Because I have Klippel-Trenaunay syndrome, maintaining a social life can be hard. But I’ve learned that concealing parts of myself is even harder.

I can’t imagine how parents without medical training take care of children with ALD.

“Instill confidence in him by letting him know he can do and be whatever he wants no matter what.”

Families impacted by rare conditions may see their own experiences reflected back.

For me, undergoing a controversial treatment like limb-lengthening was another opportunity to use my voice.

PicnicHealth will present the “The Empowered Patient: Driving individual and population health with data & technology” at ISPOR 2022

I’m traveling new paths, navigating the intersections of my past and present selves.

Two brothers reflect on being diagnosed with Fabry disease at 15 and 19, entering adult care at young ages and the urgent need for mental health support.

When you are born with a rare medical condition, you are faced with endless appointments with various doctors trying to help with the physical nature of your condition. However, I’ve found that doctors rarely seem to mention the psychological effect of what living with a rare condition can bring — especially if your condition makes you look visually different from the average person.

There’s no perfect way to handle people’s reactions to physical differences, but over the years I’ve developed a few techniques.

The issues with support for young people and for anyone with a rare disease are clear. When help is needed it is usually needed immediately.

Sadie hasn't really regressed as much as most kids her age with Sanfilippo, but the more therapy, the better.

When we ask Gabby, “You want to do a TikTok?” she smiles and gets happy.

Michael Patterson turned his passion for coaching football and mentoring into an effort to combat the effects of sarcoidosis.

After our daughter was diagnosed with Kabuki syndrome, we were given outdated educational material. I don’t want that to happen to anyone else.

The #RareSnapshots that drive our work all year round.

After my daughter was diagnosed with MELAS and Leigh syndrome, our family decided to embrace doing fun activities and taking pictures to remember it all.

It’s perhaps my greatest honor that while I lost Graham physically, I carry him every day to work with me.

Danielle and Michelle of Love Never Sinks discuss how information gathered from the previous generation of children with Lesch-Nyhan syndrome is helping families today.

Three men from the rare disease community discuss the importance of mental health support.

Getting diagnosed with Fabry disease was a relief in some ways — to know that there was actually something wrong.

I hope my debut TV appearance will raise awareness, encourage research and remind everyone that people with Kabuki syndrome should follow their dreams.

Seeking care for a rare condition, which often means having few options to begin with, can make this even more challenging.

Data completeness is essential to real-world data (RWD) quality. In this infographic, we will explore how data completeness is defined and improved.

Families who have felt the devastation of MLD want to help, and participating in research is one way to do that.