Friday, August 08, 2008

midwife appt yesterday

So it appears that my placenta is no longer down low, which is very good news. Barring some last minute emergency or something else, I can deliver him without a c-section! It really is a relief. I've never had one and I don't care to have one. Obviously, if I needed one in an emergency, then I would happily do whatever was necessary to keep him healthy. In the end, that's the most important thing anyway.

I'm measuring huge for 27 weeks. The midwife in training who handled my appointment measured me twice, because she didn't believe it. I'm five weeks ahead in uterine size, which is pretty large. Jonathan is measuring about a week ahead in length and everything else, and I have a little bit of extra fluid, but the main culprit seems to be being pregnant four times. I suppose I shouldn't expect to look like the tiniest pregnant lady in the world ;).

He was awfully cute in the ultrasound. Janie came with me this time and she loved it. Maybe he knew his sister was watching, because he yawned on the screen for her. With as many ultrasounds as I've had in the last 6 years, I've never seen that. Even the ultrasound tech gasped and said he looked like a cutie. I have to agree.

On a more serious note... my dad has been diagnosed with a genetic disorder (disease?) called Marfan Syndrome. I have a 50% chance that I inherited it from him and if I did my kids have the same chance of inheriting it from me. It's kind of serious, but also pretty manageable. If I don't have it, the good thing is that I can't pass it to the kids. I could tell you more, but it would be way too long of an entry. The only issue that's really concerning to me is that if I have it, it could be of some risk to me when I deliver Jonathan. Many people with Marfan have an enlarged aortal root (where the aortal artery leaves the heart, on top??) which makes them much more likely to have an aortal aneurism (sp?). Evidently, during childbirth, the weakening of the arterial walls can cause them to rupture, due to the strain of pushing. I don't understand all of the details, but I'm supposed to have an ecchocardiogram (sp?) next Thursday, which would catch any abnormalities. I'm probably fine, but it will be comforting to know that for sure. If I do have an abnormality, then I'm not sure what will happen after that. I suppose we'll find out.

Anyway, thanks for reading this far and I'll update soon on the outcome. If you want to know more about Marfan, you're welcome to read the description below. It comes from the Marfan Foundation's website, which is located at www.marfan.org.

"The Marfan syndrome affects people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the disorder progresses as the person ages. The body systems most often affected by the Marfan syndrome are:

* Skeleton
- People with the Marfan syndrome are typically, but not always, very tall or taller than unaffected people in their family, slender and loose jointed. The Marfan syndrome affects the long bones of the skeleton. Therefore the arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with the Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet. For more information: Orthopedic Concerns Brochure; excerpt from The Marfan Syndrome

* Eyes
- More than half of all people with the Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. Retinal detachment is a possible serious complication of this disorder. Many people with the Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness). For more information: Ocular Concerns; excerpt from The Marfan Syndrome; Pediatric Eye Issues; Management of Dislocated Lenses
.

* Heart and blood vessels (cardiovascular system)
- Most people with the Marfan syndrome have problems associated with the heart and blood vessels. The valve between the left chambers of the heart is defective and may be large and floppy, resulting in an abnormal valve motion when the heart beats. In some cases, the valve may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not cause any symptoms, but larger ones may result in shortness of breath, fatigue and palpitations (a very fast or irregular heart rate). Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilation. Aortic dilation increases the risk that the aorta will tear (dissect) or rupture, causing serious heart problems or sometimes sudden death. For more information: Cardiac Concerns; excerpt from The Marfan Syndrome; Emergency Diagnosis and Aortic Dissection

* Nervous system
- The brain and spinal cord are surrounded by fluid contained by a membrane called the dura, which is comprised of connective tissue. As people with The Marfan syndrome get older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. This is called dural ectasia. These changes may cause only mild discomfort or may lead to radiated pain in the abdomen or to pain, numbness or weakness of the legs. For more information: Dural Ectasia; excerpt from The Marfan Syndrome

* Skin
- Many people with The Marfan syndrome develop stretch marks on their skin, even without any significant weight change or pregnancy. These stretch marks can occur at any age and pose no health risk. The stretch marks tend to appear at sites subject to stress such as shoulders, hips and lower back. The stretch marks require no treatment. In addition, people with the Marfan syndrome are also at increased risk for developing an abdominal or inguinal (groin) hernia where a bulge develops that contains part of the intestines. This requires medical treatment.

* Lungs
- Restrictive lung disease, primarily due to pectus abnormalities and/or scoliosis, occurs in 70 percent of persons with MFS. In addition, because fibrillin is expressed in the lung and is associated with elastin there, Marfan fibrillin –1 deficiency is thought to affect both lung development and homeostasis. Spontaneous pneumothorax (collapse of the lung in the absence of trauma) and early emphasema, without a history of smoking, may be consequences of the fibrillin-1 deficiency. Sleep-related breathing disorders, such as snoring and sleep apnea, are also associated with Marfan syndrome, even when the person is not overweight. For more information: excerpt from The Marfan Syndrome; Marfan Syndrome and the Lungs"

3 comments:

katiek said...

Glad your placenta moved, Hallelujah! I figured I was having a girl because I am measuring small! I guess I paid my dues with a 9lb12oz Josiah. Yeah!

I think the Perkins were investigating that condition for Gideon. He has the sternum and Andy and his brother have some characteristics. I could be wrong, but the symptoms sound familiar.

alli said...

My SIL thinks her youngest daughter might have Marfan as well. Genetic heart problems run in her husband's family and she has the characteristic sunken chest. There is a surgery she could have, but they are waiting for a while before making decisions.

So glad your placenta moved. Had me a little worried there!

Karen said...

Alli--Yeah, the symptoms are so varied and vast I think it's hard to get a diagnosis, but it's great when they catch it early. I hope they figure out what is causing your niece's heart/chest issues. The National Marfan Association had something on their page for conditions that were similar to Marfan. Maybe that would be helpful to them. I'm sure they don't need more info, but you never know.

I was worried too. After three pretty standard deliveries, it would have been a shame to have to get a c-section.