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

#RareDiseaseDay2015

In honor of #RareDiseaseDay2015, the FH Foundation has created this beautiful infographic about HoFH.  Click on the word “infographic” above to be taken to the file on their page with live links.  #ShareRare

“It’s important to remember that HoFH is a serious and life-threatening medical condition. HoFH leads to progressive and early heart disease in men and women, as well as boys and girls. Serious heart valve narrowing can cause heart attacks in people under the age of 10! That’s why if you or your child are diagnosed with HoFH, one of the first steps to take – as soon as possible – is to consult a lipid specialist.”

What’s next?

When you learn your child has an illness, your initial parental instinct is to make it better.   When I learned Avery had HoFH, I’ll admit, for whatever reason, I didn’t immediately delve into how to make it better.   I knew I couldn’t.  We immediately made changes in the foods we purchased and ate, but I put off actually researching the disease.  Part of me knew it was serious, but was in denial.  The other part of me knew it was serious but had no idea just how serious.  Until I began doing research.

Then the real frustration began.  I began where everyone in the modern age begins — with a Google search.  I typed in “homozygous familial hypercholesterolemia“.   Up pops 145,000 results.  Ok, good, that’s promising.  Very quickly I noticed that unlike most things you type into a Google search bar which have pages and pages of websites for you to peruse,  the initial pages that popped up in my search were websites citing papers and research written by doctors for doctors.  Research papers written for medical journals, often which the general public doesn’t have access to, and even when they do have access, much of the information is written for the intended audience of doctors, not the common person.  There were pages citing the newest research, treatment recommendations and articles on the newest drugs to treat HoFH written by pharmaceutical companies, again oftentimes written for the medical community, not the common person.  There were a few of the usual consumer websites (emedicine, wikipedia, etc) mixed in which do provide some general information, but not a whole lot.  Overwhelmingly there were very few results written for the general public in language we can easily understand.  Thankfully, I did stumble on one website, the FH Foundation (www.thefhfoundation.org), written for the patient or caregiver of those with FH or HoFH.   Let me repeat that.  One website.   I’m not saying there aren’t other good sites out there.  But as of now, I haven’t found them.

For anyone dealing with the diagnosis of FH or HoFH, let me say, the FH Foundation has been an invaluable resource.  Much of the information you need to gain a basic understanding of these diseases can be found on their website.  If you want to know what all these terms your doctors are using mean, check out their Glossary of Terms.   Want a list of resources?  Check out their Resources page.   There is also a Facebook group to compliment the website and provide a community for those living with FH and HoFH to share their experiences, get support and ask questions.   The few Facebook pages I have found (see Resources tab), along with the people there, have been some of the most help to us since learning of Avery’s diagnosis.  Go check them out!

 

Join the HoFH Community

As promised, here is the information to join the HoFH Community. If you have been diagnosed with HoFH or are the parent of a child with HoFH, email them today to be added to the community!

Please note, I have no personal relationship with the FH Foundation nor do I stand to gain anything from this recommendation. 

For those keeping track

For those keeping track, so far I have found:

• no books at our local library
• one website (www.thefhfoundation.org) focusing on providing information for the patient
• three Facebook pages/groups for the patient and/or caregiver of those with FH or HoFH
• Additionally, most of the information I have found is highly focused on FH with very little information about HoFH specifically

Good news though!  The FH Foundation is currently in the process of creating a community for those affected by HoFH.  More on that soon!

Homozy whaaatttttt?

As promised, here’s a more in-depth overview of what HoFH is…

Familial hypercholesterolemia or FH is what Jason and I have, what Ian has, and what many people in our extended families have:

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19. The defect makes the body unable to remove low density lipoprotein (LDL, or “bad”) cholesterol from the blood. This results in high levels of LDL in the blood. High levels of LDL cholesterol make you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.

This is describing Homozygous Familial Hypercholesterolemia, or HoFH, which is what  Avery has:

In rare cases, a child may inherit the gene from both parents. When this occurs, the increase in cholesterol levels is much more severe. The risk for heart attacks and heart disease are high even in childhood.

source: http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm

More on HoFH…

There is no cure for homozygous familial hypercholesterolemia, the most severe form of FH. This extremely rare form of the disease occurs in less than one in a million people… Most treating physicians prefer to try oral medications as their first line of defense in cases of homozygous familial hypercholesterolemia. One powerful approach combines high level doses of statins with cholesterol absorption inhibitors. In some cases, this approach is successful, but because the prescription drugs are administered at high dosages, the treatment has to be closely watched by the prescribing doctor. Children with homozygous familial hypercholesterolemia have to monitored even more closely because the high doses can be hard on their systems. 

Some people with homozygous familial hypercholesterolemia aren’t helped by medications. For them, other treatment options are available, although they are more drastic. One option for homozygous familial hypercholesterolemia treatment is apheresis, a treatment which filters cholesterol out of the bloodstream. It’s similar to kidney dialysis and has to be done on a regular basis to be effective. Apheresis is often an out-patient or clinic procedure that takes several hours each time. For those who don’t respond to medications or those who have to have apheresis treatments on a frequent basis, a liver transplant is sometimes recommended by homozygous familial hypercholesterolemia specialists. Finding a donor match is often the greatest hurdle for these patients.

Source: http://thefhfoundation.org/homozygous-familial-hypercholesterolemia/

And we now pause to let that sink it. WOW.