Monday, March 23, 2015

Introducing Fran!

In a previous post (http://maintenancerequiredblog.blogspot.com/2015/03/running-for-rare-diseases.html) I mentioned that I have gotten involved with the Running for Rare Diseases team. I am the patient partner to Fran Crofts who is running the Providence Marathon on May 3 in Rhode Island. I promised a more detailed post introducing Fran, and here it is! These are questions I sent to Fran for her to answer, so everything is in her words =)

When did you get into running?

I started running at age 13 when I moved from humid Texas where we moved as slowly as we could to the cool foothills of Salt Lake City, Utah. I stopped running around 24 years of age, and after an 18 year break and 2 kids, started running again a few years ago.

How many races (5k, 10k, half marathon, marathon, etc.) have you run?

Good question! I don’t know how many 5 and 10k’s. I’ve run 5 half marathons and 2 marathons, including Philadelphia in 2013 and NYC in 2014.

What is your favorite race that you have done and why?

It might be the Philadelphia half marathon in 2012. It was my first big city race, and the crowd support and signs were a lot of fun and helped the time go by quickly. Plus, it was a beautiful day!

What do you do for a career?

For the past 17 years, I was a toxicologist supporting development of medicines. I recently changed careers slightly and am working in a business development group within the same company, helping manage a partnership with a small company working on treatments for genetic cardiomyopathies and evaluating new investment opportunities.

Do you have any pets?

We have 2 pets. A cat named Kitty, and a rescue mutt named Zoey.

What do you like to do when you're not running or working?

Read and hang out or hike or ski with my husband and 2 kids.

How did you get involved with Running for Rare Diseases?

I heard about the group a couple of years ago and applied to be a runner and to partner with a patient this year. I was fortunate to be paired with Kylene.

Why do you want to be involved in the rare disease community?

Because I wanted to be supportive. Since then, I’ve heard many touching and heart-felt stories and learned how difficult it can be for many patients to get an accurate diagnosis. I now have a smart, inspirational patient partner, Kylene, and I’m looking forward to “running for rare” in the Providence Marathon on May 3rd!

I hope this gives you a glimpse of who Fran is and her desire to be a part of raising awareness for rare disease research. We have been paired as runner and patient partner to be a part of the Running for Rare Diseases 2015 Team to raise awareness for rare diseases and funding for the Undiagnosed Diseases Program at NIH. Had we not found answers with Dr. Afrin for me, this program was on our radar as a possibility, as our last resort to finding answers. This cause is very personal to me, and I am glad to be a part of a team that is committed to helping others find answers. If any of you would consider joining us in raising awareness and funding by donating to Fran's fundraising page (http://www.firstgiving.com/fundraiser/FrancesCrofts/2015-running-for-rare-diseases-team), that would be awesome!

Tuesday, March 17, 2015

Guess What Today Is???

Apparently I'm all about the alternative holidays...it wasn't Valentine's Day, it was Gastroparesis Awareness Day. Today you may THINK it's St. Patrick's Day...but you'd be wrong! Actually you would technically be correct, but more importantly, it's...BONK'S BIRTHDAY!!!!!



For those of you that don't know, Bonk is our pretty much amazing dog. He's turning 4 today, and I've had him almost 3 of those years. If you saw my earlier facebook post, "He likes dinner time (and breakfast), his duckie and penguin, treats, snuggling, car rides, and long walks on the beach (or just around the neighborhood and to the park)."




That about sums him up! I'm doing this post because I told a friend a few weeks back that I would put a picture of Bonk in my next blog post, and I just realized that I hadn't yet. So to make up for it, he gets a whole post to himself!




HAPPY BIRTHDAY BONK!!!!

Thursday, March 12, 2015

Who Knew?!?!

I was on the phone with my GI doctor the other day and made the comment that I never thought I would say it, but I am really liking having a tube in my nose. Not exactly something I ever planned on saying, but it's true!

I've had Herman 3 weeks now, and it is going well! The first week was rough...I was on a formula that I did not tolerate and I was adjusting to having the tube, so it was a challenge. Things are much better now. I was able to switch formulas which has made a huge difference in me being able to tolerate the feeds. I've been able to increase the rate that I'm running feeds which is good! My nose and throat are also much better. I still have some minor bleeding in my nose about every other day, but in general it's more or less "comfortable" and at times I forget it's there. My throat is also better and doesn't bother me much expect when it decides to feel like I'm being stabbed in the throat...but that only happens occasionally now.

So the feeding tube has been good! I also really like that I am able to get the nutrition that I need without having to force myself to eat and cause severe pain and nausea. Since having the tube placed, I have not needed to go to the ER (prayers that this streak continues!) and I have been able to control my symptoms at home. Yay!

Unfortunately, it's not all smooth sailing...

The stomach and intestines follow the same "use it or lose it" concept for all muscles in the body. Meaning, if no food is going into my stomach, there is a real risk of it shutting down completely...just to clarify, that is NOT good =P Even though I was having a lot of trouble eating, getting the NJ tube did not mean I was going to stop eating altogether, just that it took the pressure off of my needing to get all my calories from oral intake. So, that being said, I am still supposed to eat what I can with the tube to build my stomach back up to tolerating regular food and meals again. And that is where things are not going well...

When I try to eat anything solid (anything beyond smoothies, popsicles, etc.) my pain and nausea come back...not fun =( I have been able to control it at home with my medications since I am not eating large quantities, so we are thankful for that, but it's still discouraging to not be able to eat anything solid without being in pain and feeling like I'm going to throw up. If I only run the tube feeds and stick to clear liquids and smoothies, I feel great! It's just when I try to eat that things don't go well.

And that's where I'm at right now. I've had the tube for 3 weeks and am about half-way done. The plan was to have it for about 6 weeks for supplemental nutrition and transition back onto solid food while on the tube so when it's pulled I'll be more or less back on a "normal" diet. Please be praying that my stomach settles and I am able to start tolerating solids soon. It is great to not have the pressure of forcing myself to eat to get the nutrition I need, but I know that time I have the tube is limited, so we need to get the eating sorted out.

On a completely different note, I'm loving the warmer weather and hope everyone else is too! Yay for spring, although being in Ohio I'm still expecting another snow storm at some point...

Friday, March 6, 2015

Running for Rare Diseases

When I started blogging, it was not just to share my story, but also to potentially help others who may be dealing with similar issues. Personal experience can be the biggest testimony of what works and what doesn't or how to go about doing something. My experiences are not unique and there are many other patients struggling with symptoms, searching for a diagnosis, or just navigating the mess that is our healthcare system.

And not just mast cell disease patients, either. As I mentioned last week, there are almost 7000 rare diseases that have been identified. Over 30 million Americans are dealing with a rare disease...1 in 10...I think we all know more than 10 people, so you have at least 1 person in your life dealing with a rare disease. Maybe I'm that person...maybe there is someone else...

So, what can I do about it? I have struggled with that question for a while. I want to do SOMETHING to help others who may be dealing with the years of misdiagnoses and confusion and doctors and the unknown. I've been there, I know what it's like, I don't want others to have to deal with that. But I always came to a wall when I tried to figure out what I could actually do to make a difference...then I found Running for Rare Diseases (www.running4rare.org).

Running for Rare Diseases is an organization that was started by an employee of Genzyme. Genzyme is a company in Massachusettes that partners with NORD (National Organization for Rare Disorders) to research and develop treatments for rare diseases. The Running for Rare Diseases team is a group of runners that work at Genzyme and other similar companies who want to raise awareness for rare diseases and funding for the Undiagnosed Diseases Program (UDP) at NIH. This program is free to patients and provides diagnostic testing and treatment options for patients dealing with mysterious conditions that have not yet been identified. Each year, the Running for Rare Diseases team is comprised of runners and patient partners who pair up to raise awareness and funding and to be the faces of these rare diseases that are identified by NORD.


When I found this organization, it seemed like a fanstastic fit for me! Running and bringing awareness to mast cell disease and other rare conditions, sounds like an idea I could have come up with!! This year, I have the privilege of being the patient partner to Fran Crofts. She is an employee of Sanofi in New Jersey which is the mother company to Genzyme. This is her first year running with the Running for Rare Diseases team and is signed up to run the Providence Marathon on May 3. (I'll dedicate an entire post to her soon, stay tuned!) Check out her fund raising page (http://www.firstgiving.com/fundraiser/FrancesCrofts/2015-running-for-rare-diseases-team) and on the tail of Rare Disease Day 2015, consider donating!

I hate asking people for money, I know things are tight for everyone, and I typically don't give to everyone that asks me for a donation. However, I have found that I do like to give when I feel like I have a connection to the organization or when I am personally invested in it. I know many of you have been praying and coming alongside me and Nick and my family during this time and have become invested in our journey. I appreciate your support and prayers more than you can know! And I just want to ask you to consider giving even a small amount. I am a daughter, sister, wife, dog owner, friend, and I am just one. There are so many others out there still undiagnosed. The purpose of the UDP is to help decrease the amount of time to diagnosis for each patient.

Average time from beginning to seek answers to diagnosis with a rare disease is 8 years...that is UNACCEPTABLE. I am blessed...I am not homebound or completely disabled or unable to be alone, but there are many others who are. And so many wait well beyond 8 years for a diagnosis. So much can happen during those years, sometimes physical damage that is irreversible...shortening the time to diagnosis could improve quality of life significantly and certainly cut down on the emotional struggle that comes along with dealing with an unknown disease. I still have my rough days, I'm not healed and still working to manage my symptoms, but I am so blessed to have a diagnosis. When you pray for me and my family, please also consider those who are still on the long journey to a diagnosis, and consider being a part of raising the awareness and funding that is needed to make a difference in the rare disease community!