My son is doing great and just turned 14 and started high school! I do often worry that I am missing something--some therapy he should have, some specialist he should see, some test he should have. It took me almost a year to convince the doctors to have him get a scan of the arteries in his legs. His old orthopedic surgeon mentioned to me that my son is missing some of the arteries in his legs, and no one ever further looked into it. I thought it was important to finally find out more about it because he was going to have surgery on his foot. Then he broke his femur, which is a whole other story, and the foot surgery was postponed.
So in the meantime, he has had the scan, but I haven't been able to find a vascular surgeon who will see him. His orthopedic surgeon did give a disc of his scan to HER vascular surgeon, who said she would see him, but I'm having a hard time making an appointment with her! I have called many times, and they never get back to me! It turns out that there are no pediatric vascular surgeons; it's just not a specialty at all. And it's hard to get a doctor who sees adults to see a child! Well, my son was 13 when I started calling them. Now he's 14, so hopefully he's getting closer to an age when they will accept him as a patient!
Showing posts with label lumbosacral agenesis. Show all posts
Showing posts with label lumbosacral agenesis. Show all posts
Tuesday, September 11, 2018
Update
It has been years since I've posted, and in the meantime, we have made a lot of progress with iSACRA. We now have more than 1000 members on our Facebook page and have a lot of great discussions there. I am happy to say that I think we are really helping people. I know how hard it was having a newborn with this syndrome I had no clue about, and I hope that we are easing some new parents' fears through our group.
We have had a few meet-ups as well, are now recognized by NORD (National Organization for Rare Diseases), have started paying for postage when members exchange medical equipment and supplies, have created a flyer describing caudal regression syndrome and iSACRA, and much more! It has really been a dream come true for me. When my son was born, I wished there was such an organization as I have now helped to create!
We have had a few meet-ups as well, are now recognized by NORD (National Organization for Rare Diseases), have started paying for postage when members exchange medical equipment and supplies, have created a flyer describing caudal regression syndrome and iSACRA, and much more! It has really been a dream come true for me. When my son was born, I wished there was such an organization as I have now helped to create!
Saturday, May 9, 2015
Introducing the International Sacral Agenesis Caudal Regression Association
I haven't blogged in quite a while, but in the meantime, the International Sacral Agenesis Caudal Regression Association (iSACRA) has been founded. I'm proud to say that I am a founding board member of iSACRA and helped get it started along with several wonderful, very dedicated people.
On June 6, we will be celebrating our second anniversary. Our Facebook group now has almost 650 members! And next week we are having our first really big fundraiser, a 5K in Virginia! I think there are exciting things ahead for iSACRA, and I look forward to continuing to get to know the members.
On June 6, we will be celebrating our second anniversary. Our Facebook group now has almost 650 members! And next week we are having our first really big fundraiser, a 5K in Virginia! I think there are exciting things ahead for iSACRA, and I look forward to continuing to get to know the members.
Tuesday, March 22, 2011
Great New Site on Caudal Regression Syndrome
Jessica, who has CRS, recently started her own site with information about CRS. It is a great site with lots of first-hand helpful information. She has a goal of forming an organization on CRS as well. Check out her site at Caudal Regression Syndrome Association.
I especially like her Recommended Articles, which include an article for parents that would really be helpful early on as well as articles on walking for kids with CRS, how to handle staring, having a support system, etc.
She also has information on sports, wheelchairs and other equipment, and how to meet other people with CRS. All around a very helpful and great site!
I especially like her Recommended Articles, which include an article for parents that would really be helpful early on as well as articles on walking for kids with CRS, how to handle staring, having a support system, etc.
She also has information on sports, wheelchairs and other equipment, and how to meet other people with CRS. All around a very helpful and great site!
Wednesday, September 1, 2010
TLC Program on Woman with Caudal Regression
TLC recently featured an hour-long show on Joanne Fluke, who has caudal regression syndrome and participates in ballroom dancing. Here are some links.
A blogger at FWD (Females with Disabilities) responds to the TLC program and to other media coverage of Joanne.
One of the sensationalist-type stories like the ones FWD responds to above: story in the UK's Mirror
To see Joanne dancing firsthand, see this Groovability video.
A blogger at FWD (Females with Disabilities) responds to the TLC program and to other media coverage of Joanne.
One of the sensationalist-type stories like the ones FWD responds to above: story in the UK's Mirror
To see Joanne dancing firsthand, see this Groovability video.
Friday, August 13, 2010
Serial Casting Results
The serial casting went really well! His feet are a lot flatter, and his right foot, which was going in, is straighter. Also, he is not getting the red spots on his feet that he was getting from his braces because they fit him correctly again! It is amazing that we could do this in just 3 weeks. Here is a before and after photo. I never take them from the same angles, ughhg, but these two are really close for comparison.
Monday, August 2, 2010
Serial Casting: Weeks 1 and 2
Jordan is going through another few weeks of serial casting. His feet are just not flat anymore, and he is standing on his toes. Also, his left foot is really rotating in. Hopefully the serial casting will do something to put off more surgery and will keep him doing as well as he's doing.
Here are his feet before the first casts were put on. Notice how he is standing on his toes. He can't flatten them. It's hard to flatten them all the way if you push on them, too.
Here are his feet before the first casts were put on. Notice how he is standing on his toes. He can't flatten them. It's hard to flatten them all the way if you push on them, too.
He is going to have these casts on for 2 weeks. This Wednesday will be 2 weeks, actually, so I'm eager to see what his feet look like so far. The PT thinks it will take just a few casts, and they will definitely be done before school starts. I am hoping we will have at least a week or 2 at the end of the summer for more swimming when he is out of the casts!
This shows how he just goes about doing everything he usually does while wearing the casts.
He actually got some wood chips in his casts that day at the playground. I hope I was able to get them all out and that when they cut off the casts, a whole lot of wood chips don't fall out!
I'll post more photos after he gets the casts changed this week.
Sunday, July 12, 2009
More from Kurt Fearnley
Kurt Fearnley is up to more amazing things! You can read about it here:
Australia's most inspirational athlete confronts the toughest challenge of his amazing life
and here:
Kurt Fearnley plans to give Australian crawl a new meaning.
What an amazing guy!
Australia's most inspirational athlete confronts the toughest challenge of his amazing life
and here:
Kurt Fearnley plans to give Australian crawl a new meaning.
What an amazing guy!
Tuesday, May 26, 2009
My CRS Article Published in Action
I'm pretty excited because I have had an article on CRS published in the May/June issue of Action magazine, which is published by the United Spinal Association. The article is available here.
Wednesday, September 24, 2008
Kurt Fearnley Wins the Marathon in the Paralympics
Kurt Fearnley ended up winning the marathon in the Paralympics after his bad luck in the earlier races (see Kurt Fearnley’s Week from Hell). I liked what he said after winning: "It was as if it was just building in tension and building in hype. I knew in myself every single bad thing that happened just meant the next good thing that happened was going to be twice as good.”
Tuesday, September 16, 2008
Kurt Fearnley in the 2008 Paralympics
The Paralympics have been going on in China for quite some time now, and they aren't getting a fraction of the publicity the Olympics got. One of the big names in the news is Kurt Fearnley, who is ranked number one in the 1500 meter, the 5000 meter, and the marathon. He has been having some bad luck lately with first being assigned the wrong lane and then being hit from behind during the 1500 meter race yesterday: Kurt Fearnley's Rotten Luck.
Fearnley has sacral agenesis and is Australian. For more, see Athletes with CRS/SA.
Monday, April 21, 2008
Urinary Nerve Rewiring
Another exciting new development in urology: urinary nerve rewiring.
So far they are trying this for people with spina bifida and spinal cord injury. Of course it is also exciting for people with CRS/SA.
"The children previously required the insertion of a catheter to empty their bladder or endured significant incontinence. But as a result of the surgery, they are beginning to void on their own and are also seeing improvement in bowel function. Initially they signaled the bladder to urinate by scratching or pinching their leg or buttocks. But, remarkably, in most patients the brain was able to take over and control urination normally.
Another story on this can be found at Gaining Control.
So far they are trying this for people with spina bifida and spinal cord injury. Of course it is also exciting for people with CRS/SA.
"The children previously required the insertion of a catheter to empty their bladder or endured significant incontinence. But as a result of the surgery, they are beginning to void on their own and are also seeing improvement in bowel function. Initially they signaled the bladder to urinate by scratching or pinching their leg or buttocks. But, remarkably, in most patients the brain was able to take over and control urination normally.
Another story on this can be found at Gaining Control.
Friday, April 18, 2008
Limitations
I saw another news story today about a man with CRS. He is a computer teacher named Adam Holmes. He says, ""Admit your limitations so you can get around them." I think that's a good attitude for us parents to think about. We tell
Thursday, April 10, 2008
Kid with CRS on Dr. Phil Show
A woman I know through online message boards was on the Dr. Phil Show this week with her son and family. Her son, Jaya, is 1 month older than my son, Jordan, and like Jordan, he has CRS. He doesn't have feeling or movement in his legs, so they have been debating getting his legs disarticulated at the knee.
Click here and page down to A Heartwrenching Decision.
This is a very difficult decision that she has struggled with. I can see both sides of the argument. It is hard because it would be terrible if Jaya had this done and then blames his mother when he gets older and questions why she had it done. It's his body and maybe it should be his decision to make later in life. He won't be a child forever. And maybe there will be medical advances that could help Jaya someday, things that are unimaginable now. How many years ago could we not even imagine pacemakers, MRI, corneal implants, heart transplants? They can GROW BLADDERS now. It seems like nothing is impossible.
Click here and page down to A Heartwrenching Decision.
This is a very difficult decision that she has struggled with. I can see both sides of the argument. It is hard because it would be terrible if Jaya had this done and then blames his mother when he gets older and questions why she had it done. It's his body and maybe it should be his decision to make later in life. He won't be a child forever. And maybe there will be medical advances that could help Jaya someday, things that are unimaginable now. How many years ago could we not even imagine pacemakers, MRI, corneal implants, heart transplants? They can GROW BLADDERS now. It seems like nothing is impossible.
However, it's not that I think he should be "fixed." Walking is a big deal to most people. Seeing someone using a wheelchair conjures up a lot of feelings of pity--that poor person can't walk! When someone like Christopher Reeve says, "I will walk again someday," it inspires us. It is understandable that that person would want to walk again! Who wouldn't?
But that isn't how every wheelchair user actually feels. As “Bad Cripple”
Wheelchairs should be viewed as devices that create independence and mobility. The orthopedic surgeon we see has been trying to get us used to the idea of a wheelchair since Jordan was a baby. He stresses that we use cars every day as a way to get around--just another kind of wheelchair, he says. Really, there is no shame in using a wheelchair. Our son is about to undergo serial casting and might need to use a wheelchair. When I tell people about it, I can see them visibly flinch. It is going to take some getting used to, and it will probably be hard seeing him using it. But we just have to realize that it's a good thing to have one to get around in.
But back to Jaya: we don't need to wait to "fix" him with these great medical advances that might come along someday, with the ultimate goal of having him walk. The important thing is giving him a better quality of life. I know Kristi wants to do what's best for Jaya, and that is what is getting lost in the debate on the message board on the Dr. Phil site. She has researched it and is doing what she thinks is best for her child. She doesn't wish him any harm, only to improve his life. None of us should judge her for that.
But that isn't how every wheelchair user actually feels. As “Bad Cripple”
Wheelchairs should be viewed as devices that create independence and mobility. The orthopedic surgeon we see has been trying to get us used to the idea of a wheelchair since Jordan was a baby. He stresses that we use cars every day as a way to get around--just another kind of wheelchair, he says. Really, there is no shame in using a wheelchair. Our son is about to undergo serial casting and might need to use a wheelchair. When I tell people about it, I can see them visibly flinch. It is going to take some getting used to, and it will probably be hard seeing him using it. But we just have to realize that it's a good thing to have one to get around in.
But back to Jaya: we don't need to wait to "fix" him with these great medical advances that might come along someday, with the ultimate goal of having him walk. The important thing is giving him a better quality of life. I know Kristi wants to do what's best for Jaya, and that is what is getting lost in the debate on the message board on the Dr. Phil site. She has researched it and is doing what she thinks is best for her child. She doesn't wish him any harm, only to improve his life. None of us should judge her for that.
Tuesday, March 25, 2008
Coolest Video Ever
This guy, who does the The Rolling Exhibition, never says that he has CRS/SA, but his condition must be somewhat similar. But this is the coolest video: Kevin Connolly Auto Bio
Tuesday, February 26, 2008
New Parents: Start Here!
Just like the purpose of this blog, this list is meant to be something I wish I would have had when my son was first diagnosed with CRS. On six ultrasounds when I was pregnant, they didn’t find anything unusual about him. But when he was born, it was clear that he had some issues with his legs and feet. My husband and I had no clue, and the sad part was, neither did the doctors! No one really ever told us anything; we had to go out and find the information on our own. It was a very stressful time, but somehow we managed to get him to the specialists he needed to see in a very short amount of time.
This list may vary, especially if your child is diagnosed in utero or later in life. But for me, this is the list I wish I would have had when Jordan was first born.
1. Schedule appointments. Your child needs to see a pediatric urologist, pediatric orthopedic surgeon, and pediatric neurosurgeon (not neurologist) as soon as possible.
The urologist will do studies to make sure your child’s kidneys are fine and that there is no reflux.
The neurosurgeon will probably have an MRI done to look at your child’s spine and get a baseline to compare with as your child grows.
The orthopedic surgeon will examine your child’s spine, feet, and legs and will address any issues. If your child has clubfeet, the doctor may try casting your child’s feet.
2. Schedule an evaluation for early intervention services. My son has received 2 hours per week of physical therapy since he was 2 weeks old. Early intervention can also provide occupational therapy and speech therapy.
3. Check into Medicaid. Pennsylvania has a loophole under which any child with a disability can receive Medicaid at no charge, and it's not based on the parents' income. I don't know about laws in other states, but you should check into it. We have Medicaid for our son's backup insurance, and it covers the primary insurance's copays. It has been a life saver for us!
4. While you’re waiting around for the appointments, gather information from trustworthy sources. CRS is such a rare condition that most doctors have never heard of it. Our son was diagnosed by a geneticist. You may have the same experience. The doctor may give you some information, but it will most likely be worst-case scenarios, and it most certainly will not be based on YOUR child. Your child has not been featured in any medical textbooks. Your child is not a statistic. Your child is an individual, and just like ANY individual on this earth, he or she will have accomplishments and failures. Some things will be more difficult for him, and some things will be easier than for other people. Don’t listen to any doctor who tries to lay out your child’s life for you when your child is a newborn! Or even when she is a toddler, or even a teenager! Keep this in mind: Your child is an individual.
When my son was about 1 year old, the orthopedic surgeon told us that our son would be in a wheelchair when he got older. Only 6 months later, the same doctor said our son would be out of braces someday and would not even use a walker or crutches to walk; he’d walk all on his own. It was then that it was truly confirmed for me that no doctor could ever lay out the course of our son’s life. Things may be predetermined by God—again, also debatable—but they are NEVER predetermined by anyone in the medical profession.
But back to gathering information. Look at the facts that you read on web sites (some starting links are to the right), but realize that these are broad “facts,” and that your child is an individual who has never before been seen here. The most valuable source for me has been other parents of kids with CRS and also adults with CRS. You can “meet” them on message boards. These parents and adults with CRS know more than any doctor can ever tell you about living day to day with the condition.
5. Start a binder or file to organize medical records. As time goes by, you’ll see what works best for you. I use an expanding file organized by specialty. I don’t like having to punch holes in papers and insert them in a binder. But if you enjoy binders, use them! Every 6 months, I ask for all of my son’s medical records. If you prefer, you can ask them at every visit to give you a copy. It is also helpful to order copies of all medical imaging is done. Most hospitals can give these to you on a CD at no cost! These are helpful for you to have on hand in case you ever want to get a second opinion; then you won’t have to wait for records to be sent. Also, it’s just nice to have the records on hand so you can review them at your leisure or when you feel like dealing with them!
6. RELAX and enjoy your new baby! You’ve done all you can for now, and you have to just celebrate the new little person in your life. Your baby will bring you more joy than you ever could imagine. You don’t know it right now, but you are in for the most wonderful adventure of your life. There will be hard times, times when you feel like giving up, when you blame yourself, when you think you can’t go on, but you will also have the complete opposite times—times when you cherish “the little things” more than other parents, times when your child makes you burst with pride you never knew you could have felt. Having a child with CRS is a life-changing event, with much more good than bad. As another mother of a child with a disability wrote on her blog, “My heart is breaking for you, but it also knows the joy that will come to you.”
“Amazing” sung by Janelle
The morning cold and raining,
dark before the dawn could come
How long in twilight waiting
longing for the rising sun
You came like crashing thunder
breaking through these walls of stone
You came with wide-eyed wonder
into all this great unknown
Hush now don’t you be afraid
I promise you I’ll always stay
I’ll never be that far away
I’m right here with you
You’re so amazing, you shine like the stars
You’re so amazing, the beauty you are
You came blazing right into my heart
You’re so amazing you are...
You are
You came from heaven
shining Breath of God still flows from you
The beating heart inside me
Crumbled at this one so new
No matter where how far you wander
For a thousand years or longer
I will always be there for you
Right here with you
I hope your tears are few and fast
I hope your dreams come true and last
I hope you find love that goes on and on and on and on and on
I hope you wish on every star
I hope you never fall too far
I hope this world can see how wonderful you are
You’re so amazing, you shine like the stars
You’re so amazing, the beauty you are
You came blazing right into my heart
You’re so amazing you are...
You are
This list may vary, especially if your child is diagnosed in utero or later in life. But for me, this is the list I wish I would have had when Jordan was first born.
1. Schedule appointments. Your child needs to see a pediatric urologist, pediatric orthopedic surgeon, and pediatric neurosurgeon (not neurologist) as soon as possible.
The urologist will do studies to make sure your child’s kidneys are fine and that there is no reflux.
The neurosurgeon will probably have an MRI done to look at your child’s spine and get a baseline to compare with as your child grows.
The orthopedic surgeon will examine your child’s spine, feet, and legs and will address any issues. If your child has clubfeet, the doctor may try casting your child’s feet.
2. Schedule an evaluation for early intervention services. My son has received 2 hours per week of physical therapy since he was 2 weeks old. Early intervention can also provide occupational therapy and speech therapy.
3. Check into Medicaid. Pennsylvania has a loophole under which any child with a disability can receive Medicaid at no charge, and it's not based on the parents' income. I don't know about laws in other states, but you should check into it. We have Medicaid for our son's backup insurance, and it covers the primary insurance's copays. It has been a life saver for us!
4. While you’re waiting around for the appointments, gather information from trustworthy sources. CRS is such a rare condition that most doctors have never heard of it. Our son was diagnosed by a geneticist. You may have the same experience. The doctor may give you some information, but it will most likely be worst-case scenarios, and it most certainly will not be based on YOUR child. Your child has not been featured in any medical textbooks. Your child is not a statistic. Your child is an individual, and just like ANY individual on this earth, he or she will have accomplishments and failures. Some things will be more difficult for him, and some things will be easier than for other people. Don’t listen to any doctor who tries to lay out your child’s life for you when your child is a newborn! Or even when she is a toddler, or even a teenager! Keep this in mind: Your child is an individual.
When my son was about 1 year old, the orthopedic surgeon told us that our son would be in a wheelchair when he got older. Only 6 months later, the same doctor said our son would be out of braces someday and would not even use a walker or crutches to walk; he’d walk all on his own. It was then that it was truly confirmed for me that no doctor could ever lay out the course of our son’s life. Things may be predetermined by God—again, also debatable—but they are NEVER predetermined by anyone in the medical profession.
But back to gathering information. Look at the facts that you read on web sites (some starting links are to the right), but realize that these are broad “facts,” and that your child is an individual who has never before been seen here. The most valuable source for me has been other parents of kids with CRS and also adults with CRS. You can “meet” them on message boards. These parents and adults with CRS know more than any doctor can ever tell you about living day to day with the condition.
5. Start a binder or file to organize medical records. As time goes by, you’ll see what works best for you. I use an expanding file organized by specialty. I don’t like having to punch holes in papers and insert them in a binder. But if you enjoy binders, use them! Every 6 months, I ask for all of my son’s medical records. If you prefer, you can ask them at every visit to give you a copy. It is also helpful to order copies of all medical imaging is done. Most hospitals can give these to you on a CD at no cost! These are helpful for you to have on hand in case you ever want to get a second opinion; then you won’t have to wait for records to be sent. Also, it’s just nice to have the records on hand so you can review them at your leisure or when you feel like dealing with them!
6. RELAX and enjoy your new baby! You’ve done all you can for now, and you have to just celebrate the new little person in your life. Your baby will bring you more joy than you ever could imagine. You don’t know it right now, but you are in for the most wonderful adventure of your life. There will be hard times, times when you feel like giving up, when you blame yourself, when you think you can’t go on, but you will also have the complete opposite times—times when you cherish “the little things” more than other parents, times when your child makes you burst with pride you never knew you could have felt. Having a child with CRS is a life-changing event, with much more good than bad. As another mother of a child with a disability wrote on her blog, “My heart is breaking for you, but it also knows the joy that will come to you.”
“Amazing” sung by Janelle
The morning cold and raining,
dark before the dawn could come
How long in twilight waiting
longing for the rising sun
You came like crashing thunder
breaking through these walls of stone
You came with wide-eyed wonder
into all this great unknown
Hush now don’t you be afraid
I promise you I’ll always stay
I’ll never be that far away
I’m right here with you
You’re so amazing, you shine like the stars
You’re so amazing, the beauty you are
You came blazing right into my heart
You’re so amazing you are...
You are
You came from heaven
shining Breath of God still flows from you
The beating heart inside me
Crumbled at this one so new
No matter where how far you wander
For a thousand years or longer
I will always be there for you
Right here with you
I hope your tears are few and fast
I hope your dreams come true and last
I hope you find love that goes on and on and on and on and on
I hope you wish on every star
I hope you never fall too far
I hope this world can see how wonderful you are
You’re so amazing, you shine like the stars
You’re so amazing, the beauty you are
You came blazing right into my heart
You’re so amazing you are...
You are
Thursday, January 24, 2008
Athletes with CRS
Sometimes I worry because we have always told our son that there isn’t anything he can’t do, yet the doctors have said he shouldn’t do contact sports. This is because of his fused cervical vertebrae and also his kidneys, which are located lower than usual and therefore aren’t protected by his ribs. How are we going to break it to him that he can’t do some sports? However, I am seeing that there are tons of sports he can still do. I have already gotten him into swimming, but there is so much more! Anything is possible.
Kurt Fearnley from Australia has won several marathons, including last year’s New York City Marathon, in the wheelchair division. He also won at the 2004 Olympics for wheelchair racing. (This is not an official Olympic sport yet; this was just an exhibition event.)
Then there is Bobby Martin , who has no legs and plays college football.
Kevin Michael Connolly, is a photographer who also skis. (Note: Connolly never says he has CRS. In fact, he says he has a "spontaneous birth defect." However, I include him here because a lack of legs is sometimes characteristic of people with CRS, mainly from disarticulations.)
Tyler Walker also skis. He says, “I don't want to be viewed as a group of people who are missing limbs and are allowed to do an event just to make us feel good," Walker said. "I would feel really good to be an inspiration because I'm a good athlete or good at skiing, not because I'm in a wheelchair or I mono ski. There's a big difference there.
"When we achieve that, we'll be truly equal."
Kurt Fearnley from Australia has won several marathons, including last year’s New York City Marathon, in the wheelchair division. He also won at the 2004 Olympics for wheelchair racing. (This is not an official Olympic sport yet; this was just an exhibition event.)
Then there is Bobby Martin , who has no legs and plays college football.
Kevin Michael Connolly, is a photographer who also skis. (Note: Connolly never says he has CRS. In fact, he says he has a "spontaneous birth defect." However, I include him here because a lack of legs is sometimes characteristic of people with CRS, mainly from disarticulations.)
Tyler Walker also skis. He says, “I don't want to be viewed as a group of people who are missing limbs and are allowed to do an event just to make us feel good," Walker said. "I would feel really good to be an inspiration because I'm a good athlete or good at skiing, not because I'm in a wheelchair or I mono ski. There's a big difference there.
"When we achieve that, we'll be truly equal."
Monday, January 7, 2008
The Rolling Exhibition
Someone sent me info about this guy, Kevin Michael Connolly, who was born without legs. He has traveled the world taking photos of people staring at him. It doesn't say anywhere that he has CRS/SA, but it seems like he might. His photos are amazing: The Rolling Exhibition
And here is an ABC story about him: Man Without Legs Harnesses Public Gaze
He talks on his site about why people stare and why they want to create stories to explain his condition. The people in his photos all have a similar confused look on their faces. When people stare at Jordan, they usually smile and cheer him on. "You're doing great!" they shout. That can annoy me a lot of days, but I usually try to ignore it. No one has ever taken much notice of me, so it's hard going from that to seeing my son started at wherever we go. But I can imagine that it's hard, too, going through your whole life being stared at. I still can't understand why people do it, and especially why they feel the need to cheer on Jordan. How do they know he's "doing great?" Maybe last week he didn't need the walker, and he's doing WORSE. They have no clue. And as soon as I "handle" one of these starers, another one springs up in his or her place. I can't fight against it. It's just going to happen, and I have to accept it. But more than that, I have to make sure that he can accept it and deal with it in a healthy way. It's kind of hard when I have so many problems with it myself.
And here is an ABC story about him: Man Without Legs Harnesses Public Gaze
He talks on his site about why people stare and why they want to create stories to explain his condition. The people in his photos all have a similar confused look on their faces. When people stare at Jordan, they usually smile and cheer him on. "You're doing great!" they shout. That can annoy me a lot of days, but I usually try to ignore it. No one has ever taken much notice of me, so it's hard going from that to seeing my son started at wherever we go. But I can imagine that it's hard, too, going through your whole life being stared at. I still can't understand why people do it, and especially why they feel the need to cheer on Jordan. How do they know he's "doing great?" Maybe last week he didn't need the walker, and he's doing WORSE. They have no clue. And as soon as I "handle" one of these starers, another one springs up in his or her place. I can't fight against it. It's just going to happen, and I have to accept it. But more than that, I have to make sure that he can accept it and deal with it in a healthy way. It's kind of hard when I have so many problems with it myself.
Tuesday, January 1, 2008
Starting a Foundation
I'd love to start a foundation for CRS/SA. If anyone knows anything about starting one, please get in touch with me at twxee@aol.com. Also, if anyone is interested in getting involved in a CRS/SA foundation, also email me! I have met some great people on the message boards dedicated to CRS/SA, and I can see that kind of support continuing through a foundation. I think it's great for the kids to meet others who have the condition, and of course the support the parents get through other parents is also very helpful. I am going to look more into how to do put all of this together, but I don't know a thing about it, so I need help, please!
Happy new year!!!
Happy new year!!!
Tuesday, November 13, 2007
New Studies on Single Umbilical Artery and Caudal Regression Syndrome
I found a few new articles (from just last month!) saying that CRS may be caused by an issue with the umbilical cord. This is what I’ve suspected all along because I did have a single umbilical artery (SUA). The umbilical cord is supposed to have two arteries and one vein, so SUA is when one of the arteries is missing. On one of my ultrasounds, they did say that they thought there was an issue with the umbilical cord, and they had me come back the next week for another look. They said then that there was no problem. However, when Jordan was born, they clearly saw the SUA. A few people in my online groups have said that they also had a SUA with their children with CRS.
It makes sense—the blood flow did not get to the entire fetus, so that affected growth of the lower portion, the “caudal” portion. Now, what causes the SUA...?
Here are the articles:
Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP: Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet 2007 Oct 26 [Epub ahead of print].
Abstract: Sirenomelia and caudal regression have sparked centuries of interest and recent debate regarding their classification and pathogenetic relationship. Specific anomalies are common to both conditions, but aside from fusion of the lower extremities, an aberrant abdominal umbilical artery (“persistent vitelline artery”) has been invoked as the chief anatomic finding that distinguishes sirenomelia from caudal regression. This observation is important from a pathogenetic viewpoint, in that diversion of blood away from the caudal portion of the embryo through the abdominal umbilical artery (“vascular steal”) has been proposed as the primary mechanism leading to sirenomelia. In contrast, caudal regression is hypothesized to arise from primary deficiency of caudal mesoderm. We present five cases of caudal regression that exhibit an aberrant abdominal umbilical artery similar to that typically associated with sirenomelia. Review of the literature identified four similar cases. Collectively, the series lends support for a caudal regression-sirenomelia spectrum with a common pathogenetic basis and suggests that abnormal umbilical arterial anatomy may be the consequence, rather than the cause, of deficient caudal mesoderm.
Stierkorb E, Hentschel J, Schneider G, Gortner L, Rohrer T: [Sonographic diagnosis of caudal regression syndrome.] Ultraschall Med 2007, 28(5):521–524.
Abstract: Caudal regression sequence (CRS) is a rare developmental defect of the lower spinal segments and the neural tube. Motor and sensory neurological deficits of the lower extremities as well as a reduced control of bowel and bladder functions are the main symptoms. Etiology and pathogenesis are widely unknown. This article discusses a newborn male with postnatal anomalies of the lower extremities. Sonographically, the spinal cord ended in the lumbar region. NMR confirmed the suspected sonographic finding of CRS. Sonographic examination of the abdominal vessel system depicted a common origin and junction of the hepatic artery, splenic artery and superior mesenteric artery from one common truncus. This points to a possible relict of a persisting vitelline artery. As previously described in sirenomelia, the findings in the present case indicate a possible vascular etiology of CRS.
Duh YC, Chia ST, Sheu JC, Peng CC: Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. Eur J Pediatr Surg 2007, 17(5):370–372.
Abstract: Caudal regression syndrome consists of multiple congenital anomalies, mainly caudal segment defects. We describe a preterm baby born to a healthy mother with typical caudal regression picture, including imperforated anus with rectovesical fistula, sacral agenesis, multiple rib and vertebral anomalies, and club feet. Crossed fused renal ectopia with fused ureters resulting in urinary obstruction was managed with transureteroureterostomy and cutaneous vesicostomy. We also found a single large umbilical artery with high abdominal aortic insertion which usually presents in sirenomelia. Because of the anatomical diversity of the urinary and cardiovascular systems associated with multiple congenital anomalies, careful evaluation is mandatory.
It makes sense—the blood flow did not get to the entire fetus, so that affected growth of the lower portion, the “caudal” portion. Now, what causes the SUA...?
Here are the articles:
Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP: Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet 2007 Oct 26 [Epub ahead of print].
Abstract: Sirenomelia and caudal regression have sparked centuries of interest and recent debate regarding their classification and pathogenetic relationship. Specific anomalies are common to both conditions, but aside from fusion of the lower extremities, an aberrant abdominal umbilical artery (“persistent vitelline artery”) has been invoked as the chief anatomic finding that distinguishes sirenomelia from caudal regression. This observation is important from a pathogenetic viewpoint, in that diversion of blood away from the caudal portion of the embryo through the abdominal umbilical artery (“vascular steal”) has been proposed as the primary mechanism leading to sirenomelia. In contrast, caudal regression is hypothesized to arise from primary deficiency of caudal mesoderm. We present five cases of caudal regression that exhibit an aberrant abdominal umbilical artery similar to that typically associated with sirenomelia. Review of the literature identified four similar cases. Collectively, the series lends support for a caudal regression-sirenomelia spectrum with a common pathogenetic basis and suggests that abnormal umbilical arterial anatomy may be the consequence, rather than the cause, of deficient caudal mesoderm.
Stierkorb E, Hentschel J, Schneider G, Gortner L, Rohrer T: [Sonographic diagnosis of caudal regression syndrome.] Ultraschall Med 2007, 28(5):521–524.
Abstract: Caudal regression sequence (CRS) is a rare developmental defect of the lower spinal segments and the neural tube. Motor and sensory neurological deficits of the lower extremities as well as a reduced control of bowel and bladder functions are the main symptoms. Etiology and pathogenesis are widely unknown. This article discusses a newborn male with postnatal anomalies of the lower extremities. Sonographically, the spinal cord ended in the lumbar region. NMR confirmed the suspected sonographic finding of CRS. Sonographic examination of the abdominal vessel system depicted a common origin and junction of the hepatic artery, splenic artery and superior mesenteric artery from one common truncus. This points to a possible relict of a persisting vitelline artery. As previously described in sirenomelia, the findings in the present case indicate a possible vascular etiology of CRS.
Duh YC, Chia ST, Sheu JC, Peng CC: Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. Eur J Pediatr Surg 2007, 17(5):370–372.
Abstract: Caudal regression syndrome consists of multiple congenital anomalies, mainly caudal segment defects. We describe a preterm baby born to a healthy mother with typical caudal regression picture, including imperforated anus with rectovesical fistula, sacral agenesis, multiple rib and vertebral anomalies, and club feet. Crossed fused renal ectopia with fused ureters resulting in urinary obstruction was managed with transureteroureterostomy and cutaneous vesicostomy. We also found a single large umbilical artery with high abdominal aortic insertion which usually presents in sirenomelia. Because of the anatomical diversity of the urinary and cardiovascular systems associated with multiple congenital anomalies, careful evaluation is mandatory.
Subscribe to:
Posts (Atom)