First of all, I wanted you to understand what is Marfan syndrome. I would just like to quote completely the definition from Marfan Organisation website:
Marfan syndrome is a genetic disorder that affects our body's connective tissues. 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.
Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
Physically, one can detect a Marfanoid through the following signs:
- Long arms, legs and fingers
- Tall and thin body type
- Curved spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain or loss
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
(Source: www.marfan.org/about/signs)
And yes, I have most signs in me. I am taller than common Filipinas, even way back my childhood. I was 2 years old when they found out I have a heart problem, one of my ventricles does not function well, but I was 13 years of age when they said my heart is again fine. I was 9 years old when my mom found the unusual curvature of my spine and had to wear orthopaedic braces until I was 16 years of age, but the scoliosis is sadly not corrected. As I came here in Germany, my scoliosis gave me difficult days, especially in winter, that led us to have it check and eventually get operated. I was operated last April 2014 from the upper part down to the lower part of my spine. I sometimes call myself a robot, because I could no longer turn just half of my body, if I have to check what's behind me or at the side, I have to turn my whole body around. I did have crowded teeth too, which was corrected by wearing braces as well, I had my braces removed though before my marriage, and now, they are starting to get crowded again. My husband finds it "amusing" too that I can bend my thumb backwards, until we got the gene test result and found this no longer amusing.
What led us to learning about Marfan syndrome was a devastating event in our lives. June 19, 2015, I was attending the university here in Germany, and I thought the pain one day was only caused by my whole day classes and the books I borrowed from the library, and I thought it was just one of those typical pain due to my scoliosis operation, because it was just a year and 2 months after the operation, and the regrowth of bone could have caused it. I logged out of my Skype session with my mom and laid in bed. Weekend went by with the same level of pain, that my husband had to do the grocery alone. I even cried and said I don't want to die, yet. That was the cue for my husband that the pain was unbearable. He told me not to go to the university next day, June 22, and we have to visit our general practitioner. Our GP gave us immediate advice to go to the hospital, but since I was still on my pyjamas and doesn't have any clothing nor toiletries ready, we went back home. I was admitted the next day, they did X-ray because they also thought of my scoliosis first and foremost. June 24 came the head doctor of internal medicine. She asked me where the pain starts and up to where it radiates. She asked me to have pregnancy test as well, because it could also be heart burn, but it went negative. She checked the X-ray once again and there, she started to get suspicious.
"Mrs. W, could it be that you have Marfan syndrome?"
"What is it? I don't know about it."
"Can you please bend your fingers, try to reach your wrist. How tall are your parents?"
I did what she said and told her the estimated height of my parents, being smaller than I am.
"Please go back to the ultrasound room, I will be there with you in a minute, I just need to show this to my boss."
I went down, and also the same time my husband came. She came to me and told me she has to do the ultrasound of my stomach, since the 2D-echo showed a normal heart, they did saw something unusual in the X-ray photo. And there it was. She called the head doctor of cardiology.
"What is it, Dr. Binder?"
"Let's wait for Dr. Weiss."
Dr. Weiss came and had it measured.
"6 cm. Call the CT-Scan section and get her first in."
Dr. Binder asked me to wait for a while at the waiting room while she gets needle to prepare me for CT-scan. My husband asked her what is going on.
"We found a dissection at her aorta, or what you call aneurysm and it is 6cm in diameter. We have to check via CT how long the dissection is."
"Is it really serious?" My husband said.
"If it gets hectic, then it is serious."
She accompanied us until CT. After my CT, the nurse said Dr. Binder adviced that we wait at the waiting room again, while she and Dr. Weiss and the chief doctor review everything. And then came the head nurse of the station I am in... with my bed.
"Mrs. W., please lie down, you are no longer allowed to move too much and also nothing to eat. We will transfer you to the intensive station."
All I can remember were the eyes from other patients in the waiting room, and me crying and my husband in panic, in panic that he even forgot my toiletries in the toilet when he picked up my stuff from the room I was in. All doctors and nurses were on telephone, searching the next big hospital who can accomodate me and do the surgery. They gave me valium to appease me. I was allowed only one more glass of water and then that's it, my food was only the infusion. Out of 3 hospitals with specialists in vascular diseases, only one had the capacity and the way is not easy (it is not advisable for me to move out of fear that my aorta would explode), so they decided to get a helicopter instead. I was transferred to Bad Neustadt an der Saale heart center on June 26 morning. In the afternoon, 6 doctors were on my bed side, the chief doctor, the head doctor at the station, the head surgeon, their assistants and the anesthesiologist. There was no time to explain thoroughly the procedure, no time to explain the side effects of the narcotics, we were in a difficult battle against time. The only deciding factor that helped me to sign the waiver were the words of the head surgeon: there's no time, you could be dead if we delay this operation. That was all I can remember on that day. I woke up vomiting from narcotics at around 10 in the evening. The assistant surgeon was still there, on telephone with my husband. He saw me woke up and just told me one sentence before he came back to my husband on the phone: the operation was a success. You are now out of danger.
That was the time we decided, I really need to get a gene test, to know what this really is. If it is really Marfan, or any other fibrillin mutation. But due to complications and another operation done to me (from June to December last year, I was only 1 month or 2 at home, 3 hospitals became my home), I had my gene test just early this year. Just today, we were again at my geneticist and we have the result of the gene test... And yes, I am a Marfanoid. And yes, I do have the other fibrillin mutation as well. This double mutation makes it more complicated for me, especially for my cardiovascular system.
Let me leave you this advice for today: If you have the physical signs, get checked. Heart is not just any organ, when it malfunctions, it is life-threatening. Do not wait for the day that you have to go through the same devastating event I had. Let’s start a healthy living. Marfanoids can live up to old age, if you will be detected earlier and take better care of your heart.
(original title: Secret Garden) coloring book.
