Advice For Managing Life With A Rare Disorder

Curated by
Whitney Bailey
Content via Larsen Syndrome Resource Center
Larsen Syndrome Resource Center
Curated by
Whitney Bailey

Ellen Ladau and her daughter Emily both have Larsen Syndrome. Read below as Ellen gives tips on how she manages life with a rare disorder.

Ellen and Emily both seated in wheelchairs

“Be your own (or your family members) advocate.”

Get Organized

It’s important to be organized for your doctor’s appointments. Ellen suggests to get a large binder with dividers and make a section for each healthcare provider you see. “Many providers are giving visit summaries upon checkout 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 Records and Events 

Ellen advises keeping track of medical events by summarizing each important event. “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,” she says.

Don’t Go It Alone 

Ellen suggests taking someone with you to each appointment. “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 healthcare professional is saying,” she says.


Ellen states to try and be extra friendly to support staff because they are the ones who will relay your message to the doctor in a timely manner or get you a sooner appointment. You may even ask for your doctor’s email address for a more effective way of communicating. “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,” says Ellen.

“No one knows why you or your child needs something better than you.”

Take Initiative

Ellen suggests a few ways to “do your part.”  For example, keep up to date with new medical/genetic information and relay it to your doctor as soon as possible. If you feel comfortable, Ellen even suggests writing your own letter of medical necessity for things to be covered by insurance and having your doctor look it over to make sure it meets their standards. Ellen states, “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.”

Be Realistic 

Ellen’s last pieces of advice are to trust your gut and 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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