Ariana’s Journey to LS

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My name is Ariana and I am 22 years old. I have a very mild phenotype of LS.  I was born as a big, healthy baby with no obvious abnormalities and, apart from spending a few years as a severe asthmatic and being clumsy and injury prone, I was a relatively healthy child. There was at one point a concern for my skeletal health which lead to a full body X-ray that discovered additional bones in my wrists; it was assumed that this was just because they had yet to fuse. I ice skated as a small child and was always too clumsy to be much good, but I was able to become quite competitive in 4-H horse showing which I continued doing until I aged out. I even made a little money training horses.

My LS was unrecognized until my senior year of high school when I tore both my ACL`s in the space of a couple months just going about my daily life. This would be the prelude to a handful of other ligament tears sustained in falls. This was worsened by my increased drive to be active when I went to college, I wrestled until it became obvious that I would keep sustaining injuries if I continued so I switched to powerlifting. By the time of my junior year of college it become obvious that my hips and shoulders were remarkably hypermobile. Also, ,I I started to experience random joint aches which remained even after I gave up lifting. After my rheumatology panel   (for autoimmune disorders) came up negative,  my primary care doctor told me to “pick a joint” so she could send me to an orthopedist. I picked my wrists, which were stiff and increasingly painful.

This was a good choice as my local orthopedists thought at first I had Keinbock`s disease  ( see below) based upon my X-rays.  When an MRI reveal even more additional bones the orthopedic office was even more  baffled by my skeletal abnormalities.  Even a group of orthopedists with a combined 40 years of experience consulted “Dr. Google.”  Based on my X-rays, MRI, and overall appearance, LS was suspected.  I was referred for genetic testing at the closest Mayo Clinic location, where I was tested for a battery of bone dysplasia, and- lo and behold- the specialists back home were right.

This news was incredibly troubling for my parents who both searched their family histories for anything that looked like Larsen syndrome.  They eventually chose to get tested to ensure that the family had the best possible genetic information. I was sure form the start that they would both come back negative for LS and indeed they did.  I`m the oldest of my three siblings. However, I`m the only member of my family that has Larsen syndrome; The mutation of the FLNB gene associated with LS only affects me.

It seems that for LS a diagnosis offers more of an explanation rather than  a specific treatment plan or guide for living.  That said, I`ve been more careful ( cutting out activities that could result in me getting hurt where possible, wearing braces on my knees and ankles when I do risky things, and doing a nightly physical therapy routine.)  These steps have worked to reduce my pain in most places, and have prevented me from tearing more ligaments -which is much appreciated. Perhaps the ironic thing is that diagnosis has not helped figure out how to manage my wrists and hands which have been steadily worsening. They remain painful, but they have also become remarkably stiff, numb, and weak when gripping things which makes activities like standing from the ground and holding utensils difficult.  I also have carpal tunnel but, in clinical tests,  there seems to be more going on as I don`t get the tremors characteristic of carpal tunnel and my symptoms are not clearly specific to carpal tunnel. . The current guess is that there`s some unique interaction between my wrist bones, tendons, and nerves; this sounds quite reasonable to me, but does not provide a clear treatment path. It would be very unfortunate if this were to continue progressing as I`m not sure how I would  live my life without useable hands ; they slow down my ability to work and do school work.  Currently I am a student at the university of Arizona working towards a dual degree in CIvil Engineering and PPEL (philosophy, politics, economics, and law). I work at my county`s wastewater department proofing the model of our sewer. It may sound silly but, I really like my job; I honestly feel that working in sewer maintenance and infrastructure is noble work. It is the work of the civil engineer to make cities liveable. After graduation I`m, not sure if I want to work as an engineer or go to law school and work in resource or environmental law.

Other than my studies and work , I still care for and ride a horse. I have a great boyfriend and dog who accompany me on fantastic road trips.  The photo below is  of me on our roadtrip  to the petrified forest. I have friends and family who I love and who love me.

I`m still figuring out what the future is going to look like. For me it is  weird that a condition that has only recently become a problem for me causes symptoms in most people who have it as newborns. On the one hand I count myself lucky for my asymptomatic childhood, but now I`m in a situation where I need to change my expectations for my own physical abilities. I always assumed that I`d be able to go back to weight lifting after I got a handle on my health, but now this is not a reasonable goal. I feel strange having to learn to be cautious in my early 20`s. Two years ago I was going to the gym to flip tires and lift weights for hours every week day.  I still sometimes have the mentality of a teenager who doesn’t believe there are things you can`t do, and I now  have to balance that with the knowledge that if I`m having a bad day I could seriously hurt myself going up a flight of stairs or walking on a flat sidewalk.

Kienbock’s disease, also known as avascular necrosis of the lunate, is a condition in which the lunate bone, one of eight small bones in the wrist, loses its blood supply, leading to death of the bone. The lunate is a central bone in the wrist that is important for proper movement and support of the joint.  I do not have this disorder.

Jonathan Klein’s Story

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My name is Jonathan Klein. When my mother was pregnant with me, it was unknown whether I would have the same physical abnormalities as my older sister.   I was born in March of 1965 with similar orthopedic disorders as Ellen ( multiple joint dislocations). I underwent two surgeries after my birth to perform bi-lateral open reductions on my knees.   Our family  did not learn until 1972 that our condition was called Larsen Syndrome.

Growing up, I used mainly long-legged braces. When I was 18, the doctor felt that I had stopped growing ( I am 4’8″)   so only needed to wear the braces for things like distance walking. Given that they were uncomfortable and the doctor felt they were not really necessary, I went through most of college without wearing them.

I attended Carnegie Mellon University and completed a double major in Applied Mathematics and Industrial Management in 1987. Upon graduation, I started working for Oracle Corporation and have been working there for the last 31.5 years. I have held various positions within the company, most recently working as an architect for the System Management Products team.

I got married in June of 1997 to my best friend Robin, and together we adopted our daughter in 2003. We resided mainly in Northern California until recently when we relocated back to our roots of the northeast in 2016.

My hobby is woodworking. I had a shop in the basement of our home in California where I built small furniture pieces. I stopped for a while due to increased leg pain. Now, in New Hampshire, I have a shed for my projects.  Using a wood lathe, I focus on smaller items such as  small bowls, vases, and goblets. My wife calls me The Armchair Woodworker. You can see my wood turnings at: https://jonathanswoodworking.shutterfly.com/

In 2005, I was diagnosed with Hairy Cell Leukemia, a chronic Leukemia. I was treated with chemotherapy in 2005 and again in 2011. The leukemia, we believe, is likely the result of the amount of radiation exposure I received as a child from the number of x-rays to study my body. My sister has never had leukemia.  The amount of radiation exposure with today’s x-ray technology is significantly lower so the risk is much  smaller. Currently, I am in remission.

 

Do What Works Best for You

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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

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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”

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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

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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

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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!

 

 

 

25 Secrets of People with Chronic Illnesses

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Although LS is not classified as an illness but rather an orthopedic syndrome, there is  still a lot that might resonate with you- if you are the one with LS or  if you are the caregiver to someone with LS –  in this article by Elisabeth
Brentano that was published on 2/11/16 on the website The Mighty:

http://themighty.com/2016/02/secrets-of-people-with-chronic-illnesses/

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

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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/