Bruises and a Rare Genetic Condition

As a parent, you watch your child take their first steps, meet their developmental milestones, and begin to be independent. There are missteps and falls, bumps and bruises, and through them, they learn to brush themselves off and continue forward. But when your child has bruises and skin tears on a daily basis, you begin to suspect something is wrong.

My son was born a week early. He was born with a normal height and weight and looked like a cute little baby boy. He began dropping weight in the hospital and continued when I went home. This was very concerning to me as I had successfully breastfed my other two children and I knew my technique was working. I worked with a lactation consultant to pump my milk and attach a flexible thin straw to my nipple (with tape) so my son would learn to suck and we could measure how much milk he drank. It was an exhausting process and I often felt like a dairy cow being pumped or sucked 24/7. Despite our valiant efforts and our weekly weigh-ins, he stayed in the 3rd%tile for weight.

At 18 months old, he had met all his developmental milestones but his speech was intelligible to anyone besides myself. And although we had added solids to his diet, he seemed to give up or tire out after three bites and his weight remained low. We added First Steps Therapy, offered from the state of Indiana for infants through age 3. He received speech and OT (occupational therapy) regularly.

The OT suggested packing each bite full of calories and fat. We added Pediasure, a nutritional drink for children, and added Benecalorie to it which added more calories and protein to the drink. We soon got his weight up to the 25th%tile and felt we had a huge success.

We noticed our son bruised and got hurt easily, daily in fact. We had him buckled in to his booster seat at our wooden kitchen table. I watched as he paused between bites and sneezed. His head rocketed back and then came forward just as fast, smashing his forehead into the rounded table edge. He wailed as a goose egg appeared instantly on his head. We applied ice and tried to soothe him. When he wouldn’t tolerate the ice anymore, we removed it and watched the bruise continue to grow. His skin ripped from the pressure of the bruise, causing a fish-mouth-like bruise. We rushed him to the hospital and told them what had happened. They looked at us with disbelief. I didn’t blame them. How could his skin rip from a bruise? Thankfully they glued his forehead and sent us on our way.

Fast forward to Preschool…

His teachers and therapists met with me and informed me that he had excelled at his speech therapies and no longer qualified for services. I knew I should be happy but part of me knew he needed more therapy. Our son struggled with his pencil grip as his fingers seemed excessively bendy. They agreed he would benefit from more therapy but could not offer it under the speech diagnosis and recommended we seek another diagnosis.

We went to a geneticist…

I went to our genetics appointment at the reputable Children’s Hospital in our city with a list of all the puzzle pieces that seemed to want to point to a diagnosis. I’d told the doctor that I’d searched the internet high and low, typing in different combinations of symptoms he presented with, including: bruising, nose bleeds, gets hurt easily, flat feet, sleeps with eyes open, apraxia of speech. He took that info and decided to test for Fragile X Syndrome. The results came back negative and the doctor said “I wish I was smart enough to know how these pieces go together but I’m just not seeing it.”

We returned to our pediatrician and she referred us to her favorite geneticist at the teaching hospital downtown. The doctor walked in and listened to our tale. He performed the Beighton test on my son, a test of various movements to check hypermobility of joints, and when he was done he said, “he has Ehlers-Danlos Syndrome type 3”.

I quickly googled and discovered that Ehlers-Danlos Syndrome (EDS) type 3 is a collagen disorder. Patients often have low muscle tone, especially in their large joints like hips, knees, and shoulders. Patients live a normal life span but are often ridden with severe pain and dislocations. Some also have POTS, a condition where blood pressure drops suddenly, and/or dysautonomia, an irregularity of the nervous system that causes your body to overreact or underreact to stimuli. As I continued to read, it mentioned EDS type 4 or the vascular type, and stated that it was the deadly type leading to a shortened life span. It included easy bruising, fish-mouth like wounds, veiny chests, and small chins. It included pictures of patients with the condition and they all had a similar appearance to them. I compared them to my son and worried he might have type 4.

I asked the doctor if we could rule type 4 out as my mind would always worry whenever my son was injured. He said he doubted he had it as it was a rare condition but said we could do a blood test to rule it out.

Six weeks later, the test came back positive and our world changed. The news that our child had a life-threatening genetic condition with no cure or standard of treatment was terrifying. We cried and mourned the loss of a normal life for him. My husband dove into reading and research. He needed to understand the condition in order to cope with it. But I was a  mess of tears and tissues on the couch. He finally came to me and said “I think you’ve lost your light.” And he was right.

 

But life wasn’t over.

We all were still alive. I was still a mom, a wife, a daughter, a sister…and rather than let this destroy me, I needed to rise up and do whatever I could to help my son. I educated myself on the condition and made a list of what I needed to do so that if anything horrible were to happen, there would be no regrets. Here was my list:

-Get a medical bracelet

-Educate all his caregivers about vEDS

-Raise Awareness

-Raise money for research

-Take him to the best doctors in the nation regarding vEDS

-Make memories with my entire family and value every moment with them

And I can proudly say that I have accomplished all of these tasks. I’ve written two books with characters challenged with vEDS, including Cross, which was awarded a silver in the International Literacy Classics Awards.

Sadly, many parents of children with vEDS get accused of abusing their children. I honestly can understand why as these children have new bruises on any and every part of their bodies and CPS wants to protect children from abusers. It’s important for hospital staff, police, school, and CPS to consider other reasons for the bruising. This is a rare condition but it exists and too often families have not been properly diagnosed.

I volunteer at my son’s school by helping out in the classroom or in the gardens and I’ve developed a close relationship with the staff that work with him. I do this so they can feel comfortable asking me any questions they have and I do this so they can see what kind of parent I am. My son runs up to me with big smiles and kisses and hugs me when he seems me. He’s glued to my side and I hug and kiss him back. Parents with children who have vEDS should consider being active within their child’s school and building relationships with their education team.

He comes home with new bruises and injuries everyday, but he’s alive and happy. We are always trying to balance life experiences with safety and care for his body. It’s not easy, but he’s becoming more understanding of his limitations and his disorder as he gets older. For now, we’ll take each day as it comes, being grateful for our health.

For more information about vEDS please visit: https://www.annabelleschallenge.org/vascular-eds or http://edstoday.org/

Our Stories of Strength review & interview!

Having a child that was diagnosed with a rare disorder, Vascular Ehlers-Danlos Syndrome, has been a life changing experience.  One of the challenging aspects of being diagnosed with it is finding a support system, people with like minds who face similar challenges.  We find support in online groups and within our personal family but outside of that, it can feel pretty isolating.  Recently a book entitled Our Stories of Strength was released – it too has helped us feel not alone in our journey.

Our Stories of Strength is a fascinating book that I hope all doctors, med students, teachers, therapists, and patients with silent disorders pick up.  It is a collection of personal stories from patients that are challenged with various types of Ehlers-Danlos Syndrome.  The stories are not depressing but rather show how each patient overcame the difficulties they faced – how they rose above a diagnosis and it’s limitations.  The stories are told by children and adults – the editing is spot on, and the photos and drawings make the stories that much more endearing.  The book is an enjoyable collection of the strength of human beings in the face of physical and emotional challenges.  You do not have to have EDS to benefit from this book, it will encourage strength in all who read it.

Pick up Our Stories of Strength, it’s an inspirational eye opener! http://amzn.com/B00X8TG60I

I had the chance to interview the creators of this anthology.

Tell me a little about your book:

Our Stories of Strength – Living with Ehlers-Danlos Syndrome was an idea to share good news stories of those who were living with Ehlers-Danlos Syndrome and who found ways to persevere. Because I sit in the middle ground of volunteer work with EDNF, working in the medical field & also my own personal experience, I felt like so much of what was known to those who were newly diagnosed, was scary, sad and depressing. However, I knew that there were many other stories like mine, stories from so many others who were also living well with EDS and felt like they needed to be shared. I couldn’t help but think that if these stories were shared, that those who were feeling hopeless, depressed and overwhelmed, would feel a sense of hope, strength and determination to persevere.

How long was the process of creating this book? (from first concept to published book)

I met Mysti via twitter in May 2104 when I was recruiting for the EDS Ride for a Cause. In July, we had been talking back and forth via twitter and then over the phone. It was one day while sitting in my car in front of my house that I said, “We should write a book!” I suggested that we marry her experience as a writer and my experience working within the EDS and medical communities, as well as our joint passions for health and wellness, and create a book that shared these good news stories that we both knew existed – including our own.

In October of 2014, we began working more consistently on our idea, as well as putting together an overall business plan of how to approach the EDS Community. In November, we started recruiting for stories and I asked Dr. Francomano if she would write the forward. In January – Feb. 2015, we launched our website and became more active via social media. We also decided to make Our Stories of Strength a series of anthologies and discussed other titles in this series.

In April, we applied for our LLC, while also finalizing all story submissions. We also contacted other people who are community leaders for quotes to include on the back of the book and worked closely with Kristi on refining the cover design.

We were blessed to have several people devote their time and experience to this project, including Kristi who also lives with VEDS and is an incredible graphic designer and a professional editor, who helped edit the entire book before publishing.

Our deadline was always May, in order to publish in conjunction with EDS Awareness month. The digital version of Our Stories of Strength – Living with Ehlers-Danlos Syndrome was published on May 8th – hitting our target deadline. The print version was published one month later in the beginning of June 2015.

In total, we worked consistently for about a year from idea to publishing. We are have been and continue to actively recruit for all 40 titles in the Our Stories of Strength anthology series.

What has been the biggest struggle in making this book come to life?


Our biggest struggle by far was learning to pace ourselves and learning how to balance pushing ourselves when needed, while also accepting that as long as we are taking baby steps, we were still moving forward. To look back and remember all that we personally went through (taking care of our kids, our own health struggles, other jobs & more), it’s amazing to that we still made our deadline.

What have you enjoyed the most about creating this book?

Personally, I’ve enjoyed seeing an idea coming to life and validate the very reasons I felt that sharing these stories was so important to our community. I’ve also enjoyed meeting and talking with everyone who submitted and all others who are working to make a difference in our community. We really are stronger together.

Do you have plans to create more books? If so, do you have your next one in mind?

See question number 2. As of right now, it seems that our next anthologies will be our Gastroparesis, Dysautonomia/POTS and Fibromyalgia anthologies. We also have a number of stories submitted for our second living with Ehlers-Danlos Syndrome anthology; however, we would also like to do an anthology focused on Vascular Ehlers-Danlos Syndrome. With each anthology, we partner with a non-profit within that community and we have activity been in discussions with people within the various chronic illness communities that we are recruiting for (i.e. thyroid, chronic pelvic pain, chronic pain with kids, mast cell activation disorders, etc.).

What was your biggest influence/support for your book?

For me, my biggest support and influence has been all those who I’ve worked with within the EDS community, my own children and the physicians who devote their lives to caring for us. Dr. Francomano has been a huge sense of support for me for a number of years, as has Dr. Streeten from University of Maryland, Dr. Pocinki & recently, Dr. Afrin. Shane and Lauren at EDNF have also been incredibly supportive over the years. And of course, I couldn’t do any of this without the support of my husband. He’s never questioned anything that I’ve done, why I want to do it and the importance of it.

I’ve also been blessed to be included in other EDS projects – both healthcare providers and other members of the broader EDS community. 

Have you heard positive feedback from readers about your book affecting their lives in some way? I would imagine that you will hear some of that as your stories are inspirational.

Yes and Yes! We’ve received incredible feedback from those within the EDS community, those who submitted stories, those outside of the community and from various healthcare professionals. It’s been quite humbling.

If you won the lottery tomorrow and suddenly were $5,000,000 richer, what would you do with your money?

Not look at my bank account for a year and have someone else manage it. 😉 I would take a huge deep breath and continue to do all that I do now, only from living somewhere near the beach. For me, money isn’t about quitting work, it’s about being able to do what you love and love what you do every day. Working provides purpose, direction and a sense of responsibility — all things I think are crucial for children to learn as they grow up. Life isn’t given to you – it’s earned. No one owes us anything and one thing I’ve learned that is that, you can never take anything for granted. Anything an happen. Anything, to anyone and at any time.

Thank you Kendra and Mysti for creating this much needed book and for taking the time to be interviewed! Here are some helpful links and info to follow the work Kendra is continuing:

Kendra Neilsen Myles
Principal & Owner
Mediterina Medical Solutions
EDS Patient Solutions
240-687-7791
Co-Founder & Editor
“Our Stories of Strength”
Our SOS Media, LLC

www.ourstoriesofstrength.com

Our Stories of Strength – Living with Ehlers-Danlos Syndrome is NOW AVAILABLE!
http://amzn.to/1dZuUE3
Digital:http://amzn.to/1AUiGRZ

Our Stories of Strength website: www.ourstoriesofstrength.com
Calls for submissions: http://ourstoriesofstrength.com/2015/05/01/call-for-submissions/

Additional titles just released! More to come soon! http://ourstoriesofstrength.com/2015/06/11/additional-titles-seeking-submissions/

Writer for Personal Blog: Strength/Flexibility/Health/EDS

www.sfheds.com

Bio link: http://strengthflexibilityhealtheds.com/about-kendra/

Connect:
Facebook: https://www.facebook.com/Kendra.Neilsen.Myles

And:
https://www.facebook.com/strengthflexibilityhealtheds?ref=hl

https://www.facebook.com/EdsSolutionsLlc

https://www.facebook.com/OurStoriesOfStrength

– Our Stories of Strength – Living with Ehlers-Danlos Syndrome book fan page: https://www.facebook.com/OurStoriesOfStrengthLivingWithEDS

Instagram: @SFHEDS & @EDSPatientSolutions

Pinterest: @EDSPatientSol

Tumblr: Actvfaith3/StrengthFlexiblityHealthEDS

Twitter: @SFHEDS, @KNMyles, @EDSPatientsol & @StrengthStories

Or, visit sfheds.com for the latest on living a healthy and active life with EDS.

Other projects:

– Wellapalooza 2015 is here! http://strengthflexibilityhealtheds.com/2015/07/28/wellapalooza-coming-2015-and-newsletter-sign-up/

– Moving Naturally with Hypermobility seminars: http://movingnaturallywithhypermobility.com/

– 2nd Annual “EDS Ride for A Cause” on November 15th, 2015 at Zengo Cycle in Bethesda, MD: https://www.facebook.com/events/814063915305731/ **All proceeds benefits EDNF**