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.

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?

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