Have you experienced itching and swelling in the mouth and throat before flushing, feeling hot and sweaty?

I have felt itching in my throught...no noticeable swelling but definately a kind "soreness?" in my mouth (I get a stinging sensation on my pallette and tongue).

Are you experiencing all of this within an hour of eating citrus fruit?

Up to almost 10 min's after

Do the symptoms occur even when you take small amounts of citrus fruit or you can go well without problems with certain amounts?
Have you noticed that some vegetables or packed and prepared foods are causing the same?

The smallest amount of citrus brings it on. As of late, I have started to avoid crisps alltogether...one because citric-acid is used in most to create a "sour" taste and some other additives also causes the irretation (Usually the addatives starting with "E0???"). One sip of orange juice can cause it, three or four crisps can cause it, one bite from a pine-apple would cause it. A lot of soft-drinks I also have problems with.

I mostly only eat raw vegetables as I can't stomach the texture of cooked vegetables.... I have found that green beans (or is it string beans) causes light itching but I think that is only because I eat it raw and it still has a bit of "fuzz" on them.

I think you are suffering from citric acid intolerance (different from allergy)
Have you experienced painful excess wind (gas), bloating, stomach cramps and diarrhea when consuming citrus food?
Or some skin rashes?

Gas, bloating and stomach cramps yes, however, this might be due to me recently being diagnosed with Marfans Syndrom and as a result, I have a diaphragmatic hernia (Which I also did not know about).

I don't think gas, bloating and stomach cramps are due to Marfans syndrome.
I think these symptoms are symptoms of citric acid intolerance (the body lacks some chemical or enzyme necessary for properly digest a particular substance, in this case, citric acid)
When there is a citric acid allergy, sufferers respond to substances specific to citrus fruits such as limonene or specific proteins found in the fruits, whereas citric acid intolerant people react only to citric acid, which is found in a number of fruits and even some vegetables, and is used as a food additive.
Body intolerance to citric acid can result in damage of the lining of the gut and impair digestion, thus, predisposing the sufferer to acquire true allergies.

Which medical issue was the reason to be diagnosed with Marfans syndrome?
Heart problems or vision disturbances?

The issue was more muscular/skeletal

I am quite nervous still though with this diagnosis as there is so many "indicators" and so many other connective-tissue disorders...But I need to start trusting one of these doctors and it's better to spend the money monitoring my cardio- rather than finding out that I have a problem when it's allready too late...

What happened was that a week ago, I had severe pain in my left wrist, elbow and shoulder, radiating throughout my arm. It was so bad that I went to a clinic close to work as I could not do the hour drive home in that state.

The doctor identified it as inflammation and also attributed another wrist problem I have been having since last year August, to "loss of cartlidge" between my wrist joints.

If I remember correctly, what led him to the diagnosis of Marfans was:

Skeletal:

Dispreportionate arm span
Raised pallette
Flat feet
Long slender limbs
Tall stature
Arachnodactylity
(Thumb protrudes when making a fist and pinky overlapse when holding opposite wrist)
Double Jointedness and/or Hypermobility
(Also able to bend my thumb back further than I should be able to)
Lax ligaments
(With a history of knee dislocations and other joints showing signs of being predisposed to dislocation as well as the identified loss of cartlidge in my wrist)
History of chronic inflammation of the major joints.
Protruding Rib-Cage abnormality on left side.
(Not necissarily Pectus but is connective tissue related).

Vision:

Impaired vision
Oval/Flat shaped (Cornia/Retina? Can't remember which)
(I am not able to wear contacts)
Visual Disturbance attributable to migraine's
(From time to time)

Cardiovascular:

Seeing a cardiologist on Thursday to check and monitor for Mitral-valve prolapse and Aortic-disection.

Other:

Diaphragmatic Hernia

Apparently, even though at this point, I lack the Cardiovascular indicators of the syndrome, the extent of the muscular/skeletal difficulties and signs that I have, is enough to support a finding of connective tissue disorder and at the least "Emergent Marfans".

Two doctors in the past has pointed to the possibility of Marfans but never confirmed. This doctor seemed very adiment and also has several other cases that he is treating.

Hi...just thaught I'd let you know that the Cardiologist confirmed the Marfan-DX...I have mitril-valve-prolapse, mitril-valve-regurgetation and obviously a risk of aortic-dissection...

Marfan's syndrome is disorder of connective tissue, which is found in all organs of the body and the manifestations of the Marfan syndrome can appear in many parts of the body, but, the most affected are bones and ligaments.
Usually, at least three body systems must be affected before a diagnosis is made.
You have very suggestive physical appearance for this condition.

What have you been suggested from your cardiologist?
How old are you?
Do you have family history of Marfan's?

That's what makes this disorder so frustrating...no one could actually give me a definitive answer untill the cardio gave his report...

I'm 28, turning 29 this year.

Most of my family on my dad's side is tall and slender but none have been diagnosed. My sister has hammer-toes, flat-feet, above-average IQ and also oval cornia's but otherwise she is much more "structurally-sound" than what I am. My one cousin in the US is a full head taller than me and his daughter most definately shows signs such as "arachnodactylity", eating difficulties etc... I am hoping to get in contact with them to get her checked out just to be on the safe-side. She is only 7 y/o and if she doesn't have it then it's excellent news but if she has, it would be better for her to stay away from sports from the youngest age possible...

Also, the Cardiologist seemed to draw a connection between the Marfan's and our German descent?

I have been put on Beta-Blockers to reduce the stress on my Aorta and will have to see him again in six-months time. He will only then be able to assess the rate of the Aortic-dialation. Worste case, they would rather operate to replace my heart-valves rather than my Aorta, but more than likely, it just means a visit to the cardio every 6 months or so and staying on the Beta-Blockers.

He also informed me that I should avoid picking up anything heavier than 10kg at all costs and also suggested getting a Medic-Alert bracelet, which I have applied for.

The difficulty with this disorder is also the fact that most of the problems I have, is rather "non-threatening" and "unimportant" in other "healthy" people, but due to the combination and the stacking of problems, it is more serious. Even mitril-valve prolapsed is seen as a minor problem in healthy people.

It seems that regular checkups and echocardiograms will be most important for your health and wellbeing. That way, your cardiologist will get the best picture of your heart functioning. The earlier a potential problem is identified and treated, the lower the risk of life-threatening complications. Please, keep it in mind, that if you start experiencing chest, back, or abdominal pain, go to the emergency room immediately.
Do you have some kinds of sleep problems?
Do you smoke cigarettes?

I can only guess how frustrating is to be diagnosed with a lifelong, genetic disorder, which can cause social, emotional, and financial stress and often requiring a great deal of adjustment in outlook and lifestyle.
Although, this brings "the stacking of problems", with early diagnosis and appropriate management, the life expectancy for someone with Marfan syndrome is similar to that of the average person.

Best wishes!
Marija

I am keeping an eye on my chest-pains. The difficult part is that I do suffer from BP II with anxiety...I am starting to wonder about the connection between the two. Even tho I was diagnosed BP II before Marfans, the major factors in my diagnosis is General anxiety, Social Anxiety and OCD.

Also, I don't know weather the sleep problems is related to the MFS and/or BPII but yes, I do struggle to fall asleep (Racing thaughts) and when I do fall asleep, I struggle to wake up. It's also becoming more frequent that I get "Stuck" in my dreams when waking up. It sometimes takes me up to 5 min's to persuade my mind that it was a dream and that I have woken up. I have also found, from working late hours, that my concentration goes up after 1/2 am...but obviously, by that time my body is screaming for sleep. I never get the kind of "clarity" during the day that I get when working late.

Sadly, I do smoke...and it seems like I will just have to jack-up my willpower to stop, as Zyban will interfere with my other med's.

I have read that exact thing...people with managed Marfan's has a normal life-expectancy wherea's un-diagnosed it is as low as 30, mainly due to unexpected cardiac-arrest from aortic-dissection.

Thanks for the help and support

Seraph

You are welcome!
It is especially important for you to quite smoking. People with Marfan syndrome is best not to smoke, as they already have increased risk for lung damage.
Some people with the Marfan syndrome have been found to have sleep disordered breathing, snoring and sleep apnea.
You need to be aware of possible risk of spontaneous pneumothorax (emergency situation occurring suddenly even during rest or sleep, which symptoms are abnormal breathing movements, cough, shortness of breath, sudden chest pain or chest tightness) and retinal detachment.
Have you noticed some spots floating loosely in your eye or sensation of flashing lights as the eye is moved?

I don't know if what I experience is the same as what you are talking about but...

I do tend to get almost like "water spots" floating in a fixed position...if I, for instance, move my eye up, the floating part would move up with my eye and then gradually seem to float back to a specific point. Almost like there is a film like coating over my eye with permanent scratches on it.

As for the lights...I see spots but mostly from light sources in my environment. My eye's are quite sensitive in that respect, making it abit difficult to drive at night. When I was in college, one of my lecturers accused me of being high, because my pupils were always dialated and this might be why my eyes are so sensitive to light. I have tried talking to an optomotrist about it, but they never seem to see anything wrong with my eye's reactions/reflexes.

The other form of lights is more associable with migraines and/or dural ectasia. I get this "worm" of rotating colours moving/growing across my field of vision untill IT finally causes me to get a headache and get nausia...I never really get the head-ache part of the migraine per say.

I have heard spontaneous pneumothorax to be likened to suffering from a collapsed lung...My dad fell off of the back of a "casper" when he was in the army and had his lungs collapse...but I think it's more like a coincedence as he doesn't show any other signs.

I am chewing on wafer sticks while I attempt to bring down my smoking quota, which is hard seeing as we are sitting with a crisis at work...which is also not good in terms of stress. Software development was not the wisest of choices...and if I had known earlier on, I would most definately have chosen a different profession.

I know I can't blame them, but if the doctors would just have noticed earlier...or my parents just listined to me instead of thinking I am being lazy and/or over-reacting...but at any rate *sigh* no use in crying over spilt milk.

The sleep apnea/snoring is quite logical...seeing as one's ligaments/connective tissue is more lax than other people's and snoring is basically your air-way collapsing on it self. I don't think I have any sleep disorder in that respect tho...my problem is falling asleep and waking up...I sleep quite soundly otherwise.

There is quite a lot of things that "can" and "might" go wrong with this disorder...I will just have to be aware of my body and tackle the problems as they come up.

Annual ophthalmic examinations are very important for Marfan's sufferers.
High refractive error, flattened corneal curvature, dislocated lenses (65-80 % of patients, symptoms of lens dislocation are nearsightedness, astigmatism-blurred vision, and, fluctuating or blurred vision), early onset cataracts, glaucoma, retinal detachment and strabismus are possible eye problems.
When have you been to ophthalmologist last time?

A spontaneous pneumothorax occurs in the absence of a traumatic injury to the chest.
Smoking has been shown to increase the risk for spontaneous pneumothorax.
People with lung disorders are also subject to spontaneous pneumothorax and then the spontaneous pneunmothorax is know as secondary. Emphysema is one of the lung conditions found as a possible cause for pneumothorax (emphysema, which results from loss of alveolar walls-defect of elastin and enlargement of the air spaces, causes airway obstruction and inflammation. Approximately 10-15 percent of people with the Marfan syndrome have emphysema, but it is probably under-diagnosed. It is the structural predisposition of the lungs in people with the Marfan syndrome that is probably to blame)
Do you usually experience shortness of breath during activity?
Are suffering from frequent bronchitis?

I didn't pay much attention to your sleeping problem in my previous posts.
You said that you are struggling to fall asleep.
Do you usually cannot get to sleep for at least two hours after you've started trying to go to sleep at night?
Is this usually happening when you try to fall asleep earlier at more "normal" bedtime?
Do you tend to fall asleep at nearly the same time each night/morning no matter what time you go to bed?
Are you catching up on the lack of sleep at weekends, sleeping around 9-12 hours?

Are you stressing over your work?
I though soft developer is the most required and payed profession nowadays.
Come to Macedonia, we need people like you.

Thinking of you!
Best wishes!
Marija

Hi There

It's been a while since I replied...as I had quite a mojor event...AGAIN...

I started having massive pains in my right-side, so bad that I went to the E.R. They did an MRI and booked me into hospital with a kidney-stone. The urologist came to see me and told me it's a very small stone, barely 1 mm and that it would pass within the next day. When the next day came, he told me that they had taken another look and the stone was in actual fact 5.8 mm!!!

So, seeing as I only had a 30% chance of passing the stone, they pushed me into theatre and broke it up using a laser...all went fine and stuff, untill they pulled the resperator from my throught. I couldn't breath on my own and my heart-rate was off the charts causing chest pains. All that I could do is gesture frantically to the nurses and then grab on to the first available hand till they had things sorted and seeing as I could not remember this happening, I most prob lost conciousness at that point. When they eventually got my lungs to "wake up", I was placed in I.C.U. for three days as a cardiac-risk.

The only explanation the cardiologist could offer was that my lungs either did not wake up timeously or was too weak to start-up on their own.

It's been more than a week and I need to go back tomorrow to have a "stent" removed from my right urethra. My throught and mouth is RAW and from time to time I get this nasty feeling again like my throught wants to collapse in on itself. I am not to sure wether it was anything like pneumothraxis...I am starting to wonder wether they hadn't inadvertantly damaged my throught.

They new all of my complications before hand as I made doubly sure to tell the admitting nurses, the urologist and the anesthaesiologist about my health-problems, yet when the * struck the fan, none of them knew what was going on.

Non the less, they pulled me through it and I am very gratefull for that...I just NEVER want to go through that experience ever again...it's no fun not being able to breath...it's the second time this year that I have been inches away from death.

I don't know what they are going to do next time I need to be aneasthetised...I just know that they can't incubate...

As for your other questions

1. I had gotten new glasses earlier this year but I still want to make an appntment with an opthalmologist as I got the prescription from a normal optomotrist.
2. I do struggle with shortness of breath during activity and as a kid had a rough time during gym-class as I couldn't run/be as active as the other kids.
3. I don't suffer from frequent bronchitis.
4. Yep...I usually lie awake for a couple of hours befor I go to sleep.
5. Yes, it usually happens when I try to fall asleep earlier than usual.
6. Yes, I tend to fall asleep nearly at the same time each night/morning
7. Yes, I do tend to catch-up on sleep over weekends.

Hehe...dev is the best paid profession...but also the most stressfull. In my case, this is especially true due to my OCD (Obsessive Compulsive). It is starting to become a real problem again. It settled down a bit for the last couple of weeks after my shrink upped my dosage from 20 to 60 mg Fluoxitine...but she said it might be necissary to up it to 80 mg before any noticible change occurs. I either need to get rid of my OCD, face serious problems at work and even risk being fired, find a more "peacefull" profession, become self employed or somehow get medically boarded (Which might not be as far fetched as my health is impacting on my productivity).

But, otherwise I am not doing too badly. My car is finally at a Mazda approved panel-beater so they should start working on it soon, my Bio-kineticist is overjoyed at the prospect of having to ammend my exercise routine yet again and I now have a urologist to add to my growing list of medical contacts

Thank you for the thaughts and wishes!
It's most appreciated as well as needed

Seraph