Rare Disease Day

Imagine that all of a sudden, your world stops.

Your family’s focus becomes a single, life-threatening topic. Home becomes the only place that is safe or manageable. Your physician is on speed dial. Doctors’ offices are the only place you have been in a while. You monitor symptoms, wondering if one will lead to more. You think, “This will pass soon,” but weeks, months, even years drag on. Your only hope for change is out of your control, resting with specialists. Questions linger.

This isn’t COVID-19. This is everyday life living with a rare disease. But having lived in a pandemic, we can all now empathize…

Collaborative approach used for rare diseases can help us defeat COVID-19

The DADA2 Community: Working Together

Families, like ours, working together for a better tomorrow.

dada2 History

Honoring Dr. Kastner

When Kelsey was an infant, we were wrought with worry, concern, and fear. A few years into our journey, we were fortunate enough to meet Dr. Dan Kastner at the National Institute of Health.

Hope followed and years later, a diagnosis. Dr. Kastner was thoughtful, eloquent, and provided us with much-needed answers. We learned this week that Dr. Kastner was awarded the Crafoord Prize, in recognition of his work that led him to dada2.

We thank you for your work and cannot truly express the gratitude that must be felt by all of the families and patients you have helped throughout the years.

https://edition.cnn.com/2021/02/01/health/daniel-kastner-rare-diseases-autoinflammatory-scn/index.html?fbclid=IwAR2_f5-tDAwj2FBnsvtFT9gBywW0qporPFBjfoq5CKtAFRQCrT7Pb2DrsGY

Wicked Good

Kelsey is a warrior. As the pandemic isolated us, The Wicked Warriors of EG noticed the efforts of Kelsey’s Kaleidoscpe, Inc.

This weekend, the sun was shining with a chill in the air on the eve of Kelsey’s birthday. Sirens led by the local police department sounded and a sea of cars and purple balloons were soon visible outside of Kelsey’s home. Kelsey radiated with pride and happiness as the parade began. Her family and president, Mary Wagner, were truly overwhelmed. We have been so lucky to have the support of so many. Seeing support drive past our driveway was truly a moment that will not be forgotten.

Following the parade, the Wicked Warriors of EG presented Kelsey’s Kaleidoscope, Inc.: A New View for PAN with a generous donation for our organization. This money was raised over the past year through many fundraising efforts. COVID19 closures did not stop the spirit of the organization and their dedication to the community.

Again, the family and Kelsey were overwhelmed with love and support.

“The strength of a warrior, the power of a community!” Thank you, Warriors!

Stay brave and strong.

A New Day

Today, we will start anew as a nation.

Regardless of our views, it will be a day to celebrate a new chapter. Like new years bring the magic of new beginnings, a fresh start brings us together.

Challenges have met us most at many parts of the year behind.

Together, today, it is my hope that we can begin to unite and feel the magic of new beginnings.

Be brave and have hope.

Thieu

When Thieu was born, ten years ago, our world was perfect. He was a lovely and easy baby. He was only two months old, when he began to have fevers combined with rashes on his legs, arms and face. We went to our medicine and were told that the rashes were an allergic reaction to mosquitoes. The summer past, but he still had rashes coming and going.

Furthermore, he regularly was (very) ill and often had fevers. We visited several medicines, but none of them could give us an explanation and we were told that he was doing fine and that he would grow out of it.

Eventually, at the age of two, we visited a dermatologist in an university hospital. From there he was referred to a rheumatologist because of signs of inflammation in his skin and abnormal blood results.

Thieu was still vulnerable to infections, was quickly tired and had lot of mollucosa. At the age of four, he was referred to an immunologist. He was diagnosed with a primary immune deficiency and a therapy of immunoglobulins was started.

His condition improved… until two years later, when he suddenly had severe pain in his leg and barley could step. He was hospitalised and turned out to have a vasculitis and myositis in his leg. His physician directly suspected DADA2, a very rare auto-inflammatory disease, and a blood sample was send to a specialized lab. Few weeks later we got the diagnose DADA2. Our physician was open and honest in her explanation of the illness: Thieu had an increased risk at cerebral infarction and lots of other serious medical issues. Our world stood still for a moment… The rest of the family was also tested and his sister also was diagnosed with DADA2.

Thieu recovered from the vasculitis in his leg but began to have pain in other limbs. I remember a morning when he had severe pain in his arm and began to cry because his cup of milk was to far on the tablet and he couldn’t reached it. It brought tears in my eyes to see my son suffer that much.

Our physician decided that it was time to start with Etanercept. But at that moment Thieu began to have petechia, noise bleedings, had a lot of bruisings and was extremely tired. Thieu had a severe low amount of trombocytes and red blood cells. He had an auto-immune demolition of his trombocytes and red blood cells. When his body was recovered from this all, he finally could start with the therapy of Etanercept. Since then he is doing pretty fine, but still needs a frequent follow up.

Having a child with a rare disease is not always easy, the uncertainty of his condition is difficult. But we know we’re not alone: about two years ago, we had the wonderful opportunity to meet other families with Dada2 patients from all over the world in America. It was an unforgettable experience to learn more about the disease and connect to others who experience similar issues. Through the Dada2 foundation, we stay in contact with each other.

We take it day by day, trying to make the best of it! We also have the luck of having a great physician taking care of our kids, she’s really the best and that makes a world of difference!

Full article can be found here.

2020- Guest Post from Kelsey

2020 was what many people called a tragedy and a time of regret. Maybe for the world, it was.  I tried to look on the bright side and realized that it was a good start to a decade for my family. It was probably one of my best years health-wise, and my treatment has been going strong as we approach the two-year mark.  The two-year mark usually is when all therapy stops working for me. 

As I reflect, I realize that my family spent time with relatives and friends, even just on facetime, zoom, google meet, or on the phone. What I am saying is that 2020 wasn’t such a bad year in some ways. No one got COVID and we were all safe and sound together.   I would like to give a big shout out to the front line workers that help make our family and many others safe. 

Those efforts made it possible to have fun at home with each other. I played with my brother. We got to play more together and became pals for life. We played games often, and when we were finished, no one got hurt. In all, when I look back, I am grateful for that. 

For the world, that was a different story.  To the people that lost loved ones, my family and I pray that you are in a better place. We lost a beloved mother, grandmother, and mother – in – law.  She will forever be in our hearts. 

To everyone, think positively and make 2021 a great year. 

Be brave and look on the bright side of things.

COVID Christmas

As we close December and the year of 2020, reflection is natural. This year has so many facets, so many points of passion for our country, so much sadness for so many. Christmas was a time to count our blessings. We did so on a very small scale and were grateful for those we were able to see.

Close calls and an abundance of caution withheld other celebrations, even those we planned to share from a safe distance.

We hope that 2021 brings us all a sense of peace to ensure our holidays in 2021 can look Merry and Bright in their full form.

The new strain identified in the UK and now surfacing in Colorado presents new challenges for us all. However, with safe practices, an abundance of caution, and vaccine distribution, we remain hopeful.

To 2021, may it bring you joy, health, and happiness.

Be Brave. Mask Up. Hope.

dada2 – Israel

The main focus of our organization is bringing awareness and support to our research efforts. In 2020. distance is a natural part of our daily life. The dada2 organization brought a global perspective to dada2 research and international cohorts of patients. We feature the Israel Cohort today. Their research and partnership with the United States helped Kelsey with treatment upon diagnosis. We are grateful for the outreach and the medical collaboration made possible by Dr. Chip Chambers and the National Institute of Health.