At the neurologist visit in early June, a number of blood tests were run. Some of the results are back (we are still waiting for results on some of the genetic tests). One test result was high. It was not as high as it would be if she had a degenerative muscle disease (think muscular dystrophy or ALS). That would be 10X or more from the normal value. So, the neurologist felt we should run the blood test again, to ensure that the level was indeed high. The second blood level came back today.
Unfortunately, it was the same level as before. This means there is a possibility that Claire has a congenital muscle disease and/or a muscle abnormality. This is not certain as it could be "nothing". Claire has obvious weakness and a developmental delay. However, she is progressing, not regressing so it is difficult to ascertain what the "best" course of action is in her case. After speaking with the neurologist at length, further tests are indicated. These will be for diagnostic purposes as of now. She does not plan to change treatment options (continuing extensive therapies) unless the tests find something very specific with a set treatment. She is honest that she really doesn't know what to expect. The only thing she is sure of is that Claire does not have a degenerative muscle disease and that she is currently progressing, not regressing, which is a good sign.
The other tests that will be run are not "easy" tests. The first will be her MRI next Friday, the 1st. She has to be put to sleep for that and cannot eat all day (until the test at 3pm). I am not looking forward to that at all.....The neurologist is not nearly as certain she will not find anything as she was prior to these test results.
Claire will also undergo a nerve conduction/EMG test on each of her extremities. I will not give the details here as some may not wish to know, but you can get the description on google should you so desire. I have had this test done on me twice, one very recently and it is quite uncomfortable and painful. The neurologist even warned us this will not be an "easy" test. It is a very hard decision to make, but we feel we need to make sure this isn't something we can treat or something serious we need to know now as opposed to later. We also hope she will have less memories of the "trauma" from the test if we do it now as opposed to later in life.
The neurologist also mentioned a muscle biopsy. It is my understanding this will happen if nothing is found on the MRI and nerve conduction/EMG test. It may happen if something is found; just depends on the results, I think. All in all, Claire is doing well. The doctors are very impressed with her cognitive skills as well as her receptive language. These tests are needed to ensure we know the proper way to treat Claire, and if she will continue to improve in regards to her swallowing or if this potential problem, means something different in that aspect. The muscle biopsy would be done by a surgeon, etc. We will cross that bridge if and when the time comes. :)
The nerve conduction/EMG should be in the next few weeks (say 2-3). Only one doctor reads them so it can be difficult to get an appointment. July 4th holiday is in there as well. :)
I will keep you updated as we learn more information.
Thursday, June 23, 2011
Saturday, June 11, 2011
Visit to the Neurologist
Well, Claire went to the neurologist on Tuesday. Another doctor in another speciality trying to weigh in on Claire's situation. As my pediatrician put it, "everyone wants to be the one to figure out Claire". If only it were that simple. As Dr. Richter her ENT put it, she is a complex case. Not only is her "primary" condition extremely unusual, she has another of other symptoms that cannot be explained by her swallowing dysfunction. So other doctors get the chance to weigh in. See if they will be the one to find the elusive diagnosis that will explain it all.
As most of you know, Claire has generalized hypotonia, which means the muscles of her entire body are weak. She also had a significant delay of speech. Another "concern" is that her cheeks are abnormally red/rosy (although her pediatrician is not concerned about that at this time). So those symptoms combined with her swallowing dysfunction resulted in a recommendation by the allergist and ENT to see a neurologist.
So, we went. She noted that Claire's left side is markedly weaker than her right (more than seen with just a preference for the right in a right-handed person). Her upper body is very much weaker than the lower half. This could be that her physical therapy has made a larger difference in the lower or that her upper body is more effected by whatever has caused her to be weak. Her speech is still delayed. She was been slow to reach developmental milestones. However, the neurologist does not feel she has a "syndrome" to explain all of this. She is just slower. As long as she is not regressing, the neurologist does not feel there is a reason to "worry". She also agrees Claire is cognitively intact, and her receptive language skills are very sharp.
So the neurologist decided to run a large number of blood tests to rule out a bunch of stuff (that I cannot remember). This is never fun as Claire is a "hard stick". The nurses spend "forever" to try to find a vein they can use. Unfortunately, we were there after the lab hours, which is not good as the people from the lab are the only ones who can draw Claire with any good results. So, the nurse finally tried and got nothing (after digging, which I HATE). So they called the lab who came and got it on the first try, but they didn't have ahold of her other arm well so she reached over and pulled out the needle. The nurses and the lab technicians were amazed with how well Claire handled the whole situation. I said, "This is what happens when you are in the medical system from 5 weeks of age on." The neurologist does not expect these to come back positive, but one never knows. It will take a couple of weeks to get the results so I will post when we know something.
The neurologist also wants an MRI of Claire's brain. This will require Claire to go under anesthesia. Yeah (sarcastically)! I think we are up to 9 or ten times now. :P Unfortunately, the scheduling office was closed when we got finished with the appointment so we don't know when it will be yet. The nurse did the pre-screening and was asking about anethesia, etc and when she heard how much we have been under she laughed and said "you could give this info.". I will let everyone know when we know more about when. Again, the doctor does not think we will find anything but did caution it is possible that there is something in the right side of her brain, which would effect the left side of her body. One can have a motor deficit without any intellectual (cognitive) deficit.
So we wait...for answers...that probably will not appear. We are just thankful Claire continues to improve. We will return for a swallow study and an ENT appointment in August. Then more decisions will be made.
Thanks for continuing on our journey with us! We couldn't do it without all of you!!
As most of you know, Claire has generalized hypotonia, which means the muscles of her entire body are weak. She also had a significant delay of speech. Another "concern" is that her cheeks are abnormally red/rosy (although her pediatrician is not concerned about that at this time). So those symptoms combined with her swallowing dysfunction resulted in a recommendation by the allergist and ENT to see a neurologist.
So, we went. She noted that Claire's left side is markedly weaker than her right (more than seen with just a preference for the right in a right-handed person). Her upper body is very much weaker than the lower half. This could be that her physical therapy has made a larger difference in the lower or that her upper body is more effected by whatever has caused her to be weak. Her speech is still delayed. She was been slow to reach developmental milestones. However, the neurologist does not feel she has a "syndrome" to explain all of this. She is just slower. As long as she is not regressing, the neurologist does not feel there is a reason to "worry". She also agrees Claire is cognitively intact, and her receptive language skills are very sharp.
So the neurologist decided to run a large number of blood tests to rule out a bunch of stuff (that I cannot remember). This is never fun as Claire is a "hard stick". The nurses spend "forever" to try to find a vein they can use. Unfortunately, we were there after the lab hours, which is not good as the people from the lab are the only ones who can draw Claire with any good results. So, the nurse finally tried and got nothing (after digging, which I HATE). So they called the lab who came and got it on the first try, but they didn't have ahold of her other arm well so she reached over and pulled out the needle. The nurses and the lab technicians were amazed with how well Claire handled the whole situation. I said, "This is what happens when you are in the medical system from 5 weeks of age on." The neurologist does not expect these to come back positive, but one never knows. It will take a couple of weeks to get the results so I will post when we know something.
The neurologist also wants an MRI of Claire's brain. This will require Claire to go under anesthesia. Yeah (sarcastically)! I think we are up to 9 or ten times now. :P Unfortunately, the scheduling office was closed when we got finished with the appointment so we don't know when it will be yet. The nurse did the pre-screening and was asking about anethesia, etc and when she heard how much we have been under she laughed and said "you could give this info.". I will let everyone know when we know more about when. Again, the doctor does not think we will find anything but did caution it is possible that there is something in the right side of her brain, which would effect the left side of her body. One can have a motor deficit without any intellectual (cognitive) deficit.
So we wait...for answers...that probably will not appear. We are just thankful Claire continues to improve. We will return for a swallow study and an ENT appointment in August. Then more decisions will be made.
Thanks for continuing on our journey with us! We couldn't do it without all of you!!
It's Gone!
Hi!
We did end up pulling Claire's tube a month ago (I know I am sooo behind, sorry!). There were no complications and it has healed. No stitches were needed-it closed completely on its own. She does have a rather large scar, but we are leaving it alone for now. The hope is it will get smaller as she grows. We may consider doing something about it later, but the pediatrician says now is not the time to even begin to think about that. She had the feeding tube for over two years so a scar like hers is to be expected.
So we continue to progress.....she is doing wonderfully, and we couldn't have asked for better progress. Just last week a lady from the church who watched her in September and then again last week said she is a completely different child! She could not believe how much progress Claire has made! Sometimes I think Jonathan and I forget since we see her everyday, but we hear that from so many people, especially those who do not see her on a regular basis.
We are thankful that she continues to do well and is such a happy child! Medical science is an amazing thing!!!
We did end up pulling Claire's tube a month ago (I know I am sooo behind, sorry!). There were no complications and it has healed. No stitches were needed-it closed completely on its own. She does have a rather large scar, but we are leaving it alone for now. The hope is it will get smaller as she grows. We may consider doing something about it later, but the pediatrician says now is not the time to even begin to think about that. She had the feeding tube for over two years so a scar like hers is to be expected.
So we continue to progress.....she is doing wonderfully, and we couldn't have asked for better progress. Just last week a lady from the church who watched her in September and then again last week said she is a completely different child! She could not believe how much progress Claire has made! Sometimes I think Jonathan and I forget since we see her everyday, but we hear that from so many people, especially those who do not see her on a regular basis.
We are thankful that she continues to do well and is such a happy child! Medical science is an amazing thing!!!
Tuesday, May 10, 2011
The Pulling of the Tube (most likely)
So, there have been some questions about what this means, why now, what happened, etc. So here goes with an explanation. I am going to try to keep it short and simple. It is late, and I need sleep. :) The three kids will be up early tomorrow I am sure.
When Claire's tube was placed at five months, I was told they hoped to be able to remove it by 12-18 months. It was thought her dysphagia was related to reflux/infancy (like they say Ryan's is although they are getting smarter and don't say it to me with as much certainty since I have the rare) :) We now know that Claire had a separate condition of cricopharyngeal achalasia, which most likely was the reason for the swallowing dysfunction. That being said, Claire has progressed over the last year to the point where she eats and drinks honey thickened liquids solely by her mouth. Her tube is only used for medications, not to feed or hydrate her in any way. It has not been used for those purposes for over 6-9 months and probably wasn't needed to feed her for over a year.
We had been told in the past to leave Claire's tube in until she was able to tolerate liquids (non-thickened) for a least a few months (some said six). A tube is nice to have with the stomach flu, when you have a sore throat, won't drink or after surgery/procedure. So we just kept it. No reason to pull it if it wasn't hurting anything or causing problems.
Well, there is the catch. Back when we were still in Cheyenne and seeing the doctors in Denver (about 15 months ago) and Claire was still using the tube for feeding and hydration, she was struggling with vomiting et al so they doctors felt a bigger tube was needed. That is common with the "fast" growth of children. So we got a bigger tube and all was better. Fast forward to six-eight weeks ago. Claire started complaining that her tube hurt. She was itching it. She played with it more. We started noticing some film and redness. So we brought her into the pediatrician about three weeks ago. She told us it could be a fungal infection, which could be treated with an antifuntal cream. She also brought up the idea of it being time to remove the tube. We decided to wait and see if the cream solved the problem. It didn't. So Claire now has more "scar tissue" growing. It is the type of tissue that when irritated grows more. What we think is happening is that the tube is "leaking" and that is irritating the skin and causing the symptoms. So we have a number of options:
While this is a HUGE step for Claire, a big decision and very exciting, I want to be sure everyone understands that this does not mean Claire is "cured". Again, her day to day life will be very much the same, just without a tube. She will still need thickened liquids. We will still have to watch her closely when she eats, etc. There is no time table for when she will not need thickened liquids, she will just be like the other kids who have thickened liquids for whatever reason. For more information on the plans for Claire in regards to therapy, thinner liquids, etc please see the notes before this one. Claire is one complex kid even for the specialists. Only time will tell what the future holds. For now, she is one happy, bright and increasingly "terrible" two year old kid.
When Claire's tube was placed at five months, I was told they hoped to be able to remove it by 12-18 months. It was thought her dysphagia was related to reflux/infancy (like they say Ryan's is although they are getting smarter and don't say it to me with as much certainty since I have the rare) :) We now know that Claire had a separate condition of cricopharyngeal achalasia, which most likely was the reason for the swallowing dysfunction. That being said, Claire has progressed over the last year to the point where she eats and drinks honey thickened liquids solely by her mouth. Her tube is only used for medications, not to feed or hydrate her in any way. It has not been used for those purposes for over 6-9 months and probably wasn't needed to feed her for over a year.
We had been told in the past to leave Claire's tube in until she was able to tolerate liquids (non-thickened) for a least a few months (some said six). A tube is nice to have with the stomach flu, when you have a sore throat, won't drink or after surgery/procedure. So we just kept it. No reason to pull it if it wasn't hurting anything or causing problems.
Well, there is the catch. Back when we were still in Cheyenne and seeing the doctors in Denver (about 15 months ago) and Claire was still using the tube for feeding and hydration, she was struggling with vomiting et al so they doctors felt a bigger tube was needed. That is common with the "fast" growth of children. So we got a bigger tube and all was better. Fast forward to six-eight weeks ago. Claire started complaining that her tube hurt. She was itching it. She played with it more. We started noticing some film and redness. So we brought her into the pediatrician about three weeks ago. She told us it could be a fungal infection, which could be treated with an antifuntal cream. She also brought up the idea of it being time to remove the tube. We decided to wait and see if the cream solved the problem. It didn't. So Claire now has more "scar tissue" growing. It is the type of tissue that when irritated grows more. What we think is happening is that the tube is "leaking" and that is irritating the skin and causing the symptoms. So we have a number of options:
- Take her to a surgeon at Arkansas Children's who will "burn" off the excess tissue and then put in a larger tube and hope this does not return.
- Put in a larger tube and leave the skin as is and hope it doesn't continue to bother her
- Pull the tube and let the "hole" heal and there will be nothing left to be irritated.
While this is a HUGE step for Claire, a big decision and very exciting, I want to be sure everyone understands that this does not mean Claire is "cured". Again, her day to day life will be very much the same, just without a tube. She will still need thickened liquids. We will still have to watch her closely when she eats, etc. There is no time table for when she will not need thickened liquids, she will just be like the other kids who have thickened liquids for whatever reason. For more information on the plans for Claire in regards to therapy, thinner liquids, etc please see the notes before this one. Claire is one complex kid even for the specialists. Only time will tell what the future holds. For now, she is one happy, bright and increasingly "terrible" two year old kid.
The ENT Doctor's Plan
Well, we saw the ENT for the first time in nearly four months at the end of March. As she had been having some congestion as well as numerous ear infections, he felt it was time for another scope and another set of ear tubes. This was done at the end of March. He then saw Claire again at the end of April.
The scope of her airway/swallowing pathway showed that the muscle remained dilated. This is a good sign, and we should not have to do surgery in the near future. He had asked us in March to do a trial of nectar thin liquids. Unfortunately, this did not go well for Claire. She ended up with a severe sinus infection within 24-36 hours of the thinner liquids. We returned her to the previous level of thickened liquids and this is where she remains as of now. The doctor has decided to give Claire a "break" as he feels he has pushed her very hard. He wants to give her body time to grow and "catch up" with all of the "stuff" he has done to it. He will then do another swallow study in August (hopefully she will cooperate a little more that before) and then meet with him. We will see where we go at that point.
Claire will also see a neurologist per his and the allergist's suggestion. Our pediatrician is not convinced this will be helpful nor will they find anything but after relentless urging she decided to send us. We will see them on June 7th. Who knows what that will bring. Claire is "complex" per the doctors, and we don't even see residents anymore. She is also a grey area, where there are many questions and very few answers. They could decide to do nothing in neurology, or they could decide more tests. We shall see. However, the doctor's do not expect to find any type of cognitive deficit, this would only be to find a reason for the hypotonia (weak muscles) throughout her body or potentially her swallowing difficulties. So we will be off to yet another doctor...... hope they are nice.....and not a long wait......and please, please, please have comfortable chairs. :)
The scope of her airway/swallowing pathway showed that the muscle remained dilated. This is a good sign, and we should not have to do surgery in the near future. He had asked us in March to do a trial of nectar thin liquids. Unfortunately, this did not go well for Claire. She ended up with a severe sinus infection within 24-36 hours of the thinner liquids. We returned her to the previous level of thickened liquids and this is where she remains as of now. The doctor has decided to give Claire a "break" as he feels he has pushed her very hard. He wants to give her body time to grow and "catch up" with all of the "stuff" he has done to it. He will then do another swallow study in August (hopefully she will cooperate a little more that before) and then meet with him. We will see where we go at that point.
Claire will also see a neurologist per his and the allergist's suggestion. Our pediatrician is not convinced this will be helpful nor will they find anything but after relentless urging she decided to send us. We will see them on June 7th. Who knows what that will bring. Claire is "complex" per the doctors, and we don't even see residents anymore. She is also a grey area, where there are many questions and very few answers. They could decide to do nothing in neurology, or they could decide more tests. We shall see. However, the doctor's do not expect to find any type of cognitive deficit, this would only be to find a reason for the hypotonia (weak muscles) throughout her body or potentially her swallowing difficulties. So we will be off to yet another doctor...... hope they are nice.....and not a long wait......and please, please, please have comfortable chairs. :)
Therapy Update
Claire is progressing well with her therapies. She was "re-evaluated" in occupational therapy in March, and it was found that she qualified for therapy to improve her fine motor skills. This means she will continue in OT until at least next March. She loves, loves, loves her OT (Ms. Paula) so I am excited about that. I am also excited as this helps with alot of activities that help her to be more independent (dressing, etc) as well as activities for school (using a crayon, scissors, etc).
Her speech has come a long way as well. She has met all of the goals made for her at her evaluation last August. Now they are working on some new goals, such as putting nouns and verbs together. Her speech therapist is not sure if she will qualify when she is evaluated again in August. At three, articulation is considering when evaluating for therapy and the therapist feels Claire will be lacking in that area. She still can be very difficult to understand. So we will see. For now, Claire will continue with speech therapy so she can get as much assistance for maximum improvement as possible.
Her physical therapy is progressing nicely. She now goes once a week for an hour. It is possible she will no longer need physical therapy after she is evaluated in August but that is not a given. As she will be three in August, what she needs to be able to do also changes and increases. Only time will tell.
All in all the therapists are very, very happy with her progress. She is a different child than the one who started back in August. She has grown so much, and we are very, very thankful for the wonderful therapists who work with her each and every week.
Her speech has come a long way as well. She has met all of the goals made for her at her evaluation last August. Now they are working on some new goals, such as putting nouns and verbs together. Her speech therapist is not sure if she will qualify when she is evaluated again in August. At three, articulation is considering when evaluating for therapy and the therapist feels Claire will be lacking in that area. She still can be very difficult to understand. So we will see. For now, Claire will continue with speech therapy so she can get as much assistance for maximum improvement as possible.
Her physical therapy is progressing nicely. She now goes once a week for an hour. It is possible she will no longer need physical therapy after she is evaluated in August but that is not a given. As she will be three in August, what she needs to be able to do also changes and increases. Only time will tell.
All in all the therapists are very, very happy with her progress. She is a different child than the one who started back in August. She has grown so much, and we are very, very thankful for the wonderful therapists who work with her each and every week.
Monday, March 7, 2011
And the Little Brother Is Not To Be Left Out....
In a development, Jonathan and I could have really done without, Ryan went into the hospital to try to determine the reason for his low weight gain along with his anorexia/not eating. What the doctors found is that Ryan needs thickened bottles. Like his sister before him, liquid consistency was going into his lungs. Both his pediatrician and I suspected this; however, it can take a long time to get the testing so a hospitalization was warranted to speed things along, if you will.
All other tests of his anatomy, etc came out fine. He has since gained another pound to bring his weight to a little over 10.5 pounds at age 3 months, 1 week. We are delighted to finally have some answers!!! He is sooo much happier and content. It is sometimes hard to believe it is the same child we had at a month who screamed nearly all the time.
This is thought to come along with his reflux so he is receiving medication for that as well. This seems to offer him some relief as well. We are thickening his bottles with rice cereal for now as he needs the extra calories to help with weight gain. He also takes higher calories formula so we can maximize his calories with each amount he takes in. He is still not a huge eater and we have to track how much he eats each day to ensure he receives enough liquid, but things are much brighter at the Durham house these days.
He does not seem to have any of the same conditions as his sister. His needing thickened bottles is relatively common (we know a couple of families ourselves who had to do this) and is often the result of severe reflux. He will undergo another swallow study around one year of age to see how he has progressed. Most children outgrow this by a year. We will see what happens at that time....until then we just keep thickening.........
All other tests of his anatomy, etc came out fine. He has since gained another pound to bring his weight to a little over 10.5 pounds at age 3 months, 1 week. We are delighted to finally have some answers!!! He is sooo much happier and content. It is sometimes hard to believe it is the same child we had at a month who screamed nearly all the time.
This is thought to come along with his reflux so he is receiving medication for that as well. This seems to offer him some relief as well. We are thickening his bottles with rice cereal for now as he needs the extra calories to help with weight gain. He also takes higher calories formula so we can maximize his calories with each amount he takes in. He is still not a huge eater and we have to track how much he eats each day to ensure he receives enough liquid, but things are much brighter at the Durham house these days.
He does not seem to have any of the same conditions as his sister. His needing thickened bottles is relatively common (we know a couple of families ourselves who had to do this) and is often the result of severe reflux. He will undergo another swallow study around one year of age to see how he has progressed. Most children outgrow this by a year. We will see what happens at that time....until then we just keep thickening.........
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