medline plus states
"In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect."
So from that description you can see i am a Mutant. Being a mutant isn't all that bad however it doesn't come with all the comic book benefits. I cant climb on walls or shoot laser beams from my eyes.
Some back ground info on me I was born October 12, 1985 in the middle of the Texas OU football game.
Throughout my younger years my mother fought with the doctors for a diagnosis for myself. Finally when i was 7 my mother found someone who diagnosed me with Marfans Syndrome. No one else in our family has Marfans that we know of however my mothers father died at an early age before i was born so he was not able to be tested.
Marfans has several traits.
Skeletal system
"Most of the readily visible signs are associated with the skeletal system. Many individuals with Marfan syndrome grow to above average height. Some have long slender limbs with long fingers and toes (arachnodactyly). This condition of elongated limbs is known as dolichostenomelia. An individual's arms may be disproportionately long, with thin, weak wrists. In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal anomalies. "
I had surgery in 2000 to correct the 70* Curve in my spine.
Also common is abnormal indentation (pectus excavatum) (I had surgery in 1995, they went into my chest cavity and retrieved my sternum and brought it to the front.)
or protrusion (pectus carinatum) of the sternum. Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, hammer toes, stooped shoulders, unexplained stretch marks on the skin. It can also cause pain in the joints, bones and muscles in some patients. Some people with Marfan have speech disordersresulting from symptomatic high palates and small jaws. Early osteoarthritis may occur.
Eyes
I have yet to have any problems with my eyes yet however i get my eyes checked every year for the eye problem.
Marfan syndrome can also seriously affect the eyes and vision. Nearsightedness and astigmatism are common, but farsightedness can also result. Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) (in 80% of patients) also occurs and may be detected by an ophthalmologist or optometrist using a slit-lamp biomicroscope. In Marfan's the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal. Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.[9] Early onset glaucoma can be another related problem.
Cardiovascular system
I go in bi-yearly to get echocardiogram to check on my Mitral Valve and Aorta root. Growing up with this i was unable to play contact sports for fear that if i got hit at the right time my valve would have a rush of blood and pop.
Febuarry 24 2010 I underwent Mitral Valve repair surgery. I was in CCU for 5 days then 1 day in general recovery + 9 weeks of recovery.
he most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or Angina pectoris with pain radiating to the back, shoulder, or arm. Cold arms, hands and feet can also be linked to Marfan's syndrome because of inadequate circulation. A heart murmur, abnormal reading on an EKG, or symptoms ofangina can indicate further investigation. The signs of regurgitation from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves which is commonly associated with Marfan's syndrome (see mitral valve prolapse, aortic regurgitation). However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm. Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency. An aortic dissection is most often fatal and presents with pain radiating down the back, giving a tearing sensation.
Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.[10] Care should be taken to attempt repair of damaged heart valves rather than replacement.
During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated. For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and echocardiography should be performed every six to ten weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.[11]
Lungs
I get Walking pneumonia almost once a year like clockwork at the end of the old year and beginning of the new. This year God was good to me and figured id had been through enough.
Marfan syndrome is a risk factor for spontaneous pneumothorax. In spontaneous unilateral pneumothorax, air escapes from a lung and occupies the pleural space between the chest wall and a lung. The lung becomes partially compressed or collapsed. This can cause pain, shortness of breath, cyanosis, and, if not treated, death. Marfan syndrome has also been associated with sleep apnea and idiopathic obstructive lung disease.
Central nervous system
So far i do not have any Central Nervous system symptoms and pray i do not have them.
Another condition that can reduce the quality of life for an individual, though not life-threatening, is dural ectasia, the weakening of the connective tissue of the dural sac, the membrane that encases the spinal cord. Dural ectasia can be present for a long time without producing any noticeable symptoms. Symptoms that can occur are lower back pain, leg pain,abdominal pain, other neurological symptoms in the lower extremities, or headaches. Such symptoms usually diminish when the individual lies flat on his or her back. These types of symptoms might lead a doctor to order an X-ray of the lower spine. Dural ectasia is usually not visible on an X-ray in the early phases. A worsening of symptoms and the lack of finding any other cause should eventually lead a doctor to order an upright MRI of the lower spine. Dural ectasia that has progressed to the point of causing these symptoms would appear in an upright MRI image as a dilated pouch that is wearing away at the lumbar vertebrae.[9] Other spinal issues associated with Marfan include degenerative disk disease and spinal cysts. Marfan syndrome is also associated with dysautonomia.
Historical figures The diagnosis of Marfan syndrome was not available until well into the 20th century, but there has been speculation on whether historical figures may have had it, based on sparse medical records, descriptions, and images. The ancient figure Akhenaten, an Egyptian pharaoh, was once believed to have had Marfan Syndrome based on his image in early Amarna art, however, this was disproven by forensic tests in 2010. Musicians and composers Niccolò Paganini, Sergei Rachmaninoff, and Robert Johnson are thought by some to have had the disease. Abraham Lincoln may or may not have had Marfan's syndrome, although he undoubtedly had some of the normal characteristic features. According to a 2007 theory, it is perhaps more likely that he had a different disorder, multiple endocrine neoplasia type 2B, that caused skeletal features almost identical to Marfan syndrome.
Now that you know where i come from you can see where im going.
| Pregnancy and Reproduction |
Couples considering pregnancy are advised to understand how Marfan syndrome is inherited in families so they know the risk of having a child with the disorder. If either parent is affected, each pregnancy has a 50-50 chance of producing an affected child. In addition, affected women considering pregnancy should understand the medical risks and special care needed to manage a pregnancy. The following are common questions to consider regarding pregnancy and Marfan syndrome:
Information taken from http://en.wikipedia.org/wiki/Marfan_syndrome , www.marfan.org
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