Today is rare disease day. Please take 3 minutes of your time today and submit a letter to your local and national elected officials and tell them that rare diseases are important to you. If this were your child and you asked me to submit a letter, I would submit several. You never really realize how “frequent” rare diseases are until its your child who gets diagnosed with one. Thank you!
Took this video of Rachel over the weekend as she was determined to be able to climb the rock wall on our swing set again.
This feels like a million years ago. October 2001.…
It was about this time 6 years ago that I found out that I was pregnant again after just having 2 babies back to back. What a rough time that was in my life but I am so glad I got through it and have this crazy life with 3 kids really close together and Miss Rachel. Of course I wish things were different, that Rachel was genetically normal, but as I repeat to people at least once a day… you can’t pick your deck of cards, you simply have to play with the cards you have (good and bad).
Picture: This is London Jack as a baby. He is such a good boy and I must make more effort to give him the attention he often gets looked over for because he is so quiet and amenable. This entry is to remind myself to do something special with him before the end of the week.…
Happy to report that after a weekend of the girls puking and Rachel having a seizure on Monday at 4am, both girls are well and back to school (and Rachel back on her meds!). Most parents don’t think about the vomit virus, more than feeling bad that their kiddos are sick and how gross cleaning up puke is. And while I agree that it sucks to clean up puke and I hate when my kids feel sick, getting the vomit virus is more than that. When Rachel cannot take her meds we run the risk of her having a seizure and that is exactly what happened this weekend. With every grand mal seizure another piece of Rachel is lost, a piece that will never come back. :(
In brighter news I attended a Batten Disease Fundraiser on Saturday Night in Swansea, Massachusetts that had about 350 people in a beautiful event hall with dinner, dancing and a comedian. At the end of dinner, before the comedian started Moe (a father of 2 CLN7 boys) and myself gave brief talks and at the end of my talk I presented Moe and his wife Jean with the $25,000 that we raised through Team Rachel Road Race in October 2011. Jean and Moe will be giving the money to research because they have a registered non-profit and can donate directly to Dr Cotman who researches Batten Disease at Mass General Hospital in Boston (which is the same hospital where Rachel receives Batten Disease care).
At this point I am looking into planning a Batten Disease Dinner / Dance / Comedian Fundraiser up here for hopefully a Saturday night in May. If you are interested in helping plan or know of a venue that can hold at least 200 people… get in touch. :)…
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.…
I just sent this little letter into the Hull Times and I can’t wait to see it published:
Grandma Daniel or “Granny D” as I liked to call her, was a special lady who was admired by all who knew her. She set an example with her kindness, charisma, hospitality, and work ethic that all others could only hope to achieve. She opened up her home to us any time that we could come to visit, and always made sure that you never went without pocket money during your stay. I will miss visiting with Granny in her “museum” in her front parlor. My son Ryan and I often talk about how nice it was to visit with “Great Granny” when we stayed with her almost 2 years ago. She was a wonderful lady, and will be truly missed.
-Christopher Muir and family.
Dear Granny D. I want to thank you for making and raising such a great daughter who is my Mom, Eileen. Eileen has gone on to have 4 of her own children and now has 9 grandchildren. Eileen has bailed all four of us out many times when we have needed her, she has helped me tremendously to take care of Rachel who is a very special and sick child and Eileen also has an annoyingly positive outlook which has helped me to cope with the illness from which Rachel suffers. You can rest easy, Granny, knowing that you have left your mark on this world. Thank you so much.
With love, Kat von Tungeln and family from America. …
I would like an American Girl Doll and clothes.
Sewing needle plus wool to make things.
A new collar and leash for Boise.
For my sister, Julie Bean she would like a Mrs Clause outfit because she is a girl.
New clothes for my brothers London and Boston.
Make-up for Rachel and Mommy.
Aftershave for Daddy John
New shoes for Granddad
New bed for Great Granny which is comfortable and easy to get out of.
New pair of shoes for Auntie Dorothy and Great Granny.
New pair of eyes for Rachel Eileen von Tungeln.
Rachel wants a new guitar.
PS I have been a good girl all year.
(Can’t stop crying reading the part about new eyes)…
I had a scarecrow and his name was Joe. One day Joe came to life! He was a real scarecrow person. Joe met another scarecrow person named Sophie. Joe and Sophie both wanted to walk to the ocean.
They called up a Limosine Service to pick them up at the farm. Farmer Dave gave them some money for their trip. It took them 3 weeks to get to the beach. They ran and ran and jumped into the water. Then a whale ate them.
Rachel made this story up on 10/6/11. Thanks Tami for writing it down. …