As a follow up to yesterday’s post, we now know today which direction we are going regarding Eliza’s health and a possible diagnosis. What I did not say yesterday about that day in China when Blake and I were questioning what was going on with Eliza medically, was that I told Blake that I thought Eliza has Marfan.
(I will sprinkle some cuteness through this wordy post…)
We think I may be right. Pediatric Specialties is questioning Marfan as well. They are also making sure that she does not have Spina Bifida, since that is the diagnosis that was on her referral paperwork. Even though we do not see outward signs of it, there are types of Spina Bifida that are “very slight”, for lack of better words.
We will be going in these directions with our next appointments by seeing a geneticist, as well as seeing the Pediatric Orthopedic Specialist, who is also the medical director of the Spina Bifida Clinic. There is also that sedated MRI that we will have, which we pray will help with a diagnosis as well.
Marfan is a connective tissue disorder. Characteristics of Marfan are extra long arms, legs, fingers and toes; hypermobility in joints (being able to bend in ways that others cannot – sometimes called double jointed); having a pronounced or a sunken sternum (chest bone); a high pallet in the mouth with very crowded teeth; and flat feet. This disorder can affect the skeletal system (bones and joints), eyes, cardiovascular system (heart), blood vessels, lungs and the skin. As with any disorder, it will affect each person differently.
Eliza has some of the characteristics of Marfan. The way she can bend scared us at first! Her fingers are very long, her sternum is pronounced, her teeth are very crowded, and her feet are flat. She also has that scar on her back. IF it is Marfan, as far as involvement with her eyes, lungs and heart – time and testing will tell.
Right now we have more questions than answers ourselves, but we have confidence in the direction we are going! We still stand amazed, diagnosis or not, at this little miracle. In all reality, she may end up with NO diagnosis….and leave us always wondering what that scar is on her back. Either way, Eliza is fearfully and wonderfully made, and we are privileged beyond belief to be her Mom and Dad!!