Tags » Rare Disease

Climbing Out of The Rare Disease Cave

They had called me to ask if I would be a contact person and offer support to parents who had been given a diagnosis of Osteogenesis Imperfecta. 697 more words

Spiritual

A Place to Teach Old Drugs New Tricks

Due to popular demand, former blog guests Bruce Bloom, and Clare Thibodeaux from Cures Within Reach have returned with another post. This time, they explain how they bring researchers, older drugs, and new funders together to come up with new solutions for patients. 753 more words

Health & Disease

Keep Looking

The single most important piece of information I want to share with all new parents managing their child’s rare disease is this: never stop looking for answers. 243 more words

Parenting

The elusive cure

This is the text of my 2016 Stanford MedicineX Ignite talk.

An estimated one in three hundred thousand to one in a million people are born with Moebius syndrome.

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Stay Gold.

Don’t meet others expectations for you. Don’t expect anyone’s understanding towards your suffering, and do not apologize for your pain. Do set your own goals, and meet your own expectations for yourself despite what society wants for “you.” Do feel your pain, acknowledge it, and do not hide your suffering. 50 more words

Pulmonary Hypertension

Important Article: How Government Quality Guidelines Hurt Transplant Patients (Forbes)

I knew I’d end up commenting on this opinion piece when I spotted it in a Google alert.  I’ve heard professionals talk about this & knew it came into play, but didn’t realize the impact until very recently. 177 more words

Blog Entries

Didn't your mama teach you manners young lady???

Today was the day that I made myself sit down and do something I have put off for weeks.  It was something that I have dragged my feet on until I could drag no more.   647 more words