Avery’s Tribute for Rare Disease Awareness

Over the past several months, Avery worked really hard making this piece to acknowledge, encourage and pay tribute to all individuals with Rare Diseases. She learned a medium of dance she’s never done, or really even seen before as well as many skills that were totally new to her. For the purpose of editing the video together, some of those new skills didn’t end up in the final video. We’re so proud of all the work and heart she put into this piece. A special thank you to Sonja Davis at Urbana Dance Studio and Andrew Mangum of Andrew Mangum Photography as well as the Maryland Theatre.

Catching up

So, it’s been awhile since I’ve posted.

Ok, ok……..a L-O-N-G while.

A lot has happened over the past six months! So, today….a summary post.  I’m working on going back and filling in the gaps (with pictures!). My goal is to get back to updating this blog regularly! So…..here goes!

Last Winter, Jason and I were asked to become Patient Advocates for Awareness for the FH Foundation. In April, we traveled to Pasadena, CA for our Patient Advocacy training. We spent three days learning about FH from several specialists; received public speaking training on how to share our stories; met fellow patients with FH and HoFH; and had the opportunity to meet those that work in the Foundation’s office who do such a great job providing us with answers to our questions, resources, professionally designed materials, etc.

June was a pretty significant month as far as Avery’s health goes. She had a port surgically placed in her chest with a tube that runs from her carotid artery to the port.  At the end of June, she had her first LDL apheresis treatment at Nemours/Alfred I. duPont in Delaware. Generally, Avery will do apheresis every two weeks. Today was her 11th treatment.

Also in June, we started a Crowdrise fundraiser to raise money for the FH Foundation.  To date we have raised $3,360 for the Foundation! We’re so THANKFUL to our friends and family who have donated and feel absolutely blessed beyond words by those that don’t even know us who have donated. If you haven’t donated, you still can (all donations are tax deductible). We’re still trying to get to the $5,000 mark. Click here to donate now.    

On July 1st, our insurance coverage year started over.  Because of Avery’s condition, we elected to go with the policy with the highest coverage level, which unfortunately has a $10,000 out-of-pocket deductible/maximum. Luckily for us, our insurance company seems very confused about what they should be paying and we’re still trying to get them to pay bills from June. Unlucky for us, I think the time when things are all sorted out and we begin getting bills for our portion is just around the corner. Not sure where $10k is going to come from, but we’ll cross that bridge when we come to it.

In September, Jason and I were invited to attend the 2015 FH Summit, which was also held in Pasadena, CA. This time we were able to add a day of leisure onto the front and back-end of our trip to enjoy a little bit of the beautiful California coast and some much needed R & R.

In October, City Ballet School held their annual Princess Tea. This year we were blessed to be the recipient of the proceeds from this event. We are so appreciative of the kindness and thoughtfulness shown to us by the Director of CBS, Mrs. Danielle Horochowski, as well as the other teachers, students and their parents. We’re so thankful to be a part of the CBS family!

Lastly, I’ve tried to bring some consistency by renaming the blog, changing my twitter handle, etc. Please change your bookmarks and update your contact information so you can follow Avery’s journey with HoFH and PLEASE help us spread the word on social media by Liking/Commenting and/or Sharing our posts, subscribing to my blog, and following me on Twitter and Instagram. We’re trying hard to bring attention to and raise awareness for FH and HoFH. If you have news/media contacts you would be willing to share with us, please send us a message. I’ve made it easy for you to follow me. Just click on the links below!

Subscribe to the blog: www.averysfight.wordpress.com

Follow me on Twitter: @AverysFight

Follow me on Instagram: AverysFight

Like our Facebook Page: www.facebook.com/fightingforavery

That’s it for now!

Stay tuned for more updates and as always, thank you to everyone who has supported us on our journey!

Michelle

And so it begins

I’m not sure where this is going, so, bear with me.

As I think back on the past two months, it seems like a blurry dream playing out in my mind. Some days I’m pretty good at putting reality out of my mind and pretending it’s only a dream. Some days I remember to be present in every moment, because none of us knows when that moment may be the last.

Other days I’m consumed by worry and sadness. I go through the day in a fog, crying in the bathroom and avoiding eye contact so as to avoid the “How are you’s?” — because, really, how am I? Well, I’ve been better.

Some days I’m just mad. Our life was good, not perfect, but good. Now our life is good, but there will always be worry in our minds. Always.

I guess I should start at the beginning. In November, at the kids normal well-child visits, we requested their cholesterol levels be checked. We’ve done this in the past as hereditary high cholesterol (FH) runs in both of our families. In the past the tests came back normal. This time they came back anything from normal. Ian’s total cholesterol was over 300 and this is a kid who’s diet consists mostly of bread, peanut butter and protein shakes. Avery’s cholesterol was even more alarming. Her total cholesterol was just shy of 800. At age S-I-X. The doctor thought maybe there was an issue with her bloodwork and requested we have it done again as soon as possible. Well, there was an issue alright.

We were referred to Dr. Peter Kwiterovich, a doctor specializing in pediatric lipidology at John’s Hopkins in Baltimore. I was instructed to get an appointment with him as quickly as possible. After many phone calls and a quick google search, I learned Dr. Kwiterovich had passed away several months prior. I was eventually able to track down the Lipid Clinic at the Johns Hopkins Children’s Center and get an appointment with another doctor working within the clinic. In December, we drove to Johns Hopkins and spent the better part of the day meeting with a doctor and nutritionist. It was then we learned that Avery has Homozygous Familial Hypercholesterolemia (HoFH). In short, Jason and I each carry one gene which gives us hereditary high cholesterol. This is called Heterozygous Familial Hypercholesterolemia (FH) . Avery inherited a gene from each of us, thus giving her the much rarer form, Homozygous Familial Hypercholesterolemia (HoFH). More about what these mean in upcoming posts.

Some of you have noticed my unusual behavior the past few weeks or months. You may have noticed puffy eyes, sunglasses on cloudy days, strange posts on my Facebook wall, or seen me sobbing waiting to pick up Owen from preschool. Many of you reading this will be learning this news for the first time. I hope this will help explain.

Thank you for sticking by us as we start a new chapter in our lives.

/michelle

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An article on the late Dr. Kwiterovich:

http://www.hopkinsmedicine.org/news/media/releases/johns_hopkins_pioneer_in_pediatric_lipid_disorders_dies