more Karah updates...seriously?! More?!

Quick note-Dr Longo (geneticist) called me today with results of last weeks testing. They did a plasma carnitine test and a creatine test. He said if they came back negative we would never need to come in again (unless we wanted to in several years to see if she carries the gene for Benign Rolandic Epilepsy.) He called and told me it was positive. He was almost sure it would be negative because she looked fine to him but he said "what do I know?! I've only seen her once!" She has a creatine deficiency. Possibly GAMT. He wants to get her started on therapy ASAP so he is having her come in tomorrow for some more testing. They will need to test Alyssa too. He will be doing blood testing, urine study, DNA testing and we have to get another MRI done. He needs to do a magnetic resonance spectroscopy. He says this is a treatable disease but if not treated it would get worse as she gets older. He said if she wasn't treated she would have degeneration in her brain, the disease is progressive, the longer you wait the harder it is to control, she would eventually lose her coordination and skills. She will have a restricted diet including supplements of creatine, ornatine and another one I couldn't understand with his cute Italian accent. He said this treatment may help with the seizures and in a year or so on therapy we may be able to get another brain test done and see if she could go off her epilepsy meds (the damage may already be done though...) I was so close to not even making this "last" metabolic disorders dr appt but I guess I am glad we went! It's best to treat it early...as early as possible I guess! I will keep everyone posted! I will probably understand better tomorrow...I hope!

Update on Karah as of June 17th

Monday night I decided to sit with my laptop downstairs on my bed in the dark. This never happens. I am usually upstairs and I always have the lights on! While I was checking my emails and digital scrapbooking (about 10:30pm on 6-14-10) I heard a sound coming from Karah. I couldn't tell what she was doing-laughing in her sleep or choking so I rushed to her side. She was having a seizure, convulsing, eyes in the back of her head, drooling. I freaked out a little and ran her up to my mom's room (thank goodness I wasn't intruding on anything!) She still hadn't come to. I laid her on the bed and she looked at us with her scared and panicked eyes. She was stuck inside this tiny body and didn't know what was happening. A few minutes later she started to try to tell us things however we couldn't understand any of it! Very bad slurring. Her face was paralyzed on the left side which left me worrying about a possible stroke (her face did the same thing last time.) I tried to remember the stroke test questions. Stick your tongue out-it went to the right. Smile-she wouldn't smile. Talk-she couldn't say simple sentences. A few minutes later she was back to herself and tired so I put her back to bed. I called and left a message with the doctor that next morning telling him that she had had another seizure and I think she had been having them without us knowing. (That day she got her cast on-it's red by the way. She got a buckle fracture above her left wrist last week.) The next day the doctor called and discussed what he thinks is happening with Karah. The seizures are originating in her brain (not from the cyst or her heart.) Based on the EEG, her right central temperal region had irregular brain activity which would coincide with the seizures she is having. He has diagnosed her with Benign Rolandic Epilepsy and Todd's Paralysis which would explain the temporary paralysis after each seizure. With Benign Rolandic Epilepsy, the patients have about 80% of their seizures at night. She currently isn't having any developmental delays so I believe that's why it is considered benign. I hear it is very responsive to daily medication and she will be taking some two times each day. I just have to keep track of the seizures (that I notice) and let the neurologist know. His goal is for us to have our same wonderful, happy little girl back! I like that! She still has to see a few other doctors like cardiology for her heart (cardiac arrhythmia) and the neurosurgeon for the arrachnoid cyst on her brain just in case she has other problems too. This morning Karah had two more seizures. Upon hearing them in my sleep, I recognized the sound as one I've heard numerous times and didn't know where it was coming from...it was Karah having a seizure. Before I knew she was having problems, I would be awakened by this sound (of her choking/gasping during a seizure) but when I would wake up enough to try to find out where the sound was coming from, it was gone so I would go back to sleep. Now I know she has definitely been having them for awhile now, just not in front of me. I am grateful I was inspired to be in the right place at the right time so I could witness what is going on with her so she would be able to be helped. It is really weird but I have had this feeling for a long time now that something wasn't right with her health. I kept pushing it aside because she had no symptoms and was a completely normal kid! I guess it was my motherly instinct telling me something was not right. It's hard to pursue it with the doctors though-you go in, they say what's wrong? You say, I don't know, I just have this feeling. They say you are overreacting or something like that and say your kid is fine. Now at least we know what it is, where to go from here and how to help her. For that I am grateful. We will be fine. We will move on and work past this. Karah will continue to be a happy, healthy and wonderful child-I know she will! I sure love her! Thanks for all the love and support! It is greatly appreciated!

Update on Karah as of May 24th

Sunday, April 25th Karah had some funky "episode" so the doctor told us to take her to PCMC. Now we are trying to figure out what happened. She was standing next to me and we were talking when she stopped talking and she leaned forward onto the stairs, couldn't move and started drooling a lot and her mouth was quivering. I said are you okay and she looked at me like she didn't know who I was or what was going on. She couldn't talk. Then she came to and ran up to spit in the sink. She was slurring her words and as she tried to talk, huge spit bubbles would form and drool would go down her face-it was freaking me out. She said her lips felt tingly and her tongue felt huge-but it was just normal size. She said she had to hold onto the stairs so she wouldn't fall over and she couldn't talk when it happened. Anyways, that's the story. I watched her for a little bit but felt like I couldn't just brush it off so I called the doctor to see what he thought and he said to take her to the ER at PCMC...so I did! Here are some pictures at the ER that day. They did a quick EKG and we got a bunch of appointments scheduled with various doctors. They were concerned it was either a seizure or a problem with an arrhythmia where her irregular heartbeat pulled the blood from her brain causing the episode.

This guy was cool-he had shoes where each toe was separate and he'd wiggle his toes for Boo and make her giggle.

We had an appointment with Dr Joel Thompson (who is super by the way!) He's in the neurology department at PCMC. He was making her laugh so hard! He did a full exam on her and was assessing her situation. When I asked if she would need an EEG and he said no, not unless she's had problems like a seizure or something, I knew he didn't know about the ER visit. Once informed, he jumped into action, changing his whole route of what to do. He got a Holter monitor ordered, blood and urine tests ordered, an EEG and an MRI scheduled. Apparently, she does need to be checked! lol I am so glad I asked and informed him since he didn't get the memo!

Our first test was the EEG. This picture of Kaitlyn was the last experience I had with an EEG. It was one of the more traumatic memories actually seeing her not respond to any stimulation. I remembered they put wires and tape all over her head and though it would be the same with Karah. Apparently, Karah's head is much bigger than Kaitlyn's was so it didn't cover her entire head....funny that I thought it would!

She was not thrilled to be having this procedure done! We kept telling her it wouldn't hurt. I let her touch the wires and the paste and everything but she was sure that once she was all hooked up they would do something like shock her.

You can see the very worried and unhappy faces she made.

See how much bigger her head is?! They are way spaced out! lol

Poor Karah cried for about a half an hour. We both fell asleep.

Her hair was all yucky after the procedure but she got to choose a pillowcase so she was happy! I think I will have my girls pick some material and help them make a few pillowcases to donate. That will be fun!

I took pictures at her MRI however, apparently if you don't have your memory card in the camera then you didn't really take them...bummer! It was really neat there. We were going to have to wait for awhile so this volunteer came and did crafts with Karah and Alyssa while we waited. Then Karah got to pick a stuffed doll with a cute hospital gown on it. They showed her on the doll what they were going to do to her and then she got to color it with markers and decorate it. The nurse accidentally told me about the EEG being abnormal, then I told her I hadn't heard any of the results yet so she shut her mouth and said we should hear from the doctor Monday. Of course that allowed me to worry all weekend! She got put out and went into the MRI machine. On a good note, while I waited, I got to see my cousin's baby Maddison and actually hold her! She is so adorable and was getting released that day! Congrats! Karah was really funny coming out of surgery. I wish I could have somehow recorded her! I felt bad that I was laughing so hard but the nurse did confirm that she was doing some pretty funny things! She was dizzy, loopy and had slurred speech for the rest of the day. And now for the test results...

MRI

No evidence of any abnormality meaning her brain is formed normally and they saw no tumors. The radiologist did notice there is a collection of fluid on the back of her brain inside her skull. The pocket of fluid is called an Arachnoid Cyst and they like to not do anything with them unless it grows bigger or starts causing problems. They do not believe that it is related to the seizures and sitting where it sits they aren’t really concerned. If she starts getting dizzy and has really bad headaches then they’ll check and maybe have to drain it. She will probably get brain scans every few years to track the growth of the cyst-hopefully it doesn’t grow! We will be having a consult with a neurosurgeon soon for further care.

EEG

They found irregularity on the right side of her brain by the temporal lobe. This verifies that most likely it was a seizure that occurred last month. Her pattern of electrical brain wave could be seen in a person who had an underlining tendency for seizures and the location means her seizures are more likely to happen at night. So she may be having them when she’s sleeping and we don’t even know. We need to watch carefully and if she has more seizures then they would treat her with daily medication for epilepsy. The odds of her having more seizures goes up dramatically the second time so they don’t usually do anything after the first one except wait and watch.

LAB RESULTS

Organic acids, carnitine levels, free carnitine and acyl carnitine levels are within a normal range. That’s good news. Since she has been in and out of the normal range, they would like her to be seen by the metabolism clinic to see if we should pursue this anymore. Then we can have some closure.

HEART

Still waiting for the appt. The doctor did say they heard some irregularity however not a murmer so we need to go in. The Holter monitor did not catch (in 24 hours) any of her episodes of arrhythmia. She usually doesn’t have them every day so we’ll have to try something else to check.

She is still doing great. It could be worse and it could be better but at least we are finding some answers and they are all treatable! Thanks for all the prayers and support! I am so grateful!

Questions about me by my kids...lol

For Mother's Day yesterday at church, the moms got to attend sharing time (Primary) with their kids. For the last few weeks each kid was taken out of class and asked questions about their mothers. They compiled it into a book for each of us and between singing Mother's Day songs, they read some of the funny things each kid said. Some of the things my kids said about me...

*My mom's favorite food is (Lys) bananas (Boo) pears

*Where would your mom like to go on vacation (Lys) Idaho (Boo) Idaho (what?! I thought, for sure, they would say Germany!)

*How old is your mom-(Lys) 2 (Boo) 100 At first I thought Lys said I weighed 2 pounds and I said Yes! really loud and then I found out she was talking about my age. I am sure some people (who don't know how deep I am) would agree about me being two!

*What is your mom's favorite color (Lys) pink (Boo) Blue-she always picks blue shirts (It is blue. I also really like saturated colors on me. I usually buy brown, black, blue, green and recently purple and turquoise but they have to be on the dark side! I also like to look at really nice color palates...)

*When your mom doesn't have any work to do, what does she do for fun or to relax? (Lys) play (Boo) she plays with me (shocked they didn't say watch tv and play on the computer. I do like to play with them though!)

*How do you show your mom that you love her? (Lys) kiss (Boo) by cuddling with her every day

*How much does your mom weigh (Lys) a thousand (Boo) 40 pounds (no comment!)

*What kind of music does your mother listen to? What is her favorite song? (Lys) cinderella music (Boo) Sometimes "I am a Child of God" She always sings every night (I do sing primary songs to the girls every night. I love to sing really loud in the car where no one can hear me! I usually listen to the children's song book, church songs (they keep me calm and happy) and if I turn on other songs, I like classical and oldies (I include the 80's and 90's in oldies...is that bad?))

*What does your mom like to do? (Lys) bikes (Boo) give me cuddles (I like to be happy and be with my girls-they are sweet!)

*What's the funniest thing you have seen your mother do? (Lys) laugh (Boo) tickles me or I tickle her! (Obviously they haven't seen my facebook page. I share way too many embarrassing things on there. I share the silly stuff because it's interesting but FYI, I do have a smart side....)

*What makes your mom happy? (Lys) smile (Boo) hearts and cards (being with family and friends and relaxing)

*What is your favorite thing to do with your mom? (Lys) play on the swing set (Boo) give her cuddles (they love doing crafts and cuddling and dancing and playing with me. Time is important.)

*What scares your mom? (Lys) spiders (Boo) spiders (I am afraid of spiders, however I always kill them because I don't want them crawling on me at night-or in the daytime! :) I am actually afraid of someone following/chasing me and hiding under my bed and stabbing me-thanks mom! lol)

*When your mom was little, what was she like? (Lys) toys (Boo) she was like Grandma T (I have been told I was A LOT like Karah!)

*What does your mom do all day while you are at school? (Lys) "puter" computer (Boo) she plays tag and hide and seek (I work now.)

*What is the first thing your mother does when she wakes up? (Lys) play (Boo) gets breakfast and does my hair (The first thing I really do is push snooze on my alarm...maybe a few times! lol)

*What does your mom like to watch on TV? (Lys)Hannah Montana (Boo) Hannah Montana (this was with some coaching from my pre-teen cousin! lol) (I really like House, Monk, Psych, shows on TLC and others....I even like Phineas and Ferb. Nice!)

*What is your mom's best talent? What does she do best? (Lys) sleep and play (Boo) she's really good at bowling (I haven't been bowling since I was pregnant with Lys but maybe Karah means bowling on the wii. I didn't realize I was good though. I think I am caring and funny. I like kids!)

*What is your favorite thing your mom does for you? (Lys) play hop and jump (Boo) She likes to take me to Discovery Gateway, but we have to drive around a lot. Now we just park in purple. (I still can't hop and jump so I don't know what Lys is saying! lol Have you noticed when you park at the Gateway, you have to drive around in circles forever to get out of the parking garage?! Karah does not like that part!) (Karah LOVES me to tickle her back and Alyssa likes to be attached at my hip!)

*If you could give your mother anything, what would you give her? (lys) puppy (Boo) a cake--chocolate (I think a day where Lys actually listens to me would be awesome!)

*What could you do that would make your mom really happy? (Lys) play happy (Boo) give her lots of hugs and kisses and lots of cuddles (Love them!)

*I love my mother because (Lys)she is funny (Boo) she is very funny (Maybe they have been reading my Facebook page! Or they just live some of it...hehe!)

*These girls of mine crack me up! I have no idea how they got these answers in their heads. So much fun! Some of the other kids said really funny things too! One kid said when his mom was little she was a baby cow. Nice! lol Another funny answer (especially at church) what your mom's favorite song is "The tractor song" meaning "I think my tractor's sexy!" Sweet! We had a nice Mother's Day-thanks girls, you are the BEST! :D

March 2010 Kaitlyn's birthday and St Patrick's Day

On March 11th we celebrated the 7th anniversary of Kaitlyn's birth. The girls were so excited to do special things for her and to remember her.

The girls decorated cards for Kaitlyn's grave. I decided to laminate them so they could stay there for a little while.

Alyssa's card

Karah's card

a princess castle for our little princess

We decided to have a little picnic but it was soooo stinkin cold out we escaped to the car!

My girls love to run around here and smile and giggle! I love it here too!

My mom was sweet enough to come with us to see our angel's graves

Grandma T and the girls (Karah and Alyssa)

Me and my girls

We are so silly!

I got some artificial flowers to put on Kaitlyn and Evan's graves. Obviously pink for KT and blue for Evan. The view here is awesome!

Happy 7th Birthday Kaitly Dawn Barrett!

When we retreated to the car, I put the seats down and we had our picnic inside the Pilot!

It was a nice day!

Cheese!

Fishy kisses!

Here's Lys trying to copy them

cheeser!

Alyssa's big monster mouth

hugs!

What is she doing?!! Licking the car window?!

Where did they get this idea?! Yuck!

cuddles

A mold of Kaitlyn's hand in Karah's hand

Lys holding hands. It's interesting the size difference between all their hands.

This St Patrick's Day was so much fun for Karah! Thank goodness mom reminded me to grab green shirts for them... She had a party at school and had the best day!

Lys loves chocolate! Thanks Karah for sharing!

When I picked up Karah from school today and she told me "I love school. I extra extra EXTRA love school mom. I don't just love school-it's FANTASTIC!" I think someone is having a good day! I love it! I love seeing her so happy!

Here is Evan's tiny hand in Kaitlyn's tiny hand...