Monday, July 28, 2008

New Neuro

I took Anna to see Dr. Klein this morning because she has thrush and I assume this in combination with teething is why she has been rejecting the bottle and anything the least bit acidic over the past few days. Her sleep habits have also been quite screwed up and we are all so exhausted. Then it was off to see Dr. Hernandez, our new neurologist. He was nice and seemed very knowledgeable. I still miss Dr. Miller and he will never be able to be replaced but he is not coming back so I must move on. Dr. H reviewed Anna's records, tested her reflexes, played with her, and talked to us quite a bit. He looked at Anna's MRI and stated he though there was definitely something abnormal with the white matter in her brain. He says he does not like the term "cerebral palsy" and prefers to call it "static encephalopathy." Basically- that is brain damage that is not changing and of unknown cause. He also seems to think there is more going on though. On a happy note, he was able to get the results of the chromosome testing back and it was normal. I was happy but then he told us that test doesn't really tell much and they had to actually do the FISH test for micro deletions to be able to tell anything. He said that test might be back by the time we see genetics. He also ordered some other tests of which I have no idea how to pronounce or what their significance is. The plan now is to have Anna spend a day at Cook's in Ft Worth and have an all day EEG to look for seizures- she seems to be having some where she just stares off into space and becomes unresponsive- not the convulsion kind, they call them absence seizures. Anyway, she will have the EEG and a repeat MRI and we will meet with a nutritionist all during that day at Cook's. Dr. H was quite concerned with Anna's size and her nutrition or lack thereof. I was so glad to finally see somebody sharing my concern. I told him she is chunky now compared to before- he seemed shocked that we had not seen a nutritionist before now. So basically we are no further than we were except one test is ok but then we know that test basically doesn't mean a whole lot. I was telling Kenneth that I just want to say "screw it" sometimes and quit all of this doctor visit after doctor visit crap but then I know we have to keep searching because if we give up we may end up not finding something that is fixable and then Anna will have to suffer the consequences. Unfortunately, I am waiting for a Dr. to tell us Anna is fine and there is nothing wrong and all of this was just nonsense. That will never happen. I know it is cliche but this really feels like a bad nightmare I cannot wake up from. I want to get away from it all but I can't. No matter where I am or where I go or if it is morning or if it is night, this is always with me and causing pain in my heart because my baby is sick and I can't fix her. I'll try to update more tomorrow but I am so tired my eyes are crossing and Anna is actually asleep and Carly says she's tired- I must take advantage of this...

Friday, July 25, 2008

Tom Petty Had It Right- The Waiting Is The Hardest Part

Today I want to throw a fit. Today I want and cuss and stomp my feet and scream because I am pretty sure I am going crazy. I do not know how I will ever make it until September when we finally get the genetic results back. The waiting is absolutely killing me. I am so convinced that Anna has Angelman syndrome and no amount of telling myself she doesn't is going to fix that. The only thing that will fix it is a definite "no" from the genetic testing. But even if the chromosome 15 deletion is not too apparent on HRCT (high resolution chromosome testing) but they suspect she might still have it then they will have to do more testing called FISH analysis (fluorescent in situ hybridization) - This test identifies certain regions on chromosomes using fluorescent DNA probes. FISH analysis can find small pieces of chromosomes that are missing or have extra copies. These small changes can be missed by the karyotype test. Most cases of Angelman are caused by a deletion on the 15th chromosome but some are caused by an extra maternal copy of some certain piece of that chromosome. Only 70% of deletion cases are picked up by HRCT so even a negative HRCT is nothing definite. Then there are the cases that are not ever proved genetically but are made on clinical diagnosis alone. Can you tel I've done a bit of research? On the happy side- Angelman kids are sooo cute. They smile so much and are happy most of the time and seem to have contagious laughter. On the sad side- they rarely learn to speak more than 50 words. They can comprehend much more than 50 words though. On the frightening side- they don't sleep much. I try to tell myself I must be wrong and then I hear Dr. Miller's voice in my head saying, "Mothers know, they are not wrong. When a mother tells me x,y,z is wrong with her child then without fail x,y,z is wrong with her child." The other scary thing is that so far, with Anna, I've been right. When everyone told me she was fine, I knew she wasn't, and I was right. The list goes on. I see things in her that others don't see. I have read page after page and blog after blog from parents of kids with Angelman and they could all be my story. UGH, I want the test results now. I guess God doesn't think the 13 weeks of bed rest taught me enough patience. I guess he knows best. We do see the new neurologist on Monday so maybe that will help a little. Who knows anymore. I just want a day where I just wake up and think about normal things and not about what is wrong with my baby and why can't anyone give me answers. I hope I don't sound whiney. It is just that this is so exhausting and I don't want to talk to everybody about it everyday because i know it gets tiring hearing about it but some days it just overwhelms me and i can't get it out of my head. I think that i may be about ready for another bump up in my medicine again. One thing is for sure, i am ready for bed...

Wednesday, July 16, 2008

At Last

Anna is sitting up on her own for about 10 minutes at a time!!! We are so excited! Last week she couldn't really do it and this week she's a pro. I may be crazy (well, actually we all know I am) but when she started getting better nutrition she all of the sudden "woke up" and started sitting and just doing more things that she should be doing at her age. Her movements are still very jerky and stiff but her legs seem to have loosened up a bit. She is tolerating the polycose now and gets it in her bottles as well as in her baby food. She hasn't increased the number of ounces she takes but each ounce has more calories. She is eating a ton of baby food now though. She takes 4-5 jars a day and I add polycose to those also. She actually has a little fat on her thighs. Don't get me wrong- she is still little, but she is looking so much better, so much healthier. We finally went to Kenneth's ortho appointment today to see about his finger. If you have not ever had to deal with Workman's Comp. before then please get off of your computer at once, bow down on your knees, and thank the good Lord above. It was such a complete and total pain in the butt to find a doctor who would take workman's comp. and then to actually get the appointment approved. Kenneth saw Dr. Blair. We really liked him. He basically said there was nothing that could be done to fix the bone- it will heal on its own. Until it heals it will be sore as hell. So, Kenneth is off of work for at least the next 4 weeks. He is a little down- he actually was hoping to get to go back sooner. I am bummed too- I love him dearly but I miss my "me" time that I am so used to having when he is on duty. We want him to heal right though so we will do what we are told. Carly is doing well. We are STILL battling the poison ivy with her though. It got a little better and then returned with a vengeance. I really do not want to give her more steroids if I can avoid it. So far Caladryl has done more for us than anything. She doesn't like to be pink but luckily her Aunt Lezli got her a book for her birthday titled "Pinkalicious" and that has made it bearable. I think I am actually going to try and get in bed early tonight. I have to work the next couple of days and if I don't get my rest I get super cranky!!

Sunday, July 13, 2008

Party Time

The first words out of Carly's mouth at 7AM were, "I'm the birthday girl." We were up and going quite early but her party started at 10:30 so we had a lot to get done. I was a bit nervous because only 2 of 26 kids from her school had RSVPd and so I had no idea what to expect. I had prepared for about 1/2 of them to show up. I wish more people would just take the 30 seconds it would take and RSVP. I truly didn't care if they were coming or not- I just needed to plan. Anyway, everything went off without a hitch. Only a few kids from her school showed up which turned out to be a great thing. The kids that showed up played nicely together and since there were not a lot we were able to eat inside and cool off. I was also pleased not too many showed up because anyone who has seen my house knows that Carly does not need 1 more toy and to have had 26 presents would have really been overwhelming. I probably would have donated some to a children's hospital or something. Once she had her bounce house and "club house" she didn't care who was there- her birthday was made. Carly was her usual self- happy and smiling one minute and fussing and being a brat the next. She insisted that nobody say or sing "Happy Birthday" to her so we just lit the candles and let her blow them out. I do not know what is up with that- she is kind of wired differently I guess. All of the kids had a great time and it was low stress for the adults- just like I like it. On the Anna front- I was able to get an appointment in the genetics clinic (in Denton) in early September. The chromosome testing should be back by then. The lady who scheduled the appointment was very nice and I explained to her how I didn't really care which Dr. she put us with as long as they were nice. She assured us that Dr. Drummond-Borg was the Dr. for us and apologized for the rude behavior of Dr. DB. She said i should make a complaint against Dr. DB because Cook's has an obligation to patients and families to be kind and they expect that of all staff. I will probably write a letter- a nice one explaining that although we will never see that Dr. again that I believe some other family will and they will need him to be nice. I am not usually one to make a formal complaint but I just can't let this one go. As you can see by my posting time- I need to go to bed. I was asleep and woke up and couldn't go back to sleep. Between Kenneth's snoring and Carly's sleep talking it is nearly impossible to get any sleep in this place. I guess the couch will have to do for tonight.

Wednesday, July 9, 2008

$111 for that?

Sorry it has been awhile since my last post. We have been busy as usual and then you throw in the July 4th stuff and there is no time left. Then Kenneth was on duty on Monday and there was an 18 wheeler overturned on the interstate and the driver was trapped. Kenneth and the other firefighters were attempting to free him when somehow Kenneth's left ring finger was crushed. He called me from the ER. He didn't want to "alarm" me but wanted me to know where he was. He said I didn't need to come up there- whatever!! So off I went to the ER to find him with holes poked in his fingernail to allow for drainage, a crushed bone, and 4 stitches. We are waiting to get him in with in ortho doctor to see what/if they can do to fix it. The problem is that it is a workman's comp. injury claim and not many doctors will take that. I think we have finally found someone but have to wait until next week for the visit to be approved by the adjuster. Kenneth has been a trooper. I do not know that I would handle it as well as he has. He's got lots of good drugs though so that helps!! We had Anna's endocrinology appointment today. We saw Dr. Douche Bag (DB for short). This of course is not his real name but it is how he will forever be remembered in my vocabulary and mind. The appointment pretty much went like this-

Dr. DB- "Why are you here? Why didn't you just go to the Denton clinic?"

Me- "I didn't know there was a Denton clinic and my Dr's office made this appointment so I just went where they told me to."

Dr. DB- "Your child's failure to thrive has nothing to do with her endocrine system. Endocrine kids are short and fat, yours is long and skinny. She has some subtle physical abnormalities. You need to see GI and genetics."

Me- "We have been to GI. They say she has reflux. That is why she is taking Prevacid."

Dr. DB- "Do you believe she has reflux?"

Me- "Yes."

Dr. DB- "How much does she eat?"

Me- "About 500 calories a day."

Dr. DB- "That isn't enough."

Me- "No shit!!" (just kidding but this was what I wanted to say at this point)
Me- "I know that."

Dr. DB- "CP kids need extra calories. She isn't even getting enough for a normal kid. She may need a feeding tube some day. She also has some subtle physical abnormalities."

Me-- "OK, so I guess we'll just make a genetics appointment."

Dr. DB- "I'll order the high resolution chromosome testing but DON'T expect me to interpret it. It will take 8 weeks to get the results back."

Me- "OK, thanks."

Dr. DB- "Yeah, she's got definite musculoskeletal problems and then there are those subtle physical abnormalities."

Me- "Could you tell me exactly what abnormalities you are referring to?"

Dr. DB- "Slanted eyes, rotated ears, and a thin/narrow head. Follow up in Denton in 3 months. By the way, have you ever heard of Russell-Silver Syndrome?"

All of this, and all for a mere $111 dollars. If I had just wanted someone to talk to me like I'm a dumbass I likely could have found that for free. He was the most uncaring, unkind, and too busy for us man I have ever met in my life. We have been lucky so far that up until today all of our doctors have been nice but this one was a real piece of work. Why would I follow up in 3 months if endocrine isn't her problem. WTH? On a happy note, I got her neuro appointment moved up from Sept. 24 to July 28 (and it will be in Denton- wouldn't want to piss any more doctors off by spending MY money on gas to go see them.) Wouldn't you think someone would feel honored that you drove further to see them? Oh well, once a douche bag, always a douche bag.

Tuesday, July 1, 2008

Technical Terms

Happy Birthday, Carly!! She had a good one. We went and had donuts for breakfast, she loves donuts- but only chocolate glazed with sprinkles. Then she went to school and I guess had her party this afternoon. I picked her up and we went to the fire station and she opened her presents. She got a few things but the main thing was this dance mat thing (technical name, I know) that lights up different squares and you have to dance with it and keep up. It will wear you out quick. We jammed to Hannah Montana and played dance fever. She crashed pretty soon after we got home and she took a bath. She said she had a good day and that is all that mattered to me today. She deserved a good day! The last year has been hard on her and she has been a trooper. Don't get me wrong, she has her moments but overall she as been awesome. She has had to handle things that are hard for adults, let alone kids. Anna had a cranky day. She did sit up with very little help today while holding on to her monkey piano. So she was fussy today and did not sleep much last night. I finally just got in the recliner with her at about 3am after getting up and down with her countless times before that. Anyway, we get home tonight and she is still being a fussy britches and I was about to put her pacifier in her moth and noticed a tooth. No wonder she's cranky. It is on the bottom. It is just barely visible but it is there. Go Anna! I am still in a funk today. I talked to Emy (friend who has a son with spina bifida and autism) and she says the grief will come and go and that I am just grieving and to not beat myself up over it. We are going to try to go out sometime soon. She has been there as her son is 11. Although it is still going on for her too, she has already traveled the beginning of the road where I am. Well, the kids are both out and my eyes are heavy so I am gong to bed. Goodnight. (I know Carly's bangs are too long- we are growing them out and they are in that awkward stage, poor girl.)

1460 Days

Nutrition continues to be an issue for Anna (and for me but unfortunately I am at the opposite end of the spectrum). Anna needs somewhere in the neighborhood of 700-750 calories a day. On a good day we get her to take about 500 calories a day. I do not know what the problem is- is she just not hungry, is she too tired from coordinating muscles to eat, does she not like her formula, is it the bottle, is it the nipple? I am so frustrated. People say the dumbest things like- "Maybe you should try to feed her more often" or "What are you feeding her?" I just want to say "Nothing you idiot. Why would I feed my child? Thin is in!! We are prepping her for her upcoming swimsuit competition. We do feed her...tapeworms." Good heavens people, do I really look that stupid? (Don't answer that) "Have you tried any table food- like mashed potatoes?" "No, we started with steak and when that didn't work we went straight back to the milk." YES, I have tried baby food, table food, formula of every different kind- none of it is working. If she can get it down and likes it, she will inevitably throw it back up which puts me right back where I started. The only sensible advice it seems I get is from my friend whose son also has feeding issues. She suggested Polycose and the EI agreed. So, I ordered the Polycose on Friday. It is a formula fortifier that adds calories. 8 calories per tsp to be exact. So we are starting by making her formula 24 calories/oz versus the regular 20 calories/oz. So here I sit with Anna over my shoulder. She keeps waking up with gas. I am sure it is the polycose because it is the only thing we have changed and she hasn't woken up with gas in months. I will keep trying and hope her tummy gets used to it and stock up on Mylicon in the mean time. I commit to using it for a week and if things aren't better we will stop. What will we do if this doesn't work- who knows. "My child was skinny, too. She'll catch up." "Well yippee for your kid. Guess what, my kid needs extra calories just to maintain because her muscles are in high gear all of the time. And guess what, my kid started out behind and has yet to catch up. And guess what else, my kid's brain growth is behind and a little nutrition might help that , too. " I am not knocking those with normal kids. I have one of those also. She is a picky eater and that is ok. She eats chicken nuggets for lunch and dinner 7 days a week. I can deal with that. It is just that Anna is not a normal kid and she cannot be compared to one. My neighbor's niece was over here and out of the blue asked me "Jamie, why is Anna so skinny and tiny and why do her arms shake?" God bless this child, I can handle these questions from a child. The best part was that she just told it like it is and didn't sugarcoat it. I love children. If a 6 year old can see a problem then why in the hell can't a bunch of grown ups get it? Perhaps we should just sit tight and hold on while Anna falls further down the growth chart and then ends up needing a feeding tube. That would probably be the best idea, eh? Proactive- what's that? Reactive- yeah, that's what we should all be- whatever. Growth charts, who needs them? I'm sure they were just developed to help doctors learn how to graph numbers- they must not have any clinical significance. Weights and measures- all bullcrap, let's toss them too. Ok, I digress, I'm sure you get my point. So it is now after midnight and Carly is officially 4 years old. I cannot believe it. I am happy and sad. I am happy that she is happy and healthy and the most wonderful child I have ever laid eyes on (tied of course with her sister). She is beautiful inside and out. Sad because she is 4 and growing up so fast. Sad because I thought my pregnancy with her was so miserable and I had no idea how good I really had it. Sad that it is always later that I realize how sweet things were at the time, afraid I''ll always be that way with her. Afraid I am not a good enough mother for her. Afraid I am too hard on her. Afraid I do not spend enough time with her. Afraid she doesn't know how much I really love her. Afraid she never will. Can you tell I am a bit emotional tonight? She cracked me up earlier when she was watching tv and told me she could see the tv a lot better "if someone's big butt wasn't in the way." Yes, it was my butt she was referring to. I do not relish the idea of my four year old referring to my behind as a "big butt" however I could not stop laughing long enough to scold her. Kenneth is on duty tomorrow so we will celebrate her birthday at the station. Her party is going to be on the 12th. This is a holiday weekend and not a good time for a kid's birthday party so it will be next weekend. I took cupcakes to her school for today though and she is very excited about her Tinkerbell cupcakes. It seems I just heard the pantry calling my name, I must go. Goodnight.