Warning: This is a TMI post.
Turn away now if discussions of bodily functions make you a bit squeamish, or you just don't want to know. ;-)
I am currently recovering from the Stomach Flu. It set in early evening on Sunday and by Sunday night, I was full on Puking up my Guts. Not a casual "oh my, I think I may vomit" sort of way, but a deep, wrenching - "god just take me now" can't stop the dry heaves sort of way.
After 14 hours of that, I can guarantee that there was NOTHING in my stomach or above...
After that, we proceeded to a goodly bit of messy diarrhea. It was NOT the worst that I have had , but it was a solid 3 hours of emptying of the intestines.
And yet, as things settled down, and I managed to keep down some ice chips and 6 saltines, I had yet another Bowel Movement. Of Normal Size.
Now where the frack did that come from?? Side effect of stretchy collagen ( which means stretchy GI track) Apparently I AM actually full of shit on a regular basis, without even knowing....
Tuesday, July 12, 2011
Sunday, June 19, 2011
You are not Sick.
** It is important if you have any collagen defect that you have an echo and /or an ultra sound to make sure that your heart and blood vessels are not dangerously impacted. Talk with your doctor about this and follow the safety limits they give you **
Our medical system is a well tuned machine for getting sick people healthy again. If the illness is caused by outside agents ( bacteria, viruses, etc..), the medical system is at its best. If the illness is caused by lifestyle choices ( smoking,jumping from planes without parachutes, etc..) it is pretty well geared. Doctors are trained and mentally programmed to make people well and healthy. What happens if you are not sick?
I have EDS type 3, hypermobile. It is a genetic disorder of my collagen. I am not sick. My husband likes to say that I am broken. Some days,it really feels like it. A lot of days, it does not. What it means is that my collagen gives me different limits and life parameters than other people. Like all Collagen disorders ( EDS, Marfans, and many others) it manifests as a spectrum. My daughters both have EDS as well. One of them has Hypermobile thumbs, but not fingers. The other has Hypermobile fingers but not thumbs. You have to listen hard to your own body and understand what it is telling you. But the chances are that if you have any kind of collagen disorder, you also have dysautonomia. Again, this may have many causes and many effects. Your symptoms may not be the same as mine. But I can guarantee you one thing, the most common advice you will get from other people is the worst for you.
Here is a scenario you are familiar with. You are having a "bad" day. For me, this means that when I move fast, I am light headed, that my heart races and I get chest pressure. My vision gets blurry to double, and concentration is sometimes just impossible. For you, it might mean you can not get to standing without passing out. I am not minimizing the impact this has on your life. Now, you look a little off, or you are behaving a little off and the people close to you ask how you are. "is anything wrong?" "are you ok?". If you are honest and tell them you are having a bad day and feel really crappy, they will reply " well, get some rest and feel better".
You may have even had doctors tell you this. Feel bad? Rest, let it pass and then try again the next day. if you had the flu, or had eaten some bad chicken burritos the night before, this would be excellent advice. When you are sick, you need to rest to give your immune system more energy to fight off the intruders.
But. YOU ( and I) are NOT sick.
Rest is your enemy.
Can't get out of bed? Do what you can. Do leg lifts, have someone bring you soup cans and lay there lifting cans. WORK your muscles. Exercise, movement, activity is your friend, even when you think it is killing you.
Exercise intolerance is a symptom of dysautonomia. Exercise every day until you reach your personal limit,then stop. Do it again the next day. And the next. Eventually, your limits will slowly increase. You might never be "average" or running a marathon, but you will be more functional.
Malaise, fatigue and depression are all end results of dysautonomia. First step is to work with your doctor to treat it in ways that make sense. Second step? Change your attitude. Yep, you will be tired. Keep moving anyway. Yes, laying down on the couch and watching XFiles reruns is going to sound so appealing. A 3 hour nap in the middle of the day will scream your name. it might feel like you are so exhausted that if you get up and do those dishes you will just fall on your face. Taking a walk with your best friend or family members might make you feel like you ran the boston marathon. Don't give in. Keep moving. Get stronger in any way you can.
Seriously. Push through. So WHAT if you are tired, push harder. Having dysautonomia does not mean you can not do things. It means that doing them will sometimes be harder. At first, almost everything will be impossible. Especially if you have been resting to heal for a long time. Doing 2 situps will make you cry. Go ahead. Cry. But do the situps. After a bit of time, you will be able to do 5 then 25 then 50. Blood flow is a combination of the pressure of the veins and arteries pushing back against the blood and muscles pushing on them. When your blood vessels have weak or stretchy collagen,you better have really strong muscles to compensate. Unfortunately, collagen disorders make it harder to maintain muscle tone, so you have to do this every day.
This is not a prescription that you can do a 10 day course of, feel better and stop. This will be a lifestyle change. Dr. Lavallee ( EDS expert) recently told me " I have to eat every day, I have to drink water every day, I have to shit every day and I have to exercise every day". He told me the only day off I should allow myself is in the hospital for surgery or when I have a fever. It is a hard pill to swallow. I am not perfect about it, especially on my really really good days. But exercising more has meant that I have more and more of those really good days.
People try hard to be kind, we fight to be recognized as having an "invisible illness", and have them understand our limits. When someone offers to carry something for you, or to push, pull or move for you, tell them Thank You, but NO. Sorry, you do NOT have an invisible illness- you have a genetic defect that means that you have to push your body harder, not accept more assistance. Now, you might not be able to carry the bag to the car and still lift it up and get it in the trunk. Tell the offerer of help that you are going to carry it, but might need help loading. Carry it. Then TRY to load it in before handing it to someone else to load. Just the act of trying is working your muscles as much as you can. A few weeks of trying and you might hit a day when you can load one, but not the others. Then you might be able to load half the cart of groceries without help. Depending on your condition, even the whole basket ;-)
I can not tell you how strong you can get, but I can guarantee that unless you are already doing strength training exercises every day, you will improve. You will hurt. You will get tired. You will cry. Do it anyway.
Our medical system is a well tuned machine for getting sick people healthy again. If the illness is caused by outside agents ( bacteria, viruses, etc..), the medical system is at its best. If the illness is caused by lifestyle choices ( smoking,jumping from planes without parachutes, etc..) it is pretty well geared. Doctors are trained and mentally programmed to make people well and healthy. What happens if you are not sick?
I have EDS type 3, hypermobile. It is a genetic disorder of my collagen. I am not sick. My husband likes to say that I am broken. Some days,it really feels like it. A lot of days, it does not. What it means is that my collagen gives me different limits and life parameters than other people. Like all Collagen disorders ( EDS, Marfans, and many others) it manifests as a spectrum. My daughters both have EDS as well. One of them has Hypermobile thumbs, but not fingers. The other has Hypermobile fingers but not thumbs. You have to listen hard to your own body and understand what it is telling you. But the chances are that if you have any kind of collagen disorder, you also have dysautonomia. Again, this may have many causes and many effects. Your symptoms may not be the same as mine. But I can guarantee you one thing, the most common advice you will get from other people is the worst for you.
Here is a scenario you are familiar with. You are having a "bad" day. For me, this means that when I move fast, I am light headed, that my heart races and I get chest pressure. My vision gets blurry to double, and concentration is sometimes just impossible. For you, it might mean you can not get to standing without passing out. I am not minimizing the impact this has on your life. Now, you look a little off, or you are behaving a little off and the people close to you ask how you are. "is anything wrong?" "are you ok?". If you are honest and tell them you are having a bad day and feel really crappy, they will reply " well, get some rest and feel better".
You may have even had doctors tell you this. Feel bad? Rest, let it pass and then try again the next day. if you had the flu, or had eaten some bad chicken burritos the night before, this would be excellent advice. When you are sick, you need to rest to give your immune system more energy to fight off the intruders.
But. YOU ( and I) are NOT sick.
Rest is your enemy.
Can't get out of bed? Do what you can. Do leg lifts, have someone bring you soup cans and lay there lifting cans. WORK your muscles. Exercise, movement, activity is your friend, even when you think it is killing you.
Exercise intolerance is a symptom of dysautonomia. Exercise every day until you reach your personal limit,then stop. Do it again the next day. And the next. Eventually, your limits will slowly increase. You might never be "average" or running a marathon, but you will be more functional.
Malaise, fatigue and depression are all end results of dysautonomia. First step is to work with your doctor to treat it in ways that make sense. Second step? Change your attitude. Yep, you will be tired. Keep moving anyway. Yes, laying down on the couch and watching XFiles reruns is going to sound so appealing. A 3 hour nap in the middle of the day will scream your name. it might feel like you are so exhausted that if you get up and do those dishes you will just fall on your face. Taking a walk with your best friend or family members might make you feel like you ran the boston marathon. Don't give in. Keep moving. Get stronger in any way you can.
Seriously. Push through. So WHAT if you are tired, push harder. Having dysautonomia does not mean you can not do things. It means that doing them will sometimes be harder. At first, almost everything will be impossible. Especially if you have been resting to heal for a long time. Doing 2 situps will make you cry. Go ahead. Cry. But do the situps. After a bit of time, you will be able to do 5 then 25 then 50. Blood flow is a combination of the pressure of the veins and arteries pushing back against the blood and muscles pushing on them. When your blood vessels have weak or stretchy collagen,you better have really strong muscles to compensate. Unfortunately, collagen disorders make it harder to maintain muscle tone, so you have to do this every day.
This is not a prescription that you can do a 10 day course of, feel better and stop. This will be a lifestyle change. Dr. Lavallee ( EDS expert) recently told me " I have to eat every day, I have to drink water every day, I have to shit every day and I have to exercise every day". He told me the only day off I should allow myself is in the hospital for surgery or when I have a fever. It is a hard pill to swallow. I am not perfect about it, especially on my really really good days. But exercising more has meant that I have more and more of those really good days.
People try hard to be kind, we fight to be recognized as having an "invisible illness", and have them understand our limits. When someone offers to carry something for you, or to push, pull or move for you, tell them Thank You, but NO. Sorry, you do NOT have an invisible illness- you have a genetic defect that means that you have to push your body harder, not accept more assistance. Now, you might not be able to carry the bag to the car and still lift it up and get it in the trunk. Tell the offerer of help that you are going to carry it, but might need help loading. Carry it. Then TRY to load it in before handing it to someone else to load. Just the act of trying is working your muscles as much as you can. A few weeks of trying and you might hit a day when you can load one, but not the others. Then you might be able to load half the cart of groceries without help. Depending on your condition, even the whole basket ;-)
I can not tell you how strong you can get, but I can guarantee that unless you are already doing strength training exercises every day, you will improve. You will hurt. You will get tired. You will cry. Do it anyway.
Tuesday, June 7, 2011
All in the Family
Last Thursday I took both of my daughters up to see Dr. Bader at the NE Indiana Genetics Center. Sure enough, as I expected, they were both diagnosed EDS. They only had Bieten scores of 7. One of them has thumb hyper and not finger, the other has finger, but not thumb. Isn't it odd how all of this sorts itself out in different bodies?
We sent off their blood for testing to see if they have the same genetic blip that I do.. but my biggest hope is that by being diagnosed while still in their late teens, they can make smarter choices and avoid some of the complications/challenges that have beset me in the last year.
We expect to get the blood test results back from my parents within a week ( they sent theirs in several weeks ago), but it will be July before we get the results back on the girls.
On a more positive note, this Thursday is my first trip up to see Dr Lavallee. While I am dreading the long early drive( especially since it looks like I may be making it alone), I am very excited about getting some more insights and some more treatment/prevention tips and tricks.
We sent off their blood for testing to see if they have the same genetic blip that I do.. but my biggest hope is that by being diagnosed while still in their late teens, they can make smarter choices and avoid some of the complications/challenges that have beset me in the last year.
We expect to get the blood test results back from my parents within a week ( they sent theirs in several weeks ago), but it will be July before we get the results back on the girls.
On a more positive note, this Thursday is my first trip up to see Dr Lavallee. While I am dreading the long early drive( especially since it looks like I may be making it alone), I am very excited about getting some more insights and some more treatment/prevention tips and tricks.
Wednesday, May 4, 2011
I am a backward walking Superstar
I had my first real day of Physical Therapy yesterday. ( my evaluation was the week before). I think I am going to love this.
We are starting with pool-based therapy, as my left ankle tendinitis is pretty bad and they want to get some weight off the leg while we get better joint stability.
The person who will be my regular therapist was out sick, but my substitute was good. I am the first EDS client they have had, but both of the therapists had heard about it, had done some reading up and were willing to listen and learn. This therapist was especially patient and did not make fun as I asked lots of questions and needed extra feedback about body position ( who knew "shoulder-width apart" was only about 6 inches, not 18??
Pool Therapy to start is a treadmill built into the bottom of a warm pool. There is a video camera by my legs, with a monitor at eye level, so you can walk in the pool and both you and the Therapist can see what your lower half is doing.
Turns out my gait is a mess, and I walk backwards. Even when going forward.
A good gait has you dorsiflex ( lift from the toe) your foot, extend your leg with your knee slightly bent and land heel first, with the weight then rolling through your foot to your toes. The impetus for this action actually comes from the push of the back leg that is rolling off the toes from its step. This video shows it much better than I could describe.
My gait? I was walking by extending my foot forward, landing on my toe, rolling through the heel and pulling my body forward. I was also twisting my trunk too much side to side, using my trunk muscles to help move me forward and bypassing my hip stabilizing muscles.
The closest I can come to a video to show this is this video of shod horses walking. Apparently it is common for a shod horse to have the same gait problem and land toe first, injuring themselves.
Who knew?
The one piece of good news is that toe first is the correct way to walk when stepping backwards and I am a backward walking superstar ;-)
The theory is that this developed as a coping mechanism for unstable foot/ankle/knee/hip joints at some point and was probably aggravated when I spent a couple of years off and on crutches in middle school/early high school.
This is the biggest reason that I am a trip hazard. Apparently, if I can fix this, I will not only injure tendons less, but will be less of a klutz. Even stepping sideways, I found myself stepping out and pulling myself to the extended leg. I could feel my ankle joint rolling and aching. When I consciously corrected this and pushed off, I landed the extended foot solidly and no ankle rolling.
Walking the "right" way? Feels incredibly ODD. Actually, it feels like I am going to fall on my face...but apparently that is a normal sensation, and triggers the brain to walk and step forward-- and most people got over this sensation at about 12 months and now their brain does not even register it.
Besides just thinking about it, normally you would do calf stretches to stretch out the Achilles. However, that normal stretch motion just shifts my feet and ankles around and does not touch my Achilles much. That may be a challenge I have to take to Dr. Lavallee in June and see if he has a better answer.
We are starting with pool-based therapy, as my left ankle tendinitis is pretty bad and they want to get some weight off the leg while we get better joint stability.
The person who will be my regular therapist was out sick, but my substitute was good. I am the first EDS client they have had, but both of the therapists had heard about it, had done some reading up and were willing to listen and learn. This therapist was especially patient and did not make fun as I asked lots of questions and needed extra feedback about body position ( who knew "shoulder-width apart" was only about 6 inches, not 18??
Pool Therapy to start is a treadmill built into the bottom of a warm pool. There is a video camera by my legs, with a monitor at eye level, so you can walk in the pool and both you and the Therapist can see what your lower half is doing.
Turns out my gait is a mess, and I walk backwards. Even when going forward.
A good gait has you dorsiflex ( lift from the toe) your foot, extend your leg with your knee slightly bent and land heel first, with the weight then rolling through your foot to your toes. The impetus for this action actually comes from the push of the back leg that is rolling off the toes from its step. This video shows it much better than I could describe.
My gait? I was walking by extending my foot forward, landing on my toe, rolling through the heel and pulling my body forward. I was also twisting my trunk too much side to side, using my trunk muscles to help move me forward and bypassing my hip stabilizing muscles.
The closest I can come to a video to show this is this video of shod horses walking. Apparently it is common for a shod horse to have the same gait problem and land toe first, injuring themselves.
Who knew?
The one piece of good news is that toe first is the correct way to walk when stepping backwards and I am a backward walking superstar ;-)
The theory is that this developed as a coping mechanism for unstable foot/ankle/knee/hip joints at some point and was probably aggravated when I spent a couple of years off and on crutches in middle school/early high school.
This is the biggest reason that I am a trip hazard. Apparently, if I can fix this, I will not only injure tendons less, but will be less of a klutz. Even stepping sideways, I found myself stepping out and pulling myself to the extended leg. I could feel my ankle joint rolling and aching. When I consciously corrected this and pushed off, I landed the extended foot solidly and no ankle rolling.
Walking the "right" way? Feels incredibly ODD. Actually, it feels like I am going to fall on my face...but apparently that is a normal sensation, and triggers the brain to walk and step forward-- and most people got over this sensation at about 12 months and now their brain does not even register it.
Besides just thinking about it, normally you would do calf stretches to stretch out the Achilles. However, that normal stretch motion just shifts my feet and ankles around and does not touch my Achilles much. That may be a challenge I have to take to Dr. Lavallee in June and see if he has a better answer.
Monday, May 2, 2011
I may have EDS, but I have a life, too...
I know this blog is supposed to be my "EDS Blog" , but the truth is while EDS impacts all facets of my life, I still have a life. if you read just this blog, you might think. Wow.. what a horrible struggle. But the truth is, I am finding ways to gracefully bend and work around them and still get projects done.
Because I was dealing with so many medical issues last fall ( before we understood what this is and how to work with it), my gardens got seriously neglected. No last fall cleanup, no trimming of the perennials, just a mess this spring. I lost a few plants, but most everything survived.
I have a favorite shaded garden at the end of my clothesline. This is what it looked like before the clean up:
Because I was dealing with so many medical issues last fall ( before we understood what this is and how to work with it), my gardens got seriously neglected. No last fall cleanup, no trimming of the perennials, just a mess this spring. I lost a few plants, but most everything survived.
I have a favorite shaded garden at the end of my clothesline. This is what it looked like before the clean up:
Kind of a scary mess, eh?
Now here is what it looks like AFTER the cleanup.
 |
| long view( lots of daylillies to the left) |
 |
| I uncovered the hastas, coneflower , coreopsis and daisy starts that were buried. The ostrich ferns in the back, I transplanted from a too sunny spot. |
 |
| newly planted cinnamon fern |
 | ||
| First Trillium Leaf uncovered Was this just as fast and easy as it would have been even 3 years ago? Not at all. But I have figured out the work arounds for several reasons.
So how am I managing it?
I hope this gives you a better view of me as a whole person, and not just my battles/strategies with EDS. If you want to see more of my garden projects, you can check out my normal Geek/Gardening blog. If you just want to page through some other pictures of garden/yard projects, you can page through the Picasa album.:
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Friday, April 29, 2011
New Rheumy
New doctors are always a tense encounter, even if there are no medical complications in your life.
I was both excited and nervous when my Rheumatologist appointment finally came around ( had to wait almost 2 months from when I called for an appointment). I know that this will be the primary doctor I work with for pain management and staying as active and strong as possible. In my mind, I wanted her to be well informed, have things to teach me, as well as listening to my point of view, research and experiences thus far.
I think it will work out well. She was informed about EDS, and told me one or two things I did not know. She taught me that my right hip popping and clicking( which it has done since my teen years) may not be a tendon problem, but might be joint deformation or damage. We are getting an XRay as a baseline, so we can track any changes and better anticipate a course. She did a thorough joint exam and confirmed that the joints where I currently have the worst pain were cases of tendinitis, and that I should treat any new points as we move forward as if it were tendinitis, and not just a general ache to ensure faster recovery. Some of it is in joints that have been active for so long that I did not realize it was an issue- I had just adapted to it. It was good to have it pointed out . I say once again- thank $Diety for refreezable cold packs ;-0
She was a little too fast to offer meds and I had to push harder than I liked for alternative treatments. It was good not to have to argue when I asked for two different doses of Naproxen ( wanted a lower one for good days), but kind of scary how fast she was writing a script for more serious pain killers. I got it filled, and hopefully it will be a bottle that just sits in the cupboard unused for a long time. Once I pushed for things to try to try to improve, she wrote a script for PT as well. [side note: I have had my PT eval and have my first session in the pool next week. I will write more on PT after that- but the eval session has me very excited] Time will tell, and hopefully we will get on the same wavelength quickly.
I was very encouraged by the fact that she was excited to have me see an EDS expert in June, and that she purposefully made our next appointment for AFTER that point in time, so she could learn what he thought and take that into consideration for my treatment plan. Hopefully his words will help shake her out of a "you know we can not cure this" mentality and up into my thought path of "can't be cured, but impact can be alleviated".
All in all, it is nice to have a new rheumy, and I think we might get along OK.
I was both excited and nervous when my Rheumatologist appointment finally came around ( had to wait almost 2 months from when I called for an appointment). I know that this will be the primary doctor I work with for pain management and staying as active and strong as possible. In my mind, I wanted her to be well informed, have things to teach me, as well as listening to my point of view, research and experiences thus far.
I think it will work out well. She was informed about EDS, and told me one or two things I did not know. She taught me that my right hip popping and clicking( which it has done since my teen years) may not be a tendon problem, but might be joint deformation or damage. We are getting an XRay as a baseline, so we can track any changes and better anticipate a course. She did a thorough joint exam and confirmed that the joints where I currently have the worst pain were cases of tendinitis, and that I should treat any new points as we move forward as if it were tendinitis, and not just a general ache to ensure faster recovery. Some of it is in joints that have been active for so long that I did not realize it was an issue- I had just adapted to it. It was good to have it pointed out . I say once again- thank $Diety for refreezable cold packs ;-0
She was a little too fast to offer meds and I had to push harder than I liked for alternative treatments. It was good not to have to argue when I asked for two different doses of Naproxen ( wanted a lower one for good days), but kind of scary how fast she was writing a script for more serious pain killers. I got it filled, and hopefully it will be a bottle that just sits in the cupboard unused for a long time. Once I pushed for things to try to try to improve, she wrote a script for PT as well. [side note: I have had my PT eval and have my first session in the pool next week. I will write more on PT after that- but the eval session has me very excited] Time will tell, and hopefully we will get on the same wavelength quickly.
I was very encouraged by the fact that she was excited to have me see an EDS expert in June, and that she purposefully made our next appointment for AFTER that point in time, so she could learn what he thought and take that into consideration for my treatment plan. Hopefully his words will help shake her out of a "you know we can not cure this" mentality and up into my thought path of "can't be cured, but impact can be alleviated".
All in all, it is nice to have a new rheumy, and I think we might get along OK.
Friday, April 15, 2011
I am a documented mutant !!
I got a call from the NorthEast Indiana Genetics Clinic this morning, they had results of my genetic testing for Ehlers Danlos ( classical type) back from the testing lab.
I am a certified mutant of ColType V ( although in my excitement, I forgot to ask if it was ColVa or ColVb- they are mailing the report to me, so I will find out soon enough). The coolest part ( ???) is that this is a relatively new mutation. They said the testing lab said they had seen it in one other case, but with no details).
The mutation is in the 3rd exon, with a point mutation that changes an alanine to a valine. Sounds small, right? How could that be significant?
Here is an Alanine molecule:
And here is a Valine molecule:
Note that extra branch on the Valine molecule.
Protein Structure is highly dependent on the interactions ( physical and molecular) between the amino acids that make it up. In a molecule like collagen, which is highly dependent on large numbers of proteins correctly lining up and inter-twining to provide correct strength and function, you can see why having an extra piece of a molecule poking out would disrupt the normal strength and function.
In addition to physical problems, a Valine is almost 3 times more hydrophobic than an alanine, which would disrupt the series of hydrogen bonds which normally hold these molecules in their folded shapes and together with each other.
Alanine is by definition an amino acid that is conducive to alpha helix formation, and valine is notoriously a bad alpha helix maker. Other problems with protein folding have been seen with single alanine to valine mutations.
Single point mutations in other genes which result in a change of alanine to valine are found as problems in other syndromes or genetic disorders as well. Things like inherited neuropathy, Dyskinesia,and even an inherited prion disease. I am sure there are others my quick search did not turn up.
Since we now have an easy marker to look for, we will be getting both of the girls tested as well. Their appointment is set for early June, which means no results until July or so.
I am a certified mutant of ColType V ( although in my excitement, I forgot to ask if it was ColVa or ColVb- they are mailing the report to me, so I will find out soon enough). The coolest part ( ???) is that this is a relatively new mutation. They said the testing lab said they had seen it in one other case, but with no details).
The mutation is in the 3rd exon, with a point mutation that changes an alanine to a valine. Sounds small, right? How could that be significant?
Here is an Alanine molecule:
And here is a Valine molecule:
Note that extra branch on the Valine molecule.
Protein Structure is highly dependent on the interactions ( physical and molecular) between the amino acids that make it up. In a molecule like collagen, which is highly dependent on large numbers of proteins correctly lining up and inter-twining to provide correct strength and function, you can see why having an extra piece of a molecule poking out would disrupt the normal strength and function.
In addition to physical problems, a Valine is almost 3 times more hydrophobic than an alanine, which would disrupt the series of hydrogen bonds which normally hold these molecules in their folded shapes and together with each other.
Alanine is by definition an amino acid that is conducive to alpha helix formation, and valine is notoriously a bad alpha helix maker. Other problems with protein folding have been seen with single alanine to valine mutations.
Single point mutations in other genes which result in a change of alanine to valine are found as problems in other syndromes or genetic disorders as well. Things like inherited neuropathy, Dyskinesia,and even an inherited prion disease. I am sure there are others my quick search did not turn up.
Since we now have an easy marker to look for, we will be getting both of the girls tested as well. Their appointment is set for early June, which means no results until July or so.
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