Real Life Stories #4-Awaiting Diagnosis Marfan Syndrome

Awaiting Diagnosis

Hi! My name is Rachel.

I am 14 and a freshman in high school.

I enjoy designing clothes, reading books, hanging out with friends and watching movies. I like creating stories and drawing.

I have been diagnosed with severe scoliosis, flat feet, severe vision issues, Ehlers Danlos Syndrome Type 3, Postural Orthostatic Tachycardia Syndrome and Mast Cell Activation Syndrome.

I am currently awaiting gene testing results for Marfan Syndrome.

I live with my Mom, Step-Dad, Brother, Sister, 4 cats and 1 dog.

My mom and sister both have EDS Type 3 too.

I wrote a poem about my life for the blog here but Mom (it’s her blog) wanted me to share a little more of my life in detail.

As a toddler I scooted instead of crawled because it hurt my wrists and knees.

In kindergarten I fell everyday because my joints were uncooperative and my legs bent in.

In grade school I was constantly sick with bronchitis and “strains & sprains”.

After the umpteenth dislocated elbow I found a doctor who suggested I had EDS or Marfans and possibly JRA.

The geneticist sent me for an echocardiogram and it showed no mutations in my heart so the thought of Marfan’s was set aside (for now).

In middle school I began dislocating at the drop of a hat. Once my shoulder dislocated while painting my fingernails. (Sucks, right?)

I became weak, sore and was in constant pain.

In 6th grade I was put in a wheelchair due to awful hip and back pain. During that time I fractured my ankle (again) and dislocated another shoulder all while confined to that chair.

At that point my Mom decided I should be homeschooled.

My health improved a lot but in 8th grade I decided to return to public school. I wanted to be with my friends and do what other kids did (mostly). I made it through most of the year with only a few problems. (I freaked my teachers out resetting my dislocations and subluxations but honestly that was kind of fun.)

The last few months of 8th grade the terrible pain in my hips returned and I couldn’t even tolerate sitting in a wheelchair. Thankfully the school let me finish the year from home and after several months the pain became tolerable again.

Over this past summer I developed an entire new set of problems I began breaking out in a rash almost everyday, I ran a fever, got dizzy, had terrible mind blowing migraines, I would be weak and sleep for days. I would get frostbite in October just sitting in my classroom at school. I began having terrible chest pains, turning gray in color and was terrified I might die.

After dislocating my shoulder (AGAIN), just walking down the hall. My orthopedic surgeon sent me back to our geneticist (again) and this time my “uniqueness” caught his eye. He has sent my back scans off to a “professional panel”, ordered Marfans gene testing (it seems a small percentage can have Marfan’s without the defect), and had my heart checked again.

I take loratidine to help control the rashes and MCAD. I consume extra salt to try and control my blood pressure and I am once again homeschooled because I am not strong enough to fight the germs in public.

I see a dermatologist, cardiologist, geneticist, pediatric orthopedic surgeon, physical therapist and chiropractor (occasionally). I spend a lot of time resting or randomly falling asleep while my body tries to fight everything.

I know that none of my diseases currently have cures and are pretty rare but I refuse to step back and let them run my life.

I still see my friends, irritate my siblings, love my cats and dog and drive my momma nuts.

My mom is encouraging me to start a teenage blog (with my sister) about my struggles with chronic illness and I am just not sure I want to.

I write stories but nobody is allowed to read them.

I am not sure I want to share my struggles with the public.

I mean who wants to hear about my dislocation or the fact I couldn’t go to a dance with my friends this weekend?

Mom says it will help people but I am just not sure.

I am not giving up and stepping back I am going to fight for everything I enjoy (except soccer….Mom says NO soccer or bungee jumping or sky-diving). Mom says no to a lot of things.

And while I get that it still bothers me.

For right now this is my life.

Thank you for listening I hope it encouraged you today.

Mom says to tell you we will keep you updated through her and blog the one I am going to start.

If you want to follow Rachel’s story, other “Real Life Stories” and discover when she starts her blog you can follow us here on facebook: https://www.facebook.com/thezippyzebra or sign up below for email or RSS feed notifications.

If you have a story you would like to share be encouraged to check out our submissions page.

If you want to encourage Rachel to share more please feel free to leave a comment below. If you wish the comment to remain private simply type “PRIVATE” in the comment itself and it will not be published.

Don’t forget to check out Rachel’s poem here.

UPDATE: Genetic testing has ruled out Marfan’s and Vascular EDS but more issues have evolved and you can read some of those in the following posts.

Scariest Night of Our Lives

Scariest Night of Our Lives #2

Scariest Night of Lives #3

A Positive ER Visit

Dear ER Doc

Dear ER Staff Thank You

Feel free to share this story, Rachel’s poem or any other part of The Zippy Zebra you feel would encourage others in any of the social medias below.

Thank you for stopping by and we hope you were encouraged today.

Tags: Chronic Illness, Diagnosis, EDS, Ehlers Danlos, Marfan Syndrome, POTS, Scoliosis, Teenager

Inspiration, Real Life Stories | TinaMiller | February 24, 2015 9:42 am

5 Comments

By valerie woods, February 24, 2015 @ 11:19 am

Hi Rachel!
I love your article. I will share it with my 11 year old. She was diagnosed almost a year ago and things are starting to progress rapidly. I know she would love to hear more from you. In fact, she wants to write to you. Please let us know how to contact you and if you have a facebook page or blog we can follow. Gentle Zebra hugs to you.
By TinaMiller, February 24, 2015 @ 11:43 pm

Valerie,
Feel free to email me at thezippyzebra@outlook.com and we would be happy to give you a more personal way to contact us.
As the Mom of a child I am sure you understand not wanting to share on a public forum.

Thanks for encouraging Racel.

She read your response and was excited. We cant wait to her from her.

Thanks,

Tina
By Leah, February 15, 2016 @ 12:13 pm

Thank you for having the courage to share your journey, thus far, Rachel. I am sure it can help others, especially other teens who may feel alone, whether due to health issues or just regular teenage stuff. You are truly brave and a fighter.

PS Love the T-shirt!
By Bev, October 5, 2018 @ 8:18 pm

I have Beals syndrome it is very similar to marfans but without the heart issues…the medical name is congenital contractural arachnodactly or cca for short…