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.

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