Monday, January 12, 2015

At Last... The Pain Was Real. Hypermobility and Noonan Syndrome, Not Just Growing Pains.

Last night I wasn't sleeping  up with Becca and Rebekah (My Cohort in running the Foundation) wasn't either. We have been researching links to use along with our Noonan Syndrome Facts for supporting documentation.  Rebekah Facebook messaged me at 1:32 AM Central time, she found a hand out by a Doctor presenting to the American Pain Society from 10/12/14 that talks about Hypermobility and Noonan Syndrome.

Through my blurring lack of sleep vision, it took me a couple of minutes to realize that the doctor who wrote it was no other than  Dr. Rudin, Becca's Pain Specialist.  He had promised me that he would prepare something we could use as a Webinar after October and he was the first one who really tied the pieces together of Becca's pain and her connective tissue issues.  He and I have had the privilege of working together for the past 3 years and he got a crash course of understanding Autism and Post Traumatic Stress as Becca was not the model patient.  Enough said. After all the fighting of my our insurance company for over 4 years to get her there, I figured there must have been good reason.  The harder I have to fight for something the more I have learned that it is a answer or a miracle in the waiting.

The adults in the NS community such as Michelle Ellis and others have been trying to educate the Noonan Syndrome Doctors about the pain since the late l990's. Michelle was so helpful in putting words and understanding to what Becca was dealing with. The Noonan Syndrome List and Facebook pages the subject of pain and our kids/adults hurting is very prominent and we have had no answers.  Too many times parents have been told that it is just "growing pains". They send them to PT to strengthen them, but our kids fail the regime or there pain is worsened.  But  now the doctors acknowledge the pain and we are now beginning to have an understanding of why. The dots have been connected. But just like their is a spectrum within Noonan Syndrome, there is a huge spectrum and not all have issues with pain and hyper mobility. It may be a two year old who is crying in the night complaining their leg hurts to an adult who used to be an athlete now disabled from a body that is falling apart in severe pain and everything in between.

With all the advancements in the knowledge of the Rasopathies and the overlap we are seeing more Scientific understanding of the complexity of the issues faced by those with Noonan Syndrome. I have been working hard on trying to find answers to help Miss Becca and they are coming. Grass roots parent advocacy and "just a mom" research have found clues.  With sharing what we learned with Becca more kids are being diagnosed with hypermobility syndrome and some of the strategies we have learned are helping others.  But nothing was in writing anywhere other than a few tidbits here and there. There have been a few studies and information but it has not translated clinical practice.  Last night we have real hope on the hypermobility front.  Someone reputable connected the dots from the old literature.  We now have a place where we can send parents/professionals and they have to listen. It wasn't just growing pains.

I have found bits and pieces of literature on Noonan Syndrome and Connective Tissue.

They knew in 1974. The Noonan Syndrome, A Family Study  "Hyperelastic skin and microscopic abnormalities of biopsied blood vessels suggest a basic defect in connective tissue in this disorder."

Another link that labeled Noonan Syndrome as a Heritable Disorder of Connective Tissue from the Connective Tissue and its Heritable Disorders. Molecular, Genetic and Medical Aspects, Second edition.  Published in 2002.

In another article Ehlers Danlos syndrome--masquerading as a primary muscle disease it talks about "The diagnoses of Marfan Syndrome, Marfanoid hyper mobility and Noonan Syndrome which might resemble Ehlers Danlos Syndrome."

Hypotonia is always listed on almost every description as part of Noonan Syndrome. There was a reason why. It is at the cellular level. Noonan Syndrome is a Cardiocutaneous Syndrome it affects the heart why not think it can affect the skin and tissues as well.

Going through Becca's story... words cannot adequately explain what we see everyday. I created this video to give her a voice.  Sharing her story.

"Tiny Titan Media's The Pain is Real"   November 5, 2013

Finally at Last.... Some HELP, HOPE and a beginning. We have a handout to show the doctors, schools, therapists and professionals.  It is a start...

STRETCH YOURSELF, Learning to Manage Chronic Pain with Joint Hypermobility.

Nathan J. Rudin, M.D., M.A.
Associate Professor (CHS), Rehabilitation Medicine University of Wisconsin School of Medicine and Public Health
E. Richard Blonsky Memorial Pain Lecture
Midwest Pain Society 38
th Scientific Meeting, October 24, 2014