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 Jordan that he just has to try stuff and find a different way to do things sometimes. We don't want to admit that he has limitations. But maybe this is a good way to look at it--admit the limitations and then find ways to get around them.

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

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."

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.

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!!!

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.

Books Are Great, Too!

So many books about people with disabilities have that whole "inspirational story" angle to them. When I first had my son, I thought these books were great! Then I started to think about how people with medical issues are not around for everyone else to get inspired by. That shouldn't be the requirement of anyone's lives.

With that said, here are a few books that have inspired me hhah along the way:

Reflections from a Different Journey. What Adults with Disabilities Want All Parents to Know, edited by Stanley D. Klein and John D. Kemp. This one has all the usual inspirational stories that get on my nerves, but I did learn two things from it: how to react when people stare and that my son is not my client or patient; he is merely my son. I have been guilty of treating him like my client or patient all too often, so I try to keep this in mind now. I'll write more on that later.

I really like Disability Is Natural: Revolutionary Common Sense for Raising Successful Children With Disabilities by Kathie Snow. She has a great website, too, at http://www.disabilityisnatural.com/. This book and website will change how you view people with disabilities.

Then there’s Changed by a Child: Companion Notes for Parents of a Child with a Disability. It’s great reading something by someone who has been through so many experiences that are so similar to mine. Sometimes I think I “think too much,” but reading this book, it makes me feel NORMAL to feel the way I do. I would recommend it to any parent with a child with a disability. Among other things, even though the book was written 10 years ago, she’s opposed to the term “special needs,” as I am, and she talks about it just like I think of it: “special needs” is just a way of saying “segregated.”

So much of the book is about the conflicting feelings parents may experience. She has short 1- or 2-page essays, and you can just turn to one and read however many you like. You’ll always come across something new, something written by someone who truly understands. An example: She talks about a father whose son (with a cognitive disability) is doing well, but then he comes home to see his son lonely while his siblings have all gone out with their friends. This brings up all kinds of feelings for the father, all the old feelings and fears:

The emotions do not fade. The intense sorrow and grief we felt when we first found out about our child’s disability live on in us and, like the emotions connected with other significant events in our life, will continue to be exposed by unexpected words or events. We cannot choose the moments when the covering of everyday life will tear and we will feel that first pain afresh. The rips will catch us unexpectedly, arising out of the most mundane events. There is really no way to anticipate or avoid them.

And we needn’t wish to avoid these moments of hurt, because they tell us we are alive—alive to live our own life experience and alive to our child and to everything about him. The part of us tender enough to feel that pain is the same part that enables us to respond to our child’s feelings, love him, and take action on his behalf.

Some other books that have kind of the “inspirational” angle but are still worth reading are:

Giant Steps: The Story of One Boy’s Struggle to Walk by Gilbert Gaul was probably the first book I read after my son was born. It was helpful to read about someone who had gone practically the exact same “birth experience” as me. The author’s son has spina bifida, so he writes about that and also about insurance struggles and things like that.

I read Still Me by Christopher Reeve when my son was a newborn, too. It gives a good perspective on what it felt like to him when he was coming to terms with his paralysis. This is not exactly the same viewpoint kids with CRS will have, but it was a good insider’s look anyway.

Related to the Christopher Reeve book is FDR's Splendid Deception: The Moving Story of Roosevelt's Massive Disability And the Intense Efforts to Conceal It from the Public on our only president who has been a wheelchair user, Franklin Roosevelt. The book is It spends a lot of time focusing on his rehabilitation at Warm Springs and then how he became president “despite” his disability. (I also saw a pretty good movie made from this book, starring Kenneth Branaugh, of all people as Roosevelt—and he was really good!)

I recently read Life As We Know It: A Father, a Family, and an Exceptional Child by Michael Berube. This one has a lot of “intellectual-speak,” including mention of every graduate student’s worst nightmare, Foucault! If you’ve taken even one graduate class in the humanities, you probably know what I mean. However, the parts about his son, who has Down syndrome, and how he came to terms with it as a father, are pretty interesting and helpful to other parents.

No Excuses: The True Story of a Congenital Amputee Who Became a Champion in Wrestling and in Life by Kyle Maynard, a kid with no arms or legs who is into wrestling.

You Will Dream New Dreams: Inspiring Personal Stories by Parents of Children With Disabilities edited by Stanley Klein and Kim Schive is melodramatic and has that whole “inspirational” angle, but if you want more first-person stories from parents, this one is good for that.

Some of these books don’t do everything right, or the way I’d like them to do things, but I think you can find something of worth in each one.

Also, to find more books, this site looks really promising: Disabilities Books at http://www.disabilitiesbooks.com/.

Message Boards: An Invaluable Resource!

My links to the right are getting very long, but I wanted to add these links to CRS/SA message boards. Meeting other parents and also adults who have the condition helped me so much in the beginning, and we continue to share information every day that is so helpful. There was a pretty bad mesage board on MSN when I first had Jordan. I would stare at the images on there at 4 am while holding him when he wouldn't sleep. It was scary to see those black and white images of children with the condition that he has. Their eyes were blacked out for anonymity, somehow making it worse. I know it was for privacy, but to me, it was just more impersonal and scarier.

But things have progressed a lot since then, and the following yahoo message boards have been nothing but helpful to me. I can't imagine doing this without talking to other people who actually know what CRS/SA is!!!

These ones are the most active:
caudalregressionsyndrome
Sacral_Agenesis_Australia (this is a new group that is somewhat active, and they do accept Americans!)

These have very few postings, but it's good to join all of them just in case:
caudal_regression
SacralAgenesis
sacralagenesis2

These are some related message boards.
clubfoot
Warning: The clubfoot boardhas members who mainly believe in nonsurgical clubfoot methods. These do not always work for kids with CRS/SA.

LMC-TCS
Not all people with CRS have tethered cord, but it's good to know about the condition and be on the lookout for it.

I also find it very helpful to be on some spina bifida boards. Because SB is much more common, the groups have a lot more postings usually. And of course, many of the bladder, spinal, and lower extremity issues are very similar between CRS and SB.
InternationalSpinaBifidaSup...

Spina Bifida Parents List: This one is very active and has great members with great information and advice.
Add Yourself to the ListServ:Send an email to: SBParents-on@lists.sbaa-communities.org. Leave the subject line and the body blank.

The Diabetes Thing

Today I learned that the term "the syndrome of caudal regression" was first used in 1960 by Dr. Bernard Duhamel. I am still unclear about whether the term CRS replaced SA or means the same thing. I have thought that CRS is the older term, but others have disagreed with me.

It seems that researchers are always trying to make the case that CRS is related to maternal diabetes. Yet they admit that this is the cas e only 16% of the time. That leaves 84% totally unknown. Hmmm....

The article below discusses twins, one with CRS and one without. It seems that there is more to the situation than the maternal environment....

Zaw W, Stone DG: J Perinatol 22, 171-174, 2002.

Here is a strange one about an association with retinoic acid. They are adding another teratogen on top of maternal diabetes to cause CRS.

Chan BWH, Chan K-S, Koide T, et al: Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes 51:2811-2816, 2002.

Another teratogen one, which states: "It is postulated, therefore, that diabetes may act as a coteratogen enhancing the teratogenic effect of other insults but may not itself cause malformations."

McCarter RJ, Kessler II: Is diabetes mellitus a teratogen or a coteratogen? Am J Epidemiol 125(2):195-205, 1987.

But what about when the mother does NOT have diabetes and took good care of herself, worked in a nontoxic job, took prenatal vitamins and folic acid for 3 years before conceiving....? I guess I shouldn't dwell on this, but when some pregnant women are literally on drugs and I took care of myself, yet I was the one to have this.... My son is wonderful, and I really can't imagine him any other way. I am just still wondering what is going on here and why this happened. I guess there really is no answer.