NLRP12.com's blog with news, updates and comments on all things rare and autoinflammatory

Humane Resources: Funding Restrictions in Rare Rheumatic Diseases

As any rheumatologist knows, most non-medical individuals don’t really know what ‘rheumatology’ is. Not so much of a bad reputation, as no reputation. Relatives and […]

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Rare Disease Clinical Development: The Crucial Need for Patient and Parent Involvement

LuAnn Sabounjian, Head of Clinical Operations & Drug Safety, PROMETRIKA, LLC Rare Disease Clinical Trials February 28th, 2017 was the tenth observance of Rare Disease […]

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Living with a rare disease: a husband and father’s perspective

What does rare disease mean to you? To me, rare disease means a mutation called R1016X in a gene called NLRP12 on my son’s and […]

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Global Genes® to Convene RARE Partnering and Investor Forum to Accelerate Drug Development for Rare Diseases

[Aliso Viejo, CA] May 19, 2017 – Global Genes®, a leading rare disease patient advocacy organization, will host the inaugural RARE Partnering and Investor Forum, […]

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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. New paper from Orphanet J Rare Dis. 2017 Apr 11;12(1):68. doi: […]

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“I had a physician tell me that I know my body better than anyone, so, if I see a specialist or someone that doesn’t seem to be listening, I should move on until someone hears me. Best advice EVER!!!” — Julie Sullinger

“We are going on six years of not knowing a diagnosis. Genetics knows it’s something but no test has shown anything. Don’t give up and don’t lose faith because genetic testing is improving every day. More information comes out daily on different genes. Just hang in there.” — Ashley Barnett Stone

“Seek and find … your diagnosis, your daily life that works, the answers you need and joy in the every day. My mom started looking for answers for me at age 9. I wasn’t properly diagnosed until I was 40. I heard many misdiagnoses, including some very hurtful ones, and I’m a medical professional who thought I could navigate the system. Be true to yourself, maintain your own records, use the internet wisely, build your own tribe, and be graceful to yourself. Know yourself and listen.” — Kristy Wrobel Gibson

“Keep in the front of your mind that this is the beginning of a road to get answers. I know how we want them right away. But these are all steps that are teaching you valuable lessons and skills. Continue a log of episodes so [that] in between appointments you have all that information to help piece the puzzle together. You can do a simple, small notebook that you can keep in a diaper bag and keep notes in date order. What episodes look like, maybe what your child is doing just before and after, how long it lasts — any detail is great. Seek genetic testing, but keep in mind that sometimes that’s a slow process as well. You are putting a team together. Keep looking for all the pieces that fit and don’t be afraid of change.” — Kathy Brown

“Video or photograph everything that seems abnormal to you if you can. That was the only way I got a diagnosis for my son, as they didn’t believe he had issues from the 2 minutes they spent with him in the doctor’s office.” — Natasha Roys

“Seek another opinion, and another, and another … don’t give up. Talk to people in the rare disease community and see if anyone has any type of connection that may help you, we are all connected in this rare disease space and rare disease advocates are the most amazing, unstoppable people I know!” — Julie Garabedian Cunningham

“Never give up, as tired as you may get. I was nearly diagnosed at 14, but then officially diagnosed [at age] 47, over 33 years later, because of a young locum doctor who saw me as a whole person, not just a set of symptoms. She correctly guessed a lysosomal disease, albeit the wrong one, but set the right wheels in motion to diagnosis and even treatment! Sometimes a fresh perspective can make all the difference. My disease is ultra rare, but I’ve found a great community online, and now I feel in control.” — Julie Garfield

“For parents of young children, find and connect to state and community resources of early intervention as soon as possible. I feel that this supported my son’s development even before we knew the cause of his delays.” — Leah McKenzie Lewis

NLRP12.com's blog with news, updates and comments on all things rare and autoinflammatory

Humane Resources: Funding Restrictions in Rare Rheumatic Diseases

Rare Disease Clinical Development: The Crucial Need for Patient and Parent Involvement

Living with a rare disease: a husband and father’s perspective

Global Genes® to Convene RARE Partnering and Investor Forum to Accelerate Drug Development for Rare Diseases

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Drug Costs

Living with a rare disease: a husband and father’s perspective

A Nuanced Message: Marketing to the Rare Diseases Community

A New Gene Therapy Cure Just Treated Its First-Ever Patient

Big Pharma Losing Leverage as Payers Raise Pressure on Price

NLRP12.com’s 2017 Scottish Council Manifesto released

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Humane Resources: Funding Restrictions in Rare Rheumatic Diseases

Living with a rare disease: a husband and father’s perspective

We must act as England falls behind on access to rare disease medicines

Three new medicines cleared for use by NHS Scotland

NLRP12.com’s 2017 Scottish Council Manifesto released

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