Stories about: undiagnosed disease

Palliative care: Not just end of life care

Hillary and EsmeMy daughter Esmé is a four-and-one-half-year-old girl who loves listening to “The Muppets Movie” soundtrack, laughing at silly jokes and reading books. Esmé has been a patient at Boston Children’s Hospital since she was 8 months old, when she started seeing the Aerodigestive Clinic for chronic aspiration. She is followed by a number of specialists to treat her epilepsy, low tone, kidney and heart abnormalities, developmental delay, poor growth, lack of verbal communication, among other things. Esmé is presumed to have a genetic disorder, but, so far, she does not have a clear diagnosis.

Last week I had an appointment that I was both really looking forward to and dreading, simultaneously. The appointment was with Pediatric Advanced Care Team (PACT) at Boston Children’s. They are the group who does palliative care there.

Now, I know that most people hear “palliative care” and think very specific things about end of life care.

I did, certainly.

And, frankly, my associations with palliative care were enough to make me not want to have the meeting with them in the first place.

However, we have reached that place in Esmé’s care where, while she much more stable than ever, there are some roadblocks that affect her (and our family’s) quality of life. Several of my mom friends who also have children with similar needs suggested that it might be time to talk to palliative care.

I said, “No. Absolutely not.”

Palliative care and stress relief

But, after my knee-jerk reaction, I thought it might be smart to see if my understanding of palliative care was, in fact, accurate. And it wasn’t. Palliative care is “specialized medical care for people with serious illnesses. It focuses on providing patients with relief from the symptoms and stress of a serious illness. The goal is to improve quality of life for both the patient and the family.

Wow, right? Obviously Ez has a serious illness. And, I’m sure this will surprise all of you, but there is stress (oh, God the stress …). While palliative care can be a method used in conjunction with end of life concerns, it is fundamentally focused on living–living happily and comfortably despite on-going serious health challenges. And, because we are in this for the longterm, it seems like improving Esmé’s quality of life–and the quality of life of our family unit–is sort of a no-brainer…

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Reid’s story: Living life undiagnosed

boy_looking_out_at_sea_shutterstock_153551273_640x360Your child is sick. You bring her to the hospital or the doctor, and a few tests later you have a diagnosis. Whether it’s a simple condition or a complex, chronic disease, you now know what to expect.

Unless the tests don’t give a straight answer. Maybe they come back with conflicting results. Or some of your child’s symptoms match one condition, the rest another, but don’t strictly match one or the other. What then?

This scenario is more common than you might think. Some 30 million Americans suffer from rare disorders, and many never receive a diagnosis. They live in the gray area of undiagnosed diseases, a broad term that includes patients of all ages with a wide variety of conditions that can’t currently be defined.

And it’s been the story of Reid Michaelson’s* life from day one.

“When he was born, I looked at him and told the nurses, ‘Something’s wrong,'” says his mother Amy*, who’s a nurse practitioner. “He was twitching oddly, and just not normal, but they dismissed it.”

Nine days later they were on their way to Boston Children’s Hospital.

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