Rare isn’t really all that rare….according to the National Organization for Rare Disorders (NORD) 1 in 10 people live with a rare disease, and this does not include the millions, living with an undiagnosed, rare condition. About 7,000 rare diseases have been identified and advances in genomic testing are finally allowing us to identify and discover new conditions. However, the journey does not end with a diagnosis. The fight for appropriate medical care and services is ongoing in the rare disease community. Here, we highlight nine of the most significant issues affecting the rare disease community (and as you will see, one thing can lead to another):
Not sure how to support your loved one who has a child with special needs? You are not alone. Most people are unsure about how to respond to a family when they receive a potentially devastating diagnosis. You may not know what to say or how to help. You may feel the relationship growing distant and not know why. Although you may feel uncertain about what to do, there are many ways you can support a parent of a child with special needs, and let me tell you, we NEED your support….now more than ever.
We have all experienced it.....you are having an eventful shopping trip to Target (one where you claim you are going to buy sunscreen, aaaaand $175 later.....) You have cleared out the store and are waiting patiently in the check-out line. You look into your shopping cart and see your child staring, aghast at a person in a wheelchair and then loudly proclaiming, "Mommy, why is that boy drooling?!"
What IS PURA Syndrome anyway? As we speak, researchers are attempting to learn more about PURA Syndrome; however, here are a few things we know about this rare genetic condition.....
You see, we can not be strong and brave without feelings of fear…..one does not exist without the other. The very definition of bravery is the “quality or state of having or showing mental or moral strength to face danger, fear, or difficulty,” and strength only comes when we push ourselves beyond what is comfortable.
This song has been stuck in my head all weekend. Even though it was written in 1834 by Edward Mote, the words are timeless and still relevant today. Mote knew what it meant to misplace trust and hope into "the sweetest frame…..
This quote really speaks to me and resonates with our family’s journey raising a child with special needs. I truly believe this pertains to ALL children but is particularly meaningful to parents raising children with various disabilities and medical challenges. There is a science and an art to gardening. Some flowers need lots of sunlight, while others thrive in the shade. There are certain flowers that are resilient and hardy and need very little water or care, whereas others need to be watered daily and require plucking and pruning.
Writing this post is really difficult, because it plays to one of my worst fears as a parent of a child with special needs. The timing is ironic, as I literally just sat with a friend in a coffee shop over the weekend and shared this fear….that my daughter, Taylor, will be treated poorly or subjected to verbal or physical abuse, and that I will not know about it. Every parent fears this, but it is most concerning to me because my daughter is nonverbal. She would have no way of telling me what happened.
One year…..One year since we received the call that would firmly change the projected path of our lives. Early in the morning on January 11th, 2018, we received answers for our daughter’s developmental delays. PURA Syndrome - the first time I would hear the name of this rare genetic condition. Knowing provided answers, and a community, yet also leaves us with many questions, as is the case with most rare diseases.
I started this blog in May of 2018, about four months after Taylor was diagnosed with PURA Syndrome, a rare genetic condition affecting approximately 200 individuals worldwide. I wasn’t really sure what I wanted to do with it at the time, but I knew I wanted a quick way to update the many people who are very interested in Taylor’s life, and also wanted to bring awareness to my daughter’s condition and other rare diseases.
Chick-fil-A, would you like a review of a recent experience at one of your restaurants? It would be my pleasure! Anyone who dines regularly at a Chick-fil-A is well aware that these folks know how to provide quality customer service. It’s a bird, it’s a plane….NO, it’s your local Chick-fil-A worker!!! Chick-fil-A sends people into the rain and snow to cut down on your drive-thru time, they will walk your food to your table and bring a high-chair for your child, they will ensure you have ample sauce, straws, your beverage is never empty, and your trash is cleared, and respond to your expression of thanks with a cheery “my pleasure.” They are pretty much A-M-A-Z-E-B-A-L-L-S!
Last, but not least, here is a list of some of our favorite toys to promote standing and walking. Check out some of our other recommendations to encourage tummy time, sitting, and crawling. Taylor did NOT enjoy standing for a long time. I think she felt extremely unstable and she tends to be a bit cautious in general These particular toys kept her engaged and interested while in standing and really motivated her to be on her feet!
We’ve covered our favorite toys for encouraging tummy time and sitting, and now we move on to crawling. Crawling requires significant strength and coordination, as well as the ability to plan and execute movement, also known as motor planning. Crawling is going to improve core strength and postural control, as well as strengthen muscles in the shoulders, arms, and hands.
It will take several months to build up the strength and coordination for your little one to sit. I was so excited when Taylor was able to sit up (even propped) as it seemed to give her a new view of the world and she became even more engaged. The items that will be listed below were particularly helpful for us as Taylor made the transition to sitting independently.
I have received a few requests to share some of our favorite toys for encouraging gross motor development. As a result, I’ll be doing a series of posts over the next week highlighting some of our favorite toys! The options below will work well for neurotypical children, as well as children with developmental delays.
Thanksgiving is upon us!! We love 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, but despite that, we are trying to approach life with thankfulness and gratitude.
Did you know that gratefulness is correlated with life satisfaction and happiness? Those that take time to recognize and express thankfulness are less likely to experience depression and anxiety, and more likely to report general feelings of happiness and well-being.
I’m so proud of my girl! Taylor recently turned three years old and we had an amazing time celebrating her third birthday with family and friends. If I am being completely honest, this is the first of Taylor’s birthdays where I felt truly celebratory. Taylor’s first birthday was not a particularly joyous time for me.
As Hurricane Florence, one of the largest hurricanes to hit the Carolina coast, inches closer to Charlotte, NC, it is obvious there will be record rains and catastrophic flooding in certain parts of the Carolinas. Big storms always remind me of Matthew 14:22-33:
My husband and I recently decided we wanted to start the process of looking for a new home. We have been living in a tiny two-bedroom condo for the last several years, one we bought shortly after the recession for an amazing price. As I reflect, we weren’t even planning to buy the condo. Back then, we were a newly married couple looking to move a little closer to the city. We met with the previous owner, a sweet, recently widowed retiree, with the intention of renting.
One of my favorite quotes is from Mother Teresa: “None of us, including me, ever do great things. But we can all do small things, with great love, and together we can do something wonderful.” Tough Like Taylor’s parents had an opportunity to travel across the pond at the end of June to attend the 3rd Annual PURA Syndrome Conference. The conference was held in the United Kingdom at the Wellcome Genome Campus, home to the Wellcome Sanger Institute, which is one of the leading genomic research centers in the world. One third of the human genome was sequenced for the first time on this campus, which provided the largest single contribution of any center to the Human Genome Project (HGP)……pretty cool stuff. Way over my head…..but pretty cool.
Happy Mother's Day! I can honestly say that I had not even thought about Mother's Day until two days ago and that is only because my husband brought up the (lovely) idea to take me out for nice child-free dinner. Mothers and fathers deserve to be applauded and acknowledged on their respective days. Parenthood is a 24/7 job, with few vacations or accolades.
It is difficult to put into words the amount of gratitude that our little family has experienced over the last two months. From the moment, we received Taylor's rare genetic diagnosis of PURA Syndrome, we were treated with great care, love, and support.
The day we found out I was pregnant, we were thrilled. We were overjoyed with hope and promise for the future and were beyond excited to become parents. I had an uneventful, healthy, and smooth pregnancy. Taylor must have thought so too, because she was very comfortable in mama's belly.