Sara Syndrome

I have had medical problems since high school, with some issues starting to arise in middle school, and my family, friends, and I always joked that I was not sick in the traditional sense of the word, but rather that I was "Sara Sick". This simply meant I did not have an identifiable illness or condition, but I did not feel well. At the time I could have never guessed how accurate this statement could be!!!

My wonderful neurosurgeon Dr. Rekate at The Chiari Institute in New York has actually named a syndrome after me! He has begun researching what is called Sara Syndrome. A syndrome simply means "a set of medical signs and symptoms that are correlated with each other". In this case there are 5 signs and symptoms that make up Sara Syndrome: Ehler's-Danlos Syndrome, dysautonomia, pervasive pain/fibromyalgia, Chiari 1 Malformation, and craniocervical instability. Many patients have one or more of these conditions, but his theory is that when a patient has all of these conditions, as I do, there is something more going on. He theorizes that Sara Syndrome is a genetic condition that is not yet discovered that encompasses all of these conditions. I was one of his first patients with all of the conditions fairly severely and after meeting with me his interest was sparked enough to begin researching this new syndrome. 

Here is a video of a talk that Dr. Rekate did on Sara Syndrome (the name of the video is spelled incorrectly) if you would like to get more information on this topic. Also, as a clarification I do still have my port and do IV fluids on a regular basis. Even brilliant men get mixed up sometimes ;)

I am so grateful to Dr. Rekate for everything that he has done for me and the quality of life that he has restored to me. I feel incredibly blessed that not only have I been able to receive a new quality of life, but my journey has helped other people to get the care that they need as well. My medical journey and conditions are helping Dr. Rekate help other people and for that I am eternally grateful. To this day, nearly 2 years after initially meeting Dr. Rekate, he continues to explain to patients about Sara Syndrome and how it affected me and my journey. I have other people contact me and ask for information and support because they have found me through various groups on Facebook. For anyone needing support for any or all of these conditions please feel free to contact me and I will do my best to help in any way needed!

GI Update

So this is one long overdue update! Life has been a little bit crazy (not medically thankfully!). I got accepted to University of Cincinnati's Speech-Language Pathology program back in August, which means we are moving from Chicagoland to Cincinnati!!! I will start the masters program in January and it will take me two and a half years to complete, which means I will be done in August of 2018. That sounds like a very long time away, but I am sure that it will fly by! Given this exciting new life event my husband and I have been trying to buy a house in Ohio, sell our house in Illinois, get jobs transferred, get my schooling set up, and essentially transfer our whole lives two states over! Thankfully through this ordeal I have been relatively stable medically!

The one aspect that I have been struggling with is my GI status. I got in contact with my GI doctor (who I am not overly fond of) back in June when I was strugggling with side effects from the medication that makes my stomach empty faster and he said that I need to cut down on this medication (domperidone) in order to decrease my prolactin levels. This medication is the medication that allows me to eat adequately, not have severe nausea constantly, decreases bloating, and helps ease abdominal pain.  I was on 10 mg 4x a day and he wanted me to cut it down to 10 mg 2x a day. This is not feasible for me as I cannot go that long between taking it, so I am taking it 5 mg 3x a day and 10 mg 1x a day. This is not ideal, but we had hoped it would help to lower my prolactin levels and allow me to have fewer GI symptoms (though they are worse than when I was at the higher dose of domperidone).

Since I was not overly thrilled with this GI doctor I got the name of a new GI doctor from some other gastroparesis patients. I was able to see him in July and he ordered a whole slew of tests (the k-mart blue light special the nurse called it). He wanted to confirm that I did indeed have gastroparesis since we had never done the test to confirm it, we had only assumed based on my medical history and symptomology.  I had a CT scan, a gastric emptying scan, scopes, and manometry (measures how strongly your GI tract contracts) done. All of them came back mostly normal, except for the gastric emptying scan.

This scan involves eating radioactive eggs and having your stomach scanned every hour for four hours to see how fast the eggs move out of your stomach. I had to be off of my domperidone for this test. It was a long few days without the medication, but the test gave us some valuable information. Below are the results of the percentage of the meal I digested versus the amount that is considered "normal".

Time      Normal        Me
1 hr         10%+           13%
2 hr         40%+           28%
3 hr         70%+           28%
4 hr         90%+           50%

As you can see I was fine at 1 hour and not too bad at 2 hours, but after 3 hours my digestion had slowed down remarkably compared to what is considered normal. Side note, this is why you should always request the 4 hour test and NOT the 2 hour test because many cases of gastroparesis are missed if you do not scan for the full 4 hours. You should have the vast majority (if not all) of your food digested 4 hours after eating, but my sluggish stomach only digests 50% of my meal.

We learned from all of these tests that the rest of my GI tract does its job and is not snail paced and there are no other identifiable issues going on in my GI tract. With this being said the question of the day is what to do about my super slow stomach. I saw my new GI doctor again this week and he gave us a few different options. He agrees that I need to get off of domperidone because of the side effects. The bad news is that there are very few other medications that help to speed up your stomach. He gave me a prescription for two other medications, but neither of them are ideal. The one I am going to try first is called erythromycin. It is an antibiotic so that means I will probably build up a resistance to it. Most people do well on it for a couple of months and then the efficacy goes drastically down. It is a good short term solution, but probably not the best long term solution. The other medication that I can try is called Reglan. I am not so keen to try this medication because it can cause permanent neurological side effects. Some patients develop a parkinson like muscle twitch (tardive dyskinesia) that does not go away even after discontinuing the medication. I am not so keen on the thought of more permanent neurological damage above and beyond what I already have, so I am going to hold out on this medication until there are no other options.

Another option we have is to look into is a gastric stimulator. It is a device that is surgically implanted and stimulates to help the stomach contract and pass food through more efficiently. We are not sure if I will be a candidate for this device or not because one of the number one things that this device is shown to help is vomiting and I do not have a problem with vomiting excessively. It does also help nausea, pain, and the early feeling of being full. I am going to contact Cleveland Clinic, which is the location closest to me that implants the device (it is a newer device and not many places perform the surgery) and set up a consultation with a surgeon to see if he/she thinks I would benefit from the device and if I am a candidate for the surgery.

I also had to get an EKG (heart study) done because both the domperidone and the new medications can effect the rhythm of the heart so we need to make sure that I am not having any issues with that along with the more obvious side effects. I do not think I am having problems with my heart and my previous EKG's (last one was in February) have always been fine, so I am not too concerned. I will also have blood work done next week to check some things before we start the erythromycin.

Well I think I will leave that terribly long GI update there for now until we get some more information and I can meet with a surgeon at the Cleveland Clinic. I will write another update on the rest of my medical on goings when I get some time, but there is not too terribly much to update on that front!

Sleep Study, PT, and GI Issues

Hi everyone :)

I mentioned in my last post that I needed a sleep study to rule out sleep apnea. I got that test done and thankfully I do not have sleep apnea, which is a great sign because with all of my neurological damage we were worried I might. I do have some degree of insomnia, which we knew, so I am working with a sleep specialist to get some tips on improving my sleep. It was also found that I have a minor case of restless leg syndrome, so I need to get my ferritin (iron) blood levels checked because if my ferritin is too high it can cause restless leg syndrome.

It is great news that I do not have sleep apnea, but now we are stalled out on how to treat my increasing jaw pain. My insurance does not cover TMD (temporomandibular (jaw) dysfunction) treatment; there is a specific clause in my insurance excluding that condition. We are not sure yet how to proceed from here and are looking into a number of different options to find the best option for me with my EDS and that works with my insurance.

I have started working with an EDS friendly physical therapist, which has been a huge blessing! She is helping me strengthen my core in order to better support my entire body, increase the muscle strength (safely) of my arms and legs to protect my joints, and learn to be more aware of safe and effective positioning of my body in order to prevent injury. She is very patient and helpful with everything and is extremely aware of how my EDS affects me and how far she can push me without causing more harm than good. I am seeing her once a week for the next several weeks, as well as doing home exercises, and then we will evaluate to see if I can decrease the frequency that I see her.

I had another round of blood tests (some routine and some that we haven’t checked in a while), but I have yet to get those results back as we are having trouble getting them to the specialist that ordered them. Hopefully I can get that sorted out this week!

Unfortunately I have been having side effects from my GI medication, Domperidone, that decreases that amount of time my stomach takes to digest food. This medication is wonderful and has really allowed me to eat again, but unfortunately it raises your level of a hormone called Prolactin. This hormone is secreted in breast-feeding women, but should only be present in low levels otherwise. It is causing me issues with mood swings, breast tenderness, headaches, and amenorrhea (lack of a menstrual cycle). There are also concerns that the pituitary gland (located in the brain) may swell if your Prolactin levels become too high artificially, which may attribute to the increased headaches I have been having. I have contacted my GI doctor about this, but have not heard back yet. I hope that I do not need to discontinue this medication because it has really helped me bring my nutritional status back up to nearly normal and decreased my nausea, discomfort, and abdominal pain upon eating dramatically! We will see what he has to say, but I would appreciate prayers that this comes to pass and that we find a good solution to this problem!

I have an appointment next week with my insomnia specialist to discuss the changes we have made to sleep schedule and take a look at the sleep logs I have been keeping. We are not adding in any medications for sleep, but rather are working on behavioral modifications to try to prevent the nights when I am up for hours and cannot fall asleep. So far it has really been helping!

Then the following week I have an appointment with my ear, nose, and throat specialist for my annual check up. It is normally a very quick and easy appointment. I do have a couple of concerns as I have had two sinus infections since I last saw him and I previously had not had any since my sinus surgery in 2012. I hope it is not a sign of my polyps returning, but I have also had increased pain in my sinuses. Prayers that everything is ok on this front would also be appreciated! I will then have to redo my allergy testing (a very itchy experience!!!) in October to see if my allergies have changed and if the serum for my allergy shots needs to be modified.

That is everything I can think of for now… Oh! My service dog, Reilly, got skunked straight in the face the other day :( The poor guy has had so many baths and he and the house still smell slightly of skunk! Well, what can you do? Never a boring day around here, that is for sure!!! I will update again after I get my results back, hear back from doctors, and attend some appointments!

Marco?

Wow! Long time no talk everyone!

Let's start with the very best update from me medically and for life in general :) I have a new partner in crime!

This adorable face is my new service dog, Reilly! He has been with me since December and is for mobility and balance. He helps me to get on and off the ground, picks up dropped items, helps me up and down the stairs, supports me when I am standing still, catches me if I stumble, gets my water bottle and medications for me, and so much more! He has helped me to become so much more independent and confidant! I am so thankful for everything he does for me and the support (both physical and emotional) that he is constantly providing me!

Another huge life update for me is that I am working FULL time! Yep that is right 37.5 hours a week :) I am a teacher assistant in a special education setting for students 18-22 years old. I LOVE it! It is so nice to be working and I absolutely adore working with students! If you were to ask me year ago if I thought I would ever be working full time I would have laughed at you because of how poor my health was! Now I am doing it, yes it is tough sometimes, and enjoying every second of it! I am also applying to graduate school for speech-language pathology! If I get into the program I applied to (which I won’t know for a while still) I will start in January. This is another huge step that I did not think I would accomplish in my life because of my health, but there is no doubt in my mind now that I can handle it!

As you can probably tell by the tone of this post so far I am doing VERY well medically. I am feeling great and the vast majority of my symptoms are stabilized by my various treatment methods. My medications have not changed much since I last updated with the exception of getting the GI medication that is not FDA approved. We ended up ordering this medication (Domperidone) through Canada and it has been a complete blessing! I am able to eat with few restrictions and am not nauseated nearly as often. I still cannot eat large meals and struggle to eat out, but overall my GI issues have been greatly improved!

I have had no major injuries or illnesses that have had lasting effects! I had one sinus infection and upper respiratory infection over New Years, but that cleared up with some antibiotics. I do not have any surgeries scheduled or even being talked about! That means we are nearing one-year surgery free!!! This is very exciting and has not happened for a few years now :) I am doing very well after my last 2 neurological surgeries and my symptoms have been greatly reduced. I just had a round of blood work (thyroid, electrolytes, vitamin D, and CBC) along with an EKG to check my heart rhythm and all of these tests have come back normal. I haven’t had many doctors’ appointments, which has been very nice!

I did have an appointment with a TMJ specialist who confirmed that my jaw joint (TMJ) is severely out of alignment and that I would benefit greatly from treatment. The first step in this process is to get a sleep study done in order to rule out sleep apnea. We do not think I have sleep apnea, but it something that we need to double check for before we pursue treatment for the TMD (temporomandibular dysfunction). I have an appointment with a sleep specialist in a couple of weeks so that we can get the sleep study done to rule out sleep apnea and then move forward with the TMD treatment. We are not yet sure exactly what this treatment would entail until we get further imaging and tests done.

I also need to set up an appointment with a physical therapist recommended to me by my geneticist. I cannot see a regular PT because they are more likely to do harm than good in EDS patients. This will help me to strengthen my body and protect my joints from injury. Hopefully it will be able to help reduce some minor pain I have in some of my joints by making them stronger.

I think that this is about all that I have to update on right now. It has been quiet for me medically and I have been busy working and enjoying life with my new partner. I will try to update more frequently, but thankfully there is not much to update on right now! Thank you all for your support and prayers throughout this journey!