Rare Disease Day

It’s here! The countdown to rare disease day comes to an end. However, since I started the 100 Positive Days very late, I will keep going on into March, April, and May! In any case, I thought I should stop and take a minute to share some education about the rare illnesses that I have, and hopefully bring some awareness.

Ehlers-Danlos Syndrome

Ehlers-Danlos (EDS) is a genetic connective tissue disorder, which can present itself in a variety of forms or types, including a vascular form which can be life-threatening. However, I have type III, also known as “hypermobile” form. They call us “zebras,” – since we are often medically complicated and hard to figure out – hence the zebra on my blog banner. Hypermobile EDS, also often identified as “Joint Hypermobility Syndrome”, affects 1 in 10,000 people. What it means for me, is I do not have enough collagen and my joints are very loose and stretchy. I’m really good at yoga and gymnastics but should never be allowed to do them because there’s a good chance my joints will dislocate or at least sublux (partially dislocate). I have severe joint pain and my shoulders often sublux, creating further trauma. EDS is the cause of many of my other issues, including two I will mention below, so diagnosis is important to help understand other symptoms. Often a rheumatologist or geneticist can help make the diagnosis, which is typically made from physical manipulations (beighton scale) and symptoms, rather than genetic testing.

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Postural Orthostatic Tachycardia Syndrome (POTS):

Long name, so we call it POTS, it’s an autonomic nervous system dysfunction or orthostatic intolerance/dysautonomia.  Since I was a freshman in high school I’ve had seemingly random episodes of almost-passing-out (pre-syncope). My face goes white, swollen blotchy legs, I get blurred vision, then I can’t see anything, my heart pounds and the blood rushes to my head, and I sit down. Typically it happens after I’ve been standing for a long period of time (especially out in the heat) and occasionally it happens when I get up too fast. I usually sit down, but often get nauseated. Water does not help and from this point forward I just have to sit or lay down for about an hour and then I feel better. What happens, we now know, is when I stand without movement, my blood “pools” in my lower limbs, meaning it gathers because I’m not moving, and it affects my heart rate and blood pressure. My heart panics because of a lack of blood and shoots it back up into my head and everything goes awry until I sit down with my legs up. The treatment is a high sodium (10 g/day) and high fluid diet (2.5 L/day), with regular exercise for the lower body, compression socks, and avoiding standing for prolonged periods of time. Symptoms can also be managed with prescription medication. Typically POTS is treated by a neurologist or cardiologist and diagnosed with autonomic testing/ tilt table test. 1 in 100 teenagers may have pots and symptoms often improve into adulthood. It is common in those with EDS, likely due to our stretchy bodies.

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 Gastroparesis:

Also known as delayed gastric emptying. Since I have stretchy body parts, my stomach also likes to stretch and hold on to my food. I’m like a squirrel storing nuts or a bear saving up for winter. The vagus nerve in my body doesn’t function right and has trouble telling my food (contracting) to move from my stomach to my small intestine and so on. The treatment for gastroparesis is a low fiber, low-fat diet along with some other natural integrative medicine approaches, such as chewing food really well, eating small frequent meals and eating slowly, taking deep breaths, and eating food that is easy to break down. This is why I don’t eat many raw veggies or steak, I tend to cook my vegetables and eat ground beef or chicken. Meds are also prescribed by a gastroenterologist in more severe cases. Diagnosis is typically made by a delayed emptying study, where you eat radioactive material and they scan your abdomen every couple hours and watch it go down. This is also fairly common in EDS (stretchy) patients.

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  Small Intestinal Bacterial Overgrowth:

The prevalence is about 5 – 15% though a good estimate is hard to find: it is being diagnosed more often and we’re finding it isn’t so rare. SIBO often occurs with gastroparesis, since there is a good environment for the bacteria to grow. Basically, there are bad bacteria in your gut that feeds off sugar, so you become addicted to it. I’m definitely a person who has loved sugar her whole life, so going sugar-free has been really difficult for me and continues to present challenges. But since sugar is what feeds the bacteria, a sugar-free (ideally including carb-free) diet is important for the gut to heal.

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So these are the current illnesses I’m facing that are not commonly known by the general population. Hopefully, this brings some awareness to these issues and maybe you even know someone with similar symptoms who can be helped! Thank you for reading! Happy Rare Disease Day!

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5 thoughts on “Rare Disease Day

  1. Pingback: Shoulder Surgery Part 3: Post-Op | Rich with Life

  2. Good morning! I came across your blog (ironically, I was looking up things to wear after shoulder surgery and THEN saw your EDS tags)- my doctors and I have been searching for a doctor/clinic who specializes in EDS and/or connective tissue disorders but can’t find one. I am willing to travel anywhere in the US. I am in Oregon and am gearing up for my 10 th joint repair surgery. My
    OS, rheumatologist, and pain doc all agree it’s EDS but want someone with some experience to see me. Thanks so much!
    Lindsey

    Like

    • Hi Lindsey, I’m sorry it has taken me some time to get back to you. I recommend getting in to see Dr. Bradley Tinkle in Chicago at Advocate. He will take a while (maybe 6 months) to get in to see, but a doc referral will help. He has a Facebook page too with resources and answers questions regularly.
      There are others… Cincy children’s is one in Ohio.
      I would also look up an EDS group on Facebook. There are local and national groups with many members and long lists of doctor recommendations. Zebras need Zebras is one of the national one, but local should have some close to you. Inspire is a great website too where you can find resources and can search for a doc in your area. But Dr Tinkle is fantastic. ❤ Happy, healing days ahead for you!

      Like

  3. Hey Emily!!
    I just wanted to say that I really appreciate your blog and your recipes. I am 20 and also have hyper mobility syndrome and gastroparesis, as well as fibromyalgia. I take a very positive approach to all of this like you do, but it can definitely sometimes get tough. This is especially true when it comes to travel because I am also gluten-free, dairy-free, sugar-free (including fruit), and a bunch more -free haha. You are the only person I have ever come across that has both hyper mobility and grastroparesis. Please keep positing and keeping my day more positive! ❤

    Liked by 1 person

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