Friday, December 9, 2011

Once again it's been a long time since I wrote. Audrey's just had another bad day with more setbacks as I see them. In one day her feeding therapist said her swallows are becomming more delayed, her speech therapist thinks she has apraxia, her physical therapist thinks her right arm is less coordinated and she was so tired she couldn't even see her occupational therapist.
We are doing another EEG to rule out seizures and pending the visit with neurology to figure out what is going on with her now. On top of everything else the constipation is becoming a huge issue and she's required more and more medications just be able to go to the bathroom. We are all just worried about where this is all heading. In the meantime we're trying to be happy and look forward to Christmas time and remember to be thankful for that good days that we have when she's able to enjoy everything as our happy little two-year-old.

Friday, November 11, 2011

A long month

It's been a whole month since my last blog and of course so much has happened! First of all Audrey was seen by a different geneticist who came up with the same diagnosis. This was relieving, at least we know what's wrong with her, and sad. a part of me secretly hoped he would say, "She does not have this horrible, unpredictable disease, with no cure, take this pill and she will be all better!" Obviously there was only a slim chance this would happen but it was still a hope. So we've moved on. This is her diagnosis and we will continue on in our path of acceptance.

The week after we saw the new doctor was a rough one. She went back to sleeping >22 hours and crying hysterically every evening, partly out of exhaustion and also from low glucose. This was just how she was in July before she was in the hospital. After 2 months of doing better we were scared she was all the sudden doing worse again! Then her lab results came back and her levels were still low so we increased her medications. Within 3 days we had our happy girl back! What an amazing difference, there is no question how much these meds help her.

She continues on doing well with the exception of her latest problem...constipation! I know it sounds crazy but in our house we are all quite focused on whether or not Audrey has "gone." She is on 3 different meds to help her go and occasionally needs a suppository on top of that. We haven't had to do the enema yet but I know it is in her future. Her poor belly gets so hard and round she has to lean back to breathe and she won't eat anything. So that's her biggest problem currently.

Other than that life continues on. Jacob is doing well in school and has his school play next week. He is playing Linus in Charlie Brown's Christmas play so we are looking forward to that. Him and his dad have been trying to do as many boyscout activities as possible though it is challenging because our free time is filled with appointments and therapies for Audrey. My work continues to be busy and crazy as we are attempting to change around roles, procedures and duties to improve efficiency. Change is a good thing! Audrey was finally accepted into the daycare at the hospital which has been mostly good. It's nice to have her there at work with me. It has been a challenge for her because she is only allowed a two hour nap at school so we'll see how she continues to adjust to that.

So that's our update! Today is Audrey's great grandfather's birthday and he is 91. We are all so glad he is still around to see his great grandchildren grow. It is also Veterans day. So Happy Birthday Opa and Happy Veterans day!

Saturday, October 15, 2011

Happy Birthday to me!

After having such a good week last week, I had high expectations going into this week. It was my birthday and my husband I had a date planned. Audrey had been doing well so I knew it would be good. During Audrey's feeding therapy last week she choked and aspirated on some juice. The rest of the weekend she was pretty tired and seemed to need her oxygen a little more often. She seemed fine otherwise so I wasn't worried. Sunday was great! We started with a early morning high in T.O. It was beautiful outside and nice to get a little excersise. Then I took some time for myself and got my nails done and a haircut. We had a babysitter for the kids and me and the hubby went out to the Melting Pot! Yay, after over a year we finally made it back! It was a great night and we even avoided talking about the kids while we were out aside from agreeing there was no way we would bring them there!

Tuesday was my birthday. 29 years old now. I'm not really concerned about my age but it does seem odd to think I'm almost in my 30's! Other than that we didn't do much. I worked all day so I didn't get home till 645. We did have pink cupcakes which Audrey really enjoyed :)

I was looking forward to Wednesday. Finally, after 14 months on the waiting list, Audrey is going to start at the daycare at the hospital. Wednesday was my orientation day with her teacher. I was nervous that they would not be able to accommodate her special needs. So after letting her go through the spiel of what they do and how they do it I introduced that she has some feeding problems and is on special thickened fluids. She is also prone to choking during her meals so she needs to be closely supervised while she eats. We strategized ways to be sure she was safe during mealtime. Next I brought up she uses oxygen while she sleeps. This was again discussed and decided it would probably be ok. I left it at that. There's so much more but I felt I had pushed them far enough for one day. I met with the director to discuss these things and she was fine with the oxygen if I could show the teachers how to use it. No problem! Feeling mixed emotions I returned to the office to continue my busy day. I checked my voicemail and Audrey's current daycare had called. It couldn't be anything bad since they didn't call my cellphone or page me. I returned the call and they said she had this episode where she kept falling down. They went over to help her stand and she immediately fell over. When they picked her up her face was really pale and her lips were purple. They put her oxygen on her and she fell asleep. She had been asleep since then...2 hours before. I hung up and burst into tears. Not particularly helpful but unavoidable. Things had been going so well I knew I was beginning to think this was all just a bad dream. By the time I picked her up she seemed ok. I woke her up from her nap and she continued to be very sleepy but nothing obviously wrong.

Thursday her daycare was nervous with her. I was relieved because I knew they would call right away for anything after the day before. We talked about paging me since I'm not always in my office. The day went fine. When I picked her up they said she was a little congested. By the time we got home she had a fever of 100. Ugh, it gets better and better! Loaded her up with her meds and off to bed she went.

Friday her temp was 99. So I was ok with that. She had some congestion and a runny nose but seemed ok otherwise. Now it was time for feeding therapy again! Back to CHLA we went. It was a very long hour with a stubborn 2-year-old who did not want to hear that she could only take 2 sips before we took her cup away and she could only take one bite at a time before we moved her plate away. The session ended with her sitting backwards in her chair refusing to make eye contact or speak to anyone. This was helpful and I'm glad I get to spend $25 every week for this. Next we went to the new daycare to drop off all her enrollment papers. She got to see the building and her new classroom. We took her out to the playground where her class was and she got to play. Then it was time to go. That was least I know she'll like playing there! I was also relieved because I think she'll be able to play without needing her oxygen which is good since I hadn't discussed this yet with the teachers. Next we went back home. Audrey got to nap and mommy got to figure out where her formula authorization was and wait for her oxygen delivery. After 2 hours on the phone it was obvious she wasn't getting her formula this week. This is all so complicated! I got a call from her regional center coordinator to schedule her therapies to start in the next week or so to overload our Friday's even more! How much longer will I be able to keep doing this? Everyday I spend time on the phone, scheduling appointments or calling insurance companies, ordering supplies, going to appointments and therapies all the while I work full time and have another child and a husband who need my time also. Nearly everyday I think about quiting my job and going back to the NICU. At least there I could work Fri-Sun and not have to worry about daycare and only making appointments on Fridays. I haven't given up yet. I still like my job and Audrey likes daycare where she gets to see other children. I know it may come to that but for now we'll keep pluggin' along and hope for the best!

Friday, October 7, 2011

Be here now

This week definitely did not go as well as I had hoped. It all started Monday when before bed Audrey was complaining on leg pain. I gave her Motrin but since it was before bed I didn't want to give her the whole "pain cocktail" with the caffeine and all. By 130am she was awake crying in pain. Two hours later she was finally back to sleep but 5 am seemed to come very early.

On Tuesday Audrey had her altitude test scheduled. I did not really know what this test would be like or how it was done. Basically I held her on my lap while they put a pulse ox and special nasal cannula on which measured her CO2 levels. She wasn't thrilled with this as she was still tired from her interrupted sleep the night before, however, some crayons and a Hello Kitty color book did the trick in distracting her. They measured her baseline for 20 minutes. Then they put on a face mask and gave a mixture of oxygen and nitrogen mixed to simulate being at 5000ft altitude. This was where the trouble really started. 2 years don't like face masks. Tired, crabby 2-year-olds really don't like anything so she screamed for the next 15 minutes. Stiff, and red, and screaming her head off. Finally after 15 minutes she fell asleep. Then they changed the oxygen mixture again until it simulated 8000ft. Being in the medical field I watched as her oxygen saturation slowly fell, her Co2 levels slowly went up and her respiratory rate stayed the same. After 20 minutes they said we were done and we woke up my screaming, tired two-year-old. In my head I knew what I saw but I had to wait for the doctor to tell us what the results were. The rest of the day Audrey had a headache. She fell asleep by 3pm and didn't wake up until 6am the next day when I got her up for school. This much sleeping was something she hadn't done since she started her mito cocktail but she had a rough couple days so maybe she was just tired.

Wednesday, Audrey did ok. She woke up with muscle pain again and was tired but otherwise ok. I spent the day at work on this "retreat." I was supposed to learn about "being here now" and learning to appreciate people in my life. It was a very long day in which none of my work in the office was completed. On the drive home I was able to reflect on this message and apply it to what was going on. "Being here now" is something I need to focus on for Audrey's sake. I can't worry about what may or may not happen. I need to live in the moment and enjoy what I can. Maybe it was not such a wasted day...

Thursday I met with Audrey's pulmonologist. Since I work with her every Thursday, I luckily did not have to wait until her next appointment in December to get results! As I had known on Tuesday, the results were really abnormal. There seems to be a disconnect between Audrey's brain which says your oxygen is low breathe faster and deeper and her respiratory muscles which also seem weak. Not only did her oxygen go low during the study but her Co2 went up and her respiratory rate never went over 20 (which is a normal rate at rest but not under stress). This means that anytime Audrey is in over 5000ft elevation she needs to be on oxygen around the clock. It also confirms that when she plays a lot she has to wear oxygen because for some reason her body doesn't know "when I run I must breathe faster." I took the news well. I continued my long day and wrapped things up at work. When I got home and I told my husband the results, I broke down. I work in the medical field, I know what this means. If she were to get worse she would lose her drive to breathe at all, even during rest. After realizing my fears out loud I was able to "be here now" and rationalize that for now it's ok. She doesn't mind wearing the oxygen and it doesn't seem to limit how she plays or enjoys life. We don't know what she will face in the future but we have to deal with that when it happens, this reality is certainly not what we would have predicted a year ago.

And now it's Friday. It's 3 am and I'm already awake which is already a bad sign. Audrey begins her feeding therapy today, so even though it's my day off, we have to go back to the hospital to start that. After that we have to run home to catch her oxygen delivery and let her nap and then it's off to the cub scout meeting with Jacob. It's another long busy day but I will keep thinking of the "be here now" motto and hope things get better.

Sunday, October 2, 2011

She looks great!

I'm so happy we finally made it through one week without any health setbacks! We're still dealing with the food allergy mess but other than that all is well. When she looks like this I can almost believe this is all just a horrible mistake and my little girl is as perfect on the inside as she is on the outside. This belief doesn't last long as soon enough I have to give her 6 syringes of medicine or put her oxygen on her or massage her muscles which ache but it does give me hope that she could "get better" and won't always have to struggle with this invisible, awful disease.

Yesterday we all went to walk with Jacob's school in the local parade. It was a really nice day and Audrey loved all the balloons, horses, and marching bands. After she took a nap we met up with some cousins and she had a blast playing with them. After all that excitement she was exhausted but we managed to keep her awake until 8 so she could eat something before bed. We found out she LOVES Happy Feet! She is a musical girl for sure and had a lot of fun dancing and singing to all the music. I can't wait until she turns 3 and we can put her in dance classes! It was a great weekend though seeing her laugh and giggle and feeling good.

This week she has an altitude test scheduled on Tuesday. They plan on putting her in this pressurized room and decreasing the oxygen to see how she responds. The normal response would be to increase your respiratory rate to compensate. They think Audrey will not be able to increase her rate enough to compensate. The test is supposed to be safe and is done all the time but of course I am nervous about it. On Friday she starts her feeding therapy. So that's our busy week this week, I'm hoping this "healthy" tend keeps going!

Thursday, September 29, 2011

End of the week

Well this week was the best week Audrey's had health wise since June. I have to believe things are starting to stabilize now. Her only new thing is a milk allergy. This is pretty unfortunate as between her food allergies, dysphagia and being 2 year old, I have no idea what to feed her! Somehow it's the worst feeling as a mom to not be able to feed your baby. Her doctor wants to start a special formula which makes me sad. She's never had formula before. I thought we did so well with her as a newborn exclusively breastfeeding and now here she is 2 years old and they want to give her formula. I know it's not the end of the world it just makes me feel like we're going backwards.

Otherwise this week Jacob was sick with the flu. Poor little guy was quarantined to his bedroom for 2 days as we couldn't risk Audrey getting sick. He was a trooper though and really understood why he had to stay in his room. He's a great big brother! Lucky for him he's better in time for the annual Bike Rodeo with his boy scout troop this weekend. Looking forward to this weekend and hoping it will be uneventful...too bad it's going to be so warm, we are definitely ready for the cool fall weather!

Monday, September 26, 2011

A good day

Yesterday was a good day. The temperature is cooling down which is good news for Audrey. We we able to go outside for a short walk for the first time in over a month. She walked up the street and back with her oxygen in a little backpack. She was pretty exhausted the rest of the day but I think it was good for her.

We installed a new rail on the staircase which is her level. Now her physical therapist can work with her on the stairs with something for her to hold on to. We tried to get her to use it last night but she would rather crawl still...I guess we'll leave it up to the therapists.

Today being day is going as usual. Work is usually pretty busy, especially since I missed Thursday and Friday for Audrey's MD appointments, so it keeps my mind off everything else. Sometime I have a lot of guilt about working so much and putting her in daycare, but I know she likes to play with the other kids and I know I would be a complete mess if I didn't have this little escape. Maybe it's wrong for me to want the escape but I know I won't be any good for her if I can't keep myself together. I'm looking forward to this week. We don't have any doctor's appointments or tests or therapy! Hoping for a "normal" week...

Sunday, September 25, 2011

The first day

Here I go with my first blog. I'm hoping this will help me to discover my strength so I am able to be there for my daughter through whatever she may have to face. Since her diagnosis in August 2011 with a mitochondrial disorder I feel so lost and everything is out of control. For nearly 2 years we thought we had been blessed with a beautiful HEALTHY little girl. Now we are living in a different reality and everyday we are having to relearn how to care for our baby. When she is laughing and giggling it's easy to forget that she's sick at all. And then she turns blue while playing and has to use her oxygen or she starts crawling while playing because her legs are too tired and we are reminded that her problems exist inside her little body which is not as healthy as we first believed.

Since this is the first blog I'll write alittle bit about her symptoms and hope that this is the only way she'll ever be affected...
Audrey suffers from extreme fatigue on a good day she'll sleep 16 hours, on a bad day she'll sleep 22. To complicate this she has hypoglycemia when she fast for more then 10 hours. We give her cornstarch twice a day to help stabilize her glucose. Usually be early evening the cornstarch has worn off and she becomes and crying, screaming mess until she eats. She has times when her arms seem to stop working, usually her right one. It just hangs there and she doesn't seem to recognize that it belongs to her. She wears oxygen while she sleeps for her hypoxia and now she wears oxygen when she plays alot. They think she doesn't increase how fast she breathes when her heart rate goes up and she has weak respiratory muscles. On her good days, she'll want to play but will quickly turn blue and need to be on oxygen. She has constipation and some mild developmental delays. She also has temperature instability and heat intolerance. She can't go outside if it's 80 or she overheats. Audrey also has dysphagia. We have to thicken all of her liquids to a honey thickness.

Aside from this people look at Audrey and say "she looks great!" Only her parents seem to notice the dark circles under her eyes and her frantic energy as she tries to stay awake. Only her parents know about the medications and oxygen and thickeners that have changed their daughter's life...