Fighting for Ordinary, Pt. 1

Recently my 16-year-old daughter, Sophie, was diagnosed with a genetic disorder called Ehlers-Danlos Syndrome (EDS) and an accompanying autonomic disorder called Postural Orthostatic Tachycardia Syndrome (POTS). Both are both quite a mouthful, both are relatively rare, and many of my friends and family have never heard of them. I went from being happily oblivious to their existence to thinking about them every hour of every day.   

 

A few weeks ago, Ariel, a friend of Sophie’s, contacted me because she decided to use her Cause Fair* podium to raise awareness of these Invisible Illnesses. Ariel made me realize that I need to take up that cause as well. I wasn’t sure where to start until I thought about how many of my friends don’t know what is happening inside my family. As I see friends, I update them and explain the basics, but each time I think: I’m making this explanation shorter and shorter, a bullet point checklist of symptoms and it doesn’t address what Sophie is actually living and feeling. I am hopeful that I use this space to inform my friends and give Sophie the understanding she needs. 

So, to start at the beginning, let me describe EDS. 

What is EDS?

Ehlers-Danlos syndrome (EDS) is a heritable disorder of connective tissue. There are six different types of EDS that were classified in 1997.  EDS is caused by a defect in a protein called collagen.  Collagen is the main building block of the body providing strength and support.  Since the collagen is defective, it leads to extremely fragile and “stretchy” tissues throughout the body; the effect on the body is extensive and effects almost all of the main systems.

No one experiences EDS the same – there is a wide range of symptoms and, thankfully, many people will have full and active lives. But, EDS can lead to permanent physical disability and one type of EDS can mean an early end to life. Currently, there is a general lack of knowledge about EDS in the medical profession and in some patients it is often misdiagnosed or overlooked for years. I am grateful that we were referred to a pediatric cardiologist who knew what to look for right away. I’m also grateful that Sophie’s primary care doctor and psychiatrist are going out of their way to learn more about EDS.

What will this mean for Sophie? Well, we aren’t sure because it develops over time. Some people never experience more than minor symptoms (I’m hoping for that one!). Many people eventually start dislocating joints just by doing normal things (walking, rolling over in bed, lifting objects). Some people also experience tremendous pain, exhaustion, and gastrointestinal problems. We will learn more in a few weeks when we see a geneticist who works with EDS patients. In the meantime, we struggle daily to stay positive and optimistic. It often feels overwhelming, mostly at night when we’re all tired, but we are learning as family to live a new normal.

What is POTS?

Postural tachycardia syndrome is an abnormality in your autonomic (involuntary) nervous system. Sophie was diagnosed with PoTS because she had developed a number of problems when she was standing or sitting up. The cardiologist conducted a number of tests including EKG, ultrasound of her aorta, measuring her heart rate when lying down, standing, etc.  The key diagnosis was when her heart rate increased i 30 beats per minute within 10 minutes of standing. She reached the additional 30 beats by the end of minute one. 

Many of us occasionally feel a little dizzy or light-headed when we stand up…but in people with POTS (Potsies), it is constant and acute. In other words, Sophie’s heart rate is 100 to 130 beats per minute when she is sitting up or standing. Most people fall into the range of 60 to 90.

What Sophie experiences with POTS all day long, every day:

• Dizziness or pre-syncope (almost fainting).
• Syncope (fainting).
• Palpitation (awareness of heartbeat).
• Headaches – orthostatic headaches (due to upright posture)/migraine.
• Brain fog (difficulty in thinking).
• Tiredness.
• Sense of anxiety.
• Shakiness.
• Visual problems (graying, tunnel or glare).
• Gut problems (nausea, diarrhea, pain).
• Sweating.
• Chest pain and difficulty breathing.
• Poor sleep.

How Has Our Life Changed?

For now, Sophie is unable to attend school. This has been the biggest disappointment for her. She adores her teachers, her friends, and her school and a HUGE chunk of what made her happy is temporarily (we hope) gone.  We are determined to have her back in school for 11th grade, but she will need to work hard at physical therapy to get there. In the meantime, online courses will be the answer. 

We do not leave her alone for very long because she may faint or fall and she feels anxious when the symptoms all come on at once. Luckily, Guy (Sophie’s dad) works from home and he is here with her while I go to work outside the house. We need both jobs so there is a some stress in juggling doctor appointments, physical therapy, and times when we both need to be at the office. But the priority is always Sophie.

Sophie is only able to go out for about 20 minutes without having to lie down, almost fainting or feeling sick. So, visits with her friends are extremely limited. She also gets exhausted and overwhelmed with long visits at the house, so she doesn’t see friends as often as she wants. Everyday activities seem monumental. Taking a shower for her is like running a 5 K for others. 

Sophie needs to take Salt Stick pills, wear compression socks, drink lots and lots and lots of water, and has the head of her bed raised about 8 inches. She exercises on a recumbent stationary bicycle and does exercises that help build her core muscles. She is also going to need to do targeted exercises that will strengthen the muscles around her joints. She is on the only nationally researched program of physical therapy for POTS. None of those are any fun and they only help a little.

Sophie also feels isolated and stuck – stuck in the house, stuck in her chair, stuck feeling awful. Emails, texts, and chats with friends help A LOT! She is socializing almost completely electronically now. 

What Do I Want You to Know?

Sophie, being Sophie, never complains and always smiles. No matter how crappy she feels, she always looks warmly at visitors and guests. She looks absolutely fine – you would never know what she is struggling with inside. She has an invisible illness. And what I’ve learned about those illnesses you can’t see is that it also means we often don’t see, or acknowledge, someone’s suffering. So, I guess I’m asking that you believe someone when they tell you they can’t do something that is easy for you, believe them when they say they want to come and see you but they just can’t, believe them when they say “I can’t do that right now” and believe them when they tell you they are sick.

For her friends: Come and visit when you can, but please understand that she can only take 1/2 hour at a time. She loves you, she knows you love her, and she asks for your patience and understanding if she needs to stop and be alone.

And, finally, read this article written by a teen who is chronically ill. She expresses what this life is like so beautifully and clearly and will help you understand what Sophie is living every day.

* Cause Fair is a wonderful program at Sophie’s high school where students choose an issue about which they are passionate, research it thoroughly, write it up, and then find an interesting and engaging way to present it to the school, parents, and anyone in the community. They tell us how we can help and ask that we also get involved. They put their heart into it and I’m proud of all them for trying to make the world a better place.