Category Archives: Personal Stories About Life with LS

Do What Works Best for You

By Ellen Ladau                                                          April 4, 2017

I do something that most people would consider unusual or weird.  I sleep in my UGG boots.  And not because I have cold feet- though I admit it was great this past winter.  I started doing this because I was having so much trouble with my AFO’s- ankle foot orthotics.  I need foot support at night because I have foot drop which can cause plantar fasciitis ( inflammation of the tendons on the bottom of the foot) or increased muscle contractures which would increasingly make it more difficult or even impossible for me to stand.  My AFO’s were very heavy and hot.  It was not unusual in any season to wake up with a soaking wet cotton liner I wore under the brace to protect my skin.   And since I could not put them on by myself, they caused a nightly “battle.” with my husband Marc :

“The straps are too loose”  He adjusts them.   Then, “The straps are too tight.”

You got the picture.  Another problem with the AFO’s is that if I needed to get up in the middle of the night I would have to wake him up to take them  off, and depending on the time of night, put them back on.  So, one lazy day,  when I put my feet up on the couch wearing my UGGS (it was an old couch),  I realized that due to the rigidity of the boots at the back of the heel, my feet were supported enough to avoid foot drop.  So, that night, I slept in the UGGS, and I have been doing that ever since.  Even though they have fur lining, they are cooler than the AFO’s and I have not woken up with sweaty feet once.  And, I can get up in the middle of the night without disturbing Marc.  Though he really should do something about our squeaky bedroom door!

I hope my UGGS story encourages you to take stock of all the “things” you need  use to accommodate or manage Larsen Syndrome ( or other physical disability)  for yourself or your family member.  It is the job of doctors, therapists, and orthotists to prescribe what they feel is best.  But they don’t have to use them or put up with the inconvenience or discomfort of them.  Now I am certainly not suggesting that you ignore medical advice.  But if something is really uncomfortable or not working for you or your child, try to think out of the box.  Is there something else that might work better?  It may be very well a different type of brace or piece of equipment.  Don’t be afraid to speak up to your health care providers; together you might come up with a better option.   We hear it all the time :  “ You have to be your own advocate.”  That really means do what is best for you-  even if  it means sleeping in UGGS.

Heartsounds: Managing Life with a Rare Disorder

By Ellen Ladau with special thanks to Shawnett Viani.

I recently read a book called Heartsounds by Martha Weinman Lear, published in 1980, that resonated with me on so many levels that I just had to share my thoughts on it.  This true story centers on a physician, Dr. Harold Lear, who was cut down in the the prime of his career by a heart attack.  His wife Martha, then a journalist for the New York Times, documents his courageous struggle for the next few years with congestive heart failure. After surviving cardiac bypass surgery, Dr. Lear experienced memory loss and other cognitive impairments but retained enough of his medical knowledge to realize he was at times being ignored, disrespected – or worse – improperly treated by the healthcare providers he had contact with.

To begin, Mrs. Lear’s moving account of her husband’s illness made me understand more about my father’s battle with congestive heart failure and appreciate more my mother’s constant care for him to prolong his life years beyond what his cardiologist expected.  But the book also spoke volumes about the frustration patients often encounter when dealing with the health care system.  If Dr. Lear – a physician – had issues, how can the rest of us with less extensive knowledge stand a chance?  This is even more of an issue when the patient has a rare disorder such as Larsen syndrome (LS). Says Shawnett, a 24-year-old woman with LS: “I have had a huge struggle with medical professionals helping me and understanding me and my needs. ‘I have Larsen syndrome,’ I’ll say. ‘You have what?’ says every medical professional.”

Unfortunately, Shawnett has suffered for years with debilitating symptoms such as persistent vomiting and pain that has been frequently misdiagnosed.  She has had to speak up many times and insist that the medical professionals she was dealing with “understand and research what Larsen syndrome is and consider it for every pain and symptom you have.”  She advises further: “Even if they think it has nothing to do with the LS or couldn’t possibly be related, insist it be considered.  It may save you a year of tests, questions, and frustrations.”

I certainly did not not set out to write “an attack piece” on the health care system. On the contrary,  I owe my daughter’s life to one amazing, gifted spinal surgeon who was willing to take on high risk for the best reward: a very successful cervical spine fusion that preserved a significant amount of head motion for my daughter. Even so, I can certainly identify with many of the frustrations Shawnett expresses.  Many of my family members and I have had some very trying experiences with certain healthcare providers.  And don’t even get me started on issues with health insurance companies.  So, what is a person with a rare disorder to do?

Be your own (or your family member’s) advocate.

Get organized. Get a large binder with dividers and make a section for each healthcare provider you see.  Many providers are giving visit summaries upon checkout  out so file these in the appropriate section along with any other important notes such as answers to questions you posed.  Take the binder to every appointment.  

Keep track of important medical appointments and events. Keep your own medical summary of important events such as surgeries, medications, etc., and keep it updated. I did this before my daughter entered the hospital for spinal fusion surgery and it was tremendously helpful because in times of stress the memory often fades.  One medical resident even asked for a copy of my summary to put in my daughter’s chart.  

Don’t go it alone. If possible, take an extra “pair of ears” to an appointment.  When you are in distress, or trying to comfort a child in distress, it is often difficult to absorb everything the health care professional is saying.  

Communicate. Be especially friendly to the support staff.  They are the ones who will get your message to the doctor quickly or get you a sooner appointment. Also, ask your healthcare provider for an email address.  Not all providers are willing to correspond by email with a patient outside the limited electronic healthcare records system but when I have asked  I have usually been given an active email address that is regularly used.  Just make sure to not abuse the privilege.

Do your part.  By this I mean keep up to date on medical/genetic knowledge and relay new information to your providers as soon as possible.  Also, if you feel comfortable doing so, write all those darned letters of medical necessity for equipment or other items your insurance will require documentation for. Then ask the doctor to just retype on his or her letterhead after approving and/or editing the letter.   No one knows why you or your child needs something better than you; the letters will be more impactful if they are more personalized as opposed to a more generic letter a time-pressed professional will write. If necessary, request assistance from a friend or other person with some medical background such as a physical therapist. Every time I have done this the doctor was grateful for the time I saved him or her.

Use the internet – cautiously.  Especially with rare disorders, not everyone will have the same symptoms or treatment outcomes.  And usually the people who have the more distressing experiences will be the ones to post about it.  When I developed tinnitus, my audiologist expressly advised me to stay away from internet based support groups because they would just make me focus more on the constant sound I was perceiving in my ear.

Trust your gut. If something does not feel right to you about the diagnosis or treatment being suggested, seek other opinions- especially if major surgery is involved.  

Finally, be realistic.  In today’s fast-paced medical world, it is impossible for every provider to know everything- especially when rare disorders are involved.  But by approaching each appointment  or procedure with an open-mind, developing good communication with your health-care providers, and being an advocate for yourself or your family member, your healthcare outcomes will be optimized.

A Mail Box Discovery: “Set the Wheels of Your Child’s Mobility in Motion”

Recently I was  doing a little “fall cleaning” which included deleting  old email files and I came across a file for Exceptional Parent which contained one email with a link to an article my daughter, Emily,  had published in that magazine in May 2014.  Though the magazine does not appear to be in publication anymore, re-reading her words about her journey from ambulating with a walker to being a full-time wheelchair user made me realize that her story may help some of you struggling with mobility concerns of your own or your child’s .   Here is the link:    Set the Wheels of Your Child’s Mobility in Motion

After reading her story ( which is really our family’s story), I hope you will take some time to leave some feedback in the comments section. Happy Fall!

Ellen Ladau

 

Life with LS: Four Things I Wish I had Done Differently

by Ellen Ladau    August 19, 2016

As a person with LS who is also a mom of someone with LS, you would think I was an expert. Hardly!  There are many things I wish I had done differently because I didn’t know any better or things that I knew better but still did not follow through on.  

I think my biggest issue has been one that is so familiar to so many, with or without LS- my weight.  If I had a nickel for every time my childhood orthopedist told me to watch my weight, I would be quite rich today.  Being overweight is not good for anyone’s joints- especially people with a predominantly joint disorder.  To be fair, some people’s weight  is largely determined by genetic factors but environment certainly plays a big role.  A pantry stocked with cookies and chips is definitely not helpful.  Also, inability to exercise effectively is sometimes a real problem. In my childhood, not being able to ride a bicycle was not only socially isolating but also more opportunity to sit around watching TV.  And, no doubt, this led to emotional eating as well. So my best advice, especially to parents of little ones with LS, is to get them as involved in as many extracurricular activities as possible.  Today, there are more than ever inclusive activities for children with disabilities such as accessible playgrounds and dance classes for mobility impaired kids,  Just be be sure to take appropriate safety precautions, especially if spinal defects are present.  When my daughter was younger, she wanted to do therapeutic horseback riding. A doctor’s consent was required by the program and the orthopedist refused citing concerns about a fall.  One activity that most orthopedists would likely approve of is swimming.  Water based activity is low impact on the joints and is great for building muscle strength: it is also fun for kids of all ages. If frequent ear infections are a concern, consult with an audiologist for custom-fit swim molds to help keep water out of the ears.

Another thing I wish I knew was to have myself and my daughter checked for sleep disorders.  Speak to your doctor about a sleep study to possibly diagnose sleep apnea ( frequent brief periods when breathing stops) if snoring is present or if there is rapid weight gain.  Untreated sleep apnea can lead to weight gain because it leaves people feeling more tired during the day.  And when people need a boost of energy, they eat more.  If apnea is detected, I personally recommend avoiding intra-oral appliances that are usually dispensed by dentists.  These can alter your bite permanently and lead to TMJ and other issues.

One more  thing I really wish I had was a record of all our doctor appointments.  Not the actual medical records- though sometimes those are necessary- but rather a journal of visit highlights. There have been times when the number of appointments was overwhelming.  Having a notebook as a place to write down questions in advance with a space left for the doctor’s answer would have been very helpful.  Today, actual medical records can be transmitted with a touch of a button but they are often so structured that I often do not find then that helpful to remember exactly what was said during the visit.  Since LS is rare and unfamiliar to many health care providers, we need to be as knowledgeable as possible in order to ensure we are receiving the best possible care by our doctors  in all specialty areas.

The last thing I wish I did differently is to seek on-going emotional support.  I am not talking about friends or relatives but rather a licensed therapist.  Having a disability and then becoming a parent of a child with the same disability has had lasting impact on my emotional health- a fact that I denied for a long time. Certainly, not all personal problems are related to disability but, if you look deep enough, there might be a connection.   I started seeing a cognitive behavioral therapist earlier this year and it has definitely helped me to better manage my thoughts and feelings.  So, even if you think you have no time for another appointment, seeing a therapist ( for you and/or your child) is possibly the best way to enhance your overall well-being.

 

Mother and Daughter- Same Disability, Different Experiences

Republished by Disabled Parenting Project on July, 25, 2016 in celebration of the 26th Anniversary of the Americans with Disabilities Act (ADA).    Written by Ellen Ladau, this blog was originally published in 2013  on Words I Wheel By, a website/blog  created by Ellen’s daughter, Emily Ladau.

Mother and Daughter – Same Disability, Different Experiences

Even though I am 52 years old, I do not think I have ever spent so much time pondering disability issues as I have since Emily, my daughter, started this blog. The conversations we have had before, during, and after she writes her posts have been illuminating and have further reinforced how her experiences growing up with a visible physical disability have been very different from my own.

A little family history might be useful now. My parents are unaffected by Larsen syndrome (LS); same for my older brother. But I have a younger brother who like me has LS. It was his birth that led the doctors to suspect a genetic disorder. However, once our anomalies were diagnosed as LS, our family was assured it was a recessive disorder. This means that both parents must have the defective gene for the condition to be passed on to a child. Now flash forward to when I became engaged to my wonderful husband Marc: we once again consulted with the same genetic specialists who told us that the gene for LS is so rare that we would not have an affected child. But at my twenty-week sonogram with then fetal Emily, the telltale signs of LS were detected and we knew that our future as a family would again be forever affected. Only then did the doctors realize that the LS affecting my family was really a dominant genetic disorder.

Photo of two women and one man standing behind them. Under photo it says "Mother and Daughter: Same disability, different experiencesI am not going to lie – I was emotionally devastated when I knew Emily would face the same physical and emotional challenges that my brother and I did as children. And truth be told, Emily has had to face even more hurdles and challenging surgeries such as cervical spine fusion when she was 17; she spent much of her senior year in high school in a halo used to stabilize her head and neck while it healed from the extremely risky operation. But incredibly she has matured into a much more positive, confident, and outgoing person than I am. While it would be wonderful to think her Dad and I can take all the credit for her successes, I think we truly owe a debt of gratitude to all the disability advocates who are responsible for the ADA and all the other programs and services for individuals with disabilities that resulted from passage of this landmark legislation. Because of things like curb cuts, accessible bathrooms in public places, and accessible public transportation, people with all kinds of disabilities are much more visible in all our daily lives. When I was growing up, other than my brother, we only regularly saw one other boy with a visible physical disability.

In addition to the benefits of the ADA, the development of the Internet has had a profound effect on how people with all types of disabilities can communicate today. When we were kids, we only knew of one other person with our orthopedic condition and this happened by a stroke of good fortune: I was perusing the TV Guide one day and saw an ad for the TV show ZOOM which was featuring a girl with LS. We had to write to the TV station that produced Zoom to ask that they contact the girl and her family to see if they would be interested in contacting us. They were, and a flurry of letters soon went back and forth. Today, I am friends with this woman on Facebook, as well as being connected with many other people who either have LS or are the parents of an affected child. The ease in which people with all types of conditions can exchange essential information and provide support via Facebook, Skype, etc. makes having a disabling condition so much less isolating.

While there is certainly still much work to be done, as Emily shares in many of her blog posts, having a disability no longer precludes participation in the usual childhood recreations or adult occupations. For example, new playgrounds are being designed to include wheelchair access so all children can interact just as all new public construction projects (and many private ones as well) follow the principles of universal design to maximize the population of people who can enter and conduct the business of daily living. And with the continued efforts of advocates such as my wonderful daughter, the sky is the limit as to what can still be accomplished!

 

 

 

Living Life One Step at a time with the Help of Some Clever Handi-Hacks

The following was published today on The Disabled Parenting Project; this is a great site filled with information and stories from parents with disabilities.  If you have a story or advice worth sharing, the DPP welcomes blog submissions as does the LSRC.
http://www.disabledparenting.com/living-life-one-step-time-help-clever-handi-hacks/

My Epiphany by Beth Bouchard

From a post on Face Book on 6/23/2016
I am 42 years old andhave just had an epiphany. I have always had LS. I have had surgeries and sprains and strains. I have struggled with pain. The interesting thing is that, although I have a disability, I have never felt disabled. I realized this at I was starting a new adventure. I have always loved acting and I am a Drama teacher. I have been out of it for a while. (Taking a break, hanging out with my son, he had some surgeries, I had some surgeries…) I found a great, professional theatre company in my area called Phamaly. They started out as a company who worked with the physically handicapped. They have since branched out and work with actors who have physical, emotional, and cognitive disabilities. I went to an audition workshop and was so anxious. I had been out of the business for some time. Would I be rusty? Also, this was the bigger concern, was I disabled enough? Isn’t that strange? I have had 4 surgeries on my left hip since 2012. I have had periods of using a walker and crutches and wheelchairs. I was in spica casts as an infant. I had constant sprains during puberty. I have no stamina. I was taken out of gym classes because the gym teachers pushed me too hard (Well she walks, why not run her around?) I have always advocated for myself. Am I disabled enough? I had to stop myself from the toddler knee-jerk reaction, when accommodations were brought up. “I don’t need any help! I can do it by myself!” The big epiphany came when I realized that I am disabled. I didn’t feel disabled because it is my normal. I have had to be flexible and have had to make my own accommodations, most of my life. How can it be a disability if you have been forced to be capable? How can it be a disability if you feel normal in your own skin? I have always been like this and I am used to this. How can that be disabled? I have never been ashamed to tell people about LS and how it effects me. How can that be disabled? I think that disabled and handicapped have a stigma. It is somehow associated with being less than. I am equal too or greater than. How can that be disabled? I am excited to start this new adventure. I hope to be cast in Phamaly productions in the future. I hope to learn and transfer knowledge to others. I am not my disability. I have a disability. Whew! Thanks for letting me vent. We all are growing and learning and I am glad to experience new things on the long road I travel. BTW – Check out the Phamaly website. They are doing some great work and are wonderful advocates for all of us!

Figuring Out Life Hacks as a Disabled Parent by Ellen Ladau

13332820_10206723153461899_4619756316314548169_nFirst published by Disabled Parenting Project on 5/25/2016

In 1991, my husband Marc and I brought our newborn baby girl home when she was 9 days old. At the time, we lived in an apartment with several steps to enter.  This was just the first of many challenges I had to navigate as a disabled parent. I was born with Larsen’s Syndrome (LS), which affects all my muscles and joints. The fact that Emily too inherited LS was an emotional minefield that added to my postpartum adjustment. Emily will be 25 this July and I can truly say that parenting her has been the greatest joy to my husband and me but not without many physical difficulties that I’ve had to figure out.

We brought Emily home from the hospital in full leg casts that were attempting to reduce her knee dislocations. In addition to learning the basics of parenting (thank goodness my mom was there to help with the first sponge bath; I truly was terrified) we had to learn cast care. I also had to learn how to manage the basic task of transferring Emily because my knees don’t bend enough to be useful in this task; I need my arms to get up. I had to put Emily down in a safe spot before I could stand.

When Emily was 12 years old, I had hip replacement surgeries, which further reduced my physical abilities. But we have always done what we have to do.  You know the saying: necessity is the mother of invention.

There have been many times when creativity has been needed to solve caretaking and housekeeping challenges.  And these days, I am just as likely to receive help from Emily as I am to give her help with something. As I have gotten older, my physical condition has worsened and I need more help around the house.  I now look at every task that needs to be done and ask if there is an easier or quicker way to do it. We are fortunate enough to live in a very wheelchair-friendly house, accomplished through several renovations. But even if your physical environment is not ideal for your disability, there are many simple and inexpensive ways to make life easier.

I make sure to de-clutter as much as possible. House cleaning is much faster if you don’t have to pick-up knickknacks. And, of course, keeping floors as clear as possible minimizes fall hazards. In the kitchen, I use several methods to make cooking and baking easier. For example, I keep the most common ingredients I use for baking right near my stand mixer. I also keep the most common sized measuring cups in my flour and sugar containers so I don’t have to search through the drawer for them or wash them after I have measured the amount I need. And when I do something messy like cracking eggs into a bowl, the bowl is on a larger plate that goes right into the dishwasher. This way, I don’t have to clean the counter of the inevitable drippy eggs. (One theme should be clear by now: I hate cleaning!)

Another way I make my life easier is to find new uses for common household items.  Kitchen tongs are the hands down favorite in the Ladau household and there is one in almost every room. In order to don my socks and shoes independently, I first need to place a silicone toe separator between two troublesome toes. Because I cannot reach my foot due to elbow contractures, I use a long kitchen tong for the job.  The tongs also work great to pick up the ice cubes that our fridge constantly shoots to the floor or to pick up small items like pens. Of course, we have reaching sticks too, which also can be used in unconventional ways.  I attach a wad of paper towels or a dishtowel to the end if I need to wipe up a spill from the floor.

For me, these seemingly small things help me manage my chronic pain and fatigue and give me more energy to do more fun things. So, I challenge you to really look at your environment.  What are your challenges? Can you think outside the box to come up with a solution? If not, don’t be afraid to ask other people or get creative.

Parenting is universally agreed upon as the toughest job in the world and being a disabled parent is even more challenging at times. For me, being a disabled parent of a disabled child has definitely been a physical challenge, but through little life hacks I’ve made over the years, I’ve found ways to make every day easier.

Life Lessons My Disability Has Taught Me by Brittni Wendling


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First published 5/14/2016 by Odyssey.com

Being different is underrated.
Growing up with an extremely rare condition, Larsen Syndrome, has majority impacted the way I view the world. This condition, which affects the development of bones in my body, basically means that all of my joints are dislocated, and I have no knees. My legs can always be seen sticking straight out, and trust me, it sure is a great conversation starter. Because it is only seen in 1 in 100,000 babies, not many people have heard of someone like me, and I’m proud to have some of the rarest legs in the world. Wherever I go, I never seem to be able to escape my disability, but my condition has allowed me to gain perspective and realize what truly matters in life. Here are some life lessons that my physical disability has taught me throughout my 18 years of life.

Resilience is key.
There are times and challenges that have pushed me further than I ever thought imaginable. Instead of throwing in the towel, I have realized the importance of pushing right back, keeping my head up, and handling everything life throws at me one step at a time.

Looks aren’t everything.
As many other physically challenged people, I have never had the “normal” body type or have appeared exactly as those you see in everyday life. Far too many times, I have wished and prayed to change the way I look to fit in more. I realize now that I accept the way I am, and there are no true versions of “normal.”

Nothing is ever going to come easily.
Everything from the day I was born has taken both hard work and patience, and I have never had the luxury of having things simply handed to me. There are always going to be challenges in everyday life that able-bodied people do not have to worry about, but it is essential to handle these challenges with grace and keep persevering.

Progress takes time.
After a surgery or other milestone, I usually get caught up and frustrated because I want to see results immediately. I jump steps ahead and forget about the time it takes in between these hurdles to heal, recover, and refrain strength. Slowly but surely, progress will be easily seen. It just takes time.

Not everyone will understand or accept me.
This one’s crucial. As much as society likes to preach how it is completely accepting of the world’s largest minority, the disabled community, not everyone you meet will share this same attitude. There have been individuals I have come across in my life who for some reason did not understand the challenges I face daily, and they treated me like I was a completely different species from them. It’s important to remember that this is no where near true and not to let these small-minded people ruin how I’ve come to get to where I am today.

I can’t do everything, but that’s okay.
There are numerous sayings that preach that everyone can do anything they set their mind to, but I can attest to the fact that this is most certainly not the case. By not having knees, I cannot run, kneel, rock climb, ride a bike, or even sit criss-cross applesauce. No matter how much willpower and positive mindset I give off, I will never be able to do these things, but that’s okay.

Accepting myself will always be a lifelong battle.
There are days when I’m feeling good about my progress and all parts of who I am, but there are definitely days when this is not the case. There are days when I just wish I could step out of my own body and life for a bit, take a breather, and be a bit more normal. At the end of the day, it helps me to take a step back and put in to perspective how many other things and people in my life I’m thankful for. This struggle is not something that’s just going to magically go away; it’s something that’s always going to follow behind me.

I can’t count myself out before I count myself in.
I will never know if I can do something unless I suck up my fear and try. There have been many times where I was pleasantly surprised at being able to do something that no one had faith in that I could accomplish. I mean, look how I’ve just finished my first year in college. Adaptation is a beautiful thing.

There are going to be days when I’m frustrated with my situation, but no one will truly get it.
Sometimes, I feel completely alone in my journey and misunderstood in my day-to-day life. There are a lot of situations in my life that even my closest friends and family will never be able to understand what I’m going through of how I’m feeling. This is not self-pity, but it’s hard sometimes to remain optimistic and turn this lonesome feeling around. It just happens. Let it.

Surgery sucks.
All parts of surgery and physical therapy are nerve-wracking and are hard to overcome. Wheelchairs, walkers, crutches casts, and everything else in the medical equipment category just plain sucks. Stress and pain are inevitable, but eventually the hard times pass. End of story.

People will always stare, but it’s not the end of the world.
I used to be really torn up and conscious whenever I’d step (or wheel) a foot out of my house because I was afraid of the staring I knew was going to come from everyone I encountered. I have learned to accept the fact that some are just curious about my disability, while others truly are staring because they have nothing better to do. I have realized how much better life is when I take people’s stares and turn them into motivation to keep setting an example of moving past hurdles in life.

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I need to be my own advocate and accept my life for how it is.
The cards have been dealt, and there is nothing I can do to go back in time and change them. Honestly, I don’t know if I would want to. It’s necessary for me to consistently speak up, voice my needs, spread awareness, and stand up for both myself and others with disabilities.

My happiness and quality of life is most important.
There are always going to be those people who have their opinions about my decisions in my life I make to keep moving forward. I still find it hard to think for myself and continuously make decisions that are best for me and my quality of life, but I’m getting better at it. No one but me knows what I’ve been through and why I make the decisions I’ve made, so I need to keep living for myself and no one else.

Being different is underrated.
I’m usually looked at with sad expressions and approached with pitiful remarks of how strong and inspirational I am for living my daily life. However, I do not always think of my disability as a negative thing. I like being different. There are some perks, such as front-line cutting at amusement parks and concerts. Also, free parking is always a plus, am I right?