page contents
Masthead header

Category Archives: TPN

National Institute of Health Visit

02.19.18

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.

 NIH

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.

National Institute of Health

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.

C88EDE89-DC80-438E-BB7B-BEECFDD40244

C6498BCD-7C79-483F-8F51-4C104E86CA22

BBA78FE7-37A2-4F3B-8FAA-FAA61DB6933E

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!

 National Institute of Health

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
Filed in: diagnosis | genetic testing | port | Road trip | TPN

What Just Happened?

01.26.15

image

It has been a long road since my last post and we have only started this journey. In my last post I shared my drs news that I may have a carcinoid tumor and was in need of a test to find the exact location. The test is called an MRE, which is a fancy MRI with two different contrasts and a glucagon injection in conjunction with some advanced magnetic manipulation of your bodies cells. Due to my Mastocytosis and past reactions to contrasts the plan was to do the procedure under anesthesia, intubate me to protect my airway, place me in a ventilator, do the test and keep me on the vent until the swelling went down. Lee flew in from Oklahoma and took the whole week off not knowing what to expect. We drove five hours one way to the major medical center, checked into the hotel, and got ready for the weeks adventure.

Testing Day 1 MRE

I finally had the test and it went better than expected. I did not need anesthesia but they kept the anesthesiologist just outside the room just in case. I tolerated both contrasts well with premedication. Praise the Lord! We returned to the hotel for the evening instead of returning to the Panhandle area as was reccomended in case of delayed reaction. At 8pm that night I received a phone call from my dr. The MRE had revealed two masses in my intestines that were believed to be malignant. A colonoscopy was scheduled where biopsies would be taken.

Day 2 A New Feeding Tube

This was a pretty easy day. I ask if they would change out the tube without any anesthesia and they did. We went back to the room and watched movies and slept.

Day 3 Colonoscopy

It was a very busy day! A teaching hospital filled with students and a patient with two rare conditions caused lots of activity. After a long hard day the biopsies were not able to be collected as the tumors are on the outside of the intestines. I was kept overnight in the hospital for observation because my heart rate was elevated as I was coming out of anesthesia.

Day 4 What Just Happened?

At 10pm I received a phone call on my floor nurses phone while I was in the hospital. Another MRE was planned to check the liver and pancreas and see if the cancer has spread. They were going to come get me in the night and had a few questions. A consult with surgey was to follow the test to talk about obtaining the biopsies.

No MRE overnight. Blood work started the day off at 5:45 am and from that moment on the flurry of activity never stopped. Morning rounds, visits from the dietician to evaluate my malnutrition level, the TPN department to evaluate my current formula and if was meeting my needs, X-rays ordered to check my PICC line placement, I had no fewer than five blood draws, the admin lady came twice and never did get a chance to say little more than her name before another team would jump in. What began as a 24 hr hospitalization for observation ended with a conference with the chief of colo/rectal surgery who proposed a 2 week hospital stay, the removal of my ilium, cecum, and part of my colon, giving me a colostomy bag until my Mastocytosis inflamation went down (which would pretty much be the rest of my life as inflamation is a chronic standard with mastocytosis), staying on TPN, and not allowing any water by mouth or tube for the foreseeable future. She listed about 10 different reasons why I was going to be a very complicated case…… and that was just to treat one tumor. She was not going to do anything about the other. If there were any more tumors found in the liver or pancreas they would bring in other teams of doctors to handle those. They didn’t have TPN for me for the 2nd day and would not let me use my own. I checked myself out of the hospital against their wishes and we began the five hour trip back to the condo where I am staying.

Before surgery department could come I really felt like the Lord was leading me to begin the process to get into the New Orleans Louisiana Neuroendocrine Tumor Specialists. Lee called them and got me set up in their system. About an hour after leaving the hospital, I got a phone call from the specialists in Louisiana. They gave me a list of what records they would need. They are preparing an email for me with orders for additional tests needed. When I get all of my required info to them the team will review my case. They will either schedule me an appointment to see them, request more testing, or give me other guidance. If they agree to take me my appointment would be about two weeks later. I feel very good about this team and the treatment options they offer. They literally wrote the standards for neuroendocrine tumors. Although I hope I can get the needed tests and I will be accepted, I have the peace the passes all understanding. God has been very active and real through this whole process, I see his fingerprints everywhere and His whispers of love are continually in my ear. We arrived back at the condo and got a very good nights sleep. I am filled with hope as I continue to focus on who is really in control. My Father has got this, he tells me so everyday, all day long, everywhere I go like in these verses from 2 Corinthians 4:16-18 and this song from Mercy Me “Greater”. May you find your source of hope and healing from the Great Physician.

“That is why we never give up. Though our bodies are dying, our spirits are being renewed every day. For our present troubles are small and won’t last very long. Yet they produce for us a glory that vastly outweighs them and will last forever! So we don’t look at the troubles we can see now; rather, we fix our gaze on things that cannot be seen. For the things we see now will soon be gone, but the things we cannot see will last forever.”

Hope & healing,

Christal

Did you enjoy this post? Have future posts delivered via email

* indicates required

Email Format

The information contained on this blog is not intended or implied to be a substitute for professional medical advice. This is my experience and for informational purposes only. Please seek the advice of your physician regarding treatment for any medical condition.

Christal
Filed in: carcinoid | feeding tube | PICC Line | Things God is teaching me | TPN

Mast Cell Beach Experiment follow up & Illogical Faith

11.26.14

Hello all! It has been several weeks since my last post. I know many of you have contacted me and wondered what happened after the Mast Cell Beach Experiment. First let me say thank you for your well wishes and notes of inquiry. Sorry I sort of left you hanging 🙂

Mast cell beach

My husband flew rom Oklahoma to Florida and helped me gather up all my stuff. We left and began the long trek back home. We made our first pit stop at around mile 150. After we got back in the car I began to feel the familiar pin pricks and hot swelling in my lips. It had been so long since I wore a mask I forgot to put it on when we stopped. I would not make that mistake again. The closer we drove toward home the more itching I experienced. Gradually the nausea returned and about an hour south of the Texas/Oklahoma border I got a couple hives. Two days after being home all my previous symptoms had returned and a few new ones. I had to go back on all the medication I was able to get off of or decrease while I was gone.

Back home

It was good to be with my family but physically I was miserable. By day three I was bed bound again and felt like the life was draining out of me. It became apparent there was no hope of eating or even using a feeding formula any time soon. My husband looked at me and said “we’ve got to get you out of here.”. With cedar pollinating season fast approaching (my worst time of the year traditionally) and my peanut-like allergy to it, we knew we needed to act fast. We had been planning for all of us to move at the end of the school year but we had also planned for many possible outcomes upon my return. My need to move sooner was one possibility we had anticipated. The saddest part would be knowing my family could not join me for several months. Selling the house, getting new jobs for my husband and daughter (not to mention all it takes to be licensed in a new state), and my son finishing high school were all things that would keep the rest of my family in Oklahoma while I made the early move. Thankfully, I knew I had a place to go and that was one of the biggest obstacles. After nearly 21 years as an Air Force wife, I can say I thought I was well prepared for a move with only a few weeks notice but this move presented with several new challenges.

Get Ready…

There was much to do in a short time, I was feeling pretty rough and had very little energy to accomplish my daunting tasks. We needed to get all the normal moving things accomplished but also a whole list of medical considerations due to my condition. Step one: finalize my Florida medical team. I would need my lifeline and only source of nourishment, my TPN. This required a new medical team including a primary care doctor, a mast cell specialist, a hematologist/oncologist, an allergist/immunologist, a compound pharmacy to make my special medications, a home health agency to change my dressings, and an infusion pharmacy to make my TPN and deliver my accompanying supplies. I had done much of the leg work while in Florida but more work was still needed to finalize all the details

Get set….

I met with our realtor and got the big picture of what needed to be done to list the house. She loved the floors my hubbie and his uncle installed in half the house. We needed to pack some things for me to take, some to go to storage and some we could get rid of. I froze some meals for the freezer when I was feeling up to it, left lists of where to buy all their favorite gluten free foods and simply tried to spend as much time with my family as possible.

Mast cell road to healing

Go…

When the day arrived, we loaded up my “mommy van”, as the kids like to call it, and began the journey back to the sunshine state. We were officially on the road to healing. We had no idea a year ago how many times we would make this trip. Along the way it was good to have quiet time with my husband and to walk through detailed plans for the coming 6 months. We finally arrived at my temporary home. We were so blessed to be greeted by my girlfriend, Cheryl. Lee worked hard to get me all moved in and then flew back home.

The new reality

As a former military wife when you get the word of a move you get into a mode. You sort of disconnect and do what needs to be done. Very little emotion is involved simple because there is no time. When you are settled in your new place then the flood gates open. Leaving my children behind did involve quite a bit of emotion, as you can imagine, but with the very real possibility of not making it through another winter in Oklahoma, I knew I would be able to be a part of their lives better from afar. Standing at the airport holding onto my husband as tight as I could, the reality of the situation hit me. Together for the last time for many weeks we just sobbed. I was ugly crying for sure. We will see each other for Christmas we told ourselves but that was of little consolation at the moment. We said our last goodbyes. As I looked into my rear view mirror for one last glimpse of him before I drove away it hit me. I am insane! This makes no logical sence. I am a sick wife and mother who has just left her family and moved across the U.S. by herself. Of course I will have Cheryl and her family and my occasional friends we have become affectionately referred to as Christalsitters. But a hole was left in my heart that would not soon be filled.

Now what?

In the days ahead I would begin to enjoy a slow return of energy. I was happy to say goodbye to my masks and it was good to be able to get out more. I made the trip into Gainesville, with the help of my friend Lisa, to see my new mast cell specialist. My new doctor is pretty amazing. My new home health is on the ball as well. These things coupled with the beach give me reason for hope for the months to come.

Mast cell bubble

Finding your bubble

I understand that the Great Mast Cell Beach Experiment has helped many of you reconsider your environmental surroundings. Many of you are taking trips of your own and some planning moves to other locations where you typically do better. These are drastic measures for a drastic disease. Perhaps you do not have a madt cell disease but are being lead to something that is bigger than you can handle, something that is not logical. My best advise is to do what you need to live the life God gave you, pray unceasingly, and do your research.

Many people have said to me if you are allergic to the world maybe you need to live in a bubble. Most diseases are the same from one place to another, mast cell diseases are not always like that. For a disease that has no cure, avoiding your triggers becomes number one priority. If the house you live in or the part of the country you reside are part of the problem, you may have to consider all your options. If you are heat triggered then Florida, other tropical places and the desert will not likely be a good place for you. Transversely, if cold activates you don’t look north. Consider both what we call true allergies, ones where your body had made antibodies, and also those things that cause a mast cell response. You may be able to find your bubble or that little place that works just for you. On my recent trip to see my new doctor, who is located many hours from the coast, I did experience a return of several symptoms. So for me it is not Florida but rather the beach. While gathering all my records to move, I was reminded that I tested very high positive to all trees, grasses, and weeds. It occurred to me the beach is pretty much absent of those things, coupled with the ocean breezes and the healing properties of the salt water, my seaside retreat has become my bubble.

The Promised Land

All of this is to live the life God has given me, to be able to serve Him, to accomplish the opportunities He has given to me while I wait for the ultimate Promised Land. This may seem strange to us, insane in fact, but in some ways but it is just the way we should live. We have been given many examples in the Bible of people who did something in faith when it was not always logical. I will leave you today with some of my favorite verses from Hebrews that speak of this very topic.

Now faith is confidence in what we hope for and assurance about what we do not see. This is what the ancients were commended for. By faith we understand that the universe was formed at God’s command, so that what is seen was not made out of what was visible. By faith Abel brought God a better offering than Cain did. By faith he was commended as righteous, when God spoke well of his offerings. And by faith Abel still speaks, even though he is dead. By faith Enoch was taken from this life, so that he did not experience death: “He could not be found, because God had taken him away”. For before he was taken, he was commended as one who pleased God. And without faith it is impossible to please God, because anyone who comes to him must believe that he exists and that he rewards those who earnestly seek him. By faith Noah, when warned about things not yet seen, in holy fear built an ark to save his family. By his faith he condemned the world and became heir of the righteousness that is in keeping with faith. By faith Abraham, when called to go to a place he would later receive as his inheritance, obeyed and went, even though he did not know where he was going. By faith he made his home in the promised land like a stranger in a foreign country; he lived in tents, as did Isaac and Jacob, who were heirs with him of the same promise.For he was looking forward to the city with foundations, whose architect and builder is God. And by faith even Sarah, who was past childbearing age, was enabled to bear children because she considered him faithful who had made the promise. And so from this one man, and he as good as dead, came descendants as numerous as the stars in the sky and as countless as the sand on the seashore. All these people were still living by faith when they died. They did not receive the things promised; they only saw them and welcomed them from a distance, admitting that they were foreigners and strangers on earth. People who say such things show that they are looking for a country of their own. If they had been thinking of the country they had left, they would have had opportunity to return. Instead, they were longing for a better country—a heavenly one. Therefore God is not ashamed to be called their God, for he has prepared a city for them. ~ Hebrews 1.1-16

If you are a follower of Christ, what are you doing today to live illogical faith?

Hope and healing,

Christal

 

Did you enjoy this post? Have future posts delivered via email

* indicates required

Email Format

The information contained on this blog is not intended or implied to be a substitute for professional medical advice. This is my experience and for informational purposes only. Please seek the advice of your physician regarding treatment for any medical condition.

Christal
Filed in: beach experiment | Life with Masto | Things God is teaching me | TPN
M o r e   i n f o