Walking In The Dark

I joined Ep over a year ago now after i was told my son has Marfans and i was looking for support groups/information about this syndrome Wow what a roller coaster the last year has been. We lived in A state in Australia that has poor health care and after his initial diagnoses i was told by a dear close friend on here to take him for a blood test to see what level of Marfans he has i took his advise but little did i know that the stupid doctor tested for everything else apart from marfans also his orthopedic surgeon said that there was no way he had narfans because he's body was "to rigid".
So we have gone through the past year with his height being 167cm and he's arm length from the tip of one finger to the tip of the other being 169cm he's body weight only 38 kilos his scoliosis is at 68 degrees curvature and his lung capacity at the time I'm writing this at 22% lung capacity.
We moved states for better health care and its worked finally someone has properly diagnosed him with defiantly having Marfans syndrome plus other problems they are going to perform he's scoliosis surgery  within the next three months and he is also having a muscle biopsy and muscle nerve test within the next few weeks the doctor who told us all of this is one of the  leading muscular connective tissue disorder surgeons in the world.
I was once afraid of the words Marfans Syndrome but for the past year my son and i have walked in the dark not knowing what was wrong with him or what to fix first i am no longer afraid of Marfans because i now know my son even though has a weak body has a strong mind and together we can get through anything
gypsymae gypsymae
31-35, F
5 Responses Jan 20, 2011

I to have a handy cap son. I adopted him when I married his mother. I am not sorry that I did. His mother has passed but my son is very likeable. With him no body is a stranger.

hi, I'm making a Marfans Syndrome awareness websiteto help families who have found out or think they they might have the disease. For part of the website I need personal stories from people who have experienced what it is like to give hope to those who may or do have it. I would love to use you story if possible. Please message me on my profile if you would like to do this. I hope I can raise awareness to this rare disease. Thank you

I'm so glad to read about your perseverance. I've read so many stories about misdiagnosis and their tragic results. In our case the saying is absolutely true "Knowledge IS Power".

Inspiring! Like you I would do anything to make my kids life better. Dr's don't always get it right. Stay strong.

And walking together through anything is beautiful. It's what makes life meaningful.