tall,thin stature with disproportionately long arms
unusally long lower half of body
long, double-jointed fingers, including an elongated thumb
curvature of the spine
chest bone that curves either inward or outward
backward curves either inward or outward
flat feet
backward curve of the legs at the knee
nearsightedness (lenses of the eye are prone to dislocation)
MARFAN'S SYNDROME
The Marfan's syndrome is a heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The Marfan syndrome affects both men and women of any race or ethnic group.
MY REACTION TO MARFAN'S SYNDROME
My reaction to Marfan's syndrome, was a bad one. There were a lot of things I never knew about Marfan's. The do's and the don'ts and yet I never heard of Marfans syndrome. I remember when I went to my local GP, who confirmed this Marfan's syndrome, she had to use the medical files on the Internet to look up Marfans because she didn’t know what it was. When I got home that night I searched every web page there was and read peoples personal experiences. Some of the stories broke my heart.
But some of the things were not to smoke, not allowed to drink coca-cola, not allowed to do certain types of sports, especially around the head area. One blow and you could die. The main issue was, that after 30 years old you aren't allowed to have any more children as you the unborn baby could die during childbirth. This made me even madder because it was heredity and my 2 children could get it. They have to be tested for it. I am so pissed off about that, my children will probably suffer now. But I haven't had any major surgery relating to Marfan's Syndrome, I guess I am one of the lucky ones.
Tuesday 7th August 2001 :
Yesterday I received a letter about Tristan’s appointment last week for his heart murmur at the Royal Children’s Hospital.
I would like to share it with you all.
Dear Kathryn,
I am writing to summarise our discussion in the Genetics Clinic following your visit with Tristan.
Dr. T referred Tristan to discuss whether he might have the same genetic condition as you, Marfan syndrome, as he was recently found to have a heart murmur. As you have Marfan’s Syndrome you have 1 in 2 chance of passing the condition on to your children.
When we examined Tristan he does not have any features of Marfan syndrome. About 5% of boys of Tristan’s age have an extra heart sound (a murmur) and the large majority of these are innocent. For reassurance I will ask Dr T, to organise an echocardiogram for Tristan to look at the structure of his heart.
We did not have time to discuss Marfan syndrome in you but it would be important that you are under regular review if you are not already. Genetic Health holds a clinic for Adult patients with Marfan’s syndrome at the Alfred Hospital. If you do not already attend the clinic, I would suggest the Dr T refer you. I enclose a leaflet giving you the details.
As you also have Cystic fibrosis we took blood for gene testing. Although your sweat test is apparently positive confirming the diagnosis of CF, your gene testing is negative. This suggests that you carry CF gene changes that we are not able to test for at present. I am sending a copy of this letter to Dr R.
I have not arranged to see Tristan in this clinic again but we would he happy to see your family in the future.
Your sincerely.
Honestly, doesn’t this suck, If the Dr’s told me there was a clinic that deals with Marfan’s Syndrome at the Alfred, I could’ve had 2 appointments on the same day for CF and Marfan’s. But no, the local Dr. told me that there are only 3 hospitals in Australia that deal with Marfan’s. Victoria wasn’t the state that was nominated. Now I find out the Alfred Hospital has one. So all this time my lungs could’ve been looked at probably and treated for correctly IF it's Marfan’s related instead of CF. All this waste, bullshit, it makes me so mad. So now I have to wait another 5 weeks for the DNA test to come back.
Saturday 20th October 2001 :
Since Last Thursday has been the worst. I am in pain when I sneeze, cough or breath. Coughing is a hassle, I sleep on 3 pillows upright, and when I cough my guts up, I have to hold in my rib cage so they don’t break. I know I will get a breakage, as my back is starting to hurt a lot. Especially when driving a car for 10 mins. There is also a lump forming in the sore spot on the left hand side, I have no idea what the hell that lump is. The local GP on Thursday said that there is no air getting into my left lower lung. She prescribed the same tablets, Ceclor, which are used for my chest infections. I can’t see how these little tablets will help me get air into my lung. I have never had a collapsed lung before, and I am particularly worried about this. In desperation I went to the chemist to get the strong painkillers, and they are the crappiest things. It doesn’t even relieve the pain.
I also take a nebuliser twice a day, to help my lungs out. They don’t seem to be doing much, every time I use it my nose leaks. I haven’t had a good night sleep in days. Someone have one for me, and make sure you sleep in!
Thursday 22nd November 2001:
Well my FIRST Marfan’s appointment is next Monday, after finding out recently that there is a clinic in Melbourne that does it. I received a letter from them today.......
Dear Madam/Sir
We would like to remind you of the following appointments(s):
Dr A.A in Marfan’s Syndrome clinic on Monday, 03 December 2001 at 12:00pm.
Should you wish to make any changes please contact us on telephone number -----
We do not have a current referral. You must get a new referral from your general practioner BEFORE you attend this appointment or ring us for clarification.
Yours faithfully.
Funny how you need a referral for everything these days. It would be too easy these days just to have one for all. Got my referral, from my local GP and I tell ya what she wasn’t too happy about writing another referral for me. She’s written heaps for me over the past 2 years. But hey I got it.
Monday 3rd December 2001:
I had my Marfan’s appointment today, and what a complete waste of time. The appointment was for 2pm instead I got seen to at 2.30pm. Word of advice, when having an appointment bring in your own reading material cos the magazines is 5 years old, and is shit to read. For example, one magazine contained Yachts, Why would I read about boats when I hate the water??
The Dr came in later after the two medical students gave me 20 questions and checked me out. The male student, checked my feet, which weren’t flat, checked my spine, which was curved, listen to me breath, got me to bend my thumb and fingers back. Thumbs no problem, fingers were a tad stiff. LoL. He measured my arm span with a tape measure. He went out. The other female medical student and I were chatting, when I asked her if there was any support groups available, she said she’ll send them out. The male student came back with Dr A.A (female) she asked me about my heart, and I told her that the results were 100%, nothing wrong with my heart, just my lungs.
They burst my bubble saying that even though my heart is 100% now, in a few months it might detiorate and I need to have a regular Echocardiogram. Regular, meaning often, my next echo is in Dec 2002. Go Figure!
They organised a blood test, and also an eye test. The blood test went fine, another horse needle, nearly jumped thru the roof. After the needle, I had to go to the 4th floor and get my eyes tested. With no appointment I was made to wait 1 hr, the receptionist said that they squeeze in Marfan’s patients with other patients. After an hr. I told her I am not waiting any longer, as its already been an hr with NO MAGAZINES, boredom sets in after awhile, and ya eyes gets heavy…I will get my eyes done in Sunshine by an optometrist who will sent you the relevant information, she looked at me strangely. Fuck ‘em. My time is just as valuable as there is. There was 30 people waiting without an appointment and they were gonna squeeze me in, where? Patience isn’t one of my virtuses, longer than an hr, really pisses me off. The blood test should take about the usual 6 weeks period. What fun!
Tuesday 4th December 2001:
The PAIN is unbearable, I have pleurisy and every time I breathe in, laugh, sneeze or cough it hurts like hell. My local GP gave me a prescription for Aspirin, so it will help it to clear up. It is doesn’t subside in 10 days, I have to go back in case it turns into pneumonia. Isn’t this strange that when the Medical student was looking at my lungs with his stethoscope he never picked it up. A he is learning to be a Doctor…God help us!
The definition of Pleurisy is : Pleurisy, inflammation of the pleura membrane that lines the chest cavity and contains the lung. Most cases are caused by infection, and many are associated with pneumonia in the underlying lung. Some cases are caused by viral infections. Occasionally pleurisy may occur in other diseases such as tuberculosis, systemic lupus erythematosus, rheumatic fever, and kidney failure. Pleurisy may develop in conjunction with a blood clot on the lung; it may also be associated with the development of fluid in the pleural space between the chest wall and the lung.
The characteristic symptom of pleurisy is sharp pain brought on by breathing and coughing. The patient breathes shallowly. If considerable fluid accumulates, the pain may subside, but the underlying lung may be compressed by the fluid and the patient may feel short of breath. On examination the doctor can occasionally hear the inflamed surfaces of the pleura rubbing together and producing a rough sound. Treatment of pleurisy attempts to cure the underlying disease causing it. The pain is controlled with analgesic drugs.
Sunday 6th January 2002:
Sorry I haven’t updated my page in awhile, but I moved to a different location (B4 Xmas), and the time the phone company got around to putting in another line for my computer, I installed everything 2 days ago, and my computer blew up. Believe me I had a good sulk over it. At the moment I am using another computer.
I received a letter from the Marfan’s clinic, which I am totally in disbelief over. I’ll tell you’s why after you have read the letter.
Dear Kathryn
I write to your following our recent meeting in the Marfan Syndrome Clinic at the Alfred hospital where I saw you in conjunction with Dr. AA.
You were referred to see us as the diagnosis of Marfan’s syndrome has been made in you in the past.
After examining you and taking your history, although you have some features suggestive of this condition it is not possible to make this diagnosis definitely in you at this stage. Marfan Syndrome is a condition described by Dr Marfan and people with this syndrome are tall and thin as well as having problems with their heart and their eyes.
The echocardiogram you had in December last year did not show any specific features to suggest this diagnosis and at this stage the diagnosis is at the best tentative.
The blood tests and the eye review that you had will be reviewed by us and we would like to see you again in a year’s time to review your progress.
With kind regards.
So in 2 years when the first dignosis was made about me having marfan's, they turned me into a nervous wreck, and now i may not have it as my heart is fine. I have some of the other symptoms relating to Marfan's, but thats it.End of Story, instead of 2 diseases affecting the same organ, giving me a double death sentence, I now have one definate, and one "maybe". Well thanks to the Dr's at the hospitals.
Monday 3rd June 2002:
My Marfan’s hasn’t given me any more major trouble; I only get headaches and sore legs at times. My next Echocardiogram for my heart is on the 2nd December 2002.
Monday 2nd December 2002:
Well I managed to double book myself for my Marfans appointment. Instead I took my son to my father’s work place at the RAAF base, with other members from my family. My next appointment is on the 7th July, 2 days before my 34th birthday. The receptionist asked me to forgive her, for the 6months wait, I told her not to worry as the last appointment I had to wait 12 months for it. Not to worry. I know I should have went, but I wanted to spend time with my son, and that was more important.
Monday 7th July 2003:
My appointment was at 10.am and surprising I was seen at 10.10am. The Dr examined my knee joints, as at times they get stiff and lock up, it is quite painful, he didn’t find anything odd. As I had to bend my knees.
The male Dr, also told me I needed an echocardiogram done, so after he examined me, I made another appointment for an echo to be done at midday. It was to see if any changes were made on my aorta and valve.
Towards the end of the echocardiogram, Dr AA, came in looked at the results, and told me that since my heart is still 100%, I am not anymore classed as a marfans. I am just a regular, tall, bony gal. Dr AA, also told me that the other specialist are more concerned with my Cystic Fibrosis, and will be concentrating and focusing more on that now.
She also stated that if my children, such as Jasmine, who may already have marfans, it wont come from me.
** Will keep you’s all posted. Thank you for your support and emails.**
DISCLAIMER: None of the data or information mentioned or contained in this site is intended to be used or construed as a substitute for professional medical care and advice by your health practitioner. The author assumes no responsibility for readers use of the material and opinions expressed.
