Marfan Syndrome Awareness for Educators (A Guest Post)

When I learned that February is Marfan Awareness Month, I invited my friend Maya to contribute a guest post to my blog. I am so grateful she accepted! As we chatted about what to discuss, our conversation went in the direction of signs that teachers (and parents or anyone who works regularly with children) should look for that may indicate a child should be further evaluated for Marfan Syndrome.

marfan monthMaya says:

I’d like to thank Paula for the opportunity to share with all of you some information about a cause close to my heart: Marfan syndrome. Both my youngest son and I have Marfan. It’s a potentially life-threatening connective tissue disorder that can affect much of the body, including the heart and aorta (the main blood vessel running from the heart), the eyes, the lungs, the skeleton, and skin. People with Marfan are at risk for rupturing the aorta, which can be fatal and is why early diagnosis is so important. Prompt diagnosis and monitoring leads to greater chances for preventative surgery and an average life expectancy. Today, in honor of Marfan Awareness Month, I’d like to share with you some signs you could see in the classroom that indicate a child may need to be evaluated for Marfan syndrome or a related disorder.

maya

Maya

Skeletal clues: People with Marfan tend to be taller than their unaffected family members, and thin. They have disproportionately long features as well: long legs, arms, face, fingers and toes. They may also have flat feet, scoliosis or kyphosis (forward rounding of the upper back), and unusual stretch marks.

Poor handwriting: People with Marfan syndrome are double-jointed (hypermobile) and often have poor fine motor control. This can result in a unique pencil grip, difficulty cutting with scissors, and illegible handwriting due to poor grip on the pencil or the hand tiring easily.

Difficulty reading the board: About 50% of people with Marfan syndrome experience dislocation of the lenses in their eyes. This makes them near-sighted. Near-sightedness can also occur without lens dislocation. Children with vision issues may also appear to have difficulty sitting still or concentrating.

Delayed gross motor skills: Children with Marfan can appear to be very uncoordinated, due to gross motor delays and hypermobility. This is actually what got me diagnosed, when I was 8 years old. My mother noticed that I could not skip, ride a bike, and that I tired out much more easily than other kids my age.

Obviously any one of these could appear in the general population; it’s when they begin to appear together that they may be of concern. If you suspect Marfan syndrome in someone you know (or yourself!), resources are available. School nurses, the National Marfan Foundation has information for you (click on this link for more info). The foundation also has resources for parents, patients, and medical professionals at www.marfan.org, including a clinic list and information on what tests are needed for a diagnosis.

Remember: Early diagnosis is vital!

 

The List

This post is starting today, and, if everything goes according to plan, will be capped off next Sunday by a confirmation from me that I completed the Boston 13.1 Run as an Autism Speaks team member. I don’t plan to write a full post next Sunday (a rarity in the three years I have been blogging weekly) because by that evening I will have run the race in Boston and made my way to New York City. I have roughly 60 hours in the City and plan to squeeze in every moment of BigApple-ness that I possibly can.

On February 14, 2012, I read this post and announced to my husband that evening that the best Valentine’s Day gift he could give me would be an endorsement of my running the Boston 13.1 on September 16. He wisely said yes (not that a “no” would have been anything to me except a minor hurdle!) and the planning began.

There are many reasons why I chose this race, in this place, on this day. I documented three of the biggest reasons in this April, 2012, post. As the precursor to running the race, I want to dedicate each of the miles.

Mile 1:   Mile 1 is dedicated to the Florida State University Center for Autism and Related Disabilities. CARD’s First Words Project provided assessment, support, and services to our family when my son was young and taught me about the pre-verbal developmental signs that may indicate a child has an autism spectrum disorder. And they answered my zillion questions, not to mention empathizing with my spiraling-out-of-control anxiety.

Photo credit: FSU Autism Institute

Mile 2:  Mile 2 is dedicated to the HollyRod Foundation. Admittedly, most of my impression of the HollyRod Foundation’s work on behalf of Autism has been gleaned from reading Holly Robinson Peete’s tweets, and her open letter to Rapper 50 Cent. Those tweets and that open letter were enough for me to know that a) she loves her boy and b) she uses her fame in an articulate and focused way to help others with Autism. That’s enough for me.

Mile 3:  For Thomas. Read his mom’s posts about autism here.

Mile 4:  For Kidlet.  Kidlet is the son of friends. He watches Carl Sagan’s Cosmos on Saturday mornings and he has Asperger’s Syndrome. Of course he rocks.

Mile 5:  For Kyan. Kyan is the son of Mary Foley, who is the Chairperson of Jacksonville, Florida’s, Walk Now for Autism Speaks. Watch the 2 minute video on Mary’s “Why I Walk” post, and I guarantee it will be two minutes well spent.

Kyan

Mile 6:  For Josef, Cher’s son. Cher and I only know each other via Facebook, even though we live in the same town. Josef is 8 years old and has autism; his mom has been so supportive of every single one of my efforts related to autism.

Josef

Mile 7:  Mile 7 is dedicated to Delirious Mom, conductor of her self-described “Crazy Train,” and her daughters. Read about her experiences being the mother of twin girls who have autism here.

Delirious Mom’s Girls

Mile 8:  Mile 8 is dedicated to Giana.  Giana’s grandmother, Christine, became a social media friend of mine through our families’ experiences with Long QT Syndrome. Giana is young and is still having various assessments done.  At this point Giana is believed to have SPD (Sensory Processing Disorder) and is receiving the recommended therapy and is making wonderful progress.

Mile 9:  Mile 9 is dedicated to Boy Wonder, a six year old with autism. I can’t wait to meet his mother, “Jersey,” at the run. That alone will be worth the hundreds of miles traveled to Boston and the 13.1 miles of running. Read her blog; it will only take you a few posts to understand why.

Mile 10:  Mile 10 is dedicated to Carly Dowling. Carly used to be my daughter’s dance teacher but has remained a friend and role model. She teaches children with autism in South Florida. She deserves much more than a mile.

Miss Carly, Teacher and Friend

Mile 11:  Mile 11 is dedicated to “The Menininho.” He is the son of my incredibly resourceful and engaging social media friend, Maya, who blogs about many things, including Marfan Syndrome, at www.marfmom.com. “M” was diagnosed with autism in 2010.

Mile 12:  Mile 12 is dedicated to Temple Grandin, Ph.D. Temple Grandin is an adult with autism who is a prominent author and speaker on the subject of autism. Every time I hear her interviewed, I am blown away by her intellect, her perspective, and the contributions she has made in so many areas.

Mile 13:  Well, Mile 13 and the extra .1, here you are. And I pray that next Sunday by 10:30 am. (race cut off time), that is where I will be too. One family that has gone the “extra mile” and then some is Luau, whose post kicked off this journey and Jess, whose many written-at-4am-to-the-detriment-of-her-own-well-being posts have taught me, encouraged me, entertained me, and motivated me. So for the two of you, for Brooke, and for big sister Katie (and even the dog), this mile point one is for you.

Even the dog “goes blue” to support Autism Speaks

I have only scratched the surface with these dedications when it comes to the people and organizations who have impacted me when it comes to understanding more about autism and becoming an advocate. If I didn’t identify you by name, please know that you and your family matter so much.

And now, a placeholder until next Sunday night, when I plan to report back on my first half marathon:

Photo Credit: FreeDigitalPhotos.Net

 See you next Sunday night!!