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!

 

A new day. A new doctor.

After the enormity of everything began to sink in and we began doing research, we decided we wanted to get a second opinion.  Although John’s Hopkins is regarded as one of the best hospitals in the United States and we were pretty sure she would be treated by some of the best doctors available, in this case, it was important to us to get the opinion of another doctor.  We would do anything if it meant it could save our child.

We were beginning to realize the severity of Avery’s illness and were desperate to locate a doctor who would provide the absolute best care and expertise.  We began asking friends to reach out to anyone they knew who might know someone who might know someone.  We were lucky enough to receive the recommendations of several doctors in states within a few hours drive or flight, but after doing some research, we decided we would like the opinion of Dr. Samuel Gidding at Alfred I. duPont Hospital for Children in Wilmington, DE.  He had agreed to see Avery (and had provided his personal office number to contact him).  How many doctors give you their personal line?!

Just one glitch.  When we went to set up the appointment we learned that the hospital where Dr. Gidding is located doesn’t currently participate with our insurance company.  We didn’t see that coming as this was the first time we had ever tried to use our insurance and learned that the provider didn’t participate with them.  Then started the phone calls with the doctor’s office, the registration department, the insurance coverage department, the scheduling department, etc.  Although the doctor had held an appointment time for us in his schedule, we couldn’t officially book the appointment until we had guarantee of insurance coverage.  We were positive we had out-of-network benefits, but  apparently they had been dropped at some point and we hadn’t noticed, until now, when we desperately needed them.

I started making countless calls to our insurance company to see how we could get begging them through tears to somehow extend coverage to us.  After giving our information to several people each time I was transferred, I was finally told we could apply for a “gap exception”.  Basically, we give them the name of the out-of-network physician we want to see and they review the file to see if there are any physicians within a 25 mile radius from us who are in-network and could treat her.  I tried to explain to the girl on the other end of the line that this wasn’t the typical high cholesterol.  This was like high cholesterol on steroids.  Though I could hear in her voice that she was not impressed by my plea.  We were dealing with something many medical professionals have never even heard of, let alone knew how to treat.  Sure, there may be 150 doctors within 25 miles of us that they deem “qualified” to treat Avery, rather than the one 164 miles away.  Well, I thought the chances of us getting approval was slim to none.  I’m sure there were many, many doctors closer who are in-network and if the person reviewing our request doesn’t understand the severity of HoFH, we were not going to get the approval needed.

Of course everything takes forever with insurance companies, so we decided we were going to see Dr. Gidding at any cost and would pay out-of-pocket if insurance was not going to assist us.  So, on January 26th we traveled to Wilmington to meet with Dr. Gidding for the first time.  He was wonderful with Avery and the boys, who we took with us due to the distance we had to travel and not being able to get them to and from school at the appropriate times.  When examining Avery, he found thickened elbow and ankle tendons and an xanthoma on her elbow, both are characteristic of HoFH.  He also found she had a heart murmur.  (None of these findings were noted by the doctor we saw in December at Johns Hopkins).  After examining Avery, he suggested the kids go out to the children’s play area in the waiting room (where several nurses and office staff watched and entertained them for probably an hour) so we were able to devote our full attention to discussing Avery’s condition.  Thankfully, we had heard much of it several weeks before from the doctor at Johns Hopkins, though as I sat there hearing the words spoken again, the tears started streaming, despite my best efforts to remain composed.  The last thing you want for your child is to hear they will need countless medications, repeated sticks for blood work and imaging procedures, invasive treatments (such as LDL apheresis, where a port would need to be installed, often in the chest), an a liver transplant is suggested as a means of giving her a more stable, “normal” life.  However normal your life can be after you receive a donated organ.

Because her heart murmur could be a sign of a more serious issue, Dr. Gidding ordered an echocardiogram to be done immediately.  We let the conversation all sink in while Jason went to check on the boys and I prepared Avery for her echocardiogram.  Avery was great during the echo, though totally quiet and I wondered what she was thinking about all of this, as I always do.  I asked her how it felt when she was done and she said it was ok, but it hurt when the technician was pushing on her chest, though you would never know it by her demeanor.  The echo showed mild aortic stenosis (narrowing of the aortic valve), and once again we were thankful Dr. Gidding caught this.

That about sums up our visit.  We left there after about four hours, hearing some of what we had heard several weeks before, but now learning that her condition must be treated much more aggressively than we were previously led to believe, and additionally, learning about the added heart murmur and aortic stenosis.  We were emotionally drained and exhausted.  We had planned to drive home that evening, but instead booked a hotel room and stayed the night, hoping the morning would bring a renewed spirit ready to tackle whatever came next.

And…..in case you were wondering…..

A few days after returning home we received a letter from the insurance company.  I was VERY pleasantly surprised to find out we were granted approval for three office visits with Dr. Gidding.  Finally, some good news when all we had heard in the past several weeks was bad news and worse news.

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!

Entertaining strangers

In life, as changes are made, it becomes clear who will walk beside you, and who will just walk away.  Two years ago, when we made the choice to send Avery to a private Catholic school, some friends walked away.  A year ago, when we made the decision to send Owen to pre-k at the same school, some friends walked away.  I may have lost friends when we moved our children to a different school, but I’ve met so many new people because of that change.

I’ve said so many times since starting my own business eleven months ago, if you want to see who truly supports you and will be there for you, start your own business.  Most friends weren’t my best customers.  In fact, most friends wouldn’t even help me get my business going by hosting a party to help me grow my network.  Think of each friend you know — maybe 200….maybe 500….and then each one of those friends knows another 200 or 500 people.  Those connections could really help a friend who’s just starting their own business.   I have always tried to support small businesses, especially when they were run by my friends.  I shouldn’t expect anything in return.  Lesson learned.  But, because of my business, I have had the opportunity to meet countless women across the United States.  I was able to enjoy a vacation with my family traveling to a state we’d never been to as well as spend several days with other entrepreneurs learning, networking and filling my cup. I’ve had an excuse to regularly get out of my house and spend a few hours with some great groups of ladies.  I’ve had an actual job and for once I didn’t hate it… I haven’t done that in almost ten years.  I’ve formed relationships with vendors I’ve met at various events and I’ve met lots of wonderful customers.  Most importantly, I’ve made some truly wonderful friends all over the US, some of whom I talk to several times a day.  And to those friends, I couldn’t have made it through the past few months without you.

Since learning of Avery’s diagnosis, we have gone in search of other people who have been diagnosed with HoFH.  People who could tell us, we hoped, that everything we were reading about HoFH wasn’t true.  That our daughter would live past 20 or 30 years old.  That we wouldn’t have to worry that she could have a heart attack at any time.  That she wasn’t looking at a life of multiple medications with god only knows what side-effects.  That she would have to go through a blood cleaning process for hours every two weeks.  That we could all just go back to the way things were a month ago.

Well, we haven’t met anyone who has been able to turn back the clock or predict the future, but we have connected with some wonderful people.  Moms and Dads of children living with HoFH.  Several grown men and women (yeah!) living with HoFH.  And, many other individuals living with and/or caring for someone with FH.  These people have reached out to us in multiple ways and shared their stories.  They’ve invited us to reach out to them any time for help, information, someone to talk to, or someone to cry with.  Total.  Amazing.  Strangers.

I’m a true believer in God placing people in your life.  Friends come and go.  Someone who was with you through one season of life may not be there for the next.  As one person moves on another person enters your life.  Good and bad, people surprise me every day.  It’s amazing after almost 40 years on this earth how much you still can learn from mankind.

Turn that frown upside down

Today was a terrible, horrible, no good, very bad day.  It started off ok taking the kids to school, but went downhill from there.  In the morning, I had a check-up with my regular doctor, and as she’s known me since before Avery was born, I told her about Avery’s recent diagnosis. I quickly realized what I had been warned about was true.  That even in the medical community, many know very little about FH and even less about HoFH.  She suggested a vegan diet may help.  I told her we had met with a nutritionist assigned to Avery at Johns Hopkins for about an hour after we met with the doctor there and were following her advice as a family.  I asked if she knew of any doctors at any of the more well-respected hospitals in the area specializing in pediatric cardiology and/or pediatric lipidology fields as we weren’t sure the doctor we saw at Johns Hopkins was the best doctor to treat Avery.  She suggested that there were probably a handful of doctors specializing in these fields across the US, which we already knew was the case.  With a diagnosis like HoFH, it was very important to us to find a doctor who not only knew what HoFH was, but to have the specialized knowledge to effectively treat it.

Ok, so that was a frustrating and discouraging conversation. I left the doctor’s office and sobbed all the way back to town and then went home and cried some more. At dismissal time, I drove to the preschool and proceeded to sob and sob in the car while waiting to pick up Owen.  The other parents must think I’m nuts.  I waited until most of the parents were walking back to their cars with their child before walking up to get Owen.  That’s when I made the mistake of trying to ask his teacher a question and began sobbing again.  This time big, ugly, loud sobs. The poor middle schoolers down the hall must have wondered what a sea otter was doing outside their classroom.

I spent the rest of the day crying off and on and then crashed by early evening, totally exhausted from my emotional rollercoaster of a day. Tomorrow’s a new day, right?

I sit and stare

I’ve caught myself doing things recently that I don’t recall doing with such frequency in the past.  Mainly, I sit and stare at Avery.  Over and over, I watch her getting ready for school each morning and doing homework each afternoon.  I watch her getting ready for ballet and getting ready for bed each night.  I watch her play with her brothers.  I watch them chase each other, laugh with each other, fight with each other.  I watch her walk down our front walk to the car in the morning, and run up the walk to our house each afternoon.  I watch her walk into school each morning, hoping she’ll be ok.  Wishing I could stay with her each minute to keep her safe even though I know the reality is not much I do can keep her safe.

It’s almost like I’m trying to commit everything to memory, afraid one of these days it could be the last.  The little moments of each day have become the moments I don’t want to forget.

Something new everyday

Everyday I learn something new about this disease.  The day we went to Johns Hopkins to meet with her doctor, I learned that the chance of being diagnosed with HoFH is 1 in a million.  I learned there are approximately 400 people living with HoFH in the United States.  I learned that diet and exercise, although important for those diagnosed with HoFH, will have little effect on her overall numbers and do little to improve her prognosis.

About a week or two after she was diagnosed when I went looking for others who were diagnosed with HoFH, I learned there were no Facebook pages or groups specifically for Homozygous Familial Hypercholesterolemia.  There are however, a total of three Facebook pages on the topic of FH, including a discussion group with, as of this posting, 379 members.

Today, I learned that our library has zero books on HoFH and zero books on FH.  Zero. Zip. Nadda.

Really?!

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.

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