July 21, 2017

2017 GFPD Conference Recap

On July 13th and 14th over a hundred scientists, clinicians, and students came to Washington D.C. to attend a conference focused on the Development of Therapies for Peroxisome Biogenesis Disorders. The keynote speaker was Dr. Francis Collins, the Director of the National Institutes of Health (NIH).

As a parent of a child affected by PBD-ZSD it is hard to adequately describe how much it means to know that there is growing interest in finding treatment for rare diseases.

In addition to the scientific portion of the conference was a separate conference designed specifically for families. More than 40 families from the US, Canada, and the Netherlands came together in the largest GFPD Family Conference to date. Check out the welcome video below.

Jen Kerckhoff, a fellow GFPD Board of Directors member, wrote a wonderful article about her experience which you can read on the TulsaKids blog. Jen is one of just two members of the Board of Directors who is not a parent of a child who has been diagnosed with PBD-ZSD, which gave her a unique "outsiders" perspective as she attended her first GFPD conference.

Saturday, Sunday, and Monday were packed full of information --- scientific updates, medical information, educational resources, understanding and dealing with the grief that comes with this diagnosis regardless of if your child is still living or has already passed --- and time with with others who simply "get it." You can check out the full schedule of events here. As I headed to the airport on Tuesday morning it was hard to believe that our time together had once again come to an end.

When we attended our first GFPD conference in 2011, Ethan was one of the youngest in attendance. Due to circumstances beyond our control, this year I went to the conference along and Jeff stayed home with the kids, but don't worry he had lots of help from the grandparents and the kids had a blast without mom around. However, the fact is that Ethan is becoming one of the "older" kids. Ethan turns seven in less than a week! Yes, there are children and young adults with PBD living into their teens, 20s, and even thirties, but the reality is that most children with PBD do not have that long here on earth.

There are some really exciting things happening in the development of treatment options for PBD right now, but when your child is fighting a disease like PBD, hearing that we are still potentially years away from major treatment breakthroughs is tough. Thankfully, the GFPD, our families, and "our" scientific community are all excited about the future and want to see potentially life-changing medical breakthroughs come to clinical trials as soon as possible. Continuing to move the science forward is going to continue to require a sacrificial amount of time, talent, and treasure.

Since moving to Peoria in the summer of 2014 our family has not hosted a fundraiser for the GFPD. While we are so grateful to the many family and friends who have made generous donations to the GFPD in honor of Ethan and for birthdays or special occasions/awareness days like #PAUSEforPBD day, etc. it just isn't the same as rallying a local community around the cause. When we lived in Decatur we had a great success with our Pancakes for PBD all you can eat pancakes and sausage breakfast thanks to our wonderful church family at FBC-Mt. Zion and all our family and friends in the area. However, we both had much deeper roots in the community then we do here, and even after being here for a few years, we simply don't feel like we have the connections, insight, time, and energy needed to organize a successful fundraising event without a lot of help.

So, in addition to your prayers which we are always appreciative of and will always need, we also are once again asking if you have any time, talents, or treasure that you could possibly share with our family and our GFPD family. None of us can do this alone and we need everyone's help. You can learn more about the GFPD and find out ways that you can get involved at www.thegfpd.org.

#GFPDisFamily #GFPDisResearch #GFPDisHope

June 3, 2017

First Hospital Stay of 2017

Ethan was diagnosed with strep throat on Monday, May 22nd. He was prescribed a 10 day antibiotic which finished up Thursday (June 1st). Thursday night we had to administer his rescue medication to stop his seizures and we had to do this again Friday morning. After giving him the rescue medication on Friday morning I took him to the ER.

We were admitted and spent the night. Blood and urine samples were "okay," but the nasal swab was positive for a cold virus. So, sometime during the treatment of the strep throat Ethan also caught a cold. He is still extremely lethargic, but we didn't see any seizures today. We got home around 5pm this evening. 
Jeff did an amazing job holding down the fort here at home while I stayed at the hospital and I'm very thankful for the friends that helped out yesterday so that Jeff could come visit us for a bit.

Prayers for Ethan's continued recovery and for no more breakthrough seizures is greatly appreciated.

November 20, 2016

Sick. Seizures. Sick of Seizures.

Ethan's continuing to fight the "bug" that has been plaguing him for more than a week now. The cough isn't going away, and I'll be calling the doctor tomorrow.

Yesterday, I had to use Ethan's rescue medication in the first time since May. While the seizures have returned over the last couple of weeks, we weren't seeing them every day and they hadn't started to cluster until yesterday afternoon. I am thankful that the diastat stopped them, but I hate that I had to use it. The diastat really kicked his butt yesterday and he slept for more than 4 hours. It finally got late enough that we had to wake him, which was hard because he was so groggy, but eventually he woke up.

Although we were concerned that Ethan might be up all night, he wasn't and slept really well until around 5:30am, which isn't bad considering that since the time change he has been consistently waking up between 5:00 and 5:30am. Ethan and I stayed home from church this morning and sent Jeff and the girls as our representatives. Ethan's been napping for a while. This bug, whatever it is really needs to go away!