Increasing Awareness About Caring for the Rare Disease Child and the Reality of Being a Pioneer
Listen to the episode 30 of the Empowered Family Caregiver podcast with guest, Christy Vacchio, right here. November is #DiabetesAwarenessMonth and Christy has two children with DEND syndrome. DEND is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. Tune in to this episode to hear Christy’s journey caring for the rare disease child and the reality of being a pioneer.
November is #DiabetesAwarenessMonth. Hear how one mom is changing the conversation around #DEND. Click To Tweet
This #TBThursday picture brought to you by #dendsyndrome Andy was 6 in this pic and this was the summer he was dxd w/ #absenceseizures November is #DiabetesAwarenessMonth as well as #EpilepsyAwarenessMonth Spread awareness of #neonataldiabetes pic.twitter.com/hQl02Bte9c
— Christy Vacchio (@christyvacchio) November 2, 2018
Christy’s Family Caregiving Story Overview
Here’s Christy’s caregiving story in her own words…
I have been blessed with two children with an extremely rare genetic mutation that causes a type of syndrome called DEND syndrome. It entails developmental delays, epilepsy, and neonatal diabetes. We have literally been pioneers in this disease because there was a groundbreaking treatment discovered literally at the time my son was born. It took until he was 21 months old before we found out and were able to try the treatment. It thankfully worked on one aspect of the syndrome, neonatal diabetes. Andy was one of the first patients in the United States with diabetes to come OFF of insulin (we think he was about number 3). My daughter shouldn’t have had the same thing. They tested my husband and me and we didn’t carry the gene in our saliva so the doctors told us the chances of her having it was slim to none. I knew by the middle of my third trimester that she had it because the first sign is intrauterine growth restriction. It took 10 days after she was born, and many many phone calls to finally get a doctor to recognize she actually had it. I have been fighting for my kids ever since they were born. It can be exhausting sometimes but finding a support group and other families going through the same thing has been invaluable.
Here’s an overview of what you can expect to hear during our chat:
Tune in @ 1:50 to hear Christy’s caregiving story; including her pregnancies and how these experience changed her life.Christy has learned how to be an effective advocate for her kids. Learn what she does to be the best possible advocate! Click To Tweet
Tune in @ 13:30 for Google research tips.
Tune in @ 16:00 for information about diabetes.
Tune in @18:00 for facts about DEND.
Tune in @ 25:00 to uncover what parents can do when they feel there is a problem with their child.
Tune in @ 28:00 for how to talk to the doctors and be the best advocate for your children.Ask questions of the medical community and speak their language. Click To Tweet
Tune in @ 31:00 for more insights on talking to doctors.
Tune in @ 32:00 for tips on navigating the medical system.
Tune in @ 32:40 for a few great tips from Christy and her husband for caregivers and marriages. This is SUCH an important thing to remember!
Tune in @ 35:00 for a quick respite discussion.
Tune in @ 37:00 for some facts about rare diseases.Did you know... There are 7,000 rare diseases affecting over 30 million people in the United States? Click To Tweet
“Take 5 With Tandy Round”
Get valuable wisdom nuggets from caregiving experts. Click To Tweet
Tune in @ 41:24 where Christy shares her best piece of advice to reduce caregiver stress.
Tune in @ 41:56 to get Christy’s best advice for new caregivers.
Tune in @ 42:27 for Christy’s thoughts about how she found her best during what seemed like her worst. This is also the theme for this year’s National Caregiving Conference #NCC18. Learn more about the conference here: http://www.caregiving.com
Tune in @ 43:07 as Christy shares what she’s grateful for right now.
Tune in @ 43:54 as Christy shares what she would tell someone to keep hope alive.
Genetic research is in its infancy. There is hope. When they say we can’t do anything that means we can’t do anything RIGHT NOW. There is hope for the future. ~ Christy Vacchio
In honor of Diabetes Awareness Month, here’s a great article about the disease.
Christy Vacchio is a full-time mom, wife, and instructional coach by day. By night, she runs a small business, helps support families as they join this new world of DEND syndrome and Neonatal Diabetes, and occasionally posts on her two blogs and runs a store on Shopify with graphic designs for rare diseases and special needs toys. She is also starting a nonprofit called Babies with Diabetes and hopes to one day work with doctors on innovative treatments for children like her own. Oh, and she loves Young Adult Books, Butterflies, Bulletproof Coffee, and, most importantly, BACON!
Connect with Christy here:
Blog/Shopify Store: https://babieswithdiabetes.org/
Facebook Page: https://www.facebook.com/adventuresinkandyland/
Want more articles like this? Check these out:
Christy wrote a guest post about taking time for self-care – Selfie Time: 5 Quick Ways to Recharge
Here’s another blog article overview with Kate Schutt – Empowered Family Caregiver Interview Highlights With Kate Schutt
Here’s the biggest roundup article with over 100 respite ideas for caregivers- https://tandyelisala.com/the-complete-caregiver-respite-guide-you-need-to-know/
Here are 47 powerful lessons from caregivers to caregivers – https://tandyelisala.com/47-powerful-lessons-and-advice-from-family-caregivers/
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