This poor neglected blog. It's pitiful, really. I am ashamed at how much time I have let pass since my last post. I know that I sort of left everyone hanging, which I didn't mean to do, but life continues to be a whirlwind for us without much time to compose a coherent blog post. That's why I have decided to create a Facebook Group for Camille. It will allow me to post short and quick updates about Camille to keep everyone updated. I will still update the blog when I can, though, and will post on the Facebook group when I do. If you want to join the Facebook group, search for "Praying for Camille Lynne" on Facebook and then click "Request to Join".
The biggest news we have had as of late is that all of the genetic tests they ran on Camille after her latest MRI came back normal. No really, I know this has shocked you to your core that Camille has had more normal test results, and that they still cannot find out what her underlying condition is. We met with the Cooks Genetics team again, and they continue to be stumped. Even with the latest information, which include the new MRI, and the fact that Camille has Anterior Polar Cataracts in each eye (long story that I will for sure tell one time), they still could not pinpoint which syndrome she has. After the latest round of tests--the Lysosomal Storage Disease Panel, the long chain fatty acid test, and the Congenital Rett Syndrome test--they are now down to one last thing to test for. It's a syndrome that we discovered in our own research early on, and have asked about from early on, but it is one that is more difficult to diagnose clinically, and more difficult to test for since only one lab in the country does the test. Camille has a lot of the characteristics of this syndrome, and I have thought from the very beginning that she resembled some of the kids who have it and whose pictures we have seen. However, even now that both the Cooks Genetics team and the TCH geneticist we saw in January (we consulted him after these latest findings) believe that we should test for this syndrome, and that it is the last thing that they can think of to test for right now, we have run into yet another roadblock. Supposedly private insurance does not like to pay for this test. So we are praying about possibly shelling out the money ourselves to go ahead and get it done, or waiting to see if we can find a way around that.
The other latest news is that Camille has been vomiting so much recently that she is going to have to have another scope of her stomach to try and find the source. Also, this may be too many gory details, but she has also been vomiting up old blood, which indicates that there may be some damage to her stomach lining. She will have the scope in 2 weeks up at Cooks (another long story, but we have switched back to seeing a GI doc up there). She will have to be put under general anesthesia for the procedure, which is always concerning, but she should not have to stay overnight. Please begin praying that this scope will show the cause of Camille's vomiting, and give us direction in what we should do. It is unbelievably difficult on our entire family for Camille to vomit like this. Not only is it horribly uncomfortable for her, it means that she loses calories that she so desperately needs. It also means things that may seem superficial to you, but when your child is vomiting 3-4 or sometimes more times per day, then these seemingly insignificant things become important. Things like tons of clean-up, uncontrollable amounts of laundry, and a 3-year-old little boy who has learned to make the most awful-sounding puking noises. He also uses his play cell phone to "call" our doctor, and will say something like this: "Doctor, yeah, uh, my baby sister is throwing up again. Yeah, she's puking." And did I mention that Henry wants to be a doctor for Halloween? Yes, and he wants Camille to be his patient. Hmmm, you know your little girl is throwing up too much when...
I'll update on FB and on here when I can, which is hopefully a lot more than recently! Your support is what helps us continue on, even amongst the puking and the testing and the procedures. Thank you.
Friday, September 10, 2010
Monday, August 2, 2010
Difficult Times
I can't tell you the number of times I tried to write this post and the words just weren't there. I still don't know if the right words will come even now, but I feel like I can't put this off any longer.
About 2 weeks ago, we received some difficult news. Camille's 24-hour EEG came back normal (meaning no seizures), but her MRI was abnormal. The neurologist called to tell us that her new MRI showed that things in Camille's brain were changing, or progressing. Her brain showed signs of cerebral atrophy (it is getting smaller instead of bigger) and dysmyelination (the myelin, or coating of the nerves, in her brain is not forming and functioning properly). He said that this indicates several things to him: one, it appears that she does have something progressive, which will get worse over time; two, the atrophy and dysmyelination are usually indicative of a leukodystrophy.
Leukodystrophies are just plain awful disorders. They are neurodegenerative, and associated with extremely short life expectancies. Our sweet Camille continues to be unique--the neurologist said that he did not recognize the pattern of her dysmyelination, which means he could not pinpoint which specific disorder she might have. Therefore, he and genetics consulted, and decided to do a Lysosomal Storage Panel, which is essentially one test that looks at many different disorders at one time. We had the blood drawn for the panel last week, and should hear something by the end of this month.
I feel such a strange combination of emotions right now. In one sense, I am relieved to know something and to be very close to finally knowing what is going on with our little girl. Then I battle the guilt that comes along with that sense of relief. Why should anything about this news be a relief? It's horrible and terrible and heartbreaking. I once said that not knowing was worse than anything, but is it worse than this? Wouldn't it be better to not know this?
I feel such a profound sadness that I can't even begin to describe. It makes my chest hurt, and it makes me feel like there are permanent tears stuck in my eyes, ready to overflow at any moment. It makes me question my whole belief system, however cliche that might be. It makes me wonder how I am going to watch my child battle a progressive disease, how I am going to watch her deteriorate, and still keep my faith and sanity.
We ultimately do not know anything definitive at this point, and I am holding onto that. And what we do know remains true. We know we love Camille. And we know we love a God of goodness and mercy. Whatever we find out, whatever happens from this point on, this will not change.
Thank you for your continued prayers and support.
About 2 weeks ago, we received some difficult news. Camille's 24-hour EEG came back normal (meaning no seizures), but her MRI was abnormal. The neurologist called to tell us that her new MRI showed that things in Camille's brain were changing, or progressing. Her brain showed signs of cerebral atrophy (it is getting smaller instead of bigger) and dysmyelination (the myelin, or coating of the nerves, in her brain is not forming and functioning properly). He said that this indicates several things to him: one, it appears that she does have something progressive, which will get worse over time; two, the atrophy and dysmyelination are usually indicative of a leukodystrophy.
Leukodystrophies are just plain awful disorders. They are neurodegenerative, and associated with extremely short life expectancies. Our sweet Camille continues to be unique--the neurologist said that he did not recognize the pattern of her dysmyelination, which means he could not pinpoint which specific disorder she might have. Therefore, he and genetics consulted, and decided to do a Lysosomal Storage Panel, which is essentially one test that looks at many different disorders at one time. We had the blood drawn for the panel last week, and should hear something by the end of this month.
I feel such a strange combination of emotions right now. In one sense, I am relieved to know something and to be very close to finally knowing what is going on with our little girl. Then I battle the guilt that comes along with that sense of relief. Why should anything about this news be a relief? It's horrible and terrible and heartbreaking. I once said that not knowing was worse than anything, but is it worse than this? Wouldn't it be better to not know this?
I feel such a profound sadness that I can't even begin to describe. It makes my chest hurt, and it makes me feel like there are permanent tears stuck in my eyes, ready to overflow at any moment. It makes me question my whole belief system, however cliche that might be. It makes me wonder how I am going to watch my child battle a progressive disease, how I am going to watch her deteriorate, and still keep my faith and sanity.
We ultimately do not know anything definitive at this point, and I am holding onto that. And what we do know remains true. We know we love Camille. And we know we love a God of goodness and mercy. Whatever we find out, whatever happens from this point on, this will not change.
Thank you for your continued prayers and support.
Wednesday, July 7, 2010
The Highlights
And once again, too much time has gone between posts. Even after my Memorial Day resolution and all. So sorry. We have been busy, however, and I figured I would write a post of mainly updates--the highlights, I guess you could say.
First, we are (yet again) in the hospital here in Waco. Camille started vomiting last week, and it just kept getting worse. She was dehydrated yesterday, so our pediatrician admitted her. And before you ask, no, we have no idea what brought all of this on. As usual, many tests have been run, and nothing stands out as the cause yet. Her blood work was little off, and her cortisol was low, but nothing too major. We are hoping she can go home late tonight or tomorrow. I'm afraid that I might have to do my beg/threaten/almost-get-myself-arrested-for-all-the-harassment routine again--you know, the one I whip out every time Camille is in the hospital and I feel like I am going to die if we have to stay one more minute?
And you know what the real kicker is? We get to do this all again next week. Yes, next Wednesday, we are scheduled to be admitted to Cooks for a 24-hour EEG and a new MRI. We're just a bunch of hospital hoppers, that's what we are. We like to switch things up at our house. Hillcrest in Waco one week, Cooks in Fort Worth the next. Why not, right? Oh, and it's gonna be fun times next week for sure. Did I mention that they are going to video Camille the whole time she is admitted so that they can try to match up her abnormal movement pattern and her brain activity? Did you catch that? Everything that Camille or I do or say for 24 hours is going to be recorded. I feel sorry for whoever has to watch that video. Talk about some bad reality TV. Camille and her mama do not like being cooped up in the hospital. Pray for us, please.
In other news, Camille has also had several apnea episodes in the past few weeks. I had mentioned before that she was now on an apnea monitor, but that she hadn't had any episodes. Well, I spoke too soon, as usual, and she has now had several. I realized after I posted this a while back that some of you might be wondering what the big deal about apnea is. A lot of people get apnea, right? Yes, apnea is common in newborns born prematurely and adults. But it is not common in a child Camille's age. Even more than that, they believe she is having Central Apnea, which is even less common and not easily treatable. Central Apnea means that there is a neurological cause--i.e. something in Camille's brain is not firing correctly and failing to remind her to breathe. To be considered an apnea episode, she has to not breathe for at least 20 consecutive seconds, which completely freaks me out when I think about her doing that in her sleep. Her heart rate is also continuing to drop repeatedly, but this is not new. It is, however, dropping lower than it was before, which was the main concern that her cardiologist had the last time we saw him. We will see him again in a couple of weeks, but I'm really not hopeful about any more answers in that department. I am still hoping that this is just a little quirk--abnormal for everyone else, but normal for Camille.
Speaking of "normal", despite all of these new developments, we have been enjoying our rather "normal" summer. Henry and Camille have enjoyed being outside, going to the splash parks, meeting friends at the museum, etc. I want so desperately for our kids to have as "normal" of a life as possible, in between all of the tube feedings and therapy sessions and doctors appointments and hospitalizations. And most of the time, I feel like our lives are completely "normal".
Then something will happen like Henry dragging out our air pump and pretending to hook it up to Camille to "feed" her. After all, one pump is the same as another, right? It's so crazy how "normal" tube feeding has become to all of us when I'm sure it is still so foreign to everyone else.
Or my most recent favorite--the stares and questions we are starting to get. I will be out in public with Camille, thinking that we look just like a regular mama and baby, but apparently we don't. I guess that as Camille gets older, it is becoming more apparent that she is not the "same" as other kids her age. For example, take this recent conversation we had at the splash park.
Woman (approaches me out of the blue and asks): How old is your baby?
Me: She just turned a year old.
Woman (confused): Oh. Is she (long pause while searching for the correct word to use) okay?
Me: (Totally wanting to just say "Why yes! Whatever do you mean?") Well, she has some special needs. No one is really sure what she has, though.
The conversation went on, and it really didn't bother me, but it just made me realize that however "normal" I think we are, I guess we're not.
But that's okay with me too. Who needs normal anyway?
First, we are (yet again) in the hospital here in Waco. Camille started vomiting last week, and it just kept getting worse. She was dehydrated yesterday, so our pediatrician admitted her. And before you ask, no, we have no idea what brought all of this on. As usual, many tests have been run, and nothing stands out as the cause yet. Her blood work was little off, and her cortisol was low, but nothing too major. We are hoping she can go home late tonight or tomorrow. I'm afraid that I might have to do my beg/threaten/almost-get-myself-arrested-for-all-the-harassment routine again--you know, the one I whip out every time Camille is in the hospital and I feel like I am going to die if we have to stay one more minute?
And you know what the real kicker is? We get to do this all again next week. Yes, next Wednesday, we are scheduled to be admitted to Cooks for a 24-hour EEG and a new MRI. We're just a bunch of hospital hoppers, that's what we are. We like to switch things up at our house. Hillcrest in Waco one week, Cooks in Fort Worth the next. Why not, right? Oh, and it's gonna be fun times next week for sure. Did I mention that they are going to video Camille the whole time she is admitted so that they can try to match up her abnormal movement pattern and her brain activity? Did you catch that? Everything that Camille or I do or say for 24 hours is going to be recorded. I feel sorry for whoever has to watch that video. Talk about some bad reality TV. Camille and her mama do not like being cooped up in the hospital. Pray for us, please.
In other news, Camille has also had several apnea episodes in the past few weeks. I had mentioned before that she was now on an apnea monitor, but that she hadn't had any episodes. Well, I spoke too soon, as usual, and she has now had several. I realized after I posted this a while back that some of you might be wondering what the big deal about apnea is. A lot of people get apnea, right? Yes, apnea is common in newborns born prematurely and adults. But it is not common in a child Camille's age. Even more than that, they believe she is having Central Apnea, which is even less common and not easily treatable. Central Apnea means that there is a neurological cause--i.e. something in Camille's brain is not firing correctly and failing to remind her to breathe. To be considered an apnea episode, she has to not breathe for at least 20 consecutive seconds, which completely freaks me out when I think about her doing that in her sleep. Her heart rate is also continuing to drop repeatedly, but this is not new. It is, however, dropping lower than it was before, which was the main concern that her cardiologist had the last time we saw him. We will see him again in a couple of weeks, but I'm really not hopeful about any more answers in that department. I am still hoping that this is just a little quirk--abnormal for everyone else, but normal for Camille.
Speaking of "normal", despite all of these new developments, we have been enjoying our rather "normal" summer. Henry and Camille have enjoyed being outside, going to the splash parks, meeting friends at the museum, etc. I want so desperately for our kids to have as "normal" of a life as possible, in between all of the tube feedings and therapy sessions and doctors appointments and hospitalizations. And most of the time, I feel like our lives are completely "normal".
Then something will happen like Henry dragging out our air pump and pretending to hook it up to Camille to "feed" her. After all, one pump is the same as another, right? It's so crazy how "normal" tube feeding has become to all of us when I'm sure it is still so foreign to everyone else.
Or my most recent favorite--the stares and questions we are starting to get. I will be out in public with Camille, thinking that we look just like a regular mama and baby, but apparently we don't. I guess that as Camille gets older, it is becoming more apparent that she is not the "same" as other kids her age. For example, take this recent conversation we had at the splash park.
Woman (approaches me out of the blue and asks): How old is your baby?
Me: She just turned a year old.
Woman (confused): Oh. Is she (long pause while searching for the correct word to use) okay?
Me: (Totally wanting to just say "Why yes! Whatever do you mean?") Well, she has some special needs. No one is really sure what she has, though.
The conversation went on, and it really didn't bother me, but it just made me realize that however "normal" I think we are, I guess we're not.
But that's okay with me too. Who needs normal anyway?
Sunday, June 13, 2010
Lately
Lately, our little girl turned the big ONE. It was so hard to believe--in some ways, it seems like she was just born, but in other ways, it seems like this has been the longest year of our lives. I told Camille on her birthday morning that she has seen more doctors and had more tests and treatments in her one year than most people do their whole lives. She smiled and grunted at me in response. We celebrated the actual big day, which was a Wednesday, by taking Camille down to the Scott and White NICU. When Camille was in the NICU, I would see families bringing their children back to visit, and I would think to myself that I would never do such a thing. If I ever got Camille out--and most days it felt like that would never happen--then we were hitting the road and never looking back. But as Camille's birthday approached, I began to want to go back to the NICU, not necessarily to see anyone in particular or do anything in particular, but just to give myself a reminder of how far Camille has come. So we went down, took some pictures (her neonatologist was unfortunately out on vacation and so we didn't get to see her), and had a nice lunch at a little restaurant in Temple. Later, we all went to the Waco Water Park, and Camille loved getting to splash (or rather, be splashed by her brother) in the water. Then, we finished up the birthday week with a very warm cookout in the park. We could have called it the Camille Lynne Sweat Fest instead. Who knew it would already be close to 100 degrees in Waco at the beginning of June? We were so grateful for all of the friends and family who came out and sweat, I mean celebrated, with us.
Lately, things have been a little more troublesome health-wise for Camille. Her jerky movements have increased significantly in the past month, which led us to have to take her to see her neurologist again sooner than we had planned. After seeing her and her movements now, he was finally able to put a name to them. She has what's called Myoclonus, which basically means uncontrollable jerky muscle movements. When he said this name, I latched on to it like a rabid dog. I started fumbling around for a pen, and asked him repeatedly to spell it so that I could make sure I had it written down correctly. He looked at me strangely, and said, "Well, Myoclonus only describes her abnormal movements, not her entire condition." (Our neurologist has been wonderful, by the way, about encouraging us to find an overall diagnosis for Camille, and has said that he thought we are right to seek out multiple opinions from geneticists until we find our answer). I told him that I was just so excited to have a name for something. I can finally tell people something other than, "And she has these weird movement things that no one can name." Plus, I can go enter something else into my database--this little tidbit, however, I kept to myself and did not share with the neurologist. The thing about Myoclonus, though, is that it is usually related to epilepsy. The neurologist said that it is related to seizures in almost every child he has ever seen with it, but in Camille's case, he doesn't think it is. He's not sure what is causing it to happen, and what is causing it to get worse, other than it is something occurring in her brain. So, he is going to treat it with a new medication, which he said would hopefully lessen it, not take it away completely. And then he is also going to do a new MRI and a 24 hour EEG, to see if they can see more of what is going on in Camille's brain now that she is bigger and older. The other new medical issue is that Camille has had a blue face and lips when I have gone to wake her up from a nap twice now in the past 2 weeks. Therefore, she is now also on an apnea monitor at night. So far, so good, and the monitor has not alarmed indicating any apnea at all. Not so good, however, that we don't know what those spells are from, if they are not due to apnea, and that we have yet another set of tubes and wires to hook up to our baby every night.
So lately, I have been doing too much pondering. Too much worrying. Too much looking ahead. Too much feeling sorry for myself. What are we going to do if all of this continues? Our neurologist, who is the most wonderful person in the world, said very kindly when talking about Camille's Myoclonus that it was something that would never be cured, but that we could hopefully lessen it with treatment. He said that the goal was to just make this a livable situation for us. Right now, it's truly not. Her irritability has increased with her myoclonic movements. And her movements have made it hard to do almost anything. If you can imagine having these constant, uncontrollable jerks happening all over your body, then you can imagine what Camille is feeling all day everyday right now. It's miserable. It affects sleeping, eating, any type of motor activity. We can sometimes barely hold Camille when it gets really bad.
And the fact that this has all gotten worse right around Camille's first birthday has been really hard. I try not to, but I keep thinking about all that Henry was doing around his first birthday, and my heart breaks. He was doing things at one year that I'm not sure she'll ever do in her life time. And the way she has been so miserable and unhappy these past few weeks makes me feel even worse. We had several really good months where she was so happy and hardly cried at all. These past few weeks have been reminiscent of her early days where she cried all day long. I just keep thinking that this is not the life I wanted for my child.
Lately, I am reminded of two things that comfort me. One is the best advice that I think anyone could give the parent of a sick or special needs child. These words came from my Aunt Jena the day after Camille was born. "Take it one day at a time." I simply can't look ahead, can't imagine what our lives will be like if what is happening now continues. It's too overwhelming. All I can do is get through this one day. That's doable. The second is 5 words I received in a text message from a friend shortly after Camille was born. "God will not leave you." That's all it said, those 5 words. And perhaps those are the greatest words of comfort there are.
Lately, things have been a little more troublesome health-wise for Camille. Her jerky movements have increased significantly in the past month, which led us to have to take her to see her neurologist again sooner than we had planned. After seeing her and her movements now, he was finally able to put a name to them. She has what's called Myoclonus, which basically means uncontrollable jerky muscle movements. When he said this name, I latched on to it like a rabid dog. I started fumbling around for a pen, and asked him repeatedly to spell it so that I could make sure I had it written down correctly. He looked at me strangely, and said, "Well, Myoclonus only describes her abnormal movements, not her entire condition." (Our neurologist has been wonderful, by the way, about encouraging us to find an overall diagnosis for Camille, and has said that he thought we are right to seek out multiple opinions from geneticists until we find our answer). I told him that I was just so excited to have a name for something. I can finally tell people something other than, "And she has these weird movement things that no one can name." Plus, I can go enter something else into my database--this little tidbit, however, I kept to myself and did not share with the neurologist. The thing about Myoclonus, though, is that it is usually related to epilepsy. The neurologist said that it is related to seizures in almost every child he has ever seen with it, but in Camille's case, he doesn't think it is. He's not sure what is causing it to happen, and what is causing it to get worse, other than it is something occurring in her brain. So, he is going to treat it with a new medication, which he said would hopefully lessen it, not take it away completely. And then he is also going to do a new MRI and a 24 hour EEG, to see if they can see more of what is going on in Camille's brain now that she is bigger and older. The other new medical issue is that Camille has had a blue face and lips when I have gone to wake her up from a nap twice now in the past 2 weeks. Therefore, she is now also on an apnea monitor at night. So far, so good, and the monitor has not alarmed indicating any apnea at all. Not so good, however, that we don't know what those spells are from, if they are not due to apnea, and that we have yet another set of tubes and wires to hook up to our baby every night.
So lately, I have been doing too much pondering. Too much worrying. Too much looking ahead. Too much feeling sorry for myself. What are we going to do if all of this continues? Our neurologist, who is the most wonderful person in the world, said very kindly when talking about Camille's Myoclonus that it was something that would never be cured, but that we could hopefully lessen it with treatment. He said that the goal was to just make this a livable situation for us. Right now, it's truly not. Her irritability has increased with her myoclonic movements. And her movements have made it hard to do almost anything. If you can imagine having these constant, uncontrollable jerks happening all over your body, then you can imagine what Camille is feeling all day everyday right now. It's miserable. It affects sleeping, eating, any type of motor activity. We can sometimes barely hold Camille when it gets really bad.
And the fact that this has all gotten worse right around Camille's first birthday has been really hard. I try not to, but I keep thinking about all that Henry was doing around his first birthday, and my heart breaks. He was doing things at one year that I'm not sure she'll ever do in her life time. And the way she has been so miserable and unhappy these past few weeks makes me feel even worse. We had several really good months where she was so happy and hardly cried at all. These past few weeks have been reminiscent of her early days where she cried all day long. I just keep thinking that this is not the life I wanted for my child.
Lately, I am reminded of two things that comfort me. One is the best advice that I think anyone could give the parent of a sick or special needs child. These words came from my Aunt Jena the day after Camille was born. "Take it one day at a time." I simply can't look ahead, can't imagine what our lives will be like if what is happening now continues. It's too overwhelming. All I can do is get through this one day. That's doable. The second is 5 words I received in a text message from a friend shortly after Camille was born. "God will not leave you." That's all it said, those 5 words. And perhaps those are the greatest words of comfort there are.
Saturday, May 29, 2010
So it's been a while...
Has it really been two months since I last posted? I wish I had some grand explanation for why that is. I really don't. Things have actually been quite--dare I say?--normal for us these past two months. I think I got so caught up trying to keep us in our "normal" state that I put things like blogging aside. I guess you could say I was in full "prevent a crisis" mode. I kept thinking that since we hadn't had a true crisis in a while, we were due for one soon, and I was busy trying to keep that from happening.
That sounds like a good explanation, right?
Let's go with that one then.
And not the fact that I have been spending way too much time watching back episodes of Bones, and reading blogs about Bones, and Facebooking friends about Bones. Did you know that there is this whole online Bones community made up of thousands of Bones-crazed people? They have biggest fan awards and everything. And no, I have not joined this community. I'm more of a wannabe, a lurker, if you will.
Or there's also the fact that I kept realizing that it had been so long since I last blogged that I had way too much to say, so much in fact that I really didn't know how to say it in a comprehensible manner, and so many times I would sit down at the computer and type up a rambling post that I would promptly delete and, well, go back to checking out the latest behind-the-scenes photos for Bones.
See, the first explanation is best.
I am, however, prepared to make a Memorial Day resolution to you all that I will try my very best from now on to post at least twice a week about my adorable children.
I must confess, though, that I feel confident in making such a resolution only because Bones is now over for the summer. The fall might be a different story. Don't say I didn't warn you.
Onto what you really want to hear.
Camille has been doing really well. She has become much more social in recent months. I can usually make her laugh this great little grunting laugh by tickling her tummy or neck, or by saying "pop!" For some reason, she thinks the word "pop" is hilarious. She is still not sitting independently yet, but can sit for a few seconds unassisted. She can also get up on her hands and knees in the crawling position for a few seconds as well. We can tell that she wants to crawl so badly, most likely to chase around that crazy brother of hers, but she just isn't there yet. We feel like what is most preventing her most from being able to sit and crawl is her abnormal movement pattern (some call it ataxia, others dystonia). She has very jerky, puppet like movements, and this obviously causes great issues in balance and coordination. Jason and I have felt recently that these movements have gotten worse, and they will likely do another MRI of Camille's brain in July to see if something has changed that would be causing this. These movements also make it hard for Camille to sleep and eat.
Ah, sleeping and eating. The two biggies for our little girl. Camille is sleeping very well right now, and has been for the past two months. We are so thankful for this! She will usually sleep 11 to 12 hours at night, sometimes straight through without a peep, sometimes waking up but putting herself back to sleep after a few minutes of "talking". I always wonder what she is saying in those moments. We hear her on the monitor having some sort of animated conversation with someone, most likely her light-up seahorse who she adores, and then after a few minutes, she'll have put herself back to sleep.
As for eating, I'm really not too sure what to say about that at this point. About a month ago, we asked our GI if we could try just giving Camille her 12 hour night feed through her button, and then feed her only orally during the day to see if we could get her to eat more orally this way. Before, we had been doing the continuous night feed through the button plus several other button feedings during the day, with some oral feeding in between. Our hope was that Camille would be hungrier, and therefore eat more orally, if we just did oral feeding during the day. Well, let's just say that some days are better than others. Some days I can get her to eat an entire jar of baby food at one sitting, other days she will gag on the first bite and I can hardly get anything down. It's a work in progress, a work that I feel is so valuable. I want my little girl to eat. A post all on eating is coming your way. I've been composing it in my head for quite some time now. Get excited.
As for medical issues, the only really new thing is that Camille is taking her steroid for her CAH, and that has gone well.
Oh, and we saw a new geneticist.
Did that sound like an afterthought? I guess it kind of is. I decided shortly after Camille's hormone issues were settled that now that she was older and we had some of her symptoms figured out, that it might be an appropriate time to see a new geneticist. A fresh pair of eyes to evaluate her now that she was presenting us with more "clues" to her condition. I decided to make her an appointment to see a geneticist in Austin who is in the same group with her new GI. We have loved this group, and so I thought I would give it a shot. I had also heard from others that this geneticist was very "thorough." That sounds good, right?
After our appointment on Wednesday, I would say that I would agree with the "thorough" assessment. I also found that this geneticist, like our GI, was very "nice". But, nice no longer cuts it for me. I like for Camille's doctors to be "nice". I like them to be kind and compassionate and understanding. That's a real bonus for me. But I would give up all of those things in a heartbeat if I had a doctor with zero bed-side manner, but the drive and determination to figure out what is going on with my child. Bring on Dr. House. I can handle a little saltiness, as long as you throw in a lot of stubbornness and determination too.
This geneticist was not our Dr. House. She was nice, she was compassionate, she probably knew her stuff, but she had no idea what Camille had, and what's worse, she didn't seem to have any plans to figure it out. She took down all of Camille's history in a very "thorough" manner; stated how Camille had already seen several very good geneticists; and then, of course, gave us the whole spiel about how sometimes they never find out what a child has, and so we might want to consider accepting that as our reality.
I was okay on Wednesday, immediately following our appointment. It didn't hit me until Thursday morning how frustrated I was about it. I got so angry, probably more angry than I have been in a long time. I called a friend and literally shouted into the phone, "I'm so sick of these doctors! I'm sick of their 'I don't knows'! I am sick of them shrugging their shoulders at me, saying that they are very sorry but they have no idea what is going on with my daughter, and then expecting that to be okay! In what other stinking profession does someone get to say 'I don't know, and I don't have any plans to find out for you' and get away with it?"
Thank goodness for good friends who will listen to a good old fashioned rant.
But the more I thought about it, the more I realized that even though most of the doctors we have seen have not known what Camille has, and not seemed committed to figuring it out, what bothered me most about this particular geneticist is that she seemed surprised that I was still searching after receiving several "I don't know's". Is it that other parents get a "Wow, your child has something, but I sure don't know what it is!" and they're okay with that? They just take that and move on? Really? I can't imagine that anyone in my place would accept an "I don't know" and not continue to look for the answer.
Yes, I want to know what Camille has in order to know what her future will hold. Yes, I want to know what Camille has in order to be able to possibly seek out other families with children with the same diagnosis. Yes, I want to know what Camille has so that I can know if Henry runs the risk of passing this onto his children.
But most of all, I want to know what Camille has because I simply want to know who she is. Whatever she has is a big part of who she is. What better way to give your child, who has suffered so much, some sense of dignity than to figure out why she is the way that she is.
And so I guess I'll keep searching. I think it's only human to do so. And I think it's the greatest gift I can give my daughter, the gift of knowing who she is.
That sounds like a good explanation, right?
Let's go with that one then.
And not the fact that I have been spending way too much time watching back episodes of Bones, and reading blogs about Bones, and Facebooking friends about Bones. Did you know that there is this whole online Bones community made up of thousands of Bones-crazed people? They have biggest fan awards and everything. And no, I have not joined this community. I'm more of a wannabe, a lurker, if you will.
Or there's also the fact that I kept realizing that it had been so long since I last blogged that I had way too much to say, so much in fact that I really didn't know how to say it in a comprehensible manner, and so many times I would sit down at the computer and type up a rambling post that I would promptly delete and, well, go back to checking out the latest behind-the-scenes photos for Bones.
See, the first explanation is best.
I am, however, prepared to make a Memorial Day resolution to you all that I will try my very best from now on to post at least twice a week about my adorable children.
I must confess, though, that I feel confident in making such a resolution only because Bones is now over for the summer. The fall might be a different story. Don't say I didn't warn you.
Onto what you really want to hear.
Camille has been doing really well. She has become much more social in recent months. I can usually make her laugh this great little grunting laugh by tickling her tummy or neck, or by saying "pop!" For some reason, she thinks the word "pop" is hilarious. She is still not sitting independently yet, but can sit for a few seconds unassisted. She can also get up on her hands and knees in the crawling position for a few seconds as well. We can tell that she wants to crawl so badly, most likely to chase around that crazy brother of hers, but she just isn't there yet. We feel like what is most preventing her most from being able to sit and crawl is her abnormal movement pattern (some call it ataxia, others dystonia). She has very jerky, puppet like movements, and this obviously causes great issues in balance and coordination. Jason and I have felt recently that these movements have gotten worse, and they will likely do another MRI of Camille's brain in July to see if something has changed that would be causing this. These movements also make it hard for Camille to sleep and eat.
Ah, sleeping and eating. The two biggies for our little girl. Camille is sleeping very well right now, and has been for the past two months. We are so thankful for this! She will usually sleep 11 to 12 hours at night, sometimes straight through without a peep, sometimes waking up but putting herself back to sleep after a few minutes of "talking". I always wonder what she is saying in those moments. We hear her on the monitor having some sort of animated conversation with someone, most likely her light-up seahorse who she adores, and then after a few minutes, she'll have put herself back to sleep.
As for eating, I'm really not too sure what to say about that at this point. About a month ago, we asked our GI if we could try just giving Camille her 12 hour night feed through her button, and then feed her only orally during the day to see if we could get her to eat more orally this way. Before, we had been doing the continuous night feed through the button plus several other button feedings during the day, with some oral feeding in between. Our hope was that Camille would be hungrier, and therefore eat more orally, if we just did oral feeding during the day. Well, let's just say that some days are better than others. Some days I can get her to eat an entire jar of baby food at one sitting, other days she will gag on the first bite and I can hardly get anything down. It's a work in progress, a work that I feel is so valuable. I want my little girl to eat. A post all on eating is coming your way. I've been composing it in my head for quite some time now. Get excited.
As for medical issues, the only really new thing is that Camille is taking her steroid for her CAH, and that has gone well.
Oh, and we saw a new geneticist.
Did that sound like an afterthought? I guess it kind of is. I decided shortly after Camille's hormone issues were settled that now that she was older and we had some of her symptoms figured out, that it might be an appropriate time to see a new geneticist. A fresh pair of eyes to evaluate her now that she was presenting us with more "clues" to her condition. I decided to make her an appointment to see a geneticist in Austin who is in the same group with her new GI. We have loved this group, and so I thought I would give it a shot. I had also heard from others that this geneticist was very "thorough." That sounds good, right?
After our appointment on Wednesday, I would say that I would agree with the "thorough" assessment. I also found that this geneticist, like our GI, was very "nice". But, nice no longer cuts it for me. I like for Camille's doctors to be "nice". I like them to be kind and compassionate and understanding. That's a real bonus for me. But I would give up all of those things in a heartbeat if I had a doctor with zero bed-side manner, but the drive and determination to figure out what is going on with my child. Bring on Dr. House. I can handle a little saltiness, as long as you throw in a lot of stubbornness and determination too.
This geneticist was not our Dr. House. She was nice, she was compassionate, she probably knew her stuff, but she had no idea what Camille had, and what's worse, she didn't seem to have any plans to figure it out. She took down all of Camille's history in a very "thorough" manner; stated how Camille had already seen several very good geneticists; and then, of course, gave us the whole spiel about how sometimes they never find out what a child has, and so we might want to consider accepting that as our reality.
I was okay on Wednesday, immediately following our appointment. It didn't hit me until Thursday morning how frustrated I was about it. I got so angry, probably more angry than I have been in a long time. I called a friend and literally shouted into the phone, "I'm so sick of these doctors! I'm sick of their 'I don't knows'! I am sick of them shrugging their shoulders at me, saying that they are very sorry but they have no idea what is going on with my daughter, and then expecting that to be okay! In what other stinking profession does someone get to say 'I don't know, and I don't have any plans to find out for you' and get away with it?"
Thank goodness for good friends who will listen to a good old fashioned rant.
But the more I thought about it, the more I realized that even though most of the doctors we have seen have not known what Camille has, and not seemed committed to figuring it out, what bothered me most about this particular geneticist is that she seemed surprised that I was still searching after receiving several "I don't know's". Is it that other parents get a "Wow, your child has something, but I sure don't know what it is!" and they're okay with that? They just take that and move on? Really? I can't imagine that anyone in my place would accept an "I don't know" and not continue to look for the answer.
Yes, I want to know what Camille has in order to know what her future will hold. Yes, I want to know what Camille has in order to be able to possibly seek out other families with children with the same diagnosis. Yes, I want to know what Camille has so that I can know if Henry runs the risk of passing this onto his children.
But most of all, I want to know what Camille has because I simply want to know who she is. Whatever she has is a big part of who she is. What better way to give your child, who has suffered so much, some sense of dignity than to figure out why she is the way that she is.
And so I guess I'll keep searching. I think it's only human to do so. And I think it's the greatest gift I can give my daughter, the gift of knowing who she is.
Tuesday, March 30, 2010
A Diagnosis
Well, we have a diagnosis. Sort of. I am thinking of it as a partial diagnosis. As in part 1 of 2 or maybe 3. I should explain.
You see, it is now believed that Camille has at least two genetic conditions. The syndrome, or condition, that is causing what I consider to be the majority of her issues, is still unknown or undiagnosed.
However, we now know what is causing her endocrine/hormone problems. She has been diagnosed with a rare form of non-classical Congenital Adrenal Hyperplasia (CAH), the 3-beta form. This form of CAH is so rare, that of the people who have CAH, only 1% of them have this form. It is inherited genetically in an autosomal recessive pattern, meaning Jason and I are more than likely each carriers for it.
Or maybe not.
I should explain again.
Here is where it gets tricky. You see, this is a very rare condition. And then, whatever else Camille has that accounts for all of her other issues (small for gestational age, small head, failure to thrive, eating difficulties, developmental delay) is also rare, so rare in fact that it cannot even be determined at this time. What are the chances of her inheriting two very rare conditions from me and Jason? In other words, what are the chances of Jason and I both being carriers of two of the same rare conditions and then meeting up and getting married and having children?
Basically slim to none.
And so, what the geneticist in Houston proposed might have happened was this. We all inherit two copies of each of the 23 chromosomes in our body, one copy from each parent. Each chromosome is made up of thousands of genes. Each of us are carriers for at least 6, probably more like 10 or more, genetic syndromes (mutations on those genes). Most of the time, parents are not carriers for the same syndromes, since there are thousands. Even if they are, then there is still only a 25% chance at each pregnancy that the baby would inherit the syndrome, depending on if the baby inherited a mutated copy of the gene from each parent.
However, the geneticists believe that what may have happened with Camille is that she inherited two copies of one of the chromosomes from the same parent, either me or Jason, instead of inheriting one copy from each parent. Therefore, if she inherited two chromosomes from me or two chromosomes from Jason, basically a duplicated chromosome, then she would have a 100% chance of getting whatever that parent was a carrier for along that chromosome because both chromosomes would definitely have the mutated genes.
Have I lost you yet?
So, the good news about having a diagnosis of 3-beta CAH is that we might be able to use it to determine what the other syndrome is. If they now know that Camille has CAH, and what chromosome that form of CAH is located on, then they can look at what other syndromes are also on that chromosome, and see if any of them match Camille's other "symptoms".
The bad news? This form of CAH, as with most forms of CAH, can be life-threatening if not treated properly. Let me explain a little about what CAH is. You can also google it, but you won't find much about the 3-beta form, and you know that's coming from the Google Queen.
In a nutshell, what happens in all forms of CAH is that the adrenal glands (located above the kidneys) do not produce enough cortisol. "Cortisol is a steroid produced by the adrenal glands that our bodies need to: (1) deal with physical and emotional stress, and (2) maintain adequate energy supply and blood sugar levels" (caresfoundation.org). Deficiency in cortisol also leads to overproduction of other hormones, which we saw with Camille in the form of DHEA overproduction. This overproduction of hormones leads to the overt symptoms of CAH, like the signs of early puberty that we saw with Camille. Babies with CAH can also have ambiguous genitalia from the overproduction of these hormones, which thankfully Camille does not have.
The main issue now is that because Camille's adrenal glands do not produce enough cortisol, she could suffer from adrenal crisis, especially when her body is stressed (i.e. in times of illness). Therefore, we are going to have to start treating her with a steroid. She will take a regular maintenance dose twice a day, and then when she is sick, she will take a stress dose, which is basically an increased dose. If she were ever to get really sick, in particular, vomiting so much that she couldn't keep her medicine down, then we would have to inject her with a dose. Jason and I are supposed to go up to Cooks next week to be taught how to inject Camille should this ever happen.
Could it get any more fun than that?
And so, for the million dollar question, how are we taking all of this? For some reason, I am taking it very hard. First, it's just scary to me to hear the words "life-threatening". And, it's also scary that we are the ones who decide when to do the stress dose, or when to do the injected dose. What if we screw up and do it when it is unnecessary, or worse, what if we screw up and don't do it when we should have and she goes into adrenal crisis? Talk about pressure!
And here's the other thing that's driving me crazy. This diagnosis doesn't even account for all of the other huge stuff Camille has going on! It's not even what anyone would consider her "main" diagnosis! And so we have this new condition, which can be life-threatening, which requires more medication and more regular appointments and blood draws every few weeks---and it doesn't even explain the half of it! Or even a fourth of it!
I am really trying hard to keep things in perspective here. One, I'm thankful that this is treatable. Two, I'm so relieved that she doesn't have an adrenal or ovarian tumor, the other option of what could have been causing the hormone issues. Three, I am glad that we at least know something about what is going on in Camille's little body.
But that doesn't stop that little niggle of irritation from occurring, where I think over and over in my head, "REALLY? REALLY?" My baby girl has at least two genetic conditions that are causing her all of these problems, when most babies have none? And all of this occurred because of something that was out of our control, a random mutation that happened before I even knew I was pregnant, a "fluke" or "round of bad luck"? Those thoughts just make me want to scream and pull all my hair out, or at least have several really loaded margaritas.
But as I have tried to do from the very beginning, and believe me, I still fail miserably at it every day, I am still trying to see the goodness in this. There is certainly no goodness in any of these "diagnoses", but there is goodness in Camille. I can't believe my little girl is only 2 months away from her 1st birthday. She has become a really easy baby (everyone stop reading this now and knock on some wood nearby). She is happy nearly all of the time now, smiling, laughing, squealing, talking. She is a true joy. And we just love her to pieces.
She could have 20 genetic conditions, and it wouldn't change that.
You see, it is now believed that Camille has at least two genetic conditions. The syndrome, or condition, that is causing what I consider to be the majority of her issues, is still unknown or undiagnosed.
However, we now know what is causing her endocrine/hormone problems. She has been diagnosed with a rare form of non-classical Congenital Adrenal Hyperplasia (CAH), the 3-beta form. This form of CAH is so rare, that of the people who have CAH, only 1% of them have this form. It is inherited genetically in an autosomal recessive pattern, meaning Jason and I are more than likely each carriers for it.
Or maybe not.
I should explain again.
Here is where it gets tricky. You see, this is a very rare condition. And then, whatever else Camille has that accounts for all of her other issues (small for gestational age, small head, failure to thrive, eating difficulties, developmental delay) is also rare, so rare in fact that it cannot even be determined at this time. What are the chances of her inheriting two very rare conditions from me and Jason? In other words, what are the chances of Jason and I both being carriers of two of the same rare conditions and then meeting up and getting married and having children?
Basically slim to none.
And so, what the geneticist in Houston proposed might have happened was this. We all inherit two copies of each of the 23 chromosomes in our body, one copy from each parent. Each chromosome is made up of thousands of genes. Each of us are carriers for at least 6, probably more like 10 or more, genetic syndromes (mutations on those genes). Most of the time, parents are not carriers for the same syndromes, since there are thousands. Even if they are, then there is still only a 25% chance at each pregnancy that the baby would inherit the syndrome, depending on if the baby inherited a mutated copy of the gene from each parent.
However, the geneticists believe that what may have happened with Camille is that she inherited two copies of one of the chromosomes from the same parent, either me or Jason, instead of inheriting one copy from each parent. Therefore, if she inherited two chromosomes from me or two chromosomes from Jason, basically a duplicated chromosome, then she would have a 100% chance of getting whatever that parent was a carrier for along that chromosome because both chromosomes would definitely have the mutated genes.
Have I lost you yet?
So, the good news about having a diagnosis of 3-beta CAH is that we might be able to use it to determine what the other syndrome is. If they now know that Camille has CAH, and what chromosome that form of CAH is located on, then they can look at what other syndromes are also on that chromosome, and see if any of them match Camille's other "symptoms".
The bad news? This form of CAH, as with most forms of CAH, can be life-threatening if not treated properly. Let me explain a little about what CAH is. You can also google it, but you won't find much about the 3-beta form, and you know that's coming from the Google Queen.
In a nutshell, what happens in all forms of CAH is that the adrenal glands (located above the kidneys) do not produce enough cortisol. "Cortisol is a steroid produced by the adrenal glands that our bodies need to: (1) deal with physical and emotional stress, and (2) maintain adequate energy supply and blood sugar levels" (caresfoundation.org). Deficiency in cortisol also leads to overproduction of other hormones, which we saw with Camille in the form of DHEA overproduction. This overproduction of hormones leads to the overt symptoms of CAH, like the signs of early puberty that we saw with Camille. Babies with CAH can also have ambiguous genitalia from the overproduction of these hormones, which thankfully Camille does not have.
The main issue now is that because Camille's adrenal glands do not produce enough cortisol, she could suffer from adrenal crisis, especially when her body is stressed (i.e. in times of illness). Therefore, we are going to have to start treating her with a steroid. She will take a regular maintenance dose twice a day, and then when she is sick, she will take a stress dose, which is basically an increased dose. If she were ever to get really sick, in particular, vomiting so much that she couldn't keep her medicine down, then we would have to inject her with a dose. Jason and I are supposed to go up to Cooks next week to be taught how to inject Camille should this ever happen.
Could it get any more fun than that?
And so, for the million dollar question, how are we taking all of this? For some reason, I am taking it very hard. First, it's just scary to me to hear the words "life-threatening". And, it's also scary that we are the ones who decide when to do the stress dose, or when to do the injected dose. What if we screw up and do it when it is unnecessary, or worse, what if we screw up and don't do it when we should have and she goes into adrenal crisis? Talk about pressure!
And here's the other thing that's driving me crazy. This diagnosis doesn't even account for all of the other huge stuff Camille has going on! It's not even what anyone would consider her "main" diagnosis! And so we have this new condition, which can be life-threatening, which requires more medication and more regular appointments and blood draws every few weeks---and it doesn't even explain the half of it! Or even a fourth of it!
I am really trying hard to keep things in perspective here. One, I'm thankful that this is treatable. Two, I'm so relieved that she doesn't have an adrenal or ovarian tumor, the other option of what could have been causing the hormone issues. Three, I am glad that we at least know something about what is going on in Camille's little body.
But that doesn't stop that little niggle of irritation from occurring, where I think over and over in my head, "REALLY? REALLY?" My baby girl has at least two genetic conditions that are causing her all of these problems, when most babies have none? And all of this occurred because of something that was out of our control, a random mutation that happened before I even knew I was pregnant, a "fluke" or "round of bad luck"? Those thoughts just make me want to scream and pull all my hair out, or at least have several really loaded margaritas.
But as I have tried to do from the very beginning, and believe me, I still fail miserably at it every day, I am still trying to see the goodness in this. There is certainly no goodness in any of these "diagnoses", but there is goodness in Camille. I can't believe my little girl is only 2 months away from her 1st birthday. She has become a really easy baby (everyone stop reading this now and knock on some wood nearby). She is happy nearly all of the time now, smiling, laughing, squealing, talking. She is a true joy. And we just love her to pieces.
She could have 20 genetic conditions, and it wouldn't change that.
Wednesday, March 17, 2010
Luck of the Irish?
Not sure if it is the luck of the Irish, but we are so happy to report that Camille has slept through the night with only one middle-of-the-night-wake-up for over 2 weeks now! If you have seen us recently, you may have noticed that we are a lot happier and looking a tad less like dead people walking. Let's be honest here--we still have Mr. Action and Miss High-Maintenance keeping us very busy during the day, so we still don't look great. But looking a little less like death-warmed-over is good enough for us. It's amazing what sleep can do!
And so what really caused this new change in luck? I'm going with Camille's new formula. Her new gastro had us switch her formula from Elecare to a regular ol' Similac. Wow, regular formula! That you can buy in a regular store! And not sell body parts in order to pay for it! And it apparently helps your baby sleep through the night! Greatness! Apparently, the gastro thought that the Elecare could have been "dumping" out of Camille's stomach too fast, causing pain and discomfort. He was hoping this change would help with irritability and sleep. So, we switched Camille to Similac, and the night that the transition was complete was the first night that she slept all night. Ten whole hours instead of her regular two. Again, greatness! I told our Gastro as much on Friday when we saw him again to follow-up on this new change. I gushed about how appreciative we were. I really wanted to tell him that he was a genius and then kiss his feet, but I held myself back. Again, it's that great restraint I have coming into play.
So maybe it was the formula, maybe it was the start of Spring, maybe it was that Camille has not been sick for over 2 weeks, or maybe it was that so many of you have been praying for this specific thing for us. We know that is the most likely reason!
Even so, it wouldn't hurt to have a little bit of Irish luck. The Whitts will take all of the good luck that comes our way! And so, in typical Henry and Camille fashion...
Happy
Saint
Patrick's
Day!
And so what really caused this new change in luck? I'm going with Camille's new formula. Her new gastro had us switch her formula from Elecare to a regular ol' Similac. Wow, regular formula! That you can buy in a regular store! And not sell body parts in order to pay for it! And it apparently helps your baby sleep through the night! Greatness! Apparently, the gastro thought that the Elecare could have been "dumping" out of Camille's stomach too fast, causing pain and discomfort. He was hoping this change would help with irritability and sleep. So, we switched Camille to Similac, and the night that the transition was complete was the first night that she slept all night. Ten whole hours instead of her regular two. Again, greatness! I told our Gastro as much on Friday when we saw him again to follow-up on this new change. I gushed about how appreciative we were. I really wanted to tell him that he was a genius and then kiss his feet, but I held myself back. Again, it's that great restraint I have coming into play.
So maybe it was the formula, maybe it was the start of Spring, maybe it was that Camille has not been sick for over 2 weeks, or maybe it was that so many of you have been praying for this specific thing for us. We know that is the most likely reason!
Even so, it wouldn't hurt to have a little bit of Irish luck. The Whitts will take all of the good luck that comes our way! And so, in typical Henry and Camille fashion...
Happy
Saint
Patrick's
Day!
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