Daphne's 10th Birthday Fundraiser

Donate for Daphne

This is a BIG milestone for Daphne and our family! When she was diagnosed we were told she would not live long and to go home and enjoy our time with her and only 20% of children live past the age of 10 years old. This has been an age we feared for a very long time. Now we are here and celebrating and hope you will as well. Daphne would love to live a life without limitations, doctors appointments, and seizures. We are asking for donations in honor of her birthday to help jump start our next project towards gene therapy.

Daphne's Birthday is May 23 and all the donation ticket themes are some of her favorite tv shows and movies.

**Note there is not an actual event, a ticket is just a donation and how the event is setup in wix :)

How it Started

In 2016 I started a blog, www.lifeisradd.com, to update family and friends about what was going on with figuring out what was going on with Daphne. Here is an email from the day we received her MRI results:

"It’s been a rough couple days, I’m sure for you all as well, made even more difficult by feeling far removed. So I thought I’d update you on what’s been going on.

The four of us spent the last two days together at home, mostly playing with Daphne and alternately laughing and crying. It’s been a true mourning period as we grieve the loss of Daphne’s normal life, which she almost certainly will never have. Sleep is scarce and idle time brings waves of heartbreak. We are holding up well materially (Adelaide is happy and well cared for, the house is clean, dinners are on time, etc.) so please don’t worry about that. We do have supportive friends and neighbors that have given assistance there.

But the time for mourning is coming to a close. It was necessary and a little therapeutic, but it is not helping Daphne. She is still with us, and we aren’t giving up on her.

All we know for sure now is that she has a metabolic condition that is affecting her brain development. The specific metabolic pathway that is deficient has yet to be identified. The metabolic specialist is confident that the genetic tests that are pending will nail this down. We expect those results in about 2 weeks. Because these conditions are so specific and rare, it is usually the case that only 1 or 2 research groups in the country are actively working on any given condition. Our hope now is that the results of the genetic test will allow us to get hooked up with such a research group conducting clinical trials of treatments.

These diseases are considered progressive, but they often don’t progress in a steady manner. There are periods of relatively normal development punctuated with periods of regression. We witnessed this firsthand with Daphne. It is also the case that periods of regression can be triggered by external stresses (infections, fasts, etc.). While we wait for the genetic results we are doing all we can to give Daphne’s brain what it needs to develop (vitamin supplements, protein rich diet, additional nighttime feedings). There is always the hope that Daphne has enough of a residual amount of the deficient co-factor that she can continue to develop."

How's it going?

It hasn't been an easy 10 years but also not as hard as others have it. Daphne had many illnesses before 2yrs old, rupturing her ear drums more than 6 times. She had a blood platelet disorder from a virus which almost caused her to bleed out, she had a massive 50+ minute seizure, she had many mito crashes over the years and then more frequent seizures triggered by the most simple life activities. She has gone to thousands of hours of therapy over the past decade which have allowed her to walk, swim, ride horses, play soccer, baseball and play with her friends. We took all the negative and unknowns we heard and pushed Daphne to succeed and she handled each challenge with grit and determination.

Daphne is the most loving girl that just wants to be included with every adventure. Loves her family so much and is the reason we keep fighting so hard for a cure, for her and others with this condition.