A change to her Point of View
Author, Paula Boer, is coming apart. She has Marfan syndrome, a connective tissue disorder. Its diagnosis has changed her life.
Paula Boer, was born in England and moved to Australia when she was 28. She now lives on 500 acres in the Snowy Mountains regions where she writes her books Brumbies.
Marfan syndrome is a genetic disorder. It is usually hereditary but for Paula there does not seem to be a family link. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. [1]
No other person in her family [that she knows about] has the syndrome. Her mother was 5’ 10”. Her father was 6’ and her mother’s brothers were 6’ 6”, all very tall. She thinks that it could have quite possibly come from her mother’s side of the family but she doesn’t think so as it would have been obvious symptoms.
Marfan Syndrome manifests itself in a variety of ways and it affects most parts of the body.
When Paula was an adolescent, she developed red welts on her legs that looked like stretch marks. It was the tissues pulling apart.
She does not have many adult teeth. One molar on each side.
Internal organs are in the wrong place. Her uterus is the other way about. Her appendix was found way up on the right side up near her arm pit.
She has a very short jaw and cannot bite. She lives on mushy food and she likes it. She has long fingers. Usually for those with this syndrome, the length of outstretched arms are longer than height, but in her case it is about the same. She does not have webbed fingers and toes which is the usual sign of the syndrome.
During her life she has adapted to her limitations. She did not like eating hard food like salad or apples.
Her oesophagus muscle that goes ‘down’ from the throat into the stomach just hangs there. It does not have peristalsis muscles so her food relies on gravity. It hangs there like a dead tube. She has to be careful what she eats.
[The oesophagus is a thin-walled, muscular channel lined with mucous membranes that connects the throat with the stomach. Food and fluids are propelled through the oesophagus not only by gravity but also by waves of rhythmic muscular contractions called peristalsis. At either end of the oesophagus are ring-shaped muscles (the upper and lower oesophageal sphincters), which open and close. The oesophageal sphincters normally prevent the contents of the stomach from flowing back into the oesophagus or throat. [2]It was her digestive system that first showed up as a symptom. She suffered from bad reflux. When the surgeon conducted an operation, he found that she had developed a hole in her diaphragm. An oesophageal hiatus is a hole in the diaphragm through which the oesophagus and the Vagus nerve pass. This nerve and artery are usually around the size of a 20c coin but Paula’s had broken open to the size that a man’s hand couldn’t close it. The movement of her stomach going up and down had abraded the vein and nerve, which has become the size of a small finger, and because of the Marfan syndrome, it will not heal.
The surgeon attached (by staples) patches over the tears in diaphragm to hold it together but it won’t heal and movement makes her sick.
She has arthritis in her spine, ankles, fingers and toes, since she was in her 30’s and now she is 55. She has scoliosis of the spine. Her joints are ‘double jointed’ and her circulation is very poor both symptoms of this syndrome.
She ‘broke’ a tendon [it pulled apart] about a year ago and it still has not healed. It swells and is always painful.
Her right knee ‘has gone’ and it is continually sore now. She is concerned because the knee will not heal and that all her joints will begin ‘to go’. She cannot bend (squat) and can’t get up as her knees don’t work.
Another symptom- that has not shown up so far- because of the stretchiness of the tissues, is the aorta muscle spreads which will stop the heart working properly. She has to have an ultra sound each year to monitor the aorta health. She does not know what can be done to stop the stretching of the aorta muscle. The artery cannot be stitched together it ‘bursts out’.
Paula said that the Marfan Syndrome does not seem to affect lungs. She has good bone density from hard physical labour, or it could be the disease as it is always trying to repair, building new bone she does not know for sure.
She thinks that she has been able to have ‘a normal life’ because the syndrome was not diagnosed when she was a young person.
She has had a hard physical life, lived outdoors and that has given her strength. She initially hurt her back moving harrows when she picked them up by hand. She lost the use of her legs after hurting her back and it has been constantly sore.
Horse riding strengthened her back. She has done a lot of riding. She was an endurance rider. She has done so much with horses. She thinks that the horse riding has helped her feet which are OK.
With the diagnosis of Marfan she has had to give up horse riding. The ‘bouncing’ of riding damages her insides and ‘pulled it apart’. She says that giving up horse riding was the hardest thing that she has ever done in her life. It was very tough.
The diagnosis hasn’t changed her life other than given her a great feeling of relief that all the problems were not imagined but real, and that all the things that have gone wrong with her [over the years] have been connected for a reason – Marfan.
It has made her a writer as she cannot do anything else. Writing has become the focus – it is now time for writing.
Life is restricted although eating is not a problem she has had to give up drinking because it caused Pancras attacks She also had to give up coffee but not chocolate. She thinks that maybe it is not as strong as coffee.
She used to have a fear of heights but didn’t feel sea sick. The nerve or guts tearing caused these feelings and when it was repaired it went away.
Her travel movements are limited. She cannot travel more than 4 hours maximum a day. She has to sit with her legs ‘out back’. So, she says, she ‘don’t travel, don’t drink, don’t go out’
She lives on a farm of 500 acres. She could stay where she is but if something happened to husband she would have to leave as he does everything. She gets tired.
Her physical activity is walking through bush, and this also stimulates her writing. She uses walking poles because she is worried that if she falls over she will hurt too much.
The degeneration of her joints may cause her to stop walking and she is worried that she will not have any stimulation for writing. She wants to swim for exercise as she can use only arms and legs as there is no core strength.
When she is driving she has the steering wheel to hold onto, she is in control of the car’s movements and she drives to conditions. But as passenger, the car movement causes nerve system injury and jars her. It causes discomfort.
Overall, she says, she has had a good life. Paula Boer’s connective tissue may be coming apart but her writing and her book are going from strength to strength.
[1] http://www.marfan.org/about/marfan
[2] http://www.merckmanuals.com/home/digestive-disorders/biology-of-the-digestive-system/throat-and-esophagus