Wednesday, October 28, 2015
Tuesday, October 27, 2015
Thursday, October 8, 2015
Iowa Public Radio: The Most Common Rare Medical Syndrome You've Never Heard Of
Radio Interview with Dr. Jacqueline Noonan and others on Iowa Public Radio
Originally aired February 27, 2014.
With Dr. Pamela Trapane, Ann Yurcek, and Nicole Reid a parent of Max with Noonan Syndrome.
I was blessed in being asked to be apart of this Noonan Syndrome Awareness opportunity. Being interviewed along with Dr. Noonan was an incredibly momentous occasion and with her retirement a historical documentary of Noonan Syndrome for all time.
Thursday, September 10, 2015
11 Signs of Autism in Girls
With Autism and autistic tendencies being a part of Noonan Syndrome, understanding and seeing the signs in our girls is incredibly valuable.
Anny, Mom to two girls on the spectrum.
Saturday, September 5, 2015
Article: Prevalence of Autism Spectrum Disorder Phenomenology in Genetic Disorders: A Systematic Review and Meta-analysis
For a long time persons within the Noonan Syndrome population had symptomatology of sensory and social skills that were similar to those who are affected by Autism. Slowly a few individuals were diagnosed and often fought for those diagnostics but told by the school one could not have both.
Research has now caught up and this article is a keeper when trying to get assessments and supports for those with Noonan Syndrome and Autistic tendencies.
Prevalence of Autism Spectrum Disorder Phenomenology in Genetic Disorders: A Systematic Review and Meta-analysis. 9-01-15 The Lancet Psychiatry.
Yes, those with Noonan Syndrome can be on the Autism Spectrum.
Friday, September 4, 2015
I had seen a post where a grieving Mom had created Welcome to My Home Door signs that warned people that a medically fragile child lived there. I contacted her because I needed one that said Children instead of a child. She so graciously quickly emailed me one for Becca and Mackie. I bought it for her cause and today I found someone had posted a FREEBIE. I have mine up and I see that people are more conscientious of watching out to make sure both of my kids stay healthy.
The freebie posted on Strugglingtosurvive.com
Welcome Sign: This is the home to a medically fragile child.
I hope you enjoy this amazing find. Thank you to the creator of this!
Our kids are not the only ones with Post Traumatic Stress Disorders. There is much being written these days about Mothers of those with Autism and other disabilities having some of the same symptoms as the soldiers who have served in combat.
Some of us parents know this well and today I found this article and set of resources and thought it was worth sharing with my fellow soldiers.
Yes, I do have PTSD. I have compounded PTSD as I had to survive the war of earning my adoptive children's love and their intent to push me away and off the stairs. But I have learned to live with and manage it, and it has given me unique insight into my own children's PTSD.
Thursday, September 3, 2015
When Becca was born in l989, they did not use pain medication. The just poked her time and time again. They somehow did not think babies felt pain. The early signs of Becca's PTSD hinted whenever she would see the blue scrubs approach her she would go catatonic and hide into the depths of her spirit. By age 8, I questioned that she seemed too fearful and her doctor visits complicated by misunderstanding doctors who wanted to take away her comforting items. Expecting her to grow up.
Those doctors would be shut out of her life and I would watch her sink into more and more of her autistic tendencies and the aftermath of the appointments... explosions or she wanted to control everything.
Years of close calls, misunderstanding medical professionals and medical mistakes continued to leave more triggers and more anxiety.
When she was l9 she would finally be diagnosed with what I had seen for many years. Post traumatic stress disorder. The vary care that would help keep her alive, would traumatize her.
But the medical community was not ready to know what to do to help her. I learned to trust my instinct and put into practice some of the lessons I had learned with my adopted children who also have Post traumatic stress. I also carry the disorder as parents of medically involved children can develop PTSD as well.
Becca cannot see a hospital gown, she can now verbalize that she needs it hidden. We plan ahead to make sure she has her own scrubs and it is noted on all her records that to make sure it out of sight. We work with the hospital staff to help them understand her trauma history and when they plan for it it lessens her anxiety.
I am posting this article, because it hit home. I could have written it myself. I look forward to her upcoming book and hope that I will find healing in sharing some of the same journey.
Writing about PTSD in Children Was Not on My Bucket List.
New Article: Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations
Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations by Elizabeth I Pierpont
Recently I had the privilege of having input on this article by Elizabeth I. Pierpont. I wish we had something like this years ago, it may have changed the course of Becca's education. But now the kids for years to come will have this to help the professionals understand what to look at and tools to help our children have better education and outcomes. Her work has helped us shed light on aspects of those affected by Noonan Syndrome. I want to thank her for the difference she is making in the lives of those with Noonan Syndrome.
Thursday, August 27, 2015
The Noonan Syndrome Foundation is excited to announce that we have opened a patient registry for individuals with Noonan syndrome and Noonan syndrome with multiple Lentigines (AKA: LEOPARD syndrome).
Registering is easy and free! You can fill out as much information as you can and update your information anytime something changes. Your information is kept secure, and personal information is not shared without your permission.
Here is the link to the registry: https://connect.patientcrossroads.org/?org=noonan
Here a a video from PatientCrossroads talking about the registry: http://vimeo.com/patientcrossroads/short1
Please email us at firstname.lastname@example.org with any questions you have regarding the registry.