Coping with Cowden Syndrome Part 1

Some people say there is no God. In giving excuses they say, "If there is a God would he allow good people to suffer, bad people to prosper, children to get sick and die" etc. Like every human being who has ever lived, I have had my share of bad times. I was born with a very rare condition called Cowden Syndrome. Approximately 1 in 200,000 people are affected though it is believed many are not yet diagnosed.

My mom said when I was born she believed the dark spot on my face was a bruise from the doctor's forceps. Maybe she thought it was a rather dark "angel kiss" birthmark when it faded more slowly than a bruise. Until my mom passed away one month ago as of this writing she said she could tell when I felt bad because the birthmark showed up prominently then. My parents had no way of realizing this mark meant more than being a normal birthmark. Other than the spot, I was a normal infant a little delayed physically from hypotonia (weak back and neck muscles) but normal. I caught up by 13 months old and began walking.

Because my head was larger than the norm, my parents took me to Memphis, TN in 1978 at less than one year old for a ct scan to rule out hydrocephalus. In 1978 ct machines were only a couple of years old and the nearest place with one was Memphis,TN (about 100 miles from where we lived at the time). Ultimately the scan showed I did not have hydrocephalus but simply a large head I would have to grow into.

We hoped that would be the end of medical trips to Memphis. None of us realized it was the beginning of many dozens. After physical therapy caught me up to the point of walking at 13 months old, we thought life would go on, the medical trips to Memphis would be over, and everything would be fine. None of us realized we would again make the trip to Memphis when I was diagnosed with a hemangioma of the scalp. I had my first surgery in Jan 1984 to confirm it was a hemangioma and not an aneurysm. Again, after my post operative period we thought my medical trips to Memphis would be over. Two years later, in 1986, I experienced something that would change my life forever. I was diagnosed with dysgerminoma, ovarian cancer, and had two additional surgeries. At the time we thought we were lucky in the cancer being caught early. Six years later we were surprised to find it returned.

Within the course of the next six years I had surgeries for benign growths. No one knew the cause. Because there appeared to be no one in my family who presented in this manner there was no reason to believe the problem was genetic. During the 1990's I went through many cancer scares and in 1992 the dysgerminoma was found as recurred. I began chemotherapy and it ended four months later. Additional cancer scares came up on my brain, thyroid, ovary, uterus, and more. It wasn't until 2008 that I was diagnosed with another type of cancer and this was after we finally had a name for the problem---Cowden Syndrome. Cowden Syndrome is a condition caused by a mutation in the PTEN gene that controls cellular growth. People who have a PTEN mutation have issues with their cells not dying as rapidly as they need. At the time of my eventual diagnosis the condition had been named for 40 years-not a long time. A test for the condition was not available until well after I exceeded the age St. Jude hospital could legally test me. The way I learned of having Cowden's was as one doctor put it "nontraditional nomenclature." The translation was I found a paper from my 2002 operating room report that said if I had colon polyps I likely had this condition. Earlier scans had shown polyps so that began a several year ordeal in being officially diagnosed with what I knew I had simply by reading the facts online. Even my geneticist, Dr. Kent McKelvey at UAMS in Little Rock knew I had Cowden Syndrome based solely on physical features and my medical past. "You are textbook" he said. A geneticist I met later said she had never seen a case present as strongly as mine-this would be a comfort for me when I learned the two greatest blessings in my life inherited my exact mutation. "They likely will not have as many problems" I was told. I pray every day this will remain so.

Within six months of learning my children also have Cowden Syndrome, my mom went to the physician and ultimately learned she had stage IV colon cancer. Adenocarcinoma was her exact diagnosis and just as my paternal grandfather who underwent an adenocarcinoma diagnosis in Nov 1976 it stole her life. My grandfather lived for six weeks following his diagnosis. My mom lived for six months following hers.

Because vague signs of Cowden Syndrome present on both sides of my family and my parents opted out of testing, we are unsure of where it came from. I may be first generation with the condition. Ultimately it matters not where it came from but that it is there. I spent 30 years not understanding why I had these problems. My children were four and five years old when we learned they have the mutation. There is also a game plan with them we did not have with me. This knowledge provides some comfort but the guilt eats at me every day. I gave them this condition. No, I did not chose for them to have it but they do and both show small physical signs of cellular overgrowth already.

Besides the medical problems, we had other events that may have caused people to stray from believing in God. Vaguely I will say that in the course of three years my father lost his money farming, my brother showed serious behavior patterns that continue to affect his life at age 42, and I was diagnosed with cancer. Prior to that point both of my grandfathers died six weeks apart-one from colon cancer and the other from a major heart attack in Dec 1976-Jan 1977.

After that point my dad had an aneurysm burst on his brain in August 1994. He was 49 years old-the same age his dad was when he lost his life to colon cancer. My family was told as much as to prepare for dad's funeral. My dad is now 64 ½ years old and though he has some disabling issues from the incident he is remarkably lucid and in much better shape than the "vegetable" we were told to prepare for in the best case scenario.

I believe there are two types of people. We all face bad and see bad happen to those who we think do not deserve it. Did I deserve cancer at the age of 9? After several years taken to accept it and understand what cancer was I can say I did not. Why did it happen? A Christian would say only God knows why. It did not happen because my parents did something wrong or because I did something wrong. When the earth was cursed, so were our bodies that come from the earth. I consider it as winning a lottery no one wants to win. I did go through grief and anger at God throughout the course of the twenty something surgeries, the three cancer diagnoses, and especially the loss of who I believe was the most wonderful woman ever---my mom. These feelings I went through are all normal and I will discuss them later in more length.

My mom used to say it drove her crazy when people asked how she got through my illnesses. She would respond, "I had no choice, she is my daughter." As I grow older I realize she had it wrong. She did have a choice in that she could have coped with the problems by numbing herself with alcohol or medications. She fought my illnesses with me straight on. When it came time for her to battle cancer, a part of me felt guilty because I have thus far lived 24 years since my first cancer diagnosis. A part of me thought I exhausted her already in fighting cancer even before she was diagnosed. My mom was incredibly strong and in the six month period we had her following the diagnosis, she almost died twice. She lived longer than we feared she would and she went down fighting cancer with all she had. My mom is a big part of the reason I decided to write this story in depth. No, she didn't handle things perfectly with me when I was sick but she did a wonderful job. Another reason I decided to write this story is because I continue to see blank faces from doctors who have never seen me before when I mention I have Cowden Syndrome. Cowden Syndrome isn't well known and I've seen looks from, "is she making it up?" to "what the heck is that?" Briefly I was able to run a website to help emotionally support other people with Cowden Syndrome but had to ultimately close it due to dire financial issues. A man sent an email telling me the site and hearing my story really helped him. The combination of these events is what culminated in my writing this story.

When I cannot verify certain parts of my story are true, I will cue you in. Without my mom around to ask, I have to rely on the not always correct memories of my father and especially the early memories for me are vague. My story began at birth, I had an event at age 6, the confusion and major problems began at age 9. We had the answer to what caused the problems at age 30. What will follow will be details in how I remember feeling about certain events, ways I wish I would have coped with the problems better, and just our general story up to this point. I will also dedicate some time to a better explanation of what Cowden Syndrome is and why it is directly tied to so many cancers.

The idea for a book has been in my head since I was 14 years old but I was never brave enough to try. This article is a compromise in that I can get my story out and not feel like the very imperfect writer I am. Without a name for my condition it was more difficult to write about. Knowing Cowden Syndrome is uncommon and there isn't a lot of personal information about people facing the condition made me realize the need for someone to share their story. At age 33 I have had cancer three times, more than 20 operations, and now have a 5 and 7 year old with the same genetic weakness. Together with the Cowden Syndrome statistical odds, my children and I are 3 in 600,000 people. A book from someone about this condition is long overdue especially considering the condition remains under diagnosed.

Because I am a Christian and believe God has used my illness to comfort others, I cannot possibly write this story without mentioning my faith every once in a while. I have to do something. While many pictures exist out there of me with my medical signs of DNA Issues and now some are out there of my children, it is not the entire story. We have Cowden Syndrome but we love life-especially those two.

Some people believe there is no God because of all the bad. I believe there is a God and the bad has a reason even if we can't see it. In spite of all of the bad in my life with ovarian cancer twice, I was able to have two beautiful children and experience other miracles. Some people may want to know why the bad and the questioning is normal. It took me many years to realize I don't have to know the answer. I simply have to trust it was the right one and quite possibly, in spite of everything, God is using my incredible ability to be open with people about my experiences to help someone. Perhaps the whole matter was a simple fluke. As I said before, I don't need to know the answer but by no means have I always been so accepting. I have asked God why-it is a part of coping with a rough event. He may or may not answer where we can physically detect it but always along the way, always in spite of everything, I have felt his whisper "I know what I'm doing."

This whisper is critical when many times I find myself listening to those around me who have not been there who say comments such as, "aren't you mad?" "You should be mad." Lastly there is my favorite comment, "you should love life more than the next person since it's been threatened from you so many times."

The bottom line of my story is to share what I have gone through (in a more detailed manner than in the past) and to let you know periods of feeling bad both physically and mentally are completely normal.

To be continued....