Celia Stuff.
Celia has not been doing great the last several days. I have a email in to her Dr. to see what we can do to help her, but she just can't seem to catch a break!
She is now waking for several hours at night. She loves to wrangle those g-tube cords, so we have to get up and stop her feed until (hopefully) she goes back to sleep.Sometimes she will go back to sleep, and sometimes she is up at 3-4 AM for good.
And then we have to re-start her pump in hopes to get as much of her 10 hour feeding into her, in LESS than 10 hours. Her tummy can only tolerate a certain amount of volume per hour during the day without causing her gastric issues, so we can only replace so much of the lost night feeding. It's a losing battle, really.
She is SPASTIC/ATAXIC(involuntary movements) in her arms and legs. Imagine clenching your arms and fists against your chest for hours and hours, or constantly moving/flailing/clenching your arms and legs. Exhausting and painful, right?
She has started doing this ALL. THE. TIME. It used to be, when she was on an hour long feed and watching a show, she could sit still. Now she can't. Add that to the lack of sleep at night and....
She is CRABBY. IRRITABLE. FUSSY. SOOO NOT our happy girl that we are used to. I don't blame her, but nothing we seem to do is helping her relax.
She is having trouble controlling her body temperature. It a LONG word called dysautonomia.
Here is the definition: It literally means the dysregulation of the autonomic nervous system. The autonomic nervous system is the master regulator of organ function throughout the body. It is involved in the control of heart rate, blood pressure, temperature control, respiration, digestion and other vital functions. Dysregulation of the autonomic nervous system can produce the apparent malfunction of the organ it regulates. For this reason, dysautonomia patients often presents with numerous, seemingly unrelated maladies.
So yeah, there is that.
And increasing speech apraxia as well. She used to say "Aria" clear as a bell. She now says, "AHHHH". It breaks my heart into pieces. We know this will also progress to the point that she is non-verbal. I can hardly deal with the thought of not hearing her sweet voice tell us what she wants.
She no longer loves her "go-go" in fact, we have to bribe her to get in to it. She used to spend a good part of the day in there and now??? She hates going in there and when we are able to coax her in for a few minutes, she is hot and sweating profusely after 5-10 minutes. And crying to get out.
And we aren't sure if we should push her to keep doing it, or give up.
If we give up, her only other options are sitting in her wheelchair, or laying on the floor.
Or being held.
Which she would vote for all day, every day.
And I would LOVE to do it all day, every day if I didn't have 3 other kids and a husband and a house that refuses to clean itself.
As I mentioned briefly in my last post, she is presenting way too severely for Mito Complex 1 (unless it is Leighs Disease, which we have ruled out) so we know we are missing something. I keep asking if she could possibly have CP without visible brain damage, but have been told that she has another mito-like disease that is contributing to her symptoms. What that is, or if we will ever get a name for it, is up for debate. They are learning more and more about these progressive diseases every day, so hopefully, we will get a get a clearer diagnosis. What we do know is, that we are seeing a world renown geneticist in this field, and even with that, I am considering a second opinion. It never hurts to have more than one specialist on the case.
It is so hard to see our little pumpkin struggle so, and not be able to alleviate her pain. Prayers are greatly appreciated for our sweet baby girl. None of these things are life-threatening at this point. Just makes for her to have really rough days/nights. We want her to be as comfortable as possible, and it's our job to help her get that way. Lack of sleep for hours each night can hinder our ability to think clearly.
Thanks for praying friends.
She is now waking for several hours at night. She loves to wrangle those g-tube cords, so we have to get up and stop her feed until (hopefully) she goes back to sleep.Sometimes she will go back to sleep, and sometimes she is up at 3-4 AM for good.
And then we have to re-start her pump in hopes to get as much of her 10 hour feeding into her, in LESS than 10 hours. Her tummy can only tolerate a certain amount of volume per hour during the day without causing her gastric issues, so we can only replace so much of the lost night feeding. It's a losing battle, really.
She is SPASTIC/ATAXIC(involuntary movements) in her arms and legs. Imagine clenching your arms and fists against your chest for hours and hours, or constantly moving/flailing/clenching your arms and legs. Exhausting and painful, right?
She has started doing this ALL. THE. TIME. It used to be, when she was on an hour long feed and watching a show, she could sit still. Now she can't. Add that to the lack of sleep at night and....
She is CRABBY. IRRITABLE. FUSSY. SOOO NOT our happy girl that we are used to. I don't blame her, but nothing we seem to do is helping her relax.
She is having trouble controlling her body temperature. It a LONG word called dysautonomia.
Here is the definition: It literally means the dysregulation of the autonomic nervous system. The autonomic nervous system is the master regulator of organ function throughout the body. It is involved in the control of heart rate, blood pressure, temperature control, respiration, digestion and other vital functions. Dysregulation of the autonomic nervous system can produce the apparent malfunction of the organ it regulates. For this reason, dysautonomia patients often presents with numerous, seemingly unrelated maladies.
So yeah, there is that.
And increasing speech apraxia as well. She used to say "Aria" clear as a bell. She now says, "AHHHH". It breaks my heart into pieces. We know this will also progress to the point that she is non-verbal. I can hardly deal with the thought of not hearing her sweet voice tell us what she wants.
She no longer loves her "go-go" in fact, we have to bribe her to get in to it. She used to spend a good part of the day in there and now??? She hates going in there and when we are able to coax her in for a few minutes, she is hot and sweating profusely after 5-10 minutes. And crying to get out.
And we aren't sure if we should push her to keep doing it, or give up.
If we give up, her only other options are sitting in her wheelchair, or laying on the floor.
Or being held.
Which she would vote for all day, every day.
And I would LOVE to do it all day, every day if I didn't have 3 other kids and a husband and a house that refuses to clean itself.
As I mentioned briefly in my last post, she is presenting way too severely for Mito Complex 1 (unless it is Leighs Disease, which we have ruled out) so we know we are missing something. I keep asking if she could possibly have CP without visible brain damage, but have been told that she has another mito-like disease that is contributing to her symptoms. What that is, or if we will ever get a name for it, is up for debate. They are learning more and more about these progressive diseases every day, so hopefully, we will get a get a clearer diagnosis. What we do know is, that we are seeing a world renown geneticist in this field, and even with that, I am considering a second opinion. It never hurts to have more than one specialist on the case.
It is so hard to see our little pumpkin struggle so, and not be able to alleviate her pain. Prayers are greatly appreciated for our sweet baby girl. None of these things are life-threatening at this point. Just makes for her to have really rough days/nights. We want her to be as comfortable as possible, and it's our job to help her get that way. Lack of sleep for hours each night can hinder our ability to think clearly.
Thanks for praying friends.
You know I am praying. YOu know I love all of you so much. But don't hesitate to ask if I can be of more tangible help.
ReplyDeleteWe are praying!
ReplyDeleteI am so very sorry to hear this. Praying.
ReplyDeleteCristy and family, I am so sorry that Celia is struggling so much right and as she struggles, you and your family struggle. I will pray for all of you to ease the struggles and challenges that you are having. Hugs
ReplyDeleteMy heart is so sad for her and you tonight. Im so sorry but you are definitely in our Prayers.
ReplyDeleteLee Ann
I'm sorry to hear how hard things are going right now for all of you. Poor little Celia must be so frustrated!
ReplyDeleteI definitely support your decision to seek out a second opinion. I'd also see what treatments may work per symptom. For example, will botox help relax her muscles? What sort of clothing can she wear to help control how wildly she can move. Yes, she will still flail, but if she's in a mesh cocoon, she can only fling herself so far. As she heats up in her go-go, would she like a fan blowing on her?
Could she have a different metabolic disease altogether. If you haven't seen the movie Lorenzo's Oil, please get it right away. I suggest it because it might give you ideas on how to find the right people to help you find the answers you seek.
Every time I read your blog, I have the most overwhelming feeling that what Celia has is something treatable, and simple, but so far outside the box that it can't be diagnosed merely because no one is looking in that direction.
If you have family and friends to help, perhaps you can put all of Celia's symptoms, one by one, and then in different combinations into a search engine and see what comes up, follow every trail, and see where it leads. Be very methodical, like when you have a long word and play the game of how many other words you can make using letters from that word. I am just so overwhelmed with the feeling that someone, somewhere has written something that would be useful.
We know it is difficult for you and know that it is only by God's grace you are coping. We wish we had answers for you but we don't (at least not yet!), but we continue to pray for those answers, all the while claiming such promises as "Call upon me and I will how you great and mighty things which you do not know." We like what was said in the last line of K's post and can pray for that as well. Rest assured of our continued love, prayers and any thing else we can do to help.
ReplyDeleteWhat can we do but pray, cry and pray some more. I hate what this disease is doing to our baby girl. We feel so overwhelmed, I don't even pretend to know how you are coping. Just know that we are in constant prayer.
ReplyDeleteSo sorry for the pain that Celia and u as her mom, are going through. I wanted to mention to you that there are amazing communication devices now that enable people who are completely immobile to communicate through EYE GAZE!!!! Amazing, huh? In my state, the eval for this type of communication system and the system itself would be free via Medicaid.
ReplyDeleteJust letting you know that you are on my mind and in my heart and prayers!
ReplyDelete