featured Picture:  That’s me (Kat), Rachel, Julie and Auntie Jacquie.  A park ranger took our picture on Peddock’s Island…  (wiki on Peddocks)

The rash from the Risperdal is getting worse and the Lamictal “starter pack” was denied (I got the letter today).  I can’t keep her on the Risperdal with the rash like that so I’ll be stepping her down starting tomorrow, as quickly as possible.

I put a call into Rachel’s doctor within a minute of getting the denial letter so I am hoping she will call something else in (or a different version of Lamictal) tomorrow.  The Lamictal starter pack costs about $250 out of pocket….

Rachel is going to be (and going to feel) HORRIBLE this week so will likely miss school.  Send me a shout if you don’t hear from me for a while.

The picture:  This picture is of Rachel on her 5th Birthday with my Mom (Granny) and her baby sister Julie.

Rachel’s rash from (presumably) Risperdal has been developing over the last few months and covers a good portion of her body.  Its not an angry rash, I would say it looks more like goosebumps that are red in a few places.  This medication has been good to get the ADD symptoms of Batten Disease under control and help make for a happier day for her and everyone… BUT… she has put on nearly 50 pounds since starting it.  At her age she was expected to gain some weight as puberty is around the corner but 50 pounds is crazy.

I’ve been working on coming up with the next step for her medication (she, thankfully only takes Risperdal and Prozac) because this weight makes her uncomfortable.  I brought a list of possibilities to the Doctor 10 days ago and we agreed to start her on Lamictal which is an anti-convulsant medication that is the only medication certified by the FDA to treat Bipolar disorder (other than Lithium).  Apparently the “starter pack” of the medication is quite expensive and insurance is still taking its time…

I find this endlessly frustrating and time consuming.  Making multiple phone calls to get a medication that she NEEDS for an organic, degenerative brain disease seems terrible.  I’m absolutely positive that I’m not the first person with a sick kid who had to climb through hurdles and I’m quite positive that I’ll look back at this entry in a few years and laugh with all that is to come.

I’ve stayed up until nearly 2am to put this blog together and make it look good enough to put Rachel’s name on it.  It’s kind of hard for me to stay on top of everything when the children are awake, especially when Rach is home.

Not everyone who will read this knows about us so I’ll quickly explain that we are a family of 6 that lives in the Boston suburbs with 4 great kids.  Rachel is 10 and has (suffers from (I hate that term))  Juvenile Batten Disease which is very rare and you can either read more about it here or go directly to www.bdsra.org and the Batten Disease Support & Research Association will be able to educate you better than I can.  Our other children are Julie (6), London (5) and Boston (4) and they are truly the best kids (wish the food bill were a little cheaper but other than that… lol).

In the last year I (Rachel’s Mom) have been working on getting Rachel’s educational and medical needs met and more recently have done some fund-raising work.  We hosted a Lemonade stand on the fourth of July, had a table at Endless Summer and have started selling candles at Batten Candles.  The next major fund-raiser we are working on is a 5k Race / Walk in our beautiful seaside Hull, Massachusetts town (May 2011).

If you have any fund-raising ideas for Batten Disease Research, please contact us (and thank you)!

My oldest, Rachel, had Juvenile Batten Disease (CLN3)

What is Batten Disease?

Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs).  Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to encompass all forms of NCL. Continue reading “All about Batten Disease” »

Having to explain to my 9 year old daughter who can’t see very well that she can’t learn to ice skate really SUCKED! If only for one winter, I wish that Rachel can ice skate. Please let it be possible.

Earlier today Rachel told me the money she is saving is for a car. I gently reminded her that she can’t drive a car and she said her “person helper” would drive her in it. I told her she should have Julie drive her.

This sucks so hard. A nightmare. I have noticed she is having a harder time identifying her siblings. As of late she would confuse her brothers but now she can’t differentiate between her sister and brothers. She’ll walk into a room looking for me and if I don’t immediately answer her calls of “Mom, Mommy?” she immediately walks out because she can’t see me. Such a good kid that deserves a full life. I guess I better get moving because I don’t have as long as I expected. Its a very painful lesson. I’m currently looking into planning some mini trips for us when the weather warms up, doing things that can be DONE rather than just seen.

Lots of rage today from her. Her emotional filter is apparently on vacation (hopefully not a permanent one). I’m grateful, in some ways, that Julie, London and Boston are so young because they are doing great in the face of our daily life. But its hard because they cannot grasp the concept of her recent blindness and can’t remember to “keep the floor clear” (or she’ll trip and fall or break their stuff out of sheer frustration). Most adults I know can’t grasp the concept of her recent blindness, either. What does that tell you? My little 3 are awesome with her. I’m starting work with having them identify themselves to her but that will take time.

DO NOT TAKE YOUR LIFE FOR GRANTED!!!!!!!!!!!!!!!!!!!!!!!!!

is drawing to a close and I’m up by myself tonight (a special shout out to our cat, Krabs, who is sitting next to me while I type). Christmas was good, we went to my Mom’s for Christmas eve and raced home to put out the reindeer dust, milk, cookies and carrots. Santa brought Rachel the “babydoll” stuff she asked for, PIXOS for Julie, an army tank for London and the Buzz Lightyear “yard” that Boston has been talking about non stop. It was a really nice day and the kids have finally calmed down from all of the excitement.

Today I brought up our Geotrax stuff that has been sitting in the basemenrt for at least a year and the kids played with it for HOURS. For whatever reason we don’t have a complete remote control train for the set (either the RC or the train but not a matched pair) and I looked everywhere. The kids manually pushed the trains for hours and had such a good time. I was going to play with the wii fit tonight but I didn’t have the heart to put away their train stuff. They are such good kids

I am absolutely broken over Rachel and what her disease will mean for her future. It is so unfair and I try not to think about it because I just cry hysterically and it doesn’t do me any good. I’m very good about keeping my emotion hidden, especially when I have to. She made me a box for Christmas at school with her paraprofessional with a little note that she had me read out loud. And here I am sobbing but doing everything I can to not let her hear my voice crack. Her hearing has become quite acute as her vision has been failing and she picks up on things she didn’t used to.

I hate this disease and how powerless she is. There is no fighting what is to come. No treatment. No hope. My child is slowly fading away and is generally unhappy, anxious, unsure and not living a life filled with quality and happiness.

And all I want to do is crawl under a rock and die for every moment that I fuss at her for things out of her control. The natural guilt of motherhood has always been difficult for me but it is borderline suffocating now. Balancing 3 presumably normal children who make a lot of noise and hopefully have very long lives ahead of them while taking good care of Rachel and making sure she has good moments and opportunities in her short life. That balance is absolutely impossible to strike and fills me with incredible guilt.

And while I have this inner symphony of juggling and guilt and batten disease and giving them good childhoods, I put a smile on my face and take them places and cook them dinner and show them how to “whack and unwrap” a chocolate orange and making sure they use the correct “Terry’s” terminology. How do you have a normal life in the face of the disease? I’m not sure of the answer but I do know that I am working my ass off to try and make things normal and wonderful and happy.

The kiddos and I already planning to make edible valentines for all of their classmates instead of the lame box o’ cards.

We’re also planning to learn how to make the PERFECT homemade Carrot cake to celebrate the birthdays of my mom, brother and his girlfriend (in March). Anyone have a good recipe?

Gosh this has been a busy couple of UNEVENTFUL weeks! Just the way I want it! We had THE REAL Santa and his Elves pay a visit to our house on Friday night, complete with presents for the kids, the cats and Holly (our dog). The kids were SO excited!

This week is a short week at school and on Wednesday they are having “Polar Express” day and I’ll be going in to help out with that. Today at 12:30 a blind man is coming into Rachel’s special ed class to talk about being blind but Rachel gets out of school everyday at 11:15 so I’ll be bringing her home for lunch then taking her back in. I hope I get to stay and listen to him speak.

I hope everyone is enjoying this Holiday Season. I have plenty of pictures to post and will get around to doing that this week before Christmas.

Now tell me, what are your family plans this week? My children and I LOVE this time of year! If you quickly type out your traditions I’ll read them to my kiddos and maybe we’ll adopt some of your traditions. Thank you!!

Thanksgiving should be renamed: “Key Lime Pie Day.”

Today was a good day. Good food made by my Mom and awesome desserts made by my other half. Rachel had a good day today, she has been “entertaining” my cousin and his wife who are here from England. I spent 10 minutes watching her watch TV before bedtime tonight and was humbled by how much she overcomes on a daily basis and how truly little (very little) Rachel complains.

Life is so humbling if you stop and look around for a minute.

Love my kids. Love Key Lime pie. Anyone else out there love a good key lime pie? 🙂

I just found myself googling the 4 stages of grief only to find out that there are 5. Who knew?

I’m assuming that its normal to bounce around from one stage to the next and back again?

Anyways, here are the four FIVE stages of grief.

1. Denial (Check) and Isolation (No) (Doesn’t that make six stages?)
2. Anger. (Check)
3. Bargaining. (No)
4. Depression. (No. I’m so sad for her and what she will miss out on but I won’t give into depression and miss out on the good moments and the good days)
5. Acceptance. (No)

I can’t imagine the day that the warm sun rises and I actually feel acceptance.

I tried to spend a few moments today imagining what Rachel would do if she were in my shoes. What would be her plan of attack if it were her daughter with this disease. What would she do? Because whatever *that* is, is what I want to be doing. I need to get out of the overwhelming sadness I feel for her and the speechlessness of it. I need to start fundraising so there is never another child lose their eyes, lose their mobility, lose their mind. In Rachel’s honor I need to make a difference.

I changed the “About me” on the top right hand side of the blog to sound a bit more cheery. I don’t feel that cheery yet but I’m hoping to get there. I want to spend my “Kat time” (when I’m not working or with the children) on promoting awareness and fundraising for the www.BDSRA.org.

I start most of these paragraphs with I. I don’t know why.

I have talked about fundraising a few times since July but I don’t know where to get started. I haven’t gotten closer to figuring the “getting started” part in the months since July so I figure I better get started NOW or I might find that 2 years has passed and I’ve done nothing. And doing nothing is simply not an option.

Please email me at mrskatvon@gmail.com or comment if you have fundraising ideas that have worked for you (or someone you know) in the past. Also please contact me if you are willing and able to help. I definitely plan to have a raffle. I also plan to contact Rosie.

Thank you!!!

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