It has been a busy month for Rare New England (RNE) as it has been for many in the Rare Disease community.

Rare New England (RNE) looks back at 2024 in awe of this community and how much we have accomplished together.

According to the NIH, over 25 million adults and children are living in the US with one of 6,500 different Rare Diseases​ (1).

Newborn screenings can help identify conditions shortly after birth that may otherwise be unidentifiable at that age.

 A genetic counselor is a master’s level medical professional who specializes in medical genetics and psychosocial counseling.

What is the goal of a patient registry? What are the pros and cons of joining a patient registry for a patient? What questions should a patient ask before joining a patient registry?

Rare-disease patients and families have endured unfortunate outcomes and awful experiences within the health care system.

In spite of the many breakthroughs in medical science over the years, a great deal remains unknown. A patient falling into the category of having an "unknown" medical condition may feel in limbo…

This is Mitochondrial Disease awareness week. As such, I’ve interviewed my close friend and fellow volunteer, Melissa Hoyt. Melissa has lived with Mito since childhood and has a unique perspective to share with us.

We want you to keep inviting us to things! It may seem like we must cancel plans often, but we still want to be included in them. We cannot predict when our “good” and our “bad” days are, so it’s difficult to commit to plans.

Ehlers-Danlos Syndromes are a group of 13 different inherited connective tissue disorders.

When I think about my uncle David I think about all of the fond memories we shared. He had a huge heart, he was thoughtful beyond measure, he had a child like wonder …

COVID-19 has presented unique challenges in health care for the rare community. We have faced a myriad of difficulties over the last year due to this novel and deadly virus.

Tuesday’s can be tough. I know, you’re probably thinking “No way! Monday’s are the worst!” Other’s are commenting “No, it’s Thursday, so close to the weekend but not quite there yet. Even still some are arguing “No, it’s Sunday because you know Monday is right around the corner.”

When I was a kid my Mum used to say "the right kid got diabetes," My sister was a rock star in my eyes with her illness. At the time I was absolutely terrified of needles.

The line in DreamWorks Animation Movie “Home” where character “Oh” voiced by Jim Parsons says, “Can I come into the out now,” sums up pretty perfectly what many medically complex families are feeling right now.  

Self-care looks different for every person. Sometimes people talk about self care like there is a “right” way to do it, but there really is only what is right for you. It is about doing what feels good for your mind, body and soul.

There’s a term in crochet/knitting called “frogging” this is the practice of intentionally unraveling. Occasionally there comes a time when you become stuck, it doesn’t look right, doesn’t fit right, it just doesn’t make sense, so you “frog it.”

No matter who you are or what your life is like, chances are you’ve longed to connect with someone who can understand you. Whether you’re passionate about a particular hobby or the parent of a certain-aged child, there is no feeling like the one you have with others who share your situation.

Time is something that a parent of a medically complex child learns very quickly not to take for granted. The time spent waiting, praying, and preparing. The time that seems to tick endlessly slow or faster than you can blink.  Being a mother and raising these tiny humans there are great milestones to mark how they grow and change.