Eineiige FA-Zwillinge -
und doch ganz verschieden

Der Beginn des folgenden Berichts einer erwachsenen FA-Patientin aus den USA ist
in der Dezember-Ausgabe 2012 von "Projekt Hoffnung" erschienen. In Kürze wird an dieser
Stelle die komplette Übersetzung des insgesamt sechs DIN-A4-Seiten umfassenden Berichts nachzulesen sein.



Mein Name ist Kari Doctor. Meine Schwester Alissa und ich sind eineiige Zwillinge. Direkt nach unserer Geburt vor 35 Jahren kamen wir beide in den Inkubator. Ich war blau angelaufen und atmete nicht. Während ich 2.600 Gramm wog, brachte Alissa nur 1700 Gramm auf die Waage. Die Ärzte informierten unsere Eltern, dass meine Schwester ohne Daumen und mit einem verkürzten linken Arm geboren wurde.

Als wir 3 Monate alt waren, wurde die Diagnose Fanconi-Anämie gestellt. Meine Eltern wurden informiert, dass die Krankheit in den meisten Fällen frühzeitig zu Knochenmarkversagen führt und dass wir wahrscheinlich kaum älter als 10 Jahre würden. Mit 15 Monaten erhielt ich eine Nieren-OP. Doch es gab Komplikationen, sodass mir eine Niere entfernt werden musste. Alissa wurde über die Jahre mehrfach an den Daumen und ihrem linken Arm operiert. Durch die Korrekturen hat sie eine erstaunliche Fingerfertigkeit erlangt. Sie liebt es heute sehr, zu häkeln, Schmuck zu basteln oder Patchworkdecken zu nähen.

Kari Doctor (links) mit ihrer Zwillingsschwester Alissa O‘Toole
während des 5-tägigen Camp-Sunshine-Treffens 2011 in der
Nähe von Portland / Maine.

Als die Ärzte bei uns im Alter von 13 feststellten, dass wir im Blut unsere für die FA typische Chromosomenbrüchigkeit verloren hatten, brauchten wir nicht mehr regelmäßig zum Blutwertetest. Bei keiner von uns wurden bis zu diesem Zeitpunkt (und auch später nicht) jemals niedrige Blutwerte festgestellt. Uns wurde mitgeteilt, dass wir auf nicht näher erklärbare Weise geheilt seien. Zu diesem Zeitpunkt war uns noch nicht bewusst, welche anderen schwer- wiegenden Probleme auf FA-Patienten warten können, wenn sie älter werden.

So wuchsen wir relativ unbeschwert auf und planten unser Leben wie andere junge Leute auch. Alissa hat ein großes Einfühlungsvermögen zu Kindern und hat so eine Ausbildung im Bereich Frühkindliche Erziehung gemacht. Inzwischen hat sie schon seit 18 Jahren mit Kindern gearbeitet und zwischendurch auch ein 3-monatiges Praktikum in einer Mission in Mexiko für schwerbehinderte Kinder abgeleistet.

Während meiner Zeit im Gymnasium habe ich mich besonders für Sport interessiert. Nach dem Abitur studierte ich Grafikdesign an einer öffentlichen Schule in Colorado und übernahm nach dem Abschluss eine Stelle bei Copy Max. Später machte ich mich dann selbstständig. So lebten Alissa und ich beide ein glückliches Leben trotz der Tatsache, dass uns früher erzählt wurde, dass wir eine “unheilbare Krankheit” haben. Als meine Eltern, meine Schwester und mein Bruder Sean nach Oregon zogen, ich aber wegen meiner Arbeit in Colorado bleiben wollte, war es das erste Mal, dass ich für längere Zeit von meiner Zwillingsschwester getrennt war. In dieser Zeit lernte ich meinen späteren Ehemann Dave kennen.

Kari mit ihrem Ehemann David Doctor.
Beide haben Spass an Karis neuer Frisur.

6 Monate später erfuhr ich, dass Sean (zu diesem Zeitpunkt 27) mit Bauchspeicheldrüsenkrebs diagnostiziert worden war. Dies war ein schwerer Schlag für meine so innig verbundene Familie. Ich beschloss, ebenfalls nach Oregon umzuziehen und meine Arbeit von dort aus weiter auszuüben. Nach mehreren Monaten kam auch David nach Oregon, um uns dort mit unserem kranken Bruder zu unterstützen. Trotz seiner schlechten Prognose war Sean noch in der Lage, eine 18 km lange Rucksackwanderung mit uns zu machen. Ich sah noch so viel Kraft in meinem Bruder, obwohl er bereits wusste, dass er sterben muss. Es war so beeindruckend mitzuerleben, wie er jeden neuen Tag so intensiv wie möglich anging, in dem Bewusstsein, dass es sein letzter sein könne. Seans Kampf einschließlich Operation, Chemo und Bestrahlung dauerte 5 Monate. Bis zu dem Zeitpunkt als er starb, wußte ich nicht, wie sehr mich das berühren würde.

Nach Seans Tod kehrte ich nach Colorado zurück. Aber schon bald realisierte ich, wie sehr ich meine Familie vermisse, und ganz besonders meine Schwester Alissa. Ich berichtete David, dass ich gerne nach Oregon umziehen würde. Er war einverstanden und wir zogen im Januar 1999 gemeinsam um. Ich war 22, als wir 6 Monate später heirateten. Im Alter von 25 besuchte ich mit David eine genetische Beratungsstelle, um uns vor dem Hintergrund meiner FA über die Möglichkeit eigener Kinder zu erkundigen. Da die Beratungsstelle an unserem Ort nichts mit Fanconi-Anämie anfangen konnte, wurden wir an die 2 Autostunden nördlich von uns gelegene Oregon Health Science University in Portland geschickt, wo es mehrere Experten für Fanconi-Anämie geben sollte . . .

 

(Die deutsche Übersetzung der Fortsetzung von Kari Doctors Bericht folgt in Kürze)

 

While waiting to find out more about FA, David and I went to a fertility doctor to see if medications would help. After a month of taking medications to see if it could stimulate my remaining eggs; the doctor told me that it was not working. In the spring of 2007 some friends told us that they were expecting a baby after going through the process of In Vitro Fertilization. Her husband was excited to say that they had several frozen embryos left and maybe we could use one. After talking it over with them, his wife did not feel comfortable with this idea. I was a little disappointed as I thought this was my only shot to have a pregnancy, but I understood. With the hopes of getting pregnant naturally and knowing we did not have the money to explore other alternatives I slowly let my dreams fade away. This is when I first suspected that the aspects of our FA diagnosis were more serious than anticipated.

Kari und Alissa beim Camp-Sunshine-Treffen 2010 mit vier anderen erwachsenen
FA-Patienten. Ganz rechts im Bild John Hanna, der leider im März 2011 an Krebs
verstorben ist.

When we got up to OHSU to look further into FA, my sister and I had our blood tested but they did not find any signs of FA in our blood so we went home without any answers. They called us a week later and asked us to come back for more testing because they didn't believe that FA can just go away. They took a sample of our skin (a fibroblast) and from that they were able to determine that we did, indeed, have FA. The reason they told us that it was present in the skin and not the blood was due to 'mosaicism'. Of course, I didn't quite understand what this meant. We were now 26 and that started us on our quest to find out all we could on FA. We lived in Eugene, Oregon which naturally led us a few miles down the road to the Fanconi Anemia Research Fund (FARF) which had been started by Dave and Lynn Frohnmayer. They have a daughter with FA (Amy) and have had two of their daughters die from complications arising from FA. My mom and sister said they had heard FARF was in town years ago, but since our blood counts were normal and our health fine, they never checked it out. Our lives were about to be enriched.

In 2002 FARF got us in touch with Dr. Blanche Alter in Bethesda, Maryland where she works at the National Cancer Institute and has been studying FA for a while. She asked us to come to the National Institute for Health in Washington, D.C. for further testing. My sister and I happily subjected ourselves to a battery of tests for a week, all the while not understanding what this meant for our future as all we kept hearing was that most people diagnosed with FA don't live very long or will develop oral or gynecological cancers as a young adult. At 26 years old I just kept feeling like we had beaten those odds. At the time both felt great and did not have any medical problems.



Kari Doctor mit dem Adoptivsohn Ihrer Schwester Alissa und
Ihres Schwagers Patrick. Sehr gerne hätten auch Kari und ihr Mann
David ein Kind adoptiert.

In 2003 my twin sister also got married to Patrick. From our experience and the results she got from her testing at NIH Alissa knew she would not be able to get pregnant naturally either, so they discussed pursuing adoption. Before they even had a chance to fully start the adoption process, they were told a 13 month old boy was up for adoption. After a whirlwind of activity they got the news that the state chose them and suddenly they were parents. This was all orchestrated by God. Now almost 4 years old, my nephew Tyler is an amazing blessing in my life.

It was one of those chilly spring mornings in 2007 where I just wanted to stay warm under the covers. I tucked my hands under my armpits to warm up and that is when I felt a solid mass on the side of my right breast. It took my breath away. I made the call to my doctor and she had me come right in. After all, I was only 30 years old and this was not on the list of things to watch out for with a Fanconi Anemia diagnosis. However, this hard lump which was not causing me any pain was a cause for concern. I got a mammogram which then led them to order an ultrasound. As I lay there in that small quiet room I could see the look on the technician's face when she told me she needed to have another tech come in. After what felt like an eternity, she finally returned with another expert who told me that they would need to order a CT scan to get a further evaluation. By law, they are not allowed to release their findings. I decided it was time to get the rest of my scans at OHSU where I could involve those familiar with FA.

I started doing my own research relating to the radiologist's scientific reports from the ultrasound. Although it was not clearly stated that I had cancer, they used the words 'white calcifications'. In many cases, this did show cancer. I prepared myself physically and emotionally. My mom and sister went with me for my CT scan. Before I even went in for the scan a radiologist, who has been is this business for 25 years, told us that with his experience of looking at scans he could tell us right now that this is cancer. Because I had prepared myself for these results - I stood strong - while my mom completely lost it. I can only imagine her pain as she had thoughts of losing yet another child to cancer. The CT scan showed it was breast cancer.

My doctors and I chose a double mastectomy and a complete hysterectomy because of the risk of getting ovarian cancer due to FA. The surgeon removed some lymph nodes to check if the cancer had spread, but they came back negative. Because I have FA, the decision was made not to receive chemo or radiation and to just monitor my own body for 5 years while taking a small little pill that most patients take after having had chemo. At this time, I actually felt lucky because I only had to have surgery and didn't have to deal with the side effects of chemo.

Three years passed since my cancer diagnosis and all I had to remind me of it was that little white pill. I wondered how such a small pill could really be so effective in fighting cancer. I met with my oncologist every 6 months to run routine blood tests. My nurse practitioner, (a family doctor) was also still in charge of my yearly female exams. She too ran blood tests and noticed at one point that my liver enzyme counts (ALK, AST, ALT) came back abnormally high which pointed to a bone or liver disorder. Within a week I was told that my cancer had metastasized to my liver and had been there for a while. Still not wanting to do chemo the doctors chose to remove 60% of my liver in hopes of removing all the cancer. The first 2 months after surgery was an uncomfortable and difficult healing process, but since none of the scans had showed the cancer anywhere else in my body I felt confident that this would be the last of the cancer and knowing that I never had to have chemo or radiation made me feel pretty lucky. Especially knowing what my brother went through with his pancreas cancer.



So kennen Camp Sunshine Teilnehmer Kari Doctor seit vielen Jahren:
Immer freundlich, immer am Lachen, immer an Gesprächen und am
Austausch mit anderen interessiert. Und immer hat sie ihren Foto-
apparat dabei, um die schönen und wichtigen Dinge im Leben fest-
zuhalten.


The doctors told me they would do another scan in 6 months to see how everything was looking. Two months after the surgery, I was feeling pretty good so we booked a family trip to Hawaii for a two weeks. It was amazing there and it really gave me time to reflect and showed me how to treasure each moment I have with the ones I love so dearly.

My 6 month scan revealed saddening news - there were 6 new tumors in my liver. This time the doctors felt like there would not be any choice but to try chemo. I asked about the possibility of a liver transplant at that point, but my oncologist said, "I believe 100% that the cancer is in the rest of your body but we just cannot see it yet." This was a blow to our family, but I for some reason, felt strong. I know I can attribute that to God who has given us a promise from Jeremiah 29:11, "For I know the plans I have for you, declares the Lord, plans for welfare and not for calamity to give you a future and a hope." It may not be the future I was hoping for but I believe I am here to be a witness to His glory and mercy. If I can touch another person's life through my own trials and show them God's grace and His promise of everlasting life through His Son Jesus then my pain here is worth it.

I started chemo in November 2011. My oncologist, his board and the FA researchers carefully chose how to proceed with my treatment and started off with a very low dose of the chemo Abraxane to see how my body would react. After a few months of treatment I was able to work up to 100% but not without extreme mouth sores. My hair started thinning (it used to be long and extended to the middle of my back) so I decided to cut it to shoulder length for the first time in my life. It was very liberating. Shortly after, my hair started coming out in clumps so I knew it was time to shave it. When I made that decision, my twin sister and both of our husbands told me that they too were going to shave their heads in solidarity with me. This was very touching and it made the process easier.

The chemo seemed to be effective, but due to the harsh side effects (related to FA) my doctor lowered the dose to 70% for the next few months and then ran another scan. It really looked like the cancer was nearly gone and I could take a 'vacation' from chemo and re-scan in 3 months.

During this time, my husband received news that the company he had worked at for 12 years had been bought out again and this time he was told that it was a possibility that they would shut his plant down, but it might take months. He immediately started applying locally for several jobs, with no success. When the news of the closure date came, it was much sooner than expected, but it also had some good news. There were positions available with the new company that would fit David's skill set, but if David wanted a job with the new company then we would have to be willing to move.

It was during this 'chemo vacation' and soon after the news that David's plant was closing that my husband and I flew to Puerto Vallarta, Mexico for 10 days on a trip we had been planning for months with my sister and her husband. Bald and beautiful in paradise, I felt free from the worries of cancer and David's job situation. It meant so much to me to share this adventure with my sister. I was able to thoroughly relax but I knew David was thinking about his job situation at home. His major concern was making sure I was going to continue to have the insurance coverage I needed to continue treatment.



Kari Doctor beim Camp-Sunshine-Treffen 2012. Bis kurz vor Beginn
des Treffens stand nicht fest, ob sie teilnehmen konnte. Bei Kontroll-
untersuchungen waren neue Krebszellen entdeckt worden.

As soon as we got back David started making calls to the supervisor who worked at one of the plants for the new company 2 hours north of us and verified there was a possible position open for him to apply for. At that point life started to take on a faster pace. If he was accepted it meant that we would have to get our house that we have lived in for 12 years sold quickly. He got an interview within week and found out the day of his interview that he was hired and they were going to take care of moving and other expenses. The next adventure was the whirlwind of activity to find a new apartment, get our house ready to sell, pack, move and settle in to a new community. I know God was working on all those details because everything worked out perfectly for us. We found an apartment close to David's work, David loves his new job, and we got an offer for full price from a solid buyer after it had been listed for only 11 days.

After 3 months off of chemo my hair started to grow back and I was feeling stronger. The summer was going by fast with all the moving and activities, but I was thankful I was healthy enough to do it all. In August this year I went in for my PET scan. I received the results days before leaving for Camp Sunshine (FA Family Camp). I was sitting in my apartment alone (my husband was at work) when the doctor called me with the results. It showed that my cancer had returned in my liver and now there were over 30 tumors. This was truly devastating news that brought uncontrollable tears. My husband left work immediately to be with me that day. My mom and sister drove up a day early to be with me before heading to Camp Sunshine. There I received the support of my other Family. This was perfect timing for me to be surrounded with so many people who understood the struggles I was facing.

I leave you with these words which another breast cancer fighter titled 'Finding Meaning in Your Illness'. "My friends view the world as if they're going to live until 80 or 90. And I'm jealous that they don't have to think about the things that I do. I want to live that carefree life, and I don't have that any more. On the other hand, I enjoy things more than they do…Who knows what's going to happen? I look at things differently now. After cancer, you feel everything. Everything is intensified. You almost go back to that childlike state where you're more honest about everything. Everything's more vivid. I am proud because I took an experience that could have been negative, and I've made it one of the most positive things in my life." I echo her thoughts because my sister and I used to talk about growing old together and what we would do in the future. With a Stage 4 cancer diagnosis my thoughts have changed. Remember to cherish your friends and family and tell them you love them. Each person's journey with Fanconi Anemia is different, but just to remember that you are not alone. There is so much support out there world-wide; you just have to reach out.

Wie ihr Bruder Sean, der an Bauchspeicheldrüsenkrebs
starb, musste auch Kari Doctor in ihrem eigenen Krank-
heitsverlauf schon mehrfach Chemotherapien über
sich ergehen lassen. Sie nimmt die Krisen wie sie kommen.
Was ihr hilft, ist ihre Familie, ihr tiefer Glaube und ihr
bedingungsloses Gottvertrauen.

Copyright © 2013 Deutsche Fanconi-Anämie-Hilfe e.V.

Stand: 23. März 2013

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