Resources & Articles

Alzheimer's disease is a progressive, degenerative brain disorder that causes problems with memory, thinking, and behavior. The earliest symptoms of Alzheimer's usually begin to appear in people in their late 30s or early 40s, but because they are often mistaken for other health conditions, they may not be noticed. As the disease progresses, it becomes increasingly difficult to diagnose and treat accurately.

Mental health is becoming a greater part of the conversation among the rare disease community and its supporters.

Those first few hours were tough; we were asking questions nobody could answer because MMA is rare.

I believe that advocates are quintessential parts of the ecosystem for change because they inform lawmakers and health leaders of outdated policies and healthcare priorities.

Dr. Kimberly Chapman of Children’s National Medical Center sat down with AllStripes to discuss how she became an expert in MMA and PA and how de-identified data from medical records and the JUMP study will contribute to the MMA and PA research landscape.

You have to do what you can while you can because in the future it’s going to be more difficult.

The artist Bukky Adeyokunnu explains their photography’s relationship to living with sickle cell, in two videos set 9 years apart.

Our parents wanted us to feel "normal," but we didn't feel normal at all.

Read the results of our Distance to Care survey for patients with lysosomal storage disorders.

Since getting a diagnosis of Klippel-Trenaunay syndrome at 27, I’ve been able to better advocate for myself and others with my condition.

Little did I know that my inability to swallow was the beginning of a myasthenic crisis that would threaten my life, realign our world and keep me hospitalized for nearly seven weeks.

My interest is in remembering how afraid I was being in the hospital and not having a single person that I could talk to that understood what I was going through. That's why I've stayed connected.

Living with a rare disease brings you to a doctor’s office more than the average person. To make the most of your time with your doctor, it is important to be prepared, listen, and speak up in order to build rapport with them. Here are my five tips to help you do this and improve your next doctor’s visit:Take notes. When talking to a doctor, it is easy to nod and agree with everything they are saying. It may all make sense at that moment, but the second you leave the office, so much information is forgotten. Taking notes on your phone or in a notebook helps ensure you have all the information to look back on if you forget what is discussed.Organize and keep track of your medical records. Having your records and imaging readily available, especially if you are seeing a new doctor, is extremely helpful not only for the doctor, but also yourself. Doctors will want to review your history, but you yourself may want to review your records to mark down how you physically feel and compare them to the actual testing. Programs like PicnicHealth’s Timeline make it easy to integrate your medical records between all your doctors (PNH-related or not), hospital visits, lab work, etc., and keep them readily available in one place.Keep a running list of questions between appointments. Whenever a question pops into your head, write it down! Bring that list to your appointment in whatever form is easiest for you; write them out, keep them stored on your phone, or even print them out so you can write the answers next to each question as you ask your doctor. Listen to your doctor, but remember you do not have to be a silent participant. Try to make sure appointments feel like a discussion rather than a one-sided lecture. Don’t forget, it’s your health, and no one knows your story better than you do.Stay informed. You are your best advocate, staying informed about PNH news is a great way to understand the disease and any opportunities you might have for new treatments. There are also low-effort ways to participate in PNH research with observational research studies. PicnicHealth is a great platform for both understanding your medical history and contributing to observational research.Don’t be intimated. Your doctor may have extensive education and multiple degrees, but don’t be nervous around them, they are humans too, and are there to help you. The more relaxed you are, the easier it is to open up and give them the information they need to give you the best care.

We are excited to launch a new Lupus Nephritis real-world data research cohort that arms researchers with powerful data to support clinical research programs and drive evidence generation now and into the future.

Collaboration is key, and that's what we need more of in research.

Hollywood hasn’t always made an effort to depict rare disease on screen, and when it has, the results have been mixed.

If contributing my medical records to research can help someone else with wAIHA someday, then that’s wonderful.

With that, I’m very happy to share that PicnicHealth has raised a $60m Series C to build the deep, complete, and clinically-rich real-world data sets needed in 30 new diseases. As always, we’ll do this by partnering directly with patients to give them control over their own data.

Listen to our audio conversation with a YouTuber impacted by ALD, or adrenoleukodystrophy.

Read the results of our COVID-19 healthcare impact survey.

‍Caregiving for a loved one with Alzheimer’s is a difficult journey that millions of individuals in the United States are forced to tackle. Part of that caregiver journey usually includes managing your loved one’s medical care, including their medical history, prescriptions, and more. Having access to your loved one’s medical records is critical in being able to advocate for your loved one and manage their care. ‍Jennifer Fink, who is caring for her mother with Alzheimer’s, shares her struggles with accessing medical records and how having them would have made a difference in her mother’s care.

Reading through my dad’s ALD-related medical records helped me paint a much clearer picture of what my family went through all those years ago.

Wunmi Bakare and Teonna Woolford are two Black women with unique approaches to sickle cell advocacy. Wunmi focuses on erasing the stigma of sickle cell disease through proactive engagement with the media, and Teonna fights to end the disparities in sickle cell reproductive health.

James and Andrea discuss living with a PIK3CA-related overgrowth spectrum diagnosis and isolation, the power of contributing medical records to research — and what adults can learn from kids’ reactions to physical differences.

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.

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.

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

Hear the story of a real PicnicHealth user, Maegan, and her experiences as she has recently received a diagnosis of paroxysmal nocturnal hemoglobinuria and is now living with a rare disease and constructing a new normal.

Hear from a real PicnicHealth user, Maegan, and her experiences living with paroxysmal nocturnal hemoglobinuria as she continues her journey and finds peace with her diagnosis and raises awareness for the rare disease community.

Years of systemic racism have prohibited or limited the ability of many Black individuals from obtaining a medical education. For Black patients and families impacted by rare disease, seeking health care professionals who are also Black can be uniquely challenging.