Amber's Dysautonomia & EDS Story

Our awareness of an issue began in February of 2013 when Amber was just barely 11 years old.  Amber and I came down, on the same day, with an intestinal virus that was unpleasant, but short lived.  Even with my IBS, I was back among the normal functioning people within 5 days.  That is something of a miracle for me, especially since Amber was still ill.

Amber had been a freakishly healthy, although somewhat physically quirky child, except for the once a year occurrence of strep when she was still in parochial school. Since we had started homeschooling the child rarely even had a cold. So, for me to be completely over a virus and her to have it still lingering was odd.  After initially making too many bathroom visits, Amber now pretty much didn't need to go for days on end.  We consulted with the pediatrician's nurse line and they gave me a few solution options.

December 2012, before we noticed any problems, and about 10 pounds heavier than December 2013.
Initially those options seemed to work, but the problem kept recurring. Eventually we ended up taking Amber into the pediatrician who ordered the first set of blood tests.  You know of course that everything came back normal.  That's how these things go.  So, again I was given some different options to help Amber and we tried to deal with the growing problem.

By mid-March Amber was starting to have stomach / abdominal pain and was referred on to the pediatric GI doctor.  Thankfully. The GI doctor ordered a massive number of blood and other tests to be done on Amber as well as an upper endoscopy, which happened by the first week of April. The endoscopy showed that Amber had duodenitis, an inflamed duodenum.  Amber was immediately checked for Celiac disease, through biopsy and blood work.  It was, thankfully, negative.

Amber was prescribed with more medication that did nothing for her condition.  She just continued to be in more pain, look sicker, and pretty much decline in health.  Everything hurt her.  How she managed to make it through each day, I will never know.  She was quite a little trooper and still persisted through homeschool from the couch even when she was in a terrible brain fog.  The light had left her eyes.

May, 2013.  Amber performed with her chimes choir about two hours after this was taken. How? I will never know
A month later through a second upper endoscopy, Amber was diagnosed with chronic duodenitis but we had no answer as to the cause.  The GI doctor immediately scheduled Amber for a small intestine bacterial overgrowth (SIBO) hydrogen breath test. Amber passed the test and did not even remotely have SIBO. You name it and the test was being done on the child.  Eventually, the GI doctor decided that Crohn's disease might be a real possibility and scheduled every possible Crohn's diagnosing test.

Around the same time a friend of our family's was diagnosed with Fructose Malabsorption.  She mentioned that this might be something we should consider for Amber.  I brought it up with the GI doctor and she was more than happy to run the breath test for FM.  She did think, even if Amber had FM, that there was an underlying cause and it turns out she was right.

So, in late October, 2013 Amber went through a barium swallow x-ray, a barium ct scan, the capsule endoscopy (where she swallowed the camera pill), and another hydrogen breath test.  Everything came back normal(ish) except the breath test. She was promptly diagnosed with Fructose Malabsorption.


The GI doctor continued to pursue possible causes of the FM, feeling that it was a secondary diagnosis; meaning that it was the result of another condition. Let me just say that I LOVE this GI doctor and she was entirely correct.

We continued working with the GI doctor and the dietician to structure a low FODMAP diet for Amber that allowed her intestines to heal as well as provide her with nutrients to thrive and grow.  Amber lost roughly 10 pounds in 11 months and was considered malnutrioned by the time we managed to get things straightened out. She slowly began to heal and we found more foods that she tolerated in small amounts (hurray for yellow bell peppers).  Amber even began to gain some weight and grow again.  All the while the GI doctor was thinking about the underlying cause.

At one GI visit I mentioned how Amber became quite sick in the middle of a church service, but recovered once home and was able to sit and cool down. I was simply baffled by the symptoms and curious what food reaction would cause it to happen. This was the moment that turned on the light for Amber's GI doctor, as she had other patients with a condition called POTS.

Of course we had never heard of POTS (postural orthostatic tachycardia syndrome), which is a type of dysautonomia.  The GI doctor began to build her case for Amber to be seen by the neuroscience POTS specialist in our area.

After months of symptom gathering and waiting, Amber was seen by the main neurologist POTS specialist in our area.  He diagnosed her with a POTS-like form of dysautonomia, almost immediately.  The neurologist suspected several possible causes, all mostly in the autoimmune area, but after testing none have panned out.

January 2014 - gained almost a pound and now has many good days.  Looking healthier and even got her braces off.
Amber has now gone through the tilt table test and other autonomic testing two separate times to confirm dysautonomia: once with her local neurologist and once at the Mayo Clinic. Each time the dysautonomia diagnosis was validated. Amber does not have POTS exactly, but a broader type of dysautonomia that is very similar to POTS.  Meanwhile there is no cure for dysautonomia. There is symptom treatment to make her life more comfortable, but knowing the cause of Amber's dysautonomia will provide the best treatment.

After working with several doctors, Amber finally saw a rheumatologist at Children's Hospital / Washington University here in St. Louis in July of 2015. They diagnosed her with the Hypermobility type of Ehlers Danlos Syndrome (EDS), which is an inherited connective tissue disorder related to   collagen production.  It is often seen with dysautonomia (and could be the cause) and explains many of Amber's quirkier physical traits. We had an 11 month wait to see a geneticist to confirm the type of EDS.

During the wait for genetics, Amber developed mild gastroparesis and some pretty nasty reflux, which the GI doctor assumes is a result of the EDS since neither are uncommon in EDS.  Imagery and testing also found some abnormalities with Amber's gallbladder, but thankfully that does not need to be addressed immediately. We are just watching it for now.

Finally, in June of 2016 Amber saw the geneticist at Washington University who specializes in pediatric Ehlers Danlos Syndrome, and had the diagnosis of Hypermobility Type EDS confirmed. The geneticist even went one step further and has made recommendations for better therapy and care to help Amber live a healthier life.  We will continue to follow up with the geneticist, but for now the adjustments to the physical therapy and other treatments that began after the initial diagnosis are a good start.

7th Grade pictures (October 2014)
What exactly does this mean for Amber now?  The nature of dysautonomia is that the autonomic nervous system (ANS), the part of the body that controls automatic functions, is malfunctioning. The extreme exhaustion she feels is most often caused by her heart rate and blood pressure not being properly controlled by the ANS. When standing Amber's heart rate can soar to 180.  It's like she is running a marathon and all she did was stand for a hymn at church. She is heat and exercise intolerant and her body does not regulate its own temperature properly.

Her intestines and digestion do not function as they should either, which explains why the specially crafted diet is not completely resolving the motility problems and why she developed gastroparesis. Amber still has a milder form of fructose malabsorption, but now tolerates moderate amounts of wheat and other fructans. She continues to maintain a low fructose diet, but tolerates some categories of the FODMAP foods again.

In addition, the EDS means she can only choose the types of exercises that will avoid damage to her joints. The EDS also comes with its own set of additional issues that we are only now learning about. Amber started physical therapy in August of 2015 to strengthen her muscles around the joints where the connective tissue no longer supports the joints. Amber was subluxating (dislocating) joints regularly through everyday actions. Even with therapy she still can subluxate her ribs just by moving her arms. Each week in therapy we learn more about EDS and how to help Amber with her constant joint pain.

Thankfully the inclusion of a beta blocker has lowered Amber's heart rate and allowed her to function better than she has since this all started. It's a slow process to adapt to this new life style, but we are getting there.

6 comments:

  1. Reading your daughter's story hits so close to home. We are going through the battery of tests because my son has almost every symptom of dysautonomia. The drop in blood pressure, the increase in heart rate, and fainting are the newest symptoms that led us on our journey of trying to figure out what is going on and how to treat him. He has had chronic constipation, reflux, intestines not properly functioning, shortness of breath, fatigues, exercise intolerance, heat and cold intolerance almost his entire life but each was treated separately. I couldn't get the doctors to listen to me when I said I knew they were all connected. We have been dealing with these symptoms and treatments for 13 years. Only about 2 weeks after he turned 13 he passed out with a seizure like episode that sent us to the hospital. A friend of mine that is a nurse consultant told me about dysautonomia and told me to push the doctors to check for it. Thankfully the cardiologist is going to do the testing that is needed to help us get the treatment plan we need to help him the life he deserves. I pray that we both continue to get answers for our children on our journeys.

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    1. I hope you are able to get answers that help your son. Dysautonomia is not as well known as it should be with medical professionals. I pray they can find treatment options for your son that help him function better. We were so lucky to have a doctor who put it all together fairly quickly. Diagnosis of this can be so difficult. Even with the testing we've done, Amber still needs more to find the root cause. She's scheduled at the Mayo Clinic this summer for additional testing. It seems like a never ending cycle.

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  2. Did she get that extra testing and do you now know the underlying cause? We are just starting down the track of hypermobility syndrome that seems to be pointing to EDS.

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    1. The underlying cause of the dysautonomia is now believed the be EDS. We still are waiting on the genetics appointment to determine if she has the hypermobility type or the classical type definitely. Right now they are going with hypermobility EDS, but rheumatology can only diagnose that type.

      She's got some cranial instability and odd spacing in her neck vertebrae though, so she may be eventually tested for Chiari malformation.

      Last we saw him, the autonomic neurologist was still thinking an autoimmune was at play too. But we see him later this week for a checkup, so he might have changed his mind. It's possible to have both the autoimmune and EDS, which might explain why Amber's dad (from whom she inherited the EDS) did not get the dysautonomia portion. Or it could be the cranial instability portion of Amber's EDS, which her dad does not have... things going on up there resulted in dysautonomia.

      It's all a little unsure still, but we have some answers and supportive treatment has started.

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  3. I know it's been a couple of years, but has she been tested for Mast Cell Activation Disorder? There is new research suggesting it is the cause of dysautonomia in EDSers. There's a book called Never Bet Against OCCAM that has a lot of great info.

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    1. She does not have MCAS. We've been down that path already. Thanks for the idea.

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