// July 29th, 2009 // 16 Comments » // 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
// July 28th, 2009 // 2 Comments » // 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.
// July 27th, 2009 // 1 Comment » // 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.
// July 26th, 2009 // 8 Comments » // 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
// July 26th, 2009 // 3 Comments » // 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
// July 25th, 2009 // 8 Comments » // 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.
// July 23rd, 2009 // 4 Comments » // 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.
// July 23rd, 2009 // 13 Comments » // John, Kat, Life, Rachel
The girls are in school for a couple of hours this morning, London is playing Star Wars Legos at my feet and Boston is relaxing in front of Dora (apparently he had a long night and is a tired boy). I am leaving at 12 noon to take Rachel to Children’s for her MRI under sedation, the last of a several tests that I put her through for a long time. Whats the point of getting other tests right now, like the ERG? We already know what she has, we can pretty much guess what the ERG will show. She needs to be a kid as much as she can be right now. Once we get home (no matter how late that is) we (the 6 of us) are going to have lobster with my parents, my oldest brother and his wife/3kids and my middle brother.
Susan, my friend in Colorado who has three children (the oldest is the boy who died of cancer 2 years ago) posted an entry on her blog about Rachel and included a picture. I can’t look at it or even recall it in my mind without the tears welling up in my eyes. Rachel looks so “there” and so “present” in that photograph. The personality changes that have taken over her since she was 4/5 are overwhelming to me when I consider this all “in retrospect” and recall just how sweet and kind and gentle she was. Here is Susan’s entry about Rach: http://suzeo99.blogspot.com/2009/07/rachel.html
This kind of brings me to something else that I thought of this morning. If anyone who has met Rachel could forward me any full resolution pictures they have of her because I want to make some photobooks. I lost a lot of my older pictures a while back and would appreciate your help in getting me some new images so I can have some prints made. Its a long shot but I know there has to be some out there.
I am sleeping okay but you go to bed with it and you wake up with it. John is doing better than I am right now… But I really don’t think this has set in for him as I am the one who has done countless hours researching. Thanks for reading.
// July 22nd, 2009 // 7 Comments » // Kat, Life, Rachel
You can find a whole host of links and websites if you’re interested in looking but I will copy and paste a link that I found. I’m currently taking a breather after settling Rachel in to her room with a snack and a drink after having a total meltdown. I actually googled “violent outburst batten disease” and came up with the link below. If you want to learn about Juvenile Batten disease it gives a lot of good information. Please keep in mind that there are 4 kinds of Batten Diseases and that Rachel has Juvenile. The clinical trials for the other types do not apply to her nor do the progressions or information. Here is the link:
This all makes so much sense now (well, the symptoms). I guess “sense” is a relative term because I would really like to know how this is even possible. I think this has to be just about the worst way to die. I just can’t get over it. I hope that this stage of my grief (I guess its called that) passes quickly. While I want to crawl into bed and never wake up I have lots of people who love and need me to continue, with Rach at the top of the list. I did put her in the boy’s radio flyer and take her out for about an hour after she calmed down after the above meltdown (this post was left open for a couple of hours, hence the gap of time).
I’m sure I will write again soon about this, at least in the beginning… I will get some recent pictures up soon.
// July 21st, 2009 // 15 Comments » // Boston, John, Julie, Kat, Life, London, Rachel
Its been the best part of 24 hours since I got the news that I had been half expecting. I told John last night and it went as well as could be expected. I feel really sick to my stomach today, I’m not sure about him. My oldest brother, who is out here from KC, MO visiting for a week spent the day working on our large living room (the front room for the people that have been inside this house). It looks really good and is nice to get that big-ass project nearly completed because I am sure having less on my plate will help me deal.
Still haven’t cried. I’ve spent the day working at home, keeping the kids from doing anything dangerous but not really doing much with them and I have also called and made lots of “next steps” and informed the people that needed to know. I’m pretty much on “Worst Case Autopilot” because I need to get the right things in place and can’t lose focus because she needs my focus right now. I will do everything in my power so that she never finds out that she has Batten Disease.
Thursday: MRI under sedation (which might or might not show brain atrophy)
Friday: I meet with Rachel’s “Commission of the Blind” case to get started with a ton of paperwork. (KID FREE)
Monday: I meet with the Chief of Developmental Medicine to talk about what medication (if any) would benefit her right now. I have, for quite some time, wanted an SSRI for her. I still want to go ahead with that and hopefully we can get that started. (KID FREE)
London still isn’t walking on his leg but has learned to do this “inch worm” thing around the house and is somewhat mobile. His knee is definitely still swollen.
Julie and Boston are doing well. Boston is consistently obnoxious and totally untrustworthy but I have finally learned that he was my first “typical 2yo.”
Life is so fucking unfair. She did nothing to deserve this.
// July 20th, 2009 // 38 Comments » // Rachel
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…
// July 17th, 2009 // 1 Comment » // Rachel
While I was at Children’s Hospital today I swung by the clinic that does the EEG testing and I was able to bring home a copy of the report. I will type out the highlights here:
- During awake recording there was Fp2 sharp waves and spikes
- There is a well developed anterior-posterior gradient
- Generalized bifrontal spikes, left>right bifrontal spikes and intermittent left frontal 3 Hz rythmic slowing
- Normal sinus rythym (90 beats / minute)
- Photonic stimulation showed driving between 25 – 30mhz
Interpretation
1. Frequent bifrontal independent spikes left>right
2. Background is slow for this age
Clinical Correlation
This EEG is suggestive of an active seizure disorder of generalized onset of mechanism. The background slowing is consistent with generalized encephelpathy.
// July 16th, 2009 // No Comments » // Rachel
Me: “Rachel, here’s your cottage cheese.”
(I hand her a bright blue bowl with cottage cheese and a spoon inside it.”
Rach: “Can I have a spoon?”
Me: “Hun, its in the bowl already.”
// July 15th, 2009 // 2 Comments » // Rachel
Friday 830am with Dr Ware, a Developmental Psychologist at Children’s.
Monday 1130am with the School Principal and Director of Student Services
Next Thursday afternoon an MRI under Anesthesia (ordered by Neurology to compare to her previous MRI from 16 months ago)
Lots of others TBD.
// July 15th, 2009 // 3 Comments » // Rachel
Just got the EEG results back. Abnormal activity with a high risk for seizure activity although they didn’t capture any in her 20ish minute monitoring. More questions sent to the Neuro that I should have answered later today. I was really hoping for normal results because seizure activity would be the next “symptom” of juvenile NCL (Batten Disease).
Just happy to get the results, for better or for worse. I also spoke to the school Principal and the Director of Student Services today. We are going to have a meeting next monday at 1130.
// July 15th, 2009 // 4 Comments » // Boston, Kat, London, Rachel
3 hours at the ER later and London’s leg is NOT broken. He still won’t walk on it, poor little guy.
Today I should hear about the EEG and talk to Rachel’s caseworker from the Commission of the Blind.
My oldest brother, his wife and 3 daughters are coming out for a week and all of my family is having a BBQ at my place on Sunday. 3 brothers, me, John, 3 brother’s chicks, my parents and all of our kids. I hope it isn’t too much for Rach. I think I will have her be my helper to keep her focused on specific tasks, rather than get lost and totally overwhelmed.
Tomorrow afternoon, Rachel’s two teachers from last year are coming to take Rachel for a couple of hours. I have not told her yet. She is going to be so excited.
(This post was written one-handed with a very cuddly 2yo Boston in my other arm and lap. He might be totally obnoxious but he is still a baby inside. I love him!)
NEW THEME. Trying to get rid of the commenting problem. Could those that have been having problems leaving a comment please try it out now?
// July 14th, 2009 // No Comments » // Rachel
Rachel’s certificate from the MASS Commision of the blind. The river of denial dried up for a few mintutes but I quickly filed the certificate away so I can pretend like this isn’t happening for another short while…
Headed to the ER with London to take a look at his leg. Be back later.
// July 13th, 2009 // 5 Comments » // Kat, Rachel
#1 What is the BEST POSSIBLE PLACEMENT for Rachel next year. I looked at her most recent report from Developmental medicine tonight (16 pages) to try and frame a stronger and more informed picture of my daughter. I really don’t want to send her anywhere but at the same time I think it is unfair to try and place her with children who can see normally. One part of the results quoted her to say something along the lines of, “I want to play but they run away”. Totally broke my heart.
#2 What will the diagnosis be? Is it life shortening? Will she be able to attain normal cognition? Will she grow up and life happily ever after? Is Rachel’s “happily ever after” going to be different. Will she ever be happy? Why did her life take this path? Can we help Rachel make gains and catch up to her peers?
#3 How does Rachel feel? How does she view her life and her world? Does she hate me for all of the tests that I take her to? Does she hate me because I take her to the doctor more than I take her to the park?
#4 Can my daughter please have at least one friend. Just one. She must feel so alone and so sad.
#5 I hate this.
#6 Why can’t I have a magic wand.
// July 9th, 2009 // 1 Comment » // Kat
Was apparently acting a little screwy but it is all fixed now. < sarcasm > I know you were all waiting to knock my door down with blog comments < / sarcasm>. LOL
// July 9th, 2009 // 1 Comment » // Kat, Rachel
Our weekly trash day is Thursday (today). Easily my favorite day of the week.
I have spoken with different people at Children’s since writing on 7/7 and really need to figure the best way to communicate. I like a nice bulleted list but that seems really cold and unfeeling. Let’s try it without the bullets:
I found out today that the EEG on 7/13 will be “sleep deprived” meaning that on Sunday night she is to have no more than 4 hours of sleep, preferably from about midnight until 4am. I imagine that they are hopeful that she will get sleepy when she is having the test because a lot of “not known about” seizures occur when a child is trying to fall asleep and they want to capture that. Let me state that Rachel, to my knowledge, has never had a seizure.
Rachel has been cleared to have her MRI on 7/23 under sedation (not anesthesia). I was a little surprised that she was cleared given all of the concern surrounding the idea of general anesthetic and the ERG but we are clear and I am grateful because I *REALLY* want to see if there has been any noticeable change. The MRI she had 16 months ago was without contrast and the new MRI will have contrast.
I did some looking into the lab that is doing the testing of her DNA for Batten Disease and depending on the type of testing they are doing it says that it will take anywhere from 3 weeks to 3 months. If only we could pee on a stick for every ailment, much like a store purchased pregnancy test.
Ryan, my nephew that is the same age as Rachel is on his way from Connecticut right now to come and spend some time with us. I think it will be good for Rachel to be around another child her age and have a buddy. Let’s just hope he doesn’t eat a lot, right?
I’m trying to keep smiling but its a very up and down battle. One minute I am convinced that she has something really horrible and then the next minute I have myself convinced that there is absolutely nothing wrong with her (and that she can see fine). Mostly I am just keeping on top of my life, my children, Rachel’s care, the web business and crossing my fingers that she is ONLY going blind.
Who would ever thought that a parent would be hoping beyond hope that their child was “merely” going blind. I never knew that a child could have normal vision and then go blind in childhood until this year. We’ve all heard of the firework accidents, the rare infection causing blindness and children being born blind for whatever reason. What else don’t I know about? I don’t think I wanna know.
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