February 29th is National Rare Disease Day and is the day the Bengtson family has chosen to launch a fundraising campaign for NORD, the official US sponsor of this day.
Rare diseases impact 1 in 20 people, though the odds for that person’s specific disease may be 1 in a million.
Our family has been significantly impacted and changed forever by a Rare Disease, and hope that we (and you) can help contribute to this important organization that helps many other families like ours.
Leeanne Bengtson & sister Brenna Peters will be running in their first Half Marathon, at Gulf Beach, on Sept. 19th, 2020 (Cece’s 3rd Birthday) in Milford, CT. If you would like to run with them, or just cheer along with Dad and family on that day, please contact us!
Here is our story:
At around 20 weeks pregnant, our second child was diagnosed with an incredibly rare skeletal condition. We were told by doctors and geneticists that this condition was considered "lethal" or "sub-lethal" with numerous symptoms that affect nearly every body system.
The prevalence is as rare as 1 in 200,000. The rate of survival is estimated as low as 5%.
The most immediate life-threatening issue of the condition is an inadequately formed respiratory system. The doctors could not tell us exactly which symptoms our baby had and they also could not tell us her chance of survival. The doctors explained the condition was so rare, they had only read of it, some had seen it perhaps once in 20-30 years.
They also warned us that looking on the internet for answers would show us the most severe cases, highlighting the children who had not survived or had the most severe characteristics of the disorder. We scoured the internet for answers regardless. One of the organizations that we kept coming back to was NORD, National Organization for Rare Disorders. The site had clear information, written in understandable terms and appeared to have updated its statistics more recently than other outdated websites.
In addition to compiling information on rare disorders, NORD is also involved in patient advocacy programs, research and treatment, and works hand in hand with doctors and researchers to educate about rare disorders.
Cece was born on September 19th, 2017, with all outcomes prepared for; multiple doctors and experts present to the NICU team standing by, and emergency equipment at the ready. We had researched this disorder and discussed the outcomes at length with our doctors. It was because of the information found on up-to-date websites like NORD that we all could prepare and give our baby the best chance at survival. Cecelia was delivered by classical cesarean en caul and whisked away to be cared for, very successfully, by the skilled hands standing by.
Cece had a 4-week stay in the NICU after birth, after which she was able to come home for what would turn out to be a short 4 weeks. Her difficulty breathing, which had gotten better in the NICU, allowing for discharge, worsened over this time at home, culminating in a harrowing trip to the ER. Cece would stay in the ICU for 5 months, stabilizing, gaining weight and settling on a home ventilator. Leeanne quite literally lived at her bedside this whole time. Her parents learned emergent and daily trach care techniques, to be able to keep her safe for the eventual move back home
Cece had developed several aspects of the condition, most notably a small thoracic ribcage which restricts her lung expansion. Cece requires a tracheostomy and 24/7 ventilation due to this.
Miraculously, she has celebrated her 2 year birthday this past September, and more amazingly, reminds us of other typical 2-year old toddlers more and more each day. She is unable to speak, due to the trach and ventilator, but is quickly learning sign language and surely knows how to make herself heard! Her physical development is delayed from the lengthy hospital stays and from being tethered by ventilator tubes, but has recently learned how to crawl and is now picking up speed!
Cece's “Auntie Bee” (Brenna) had surprised Leeanne and Erik, (and brother Paul) with the fantastic idea to raise money and run this half marathon for NORD, (a registered 501(c)(3) organization.)