Sunday, September 23, 2012

Dear Noah.....getting checked for Marfan's syndrome...

 Well...since you have quite a few of the characteristics of Marfan syndrome on top of everything else..we had to go see a specialist at the Children's Hospital in Cincinnati last week.

Marfan syndrome is an inherited disorder that affects connective tissue, which supports and anchors your organs and other structures in your body. Because connective tissue is such an integral part of your body, Marfan syndrome may disrupt development and function in several sites. Most common are your heart, eyes, blood vessels and skeleton.

People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. Marfan syndrome is caused by a dominant gene, which means one of your parents also has the gene and passed it to you.

Marfan syndrome features may include:
  • Tall and slender build  (yes ....check positive for this for you)
  • Disproportionately long arms, legs, fingers and toes (check..your arm span is longer than you are tall)
  • A breastbone that protrudes outward or dips inward (negative)
  • A high, arched palate and crowded teeth (not that high arched)
  • Heart murmurs (yes along with bicuspid aorta, aortic stenosis and some leaking)
  • Extreme nearsightedness (yes)
  • A curved spine (no)
  • Flat feet (yes..extreme)
  • Straie (yes..and in strange spots on your body and you are skinny)
  • Hyper-reflexic joints ( always have been super flexible...beyond the normal range of joints)
Cardiovascular complications
The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta, the large artery that curves over your heart and supplies blood to the body, then splits in your pelvis to supply blood to your legs.
  • Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your artery to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart. The bulge can spread along the entire length of the aorta, into your abdomen. If it ruptures or tears, you may die.
  • Aortic dissection. The wall of the aorta is made up of thin layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and often results in a rupture, which can be fatal.
  • Valve malformations. People who have Marfan syndrome are also more likely to have problems with their heart valves, which may be malformed or overly elastic. When heart valves don't work properly, your heart muscle often has to work harder to compensate. This can eventually lead to heart failure.
Eye complications
Eye complications may include:
  • Dislocation of the lens in one or both eyes because of weakness in the ligaments that hold the lens in place.
  • Glaucoma, a condition in which abnormally high pressure within your eyes damages the optic nerve. Symptoms may range from sensitivity to light and glare to severe eye pain, blurred vision and blindness.
  • A cataract, which clouds the eye's normally clear lens.
  • Detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
Lung complications
Marfan syndrome can cause breathing difficulties, either from defective connective tissue or from chest wall abnormalities. Severe spinal curvature or a concave chest, for instance, may restrict your breathing and cause you to feel short of breath during mild or moderate activity. People with Marfan syndrome are also at higher risk of:
  • Emphysema
  • Chronic obstructive pulmonary disease
  • Collapsed lung
  • Sleep apnea

She feels you probably do have it...but again, we are already doing everything we should in regards to it. It is mostly preventative things.

The main thing to be concerned with for you would be any change in any characteristics or symptoms you already have..mainly those regarding the heart. Obviously we all want to avoid any surgery for as long as possible if not for your entire lifetime...and we want to avoid an aortic aneurysm or dissection.

So we will need to continue to monitor your heart with the cardiology visits we already do...and repeat echocardiograms to monitor your heart and valves for changes. We already have your eyes checked yearly and you get a physical yearly. We are taking care of your flat feet. We are watching for any changes in the spine or lungs. You are avoiding contact sports and extreme physical we are already doing the things most docs would recommend anyway. We  may see a geneticist one day...and maybe one day you will have some testing done...but it does not change the way we would treat you for now we will avoid that as most likely our insurance may not cover that cost as those tests are very expensive...and/or you may not be able to handle the blood work very well. 
 So we keep plugging along. You have a cardiology appointment and repeat echo coming up in October. Hopefully all will be the same and nothing will need to be changed.

Meanwhile you are growing fast. As you can see by these are now longer and taller than these pediatric examining tables at Children's Hospital (though I know they probably have an extension there underneath your leg area).

Homeschool is going well. You are doing so much better as far as getting your butt in here and DOING school than in the past..and you are doing well thus far with the 2 high school courses you are taking as an 8th math and English.

So,  now we are heading into fall. I wonder where the year has gone. I look at you and wonder the same thing. You are growing up so very fast...and time keeps on tick tocking away...for you and me both! Makes me a little sad....but also a little excited to see what the future holds for you as well as myself. I still cannot imagine one day you being out on your own and me being here in my home all by myself. You have been with me since you were born. So that will be a big adjustment...

but let's not rush

I love you much more than you will ever know.