Goodness gracious… Where to begin, where to begin? Well, for starters, it’s me… Yes, me, Sarah Kate!
My mama did a fantastic job giving you an update when I was unavoidably detained thanks to the complications of my recent central line placement. I wish that I could tell you that I’m typing away on my handy-dandy iPhone as per my usual. But no; both of my arms remain disabled, so keyboards are quite inaccessible to me these days. While this hindrance kept me quiet for a short while, I most sincerely appreciate the loving and encouraging messages that have been coming my way, so please don’t think that my silence was in any way indicative of ingratitude. Your words of support bring me joy and strength everyday!
I am optimistic that no such silence will overtake me on account of my arms again. Thankfully modern technology has presented a way for me to return to my writing and correspond once again with my friends whom I love so dearly! A phenomenal little thing called ”voice control” on a snazzy newfangled device called an “iPad mini” has proven to be a great blessing these past weeks. I know the Bible assures us that God always provides for our needs. Was it referring directly to iPads? Probably not. But hey! He’s a good guy, that God, and His love and provision transcend any generation gap!
Now, I am not going to belittle the pain and challenges presented by my current circumstances. Honestly, my head is still spinning as I try to acquaint myself with this somewhat unfathomable new reality. But before I get into all of that, let’s take a few thousand steps back and I will do my best to relate the complicated story of just exactly how I have come to find myself in this predicament.
Rewind to the summer of 2010. I was having a very tough time and barely able to eat; so the overwhelmin but necessary decision was made to have a feeding tube placed. The plans to make that happen were established, but before moving forward with that intervention, there were a few other matters that needed to be addressed. I fully intended to return for the feeding tube placement a couple of weeks later. But oh my, how plans can change! One fateful June day I had a lumbar puncture, a liver biopsy, and a port placement so that I could begin IV immunoglobulin (IVIG) therapy. To put it mildly, my body revolted. When I woke from the anesthesia, I was experiencing my typical painful paralysis. The hours following were brutal. I had two IVs placed in my right arm, which is bad news for someone with my pain condition, I couldn’t breathe due to an awful reaction to a caffeine infusion aimed at relieving my intense spinal headache, and I developed aseptic meningitis from the IVIG. It was bad, very, very bad.
Worst of all, my paralysis was not wearing off in its typical fashion. I was paralyzed for a week, and it took a full month for me to regain the strength to take the few steps to walk across the room. And, surprise, my right arm has been disabled ever since. And that aforementioned feeding tube placement? Never happened. An x-ray revealed that the radioactive isotope from my gastric emptying study performed several months earlier was still hanging out in my digestive tract, a discovery that clearly exhibited the extreme severity of my digestive tract paralysis. Such dysmotiliy would render a feeding tube useless, so putting me through another surgery would be entirely foolish. As a whole, the events of summer 2010 pretty much made for the sorriest “how I spent my summer vacation” essay ever. It would be a bit spicier had I mentioned the wild and crazy incident when Mom and I had the cops called on us in the hospital parking garage. But, oh! That is another story for another time.
So now that we’ve taken that sunny stroll down memory lane, which, incidentally, is perfectly relevant here, let’s jump to February 24, 2014, the day of my recent surgery to place a new central line. My anesthesiologist, Dr. Nikiel took very good care of me. A couple years ago when she did the anesthesia for one of my bone marrow biopsies she was so very kind and conscientious, researching the do’s and don’t's of anesthesia for mitochondrial disease patients. In a similar fashion, before this recent procedure Dr. Nikiel took the time to talk with my parents and me about the best plan in hopes of preventing my paralysis. In the past I have done well with ketamine and nitrous oxide, so she decided to take this route, only she used less anesthesia than usual, speculating that perhaps my paralysis might be directly linked to the amount of medication given. Normally I am completely knocked out during these procedures, but I was very aware throughout this line placement. Dr. Nikiel helped keep my mind busy though, as we planned tea parties, discussed my desire to ride a giraffe, and tentatively scheduled a future date to get together when we are both in heaven. Actually, I came back from the procedure on a first name basis with Dr. Nikiel, henceforth known as Sydney. I may have been more alert than usual, but yikes, I was nevertheless just as kooky as ever.
Somehow I managed to make this little shindig sound rather hunky-dory, but no, I can assure you that it most certainly was not. I guess I should chime in here with the more consequential details of that day. Unfortunately the plan to use less anesthesia was unsuccessful, and actually backfired to a certain degree. I presented with my typical paralysis. I also had a unique and unprecedented vantage point of my paralysis this go-around, however. First I should mention that ketamine infusions are ranked among the most successful treatments for my chronic pain condition, Reflex Sympathetic Dystrophy/Complex Regional Pain Syndrome (RSD/CRPS). My intense full-body pain that I feel every minute of every day because of my RSD felt somewhat better during the surgery! Presumably this brief respite could be attributed to the anesthetic. Interestingly enough, since I was very much aware throughout the procedure, I was able to feel the actual onset of my paralysis for the very first time. From what I could tell, the paralysis didn’t occur during the surgery itself. Rather after the anesthesia was stopped and any relief it offered began to fade away, my full-body pain came rushing back quickly and forcefully, and that was when the paralysis began. It felt like the return of my all-encompassing pain shocked my body into the paralysis. Poor Sydney. She had a most difficult time getting me out of the operating room because I was screaming in pain. It would be a shame for me to terrify the children, after all. She had to keep giving me more ketamine and nitrous oxide until the screams changed to show tunes. It was highly traumatic, nonetheless.
There was a silver lining, however. Now that I am beyond that crisis, I am grateful for the insight I gained from the incident. Before this procedure we really had no idea what was causing my paralysis. Could it be caused by the anesthesia, the pain medications, the trauma of the surgery itself? Of course we have no kind of testing to substantiate what I felt, but because of this experience we are led to believe that my RSD pain is very much a contributing factor to why I have paralysis.
I will spare you from the sordid details of the long and painful night following my line placement. Slowly my paralysis faded away until right about the 24-hour mark. I was weak, but I could walk, and I could move everything except my upper extremities. Unfortunately my progress halted then and there. My right arm been a mess for four years, so you know, whatever. But my left arm? Uh oh. Prior to my procedure I had a problematic IV in my elbow so it was necessary to place a new IV in my hand. In the hours following we had been concerned that my hand was wanting to clench into a fist and my elbow was excruciatingly painful, but we had hoped these problems would resolve along with my paralysis. However, by the time I was discharged from the hospital it was quite evident that my left arm was mirroring my right. RSD is a bizarre disease; it is not at all unheard of for an RSD sufferer to have symptoms spread from one extremity to another, forming a mirror image of itself. While my whole body is afflicted with RSD, it is very much exacerbated in my arms, and it has brought along with it severe dystonia causing my elbows to be fixed in a straight position while my hands clench into fists.
When I lost the use of my right arm nearly 4 years ago, of course it was a very big deal. It was highly disabling and difficult to learn how to go about daily life. I did, however, learn to adapt. In time I learned to sew and cook one-handed. I could still cuddle my puppy Alice Eloise, and I could throw a frisbee for her, a weighty criteria for capturing the heart of that sweet little Doodle. Naturally I hoped that there would come a day when I would be able to use my right arm, but I had gotten to the point where one-armed living had become entirely normal. But one arm is significantly more than zero arms. The morning following this recent surgery, I was hit with the harsh reality of new difficulties that I would be facing. I would subconsciously find myself ticking down the lengthy list of abilities, even the most basic daily tasks, I could no longer perform for myself. Of course sewing and cooking were out, but golly, I couldn’t even scratch my own nose anymore. And, oh my goodness! What would Alice Eloise think? It broke my heart that I couldn’t look forward to giving her a hug upon my return home.
The whole nose scratching thing I still have to figure out, but thankfully I had nothing to worry about when it came to my darling Alice Eloise. Right away she knew something was up. Dogs are quite perceptive, you know. But thank heaven I had already taught her how to give hugs! If I kneel down in front of her and ask for a hug, she lovingly places her chin over my shoulder in the most genuine and heartfelt snuggle one could imagine. And her Eskimo kisses? Oh, my heart just melts! With love like that, life is very, very good!
Really, that’s just how life is going right now. I am facing major pain and challenges, but God has been very good to compensate for the hardships with an abundance of blessings. I may not be able to throw a frisbee, but I can kick a ball! I can’t sew and cook, but I am tearing through books and flying through movies to my heart’s content. And while I can’t scratch my nose, wash my own hair, administer my IV medications, or really do any of the little necessities of my basic care, I am incredibly blessed to have family who selflessly help me each day. What do people do when they find themselves in a similar situation, but they don’t have such a support system? I mean, Mom is an exceptional nose scratcher. And Dad? He helps out a lot, and in a pinch, he can even put a bow in my hair. My family has given their all to support me these past years, and somehow within this past month they have stepped it up double. Let’s face it, I’m high maintenance! But for whatever reason, my family isn’t complaining. A simple “thank you” would not suffice to express my gratitude.
We have had every intention of getting proper treatment for my arm as quickly as possible, but it seems that nothing happens any too swiftly when it comes to such matters. Although it has taken time to attain appointments with the appropriate specialists, I haven’t been sitting idly at home, twiddling my thumbs (er, so to speak) while I wait. We have gotten into a routine in which everyday is a cycle of treatments that I can do at home. Donna, my friend Amy’s mom, has been an incredible and much-needed help, taking time out of her schedule to come to my house to develop a plan for my occupational therapy. I use a TENS unit on my arm multiple times a day. Then I cover my hands and elbow in paraffin… This is the one and only thing that actually doesn’t cause more pain when it touches my arm, and it is simply heavenly! I have also been doing treatments in my hyperbaric oxygen chamber. Have I ever mentioned that I have a chamber? Now the story behind that would make a very interesting “how I spent my summer vacation” essay. It’s far too lengthy to share here, but *SPOILER ALERT*, it involves alpacas!
I am scheduled to see a renowned RSD specialist in Chicago this coming Wednesday, and the following day I will be seen by a neurologist in the movement disorders clinic. I am praying that these doctors will be a good fit for me, and that very soon I will receive just the treatment I am needing. I wish my Alice Eloise was coming along with me, but she is still having such a time of it with her allergies, which in turn causes significant belly troubles. As much as I try to convince myself otherwise, a road trip for Alice Eloise could turn out to be a messy endeavor at this point. Not to worry, I am sure my service dog will be road trip ready eventually!
To put it simply, initially all of this madness seemed so very overwhelming. And yes, if I am going to be honest, a month later it remains plenty intimidating. But despite these feelings, I have a sense of peace and contentment I wouldn’t have thought I could muster under these circumstances. The reason being is that I alone could not muster any such serenity… But with the Holy Spirit in my heart, I have faith that I can handle these challenges. Joy is not purely a result of a person’s situation in life. Even though I have my moments of frustration, I know that God loves me and He alone knows what is best. Because of this assurance, I have every reason to keep on smiling!
“For I am the Lord, your God, who takes hold of your right hand and says to you,
Do not fear; I will help you.”
- Isaiah 41:13
Now, of course the world does not stop spinning because I lost the use of my “good” arm. Life is just as crazy in every way, as usual. So naturally I do have a bit more news to share with you. Whenever I went to Cincinnati Children’s Hospital last May, the doctor ordered complete exome sequencing, hoping to reveal an answer to any of the complexities of my illness. We were so very hopeful that we might finally have unequivocal evidence informing us why I have HLH, paralysis, possibly mitochondrial disease… We would be grateful for any answers really! After much anticipation, my test results have finally returned. And, drumroll please, the report has revealed… Absolutely nothing! What a bummer. Because the human exome is so complex, scientists can’t even begin to understand all of the possible mutations. Everyone has some mutations, so when the testing is being evaluated, they choose a few “candidate gene mutations” that they consider as possible causes of medical issues in that specific patient. So in my case, the candidate mutations were ultimately determined to be inconsequential.
Here’s the thing about exome sequencing: If someone else were to evaluate the data, they might select different candidate mutations and find something helpful. So basically my results don’t give us a “yes” or “no” answer, but more of a “Sorry, you need to keep searching”.
That is precisely what we have been doing. Sometimes we have trouble deciding which direction we must go. And to complicate matters, because of my medical complexity, not every doctor that I would like to see wants to see me. Such rejection kind of gives me a crestfallen feeling, not at all unlike the heartbreak endured when dumped by a dreamboat. But when it comes to both doctors and dreamboats, I have learned that when I come to a dead end, God is about to redirect me down a better road.
When I began having severe hematologic issues a few years back, I couldn’t find a local doctor to take on my case. I was too old to go to Children’s, and too bizarre to go to the adult side. After much research we decided to pursue an appointment with an expert at Johns-Hopkins. I remember how exasperated we were when we received a call informing us that the doctor whom we had so diligently searched out was going to pass me along to one of his colleagues instead.
But in hindsight it is easy to see God’s fingerprints all over this situation. I happened to be passed along to Dr. Arceci, a remarkable physician who has played a miraculous role in my journey.This is Dr. Arceci. With intelligence rivaling Albert Einsten’s and a smile as charming as that of Gene Kelly, he is a very special guy!
Upon meeting my parents and me for the first time, Dr. Arceci spent four hours with us discussing my unusual presentation. He clinically diagnosed my HLH, and without that guidance I am not so certain that I would have ever undergone the subsequent bone marrow biopsy that confirmed the diagnosis. We have always been amazed that any time we email Dr. Arceci we receive a response within minutes. Of course we don’t want to abuse that privilege, so we only contact him when we truly need his input. When we spoke with him a few months back we received some exciting news; Dr. Arceci was making a switch from being the director of pediatric hematology/oncology at Johns-Hopkins to transfer to Phoenix Children’s Hospital to oversee their hem/onc department and to also co-direct major research on real-time genomics.
You know… Genomics. Like genome. Like 100x’s more in depth than the human exome. Like, are you beginning to see God’s fingerprints, too?
The work that Dr. Arceci and his team are doing is innovative and promising, offering help to a lot of very sick kiddos in need of answers. Their goal is to use genomics in order to develop safe, personalized therapy in real time specifically for pediatric and young adult cancer patients. An article quotes Dr. Arceci as saying, “We all want to know what causes diseases and how we can treat them and I think it takes a special team of people to do this and it takes a lot of unselfish commitment.”
“Unselfish commitment” describes Dr. Arceci perfectly. Out of the goodness of his heart he offered to review the raw data from my exome sequencing to search out any mutations that might prove helpful in determining any additional diagnoses and potentially the ideal treatment for me. This is no small task! It takes hours upon hours of meticulous work to review this data. Recently we heard from Dr. Arceci, and he believes he found a significant mutation. He has requested that my local hematologist send another blood sample upon my return from Chicago in order to verify that this mutation is indeed present. Soon after we will be talking with Dr. Arceci to learn the particulars of these results. He hasn’t provided us with any details as of yet, but he believes it to be an”actionable finding”. I don’t know whether this is good or bad, but regardless, it is a relief to find answers. Once I have more information, you will be the first to know!
Because of Dr. Arceci’s unparalleled dedication and vast knowledge, he is just the doctor to take on complicated hem/onc cases for patients who are unable to find desperately needed answers elsewhere. And when he brings one of these patients into this life, they can rest assured that they are in his life for keeps. I can’t decide if he is like my guardian angel or my fairy godfather, but he has so reliably overseen my care from afar! When I saw him a few years ago, however, he did make a very valid point that I also needed a team of doctors close to home working on my behalf. Because of the multifaceted nature of my illness, it would be essential for me to receive comprehensive care from different types of specialists. To get this process rolling, Dr. Arceci made the connection required for me to be followed at St. Louis Children’s Hospital by my hematologist, Dr. Wilson.
While Dr. Wilson has been very kind to me, unfortunately the collaborative team of doctors Dr. Arceci envisioned never came to be. Because of my “old age” and complexity, many doctors and nurses within Children’s Hospital have not been so welcoming, making it impossible for me to receive anywhere near adequate care locally. Because of this we have made the decision to transfer my care. It seemed so incredibly stressful to take on considering all that has been happening as of late, but the day that I saw Dr. Hanson, my new hematologist, I was put completely at ease. He is one of the most compassionate doctors I have ever met, and he has a little thing called “common sense” that goes a long, long way when it comes to medical care. The hem/onc clinic itself is unbelievable… It has a Cardinal baseball theme, so naturally that makes it a winner. There are all kinds of rooms, with games, televisions, a playhouse, and slushy machines, if you’re into that kind of stuff. Or, if you’re like me, you can hunker down in your own little cranny for peace and quiet during treatment. I will actually be able to take Alice Eloise along with me for blood transfusions, and we can just relax and watch a movie! And the staff is ever so kind, focused upon administering only the best care for their patients. Even though it is a pediatric clinic, a substantial percentage of their patient base is comprised of kids around my age! Finally, I found somewhere that I actually belong! It feels like a dream, really, almost too good to be true.
But thank goodness it really is true! Would you like to meet Dr. Hanson? It is refreshing to find a doctor with such a caring heart.
In addition to being kind, caring, and exceedingly sharp, Dr. Hanson is also very brave; he voluntarily offered to quarterback my medical team! He would have to be quite a courageous spirit to accept such a challenge. In his first couple of weeks as my quarterback he has already assembled a group of pediatric doctors within his own hospital to contribute to my care. Within a week following my initial consultation with Dr. Hanson, we received calls from palliative care, gastroenterology, anesthesia, and a surgeon to make appointments. We couldn’t be more pleased with the remarkable care I am receiving, all right in St. Louis!
As crazy as it seemed to transfer all of my care at this very hectic time, surprisingly it has proven to be perfect timing, indeed. Unfortunately I am facing surgery once again; the cuff of my brand new central line is already slipping out of place! I met with the surgeon and anesthesiologist last week, and it appears that I won’t be able to hold onto this line for more than another week or two. Sometimes people with connective tissue disorders such as my own have trouble holding onto central lines. Additionally this is the fifth catheter that I have had in the exact same site, so we are thinking it is time to make a new tunnel tract entirely and use another vein. Considering the fallout resulting from my recent procedure, I’m sure you can imagine my enthusiasm… NOT!!! But I am relieved that I have already met the surgeon so that when the time comes to replace my line, all we have to do is call and I’ll be on the schedule right away.
Phew! Time to take a breath. But wait, hold on just a sec… How can one body have so much chaos going on at one time?! I know, I know, it doesn’t seem to make a bit of sense. Really though, after you have just read all of the above, do you honestly want me to sit down and “raise awareness” about my outlandish conglomeration of rare diseases right this very second? I thought not. It does, however, warrant a thorough explanation. All in good time, my friends! I will report back soon, hopefully with sensational news regarding my appointments in Chicago, and then I will see what I can do to make my case for all the crazy going on here. But until then, toodles!Sarah Kathryn Frey