EDS Documentary

Here is a short EDS documentary centered on a young woman (around my age) who has EDS. Her name is also Sarah (she has an H though) and she has a similar story to mine. She is in Canada, so some of the aspects of the healthcare system are different for her than me. The documentary is only about 12 minutes long, but it is a wonderful video that portrays many of the realities and struggles of living with EDS. You can watch the documentary, entitled "Still Talking" over at https://vimeo.com/125161284. Sarah also has a Facebook page that chronicles her journey with EDS and other conditions, as well as raises awareness for these conditions, called "Sarah's Shout: Fighting and Raising Awareness for EDS and More". If you would like to follow her for more updates on her journey her page can be found here: https://www.facebook.com/sarahsshout/?fref=ts

Thanks as always for helping to raise awareness and understanding for EDS and related conditions!

Hurry up and.... wait

I feel like that is the story of my life right now! We are waiting (impatiently on my end) for so many things right now! As I mentioned in my TMJ post we are waiting to hear if insurance will cover my TMJ treatment or not. In theory they should, but I have feeling that it will take a fight to get it covered as in network. We should hear back about that soon hopefully!

We are also waiting to hear back for out insurance company on whether or not they will cover the Smart Pill motility monitoring test that my GI doctor at the Cleveland Clinic wants done. This is the test that will determine whether or not I am eligible for the gastric stimulator. The insurance lady at the doctors office told us that Blue Cross Blue Shield will not cover this test, but we cannot appeal their decision until we get the denial letter in the mail. We should hear about this next week, but I am not optimistic. We will try to fight it, but from the sounds of it the insurance company has deemed this test "experimental", so they will not cover it. The frustrating part of this is that they will pay $30,000 for surgery to put in the gastric stimulator and then will pay nearly that amount again to take it out if it does not work, but they refuse to pay less than $2,000 to do a test to confirm that there is a good chance (obviously there is never a guarantee) this MAJOR abdominal surgery will help me. We are not sure what will happen if the insurance company refuses to pay for this test, so please keep us in your prayers that we, along with my doctors, can make the best decisions possible.

On the topic of my GI status right now, the new medication (Remeron) that Dr. Cline at the the Cleveland Clinic prescribed helps a little bit, but is not nearly as effective as I would like. It is the best option right now, but I am still praying that we will be able to pursue the gastric stimulator sooner rather than later because I am not eating very much right now and am having nausea and abdominal pain.

We made the decision with my autonomic neurologist to go back on a medication called fludrocortisone which helps raise my blood pressure. I had come off of it last fall because it is a medication that depletes my potassium and is considered a hormone altering medication (corticosteroid), so if possible we wanted to see if I could go off of it. I did ok without it, but I was having black out episodes more and more frequently without it. This is when my vision goes black and if I do not sit down I will faint. I have gotten really good about knowing when I need to sit and haven't fainted in a few years, but blackouts are not a fun feeling! We decided to go back on the medication because it is not worth risking fainting and the fludrocortisone was clearly helping more than we thought! It will take another week or two to see if this helps bring my blood pressure up, but it should since it has worked in the past.

Last week I saw a primary care doctor that my geneticist recommended to me. My geneticist, Dr. Tinkle, used to be located in Cincinnati for many years, so he has numerous contacts here. This primary care doctor is not taking new patients, but since Dr. Tinkle recommended him he was willing to take me on! I had a "get to know you" appointment last week and it went so well! He is extremely knowledgeable on EDS and the related conditions I have, which is so nice! I didn't have to explain anything to him! That just simply never happens! It is so nice to have a doctor that is able to manage all of my health conditions and symptoms who is only ten minutes from my house! I will go back to see him in two months since we only had a 1/2 hour initial appointment.

I sent an MRI I had done of my cervical spine to my neurosurgeon last month just as a follow up. It has been two years since my cranialcervical fusion, so we just want to do an MRI to ensure that all of my hardware (screws and rods) is still in good shape and that everything is looking good. Unfortunately my neurosurgeon had to have surgery on his ankle, so he was not able to get back to me until last week. He wants me to have a Skype appointment with him (he is located in New York and I am in Cincinnati so it is not easy to have an in-person appointment). I have not yet heard back form his assistant to schedule this appointment. Please pray that he did not find anything major and that we will not have to go back to New York (for the third time) for another neurosurgery! I hope that we hear back from his office soon!!!!

On a more positive note I will see a new physical therapist next week. She is another profession who was recommended to me by Dr. Tinkle, my geneticist. She is very knowledgeable about EDS and I am excited to get back into PT. Many EDSers benefit from PT because by strengthening our muscles it can help to support our joints. It is VERY important, however, to find a PT who is knowledgeable about EDS because a PT who does not understand EDS can do more harm than good. This PT is located very close to my house, which is nice since when we were in Chicagoland I had to drive about 45 minutes to get to the PT office! I will start off seeing her twice a week and then we can decide from there what frequency will work best.

As you can see we are waiting on a number of different things right now and I am trying to be patient, but I am not a very patient person by nature ;) I will update as we start to hear back from the people we are waiting on, but don't expect news anytime soon. Insurance companies work at one speed: slow. I think that is all I have to update on right now. As allows thank you for all of your thoughts and prayers they mean so much to me!

TMJ Specialist

A couple of weeks ago I was able to get in to see a TMJ (temporomandibular joint) expert who also specializes in EDS. He is only about an hour away from my home and was well worth the trip! It is so nice to see doctors who are not only knowledgeable about their speciality, but also know, work with, and research EDS. EDS causes complications in nearly every part of the body since it is a generalized connective tissue disorder (affects ALL of the connective tissue in my entire body). The issues us EDSers have tend to be unique to us and many doctors have no idea what to do with us. This was not the case with Dr. Mitakides! He says I am a difficult, puzzling case (what's new there!), but thankfully because he is so familiar with EDS it will be no problem for him! In contrast the last "expert" I saw for TMJ had no clue what complications EDS causes and wanted to treat me just as she would any other patient.

At our first appointment with Dr. Mitakides he did a physical examination of my neck, jaw, head, and face to determine what affects my wacky jaw position was having on the other structures of my face, neck, and head. He determined that my jaw is in a much worse position on the left than the right, which we knew because during my last surgery in June of 2014 (can you believe I have gone over 1.5 years without surgery?!?!) my jaw was dislocated. He said this is not an uncommon complication for EDSers, particularly those of us who have neck fusions because they cannot hyperextend our necks so they pry our jaws open too far. The next time I have surgery he recommended to have the anesthesiologist use a pediatric tube for intubation because the chance of jaw dislocation are lower with a smaller tube.

After he did the physical examination I had x-rays taken of my jaw to see what my jaw looked like both open and closed. He expected to see abnormalities on the left, but the x-rays showed that the right side of my jaw did not line up correctly either. Your jaw is supposed to sit on a pad of cartilage when it is closed, but my jaw slides past that pad of cartilage on both sides, so it sits bone on bone. In addition to this, the jaw is supposed to rotate and then when it reaches its full degree of rotation it pivots forward. My jaw rotates normally, but then does not pivot forward the way it is supposed to. Because of this my jaw does not open as far as it should. I should be able to open it wider than most people because of the hyper mobility that EDS causes in all of my joints, but my jaw is on the very low end of "normal" for someone who is not hyper mobile. This is why it is difficult for me to eat an apple whole or open my mouth widely at the dentist.

After discussing it my husband and I decided that we would like to pursue treatment with Dr. Mitakides. The treatment that he uses is a splint that will help reposition the jaw. It is a piece of hard plastic that is molded to my top teeth. I have to wear this splint all of the time, except for when I am eating. This splint helps the jaw to go back into the correct position. I will go back between 3 and 6 times for him to adjust the splint as my jaw keeps shifting so that he can assure that my jaw ends up in the correct position. There is also the possibility that I might need to pursue orthodontics to get my bite aligned, so that my jaw will be able to get to the position we need. We will not know this for several months, however. After he determines that my jaw is in a good place and my symptoms have subsided I will go back to see him about every 6 months to ensure that everything looks good. I will also only have to wear my splint at night once my jaw is where he wants it to be.

The goal for me specifically is to get my jaw to shift to the right because it is deviated to the left and slide forward so that it sits on the pads of cartilage that it is meant to rest onto of. I can already tell that my bite has changed drastically and it has only been just over a week since I got my splint! My jaw is still in some pain, but my symptoms have improved dramatically! I will go back in two weeks to get the splint adjusted and he mentioned that he may do a botox injection in my chin because the muscles there are constantly spasming. With these muscles constantly tight they are part of the reason my jaw is being pulled out of proper alignment. I am so grateful that we found someone (finally!) who can help me! Jaw pain and teeth grinding was the first problem that I was diagnosed with when I was a young teenager, so proper treatment has been a long time coming!

We are still waiting to hear if my health insurance company will pay for the splint and office visits or not, so please keep your fingers crossed that they will!

Cleveland Clinic GI Visit

As I mentioned before the past few months have been very busy for me and my family! We have finally completed our move to Ohio and I began graduate school this week for speech-language pathology! My service dog Reilly and I are still adjusting to not working full time and we desperately miss all of our coworkers and students back in Illinois, but I am excited for the new prospects that graduate school brings!

An exciting update medically for me is that I was able to get an appointment on 12/30 at the Cleveland Clinic in their gastroparesis clinic. I saw one of their specialists who is considered one of the top doctors in the country for gastroparesis. He will help us figure out what the best next step is to manage my gastroparesis and allow me to get more adequate nutrition. I mentioned in my last GI update that I had a couple of medications to try, but unfortunately the one we decided to try, erythromycin, did not work. I tried it for two weeks and it did absolutely nothing :( My husband and I both agreed that we are not comfortable trying a medication that can cause permanent neurological side effects (Reglan), so unfortunately those are the three "typical" medications used for gastroparesis and we must now work outside the box.

Dr. Clein from the Cleveland Clinic was absolutely phenomenal! It was completely worth the four hour drive each way to see him! He is incredibly kind and knowledgeable about gastroparesis. He agreed that he does not like to use Reglan because of the side effects and that we needed to find something else to try. He wants to further rule out various issues that could be causing my gastroparisis. They drew 10 vials of blood during that appointment (once again I am incredibly thankful for my port because it means I can have blood draws done without having to get an IV and since it is placed into a major artery blood is always flowing well, so they can take as much blood as they need easily!). All of that blood work was done in order to rule out autoimmune diseases. I have been tested for autoimmune diseases many times previously, but it is always good to be rechecked! Most of those results have come back and they seem to indicate that I do not have an autoimmune disease causing my gastroparesis.

Dr. Clein wants me to get a Smart Pill test done. This is a non-invasive test during which a small mechanical device in the shape of a pill is swallowed and passes through the digestive tract. It collects information on the time it takes to go through your GI tract, the PH of your GI tract, and the pressures in GI tract. All of this information is transmitted to a small monitor worn on your hip or around your neck. This test will confirm that the paresis (slow movement) is isolated to my stomach and not generalized throughout my intestines. As of now I am scheduled to have this test done on April 11, but I am hoping to get a sooner date that is closer to my home.

If this test comes back stating that the issue is isolated to my stomach then we will pursue a gastric stimulator. This device stimulates the stomach to contract and thus empty itself at a faster pace. This device works well for many patients, but not all and there is not always a known reason why. We are hoping that I will be a good candidate and have good success with the stimulator, but we will have to wait and see! In the mean time we are trying a couple of different medications to try to help my GI symptoms, but so far we have not had much luck.

I am still working on getting everything set up down here in Ohio, so hopefully I will be able to restart physical therapy soon and get in with a primary care physician to establish care. I do have an appointment on February 1 with a TMJ (temporomandibular joint dysfunction) expert who also specializes in EDS. I hope that he will have the knowledge and ability to help my jaw pain!

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!