Why Me?

Note: I will be posting in Taglish (Tagalog-English) because I really want to pour my emotions out.

Kahit na puno ng positivity ang last post ko, at puno ng hope ang bawat tulang sinulat ko, aaminin ko, mas madami ang depression moments ko mula nang malaman kong may aneurysm ako. First, andun yung takot ko noon, takot na hindi ko malalampasan yung operasyon, takot na yun na ang katapusan. Ang dami kong luhang iniiyak, kasi hindi pa ako handa. Hindi ako handang iwanan ang mga mahal ko sa buhay. Aaminin ko, ilang beses, at hanggang ngayon, paulit ulit kong tinatanong, "bakit ako?". Why me, of all people in the world. I know I am not the nicest person on earth, pero hindi din naman siguro ako ang pinakamakasalanan. After nung first operation ko, labas-masok ako sa hospital dahil sa complications, at promise, sumuko na ko. Ayoko na, hirap na hirap na ako sa sakit, sa hindi maipaliwanag ng agham na pinagmumulan ng lahat nung sakit. Okay ang CT-scans, pero laging may masakit. Tatlong araw lang ang itinatagal ko lagi sa bahay, ambulansya na ang naging sasakyan ko, kulang na lang yung hospital address na ang ipalagay ko sa federal ID ko. Itinatanong ko sa asawa ko, bakit ako, kasi baka may maisasagot sya, gaya ng mga panahong inaaral ko ang history ng Germany at ng Europe, may handang sagot sya lagi, pero wala syang naibigay na sagot, at ang sakit para sa aming dalawa. Para sa akin kasi di ko alam anong mangyayari bukas or sa makalawa. Para sa kanya kasi nakikita nya akong walang gana sa kahit anong bagay, laging depressed, laging nasa kwarto, tulala sa kisame. Hinahatak nya ako laging maglakad lakad, para may iba akong maisip, binibili nya lahat ng matripan ko, kesehodang pambata man yun. Andyan yung bumili ng PS4 at kung ano anong laro para maaliw daw ako pag nasa work sya. Kumpleto ko na ang coloring books ni Millie Marrota, yung kay Johanna Basford kulang lang ako ng isa, at kung ano anong coloring books pa ng iba't ibang publishing house, may 19 na ata etong coloring books sa shelf ko. Pag napapadpad kami sa bookstore, minimum 3 books lagi ang bitbit ko pauwi, kahit halos wala akong nababasa sa kanila, napupuno lang yung shelf ko, hindi naman nabubuklat. Pero hindi sya tumitigil, basta daw makakabawas sa depression ko, hindi sya magdadalawang isip bilihin. I am the luckiest girl alive kung asawa ang pagbabasehan. He is always there at my side, and takes really good care of me. Pero may araw talaga na feeling ko ako na ang pinakamalas na tao sa mundo. Ang sakit talaga tanggapin na ako ang may karamdaman na ganito. But ano pa nga ba magagawa ko? Embryo pa lang ako andito na sya, sooner or later talagang lalabas at lalabas ang symptoms. All I can do is to accept my fate, fight the negative thoughts and try to look forward. Ang hirap, pero kelangan kong gawin. Nagpaplano ako for days ahead of me, months, even years, kahit na walang kasiguruhan kung ilang araw, buwan o taon pa ang nalalabi para sa akin. I continue to write my plans and dreams, because those things makes me feel more optimistic, it gives me a tinge of hope to hold on and continue the fight.

Sabi nga ng kaibigan ko dito, laban lang ng laban, walang sukuan!

Marfan Organizations and Centers

PHILIPPINES:

still searching for Marfan Foundations (comments are highly appreciated!) but you can go to Philippine Heart Center in Quezon City to get checked at an affordable price compared to St. Luke's.

GERMANY:
Marfan Hilfe: www.marfan.de

(the following hospitals and clinics are from the Marfan Hilfe website)

Städt. Krankenhaus Dresden-Neustadt e.V.
Industriestraße 40
01129 Dresden
Telefon: 0351 / 8 56 0
(Kinder u. Jugendliche bis 17 Jahren)

zusammen mit:

Herzzentrum Universität Leipzig
Klinik f. Herzchirurgie
Strumpellstr. 39
04289 Leipzig
Terminvereinbarung: 0341 / 865 - 1421
Sprechstunde: 7.00 - 19.00 Uhr
Ansprechpartner: Prof. Dr. med. F. W. Mohr

Deutsches Herzzentrum Berlin u. Charité
Augustenburger Platz 1
13353 Berlin
Tel.: 030 / 4593 - 2320
Ansprechpartner. Fr. P. Gehle
marfan@dhzb.de

Universitäres Herzzentrum Hamburg GmbH
Kardiologische Zentralambulanz
Gebäude O 70
Martinistraße 52
20246 Hamburg
Terminvereinbarung:
Erwachsene: Tel. 040-74105-3990
Kinder: Tel. 040-74105-2719
Ansprechpartner: Prof. Dr. Yskert v. Kodolitsch,
Dr. Meike Rybczynski, Dr. Sara Sheikhzadeh
Ansprechpartner Kinder: PD Dr. Th. Mir
marfan@uke.de

Universitätsklinikum Schleswig-Holstein
Campus Lübeck
Klinik für Herzchirurgie - Ambulanz
Marfan-Sprechstunde
Ratzeburger Allee 160
23538 Lübeck
Terminvereinbarung Fr. Meyer: 0451 / 500-6331
Ansprechpartner: Prof. Dr. Ulrich Stierle
Herzchirurgie.Ambulanz@uk-sh.de

Universitätsklinik Münster
Albert-Schweitzer Campus 1
Gebäude A1
48149 Münster
Ansprechpartner Kinderkardiologie: Dr. S. Kotthoff
Terminvereinbarung: 0251 / 83-47773
Sprechstunde nach Vereinbarung
Ansprechpartner Klinik für angeborene (EMAH) und
erworbene Herzfehler: Dr. Radke / Fr. Dr. Schmidt
Erwachsenensprechstunde / EMAH-Zentrum
Terminvereinbarung: 0251 / 83-46122
Sprechstunde nach Vereinbarung

Universitätsklinikum Köln
Herzzentrum - Klinik III für Innere Medizin
Kerpener Str. 62
50937 Köln
Terminvereinbarung: Tel: 0221 / 478-32341
Ansprechpartner: Dr. Michael Huntgeburth und
Prof. Dr. S. Rosenkranz

Universitätsklinikum Aachen
Medizinische Klinik I Kardiologie
Pauwelsstr. 30
52074 Aachen
Ansprechpartner: Fr. Dr. K. Brehmer
Terminvereinbarung: 0241 / 8035 832

Universitätskliniken des Saarlandes
Klinik für Pädiatrische Kardiologie
Oskar-Orth-Str. 1
66421 Homburg/Saar
Terminvereinbarung: Tel.: 06841/16-28305,
Fax: 06841/16-28330
Ansprechpartner: Prof. Dr. M. Abdul-Khaliq

Universitätsklinikum Heidelberg
Klinik für Herzchirurgie
Im Neuenheimer Feld 110
69120 Heidelberg
Sekretariat: Fr. Inge Weber
Tel.: 06221-56 6279
inge.weber@med.uni-heidelberg.de
Ansprechpartner: Prof. Dr. Klaus Kallenbach

Klinikum Stuttgart - Katharinenhospital
Zentrum für Herz- u. Gefäßkrankheiten (Erwachsene)
Kriegsbergstr. 60
70174 Stuttgart
Terminvereinbarung: 0711 / 278 - 35202
Sprechstunde: nach Vereinbarung
Ansprechpartnerin: Dr. Elke Roser

zusammen mit:

Klinikum Stuttgart - Olgahospital
Pädiatrisches Zentrum (Kinder)
Bismarckstr. 8
70176 Stuttgart
Terminvereinbarung: 0711 / 278 - 72441
Ansprechpartner: Dr. Frank Uhlemann

Universitätsklinikum Freiburg
Zentrum für Herz- und Gefäßchirurgie
Hugstetter Str. 55
79106 Freiburg im Breisgau
Terminvereinbarung: 0761 / 270 - 77950
Ansprechpartner: Prof. Dr. M. Siepe

Deutsches Herzzentrum München
Lazarettstr. 36
80636 München
Terminvereinbarung. 089 / 1218 - 3006
Ansprechpartner Prof. Dr. Kaemmerer

WORLDWIDE:
Marfan Organization: www.marfan.org

Me and Marfan Syndrome

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.