5 Ways Our 'Rare' Family Is Practicing Gratitude This Thanksgiving

Thanksgiving is upon us, and we definitely love celebrating during this time of year. Our family views it as a time to come together and reflect on the blessings of the last year. 2018 has not been the easiest year for our family, considering we received a diagnosis for our daughter, Taylor, which explained her significant developmental delays. Despite that, we are trying to approach life with thankfulness and gratitude.

As we reflect on this year, our family is thankful for:

1. Progress.

Taylor has made tremendous developmental progress over the last several months. She is finally mobile and crawling all over the place. Her understanding and receptive language seem to be expanding every day. She is running in her walker and continues to surprise and amaze us.

2. A diagnosis.

Taylor received a diagnosis this year of PURA syndrome, a rare genetic condition which affects less than 250 individuals worldwide. For some, this might have been difficult news, but in many ways it was a relief for us to have an answer. We knew her developmental delays were significant, and at least we now have some direction.

3. Our tribe.

In the aftermath of receiving Taylor’s diagnosis, we were incredibly thankful for our family and friends. Everything from the briefest of texts, long conversations over a hot tea, a warm meal delivered to our door, donations to the PURA Syndrome Foundation, and offers of personal financial support reminded us of how much our family is loved and how lucky we are to have such amazing support. Our tribe has also expanded since receiving this news. We have connected with other PURA families all around the world and other families affected by rare disease in our community. Being able to connect with others in similar situations has been extremely meaningful and helpful.

4. Awareness.

My eyes been opened to a segment of the population that is largely underserved and unrecognized: the rare disease community. Did you know that a rare disease is classified as “rare” if it affects less than 200,000 people? There are more than7,000 rare disorders. It is estimated that one in 10 people in the U.S. has a rare disease. Alone we are rare, but together we are strong. We are in fact, not rare at all. Rare diseases are responsible for 35% of deaths in the first year of life, and 30% of children with rare disease will not live to see their fifth birthday. According to the EveryLife Foundation, 95% of rare diseases have no FDA approved drug treatment, and about half of all rare diseases do not have a disease-specific foundation supporting or researching their rare disease. Not to mention, this community faces discrimination due to disability, difficulty accessing care and financial assistance, and frustrations within the educational system, among other things. We are grateful to have been made aware of the rare community’s needs and we are motivated to draw awareness to these issues and create opportunities for connection and support in our rare disease family.

5. Loving what is.

Our daughter continues to teach us how to be content in our circumstances. We challenge her each day, but she teaches us how to set aside the expectations of the world and just be. When I find myself putting too much pressure on myself or her, I have been intentionally challenging myself to slow down, have a bit of compassion for myself, and just enjoy my daughter for who she is and appreciate how far she’s come.

What do you give thanks for during the holidays? How do you personally remain thankful during difficult times?