National Insitute of Health

Most of you know, last year I had some genetic testing done and, in April, one of the genes came back for Polyendocrinopathy Syndrome (APECED). There are two adult syndromes and one childhood. My GI mast cell specialist contacted the National Institute of Health in Bethesda, MD to see if there were any research studies going on for that group of disorders and there was. They asked for my records to review and, in May, invited me for their next available opening, which was the beginning of February. This is an exceedingly rare opportunity and most people will never experience this. I wanted to write this blog post to share with all of you not only my experience, but also to provide hope for my many friends who read this blog who have a variety of rare diseases.

The NIH is the nation’s largest research facility and also cutting edge hospital with some of the world’s best experts. They specialize in rare diseases and also diseases that are resistant to treatment. Almost all known treatments for diseases today had their beginning at the NIH.
National Institute of Health NIH Trip

On the Road Again

The day finally arrived! I made the trip with my husband. It was a two-day car ride each way as I do not do well on airplanes. Thankfully, Lee doesn’t mind driving. We were concerned about winter weather potentially being a factor at this time of the year as they were expecting an ice storm, but we were covered in prayer and had no trouble at all. It was a pretty drive through many states we had never been to before. We did not have time for the usual sightseeing in the DC area as literally every moment was scheduled in the hospital. I really wanted to visit the new Museum of the Bible but that will have to wait for another time.

Security

We arrived just before dark and were surprised to learn we had to completely unpack our car of everything and go through X-ray. This was not unlike TSA at the airport but it was for everything in the car. Did I mention EVERYTHING in the car had to be X-rayed? We then had to obtain ID badges. We later learned that we could obtain a year pass that was more official and you don’t have to go through X-ray except this first time. We chose to do that, and it was well worth the time involved.

These might look like ordinary doors to you but to me, I see a rich history. I see the myriads of people who have entered these doors before me. I see the hope for a cure that they cling to. I see their relentless spirit and unwavering fight to make life fulfilling and to live the life Father God intended for them. I am overwhelmed and honored to be among them.

It is a beautiful building inside where the entire design was centered around the patients and their needs. The courtyards and gardens in the center of the building were planted to provide the optimal experience for those getting some fresh air. The patient wards are on the odd floors only, with all the mechanicals on the even floors as to not disturb patients with maintenance and repairs. You won’t find large doctors’ offices with window views; the windows are almost exclusively reserved for the hospital rooms while the doctors share smaller interior offices. For the staff, this is not a job with lots of money and perks. This is a government facility and, for the providers, this is their life’s calling. They are not driven by insurance but rather the science behind making their patients better.

TPN

There is a lot of artwork throughout the facility, including some interactive pieces. You can see I’m still connected to my IV nutrition. It’s called total parenteral nutrition or TPN for short. This is how I eat now. I have a port and TPN runs on a program fourteen hours a day. When I am out during the day I carry the three-liter bag in my backpack designed just for TPN. When I am at home and overnight my TPN is hung from a hospital pole.

I arrived at the NIH with a 4” binder full of medical records and image CDs, which helped the team tremendously. Sadly, that was just my records from the past three years. I have been battling illness, to some degree, for the last thirty years; however, my trip on the crazy train started about fifteen years ago. Needless to say, I have many volumes of records from a variety of doctors all over the US but I only took what I thought was most pertinent. The plus side of taking that volume of records with me was that the NIH doctors didn’t have to repeat the very thorough work up my referring doctor had already completed. I was thanked by every provider for bringing those records and I was surprised at how many of them read the entire thing!

Medical work up

Although much had been done in the years leading up to this trip, it was still a very full week.

79 tubes of blood drawn
458 lab tests…that we have results for so far, and many more in the coming months
Dozens of biopsies
2 CT scans
2 ultrasounds
EKG
Bone density scan
Microbiome sampled
Colonoscopy
Endoscopy
Pill camera – which was pretty cool tech for the photographer in me 😉
And much more.

Medical team

My team included three APECED specialists, a dentist, Sjorgren’s dentist, ophthalmologist, endocrinologist, hepatologist (a liver specialist), mastocytosis specialist, neuroendocrine tumor specialist, geneticist, gastroenterologist, multiple allergists and immunologists, dietitian, pastor, and about a dozen inpatient nurses. There was also a huge research team I met, and many more I didn’t have the pleasure of meeting, that will all be working hard for me for months or years to come

Rare diseases

Through this experience, I really learned the value of having a large team. The team worked together, and also off of each other’s ideas, and I benefited greatly from that approach. More progress was made in one week than in most years in the past. Often times people with rare illnesses think if they have a primary doctor that is all they need. These are great doctors doing great work but honestly probably not all you need. When doctors are in medical school, they are taught about all sorts of rare illnesses but then are quickly told that most of what they will see in their careers will be common, everyday ailments. They are told, “When you hear hoof beats – think horses, not zebras.” So, the majority of doctors out there are not looking for, testing for, or thinking about rare disorders. But zebras do exist. In fact, there are a lot of us out there. That’s why places like the NIH, Mayo Clinic, and hundreds of specialty clinics like The Center for Excellence in Mastocytosis exist. Even if you have a primary doctor and a specialist, it may not be enough. For example, according to the CDC, 29 million people in the US have diabetes, roughly 9.3% of our population. Unfortunately, diabetes is commonplace in our society. These patients should have a primary care doctor and an endocrinologist but may also need a dietician, podiatrist and ophthalmologist. Five doctors to manage one of the more common diseases in our society today. How much more help is needed when you have a rare disease that has most likely taken years to diagnose and progressively gotten worse?

Zebra among Zebras

One of the NIH specialists recently proclaimed “Christal, you are a zebra among zebras. You may be the only one like this in the nation.” I thought about that for a moment and replied “I’m not a zebra among zebras. I feel more like Bigfoot.” Bahaha! Since that time friends and family have made Bigfoot my unofficial mascot. This cute little guy accompanied us on the trip

Although you just have to laugh sometimes when dealing with such heavy matters as serious medical issues, day in and day out for years on end, you do need to also take a serious approach to doing everything in your power to get better and live your life to the fullest. With this in mind, I would like to encourage my fellow zebras out there to assemble a team to help you live life to the fullest. EVERYONE was happy, helpful, and so incredibly brilliant. We are so very impressed with how well run everything is. The normal stay is four days but after reading my records they knew I needed six days at least. Once I was there, they asked me to stay longer but I was unable to. My local doctor will finish up ordering some MRIs and nuclear medicine tests that we did not have time to finish before discharge – mostly due to the metal pill camera that captured more than eight hours of video. She will send the results on to my coordinator and everything will undergo a final review from the team before they make a report and send it to me. Many of the tests that were performed while I was inpatient are genetic and take a couple of months to obtain the results.

If you would like to learn more about the National Insitute of Health and some of the work they do there, you can watch Discovery Channels three-part documentary titled “First in Human.” Narrated by actor Jim Parsons from “The Big Bang Theory,” and filmed at The National Institute Clinical Center, or Building 10, which is where I was. The story follows four patients who are participating in the first in human trial, the very first time a treatment is tested in humans. I did not participate in any trials during this visit as they are still diagnosing all my conditions but several of my providers were in the film. Most cable companies offer this series free on demand if you have Discovery Channel.

I have been discharged from the hospital and I am back home in Florida recovering. They have some basic answers and direction on some of the more prominent symptoms but it will take time to confirm. If there is one thing I am learning through all of this it is patience. I’m ok with waiting for a little bit. The last thing I need at this point are more misdiagnosis. It appears there are several rare conditions going on simultaneously that need to be untangled. Later this month, I will be the topic of a conference where many allergists and immunologists will see if they can figure out some of the bigger immune problems. I am filled with hope as the days pass and I continue to receive results. I leave you with these verses from Romans 15; they are what I cling to today.

For everything that was written in the past was written to teach us, so that through the endurance taught in the Scriptures and the encouragement they provide we might have hope. May the God who gives endurance and encouragement give you the same attitude of mind toward each other that Christ Jesus had, so that with one mind and one voice you may glorify the God and Father of our Lord Jesus Christ. May the God of hope fill you with all joy and peace as you trust in him, so that you may overflow with hope by the power of the Holy Spirit. Romans 15:4-6,13

Hope and healing,

Christal

Allergic to the World

Category Archives: port

National Institute of Health Visit