I had a question from one of my friends today so I thought I would address it in a blog post. This person asked me, "What is the best way for me to be an advocate for my parent friends who have children with rare diseases?" Well now, that is an excellent question! As parents of children with rare diseases, we get thrown into this world without any idea how to navigate it by ourselves. If you're lucky, there is a support group for your child's disease. But our friends may not even know the lingo, the name of the disease, or how they can support you on your journey. In the beginning, we didn't ..read more

Your child is diagnosed with a rare disease. What do you do now? Like many parents of a child with a rare disease, I first hit up Google for answers. In the times we live that is not a bad idea. More and more, groups of people with rare diseases are forming patient support groups, writing blogs, telling their stories on social media platforms, and connecting in any way they can. Raising awareness about your rare disease helps move that needle further down the line. Every year since 2008, Rare Disease Day is celebrated all around the world. Since February 29th is the "rarest day" on the calend ..read more

For every parent, the birth of their child is a significant month. But for the parent of a child with a rare disease, or a significant diagnosis, the month of diagnosis is also a time that is forever remembered. For some, especially in the diabetes world, we call this our "Diaversary". August is always a hard month for me because I am excited for the new beginnings of school. The smell of fresh pencils and notebooks. The look of brand new shoes and clothes on the kids. Everyone is looking their best in all their gloriously shiny new backpacks and smiles as they head off to a new school year a ..read more

Eleven years ago we were entering Brenner’s Children’s Hospital in North Carolina to try something relatively new. While Andy was not the first patient in the United States to try it, he was definitely in the inaugural class (we think one of the first 5 at least). For 17 months we had given him insulin shots and hooked him up to an insulin pump to keep him alive. We were prepared to spend a lifetime of checks by blood sugars 8-10 times a day, changing out insulin pumps every 3 days and counting carbs for every single morsel of food that went into his mouth. When we were admitted to the hospit ..read more

We are now at the end of the second week on Andy’s new medicine, Carbamazepine (Tegratol), and so far, we have had no adverse side effects.  We started him on a small dose of 2.5 ml (50 mg) twice per day for the first week and then increased it up to 5 ml (100 mg) twice per day for the second week.  We will continue to increase up to 10 ml (200 mg) twice per day and then get some blood work done to see how he is doing. No Adverse Side Effects Our doctor prepared us for the worst by telling us all of the bad reactions to look for; bad rash, grand mal seizures, and discolored urine, et ..read more

There are two thoughts that ran through my mind when our doctor told us that our son had a rare genetic mutation: Which one of us gave it to him (or was it both of us)? – and Why can’t they just replace the gene with the correct one? While the answer to the first question may be easier to answer for certain diseases and disorders such as hemophilia and color blindness, others are not so obvious. Does it even really matter?  Both of our children have it and while that in itself is extremely rare, it doesn’t change how we treat it or how we go forward with our research. The second questi ..read more

Disclaimer:  The information shared in this post is in no way meant to be a diagnosis or treatment for you or your child’s condition.  Please know that our only intention is to share our story and help others see how we have advocated for the care and treatment of our children with a rare disease.  Please consult a physician for the care of you or your child’s specific condition. One of the best parts of going to Chicago every few years is learning about new research in the area of Neonatal Diabetes, and last year was no exception.  While we were there, attending small gro ..read more

https://www.youtube.com/watch?v=sz3nQ8igbII&feature=share ..read more

Can’t get over how big he’s gotten. Just wanted to share a little smile today. This is Andy how he usually is – smiling!  Missed the date but as of January 24th he has been off of insulin now (takes glyburide pills) for 9 years!  My how time goes fast.    ..read more

I knew I loved Jamberry nails long before I even tried them and long before I decided to sell them. Part of what I love about the company is that they are all about giving back to people in need. They carry certain wraps called charity wraps that they donate $2 from each sale to that charity. Now, for a limited time they will be teaming up with the Now I Can Foundation to raise funds for families in need.  This foundation, based in Utah, helps children overcome some of their disabilities through the use of intense physical therapy. Children often come to their facility for 3 or 4 week ses ..read more