Genetic Testing Concerns: One Family's Personal Experience

When he was born, he did not cry. The labor of his entry into the world was hard on him. His head size at birth was 16 inches and his mom was a first-time mother, short of stature, and did not have a good build for bearing children. After eight hours of labor, the doctor assisted in his birth by Caesarean section. His prenatal environment was complicated from the beginning when his twin brother or sister failed to develop past six weeks. The stress of losing this baby (as it caused much bleeding) almost cost him life before it fully began. He was a fighter, however. His mom worried he would not survive but he did. She had no idea the worry had only just begun.

About mid way through the pregnancy, a confusing test called the triple-screen said his odds of having Down Syndrome was 1:6. His mom, only 26 years old at the time, was certain the test meant he was the 1 out of the 6 who would have the condition. He was a passive baby even before birth. The slowness of movement, the multiple times he had to be examined to be sure he was living, the screening test, it all combined to make his mom certain he had Down Syndrome so when he was born and did not cry she was not surprised.

They whisked him away to be examined quickly. Due to the increased odds of Down Syndrome, the doctor was too nervous to immediately send him to the nursery. As his mom waited in the recovery room, no detailed information was available regarding his condition. She did not have an image of her newborn son in her mind as he was whisked away before she could see more than the sprigs of blonde hair on his head. She was certain her baby was special. Special meaning the way decent people refer to people who have special needs. Already she had experienced a friend's mother saying she was having a retarded child while she was in the room seven months pregnant. Rather than reveling in the birth of her child, the mother was worried about mean people who would be cruel to him throughout his life. She was told his APGAR score-the score that indicated his overall health at 1 and 5 minutes following birth. The first APGAR score was only a 5 while the second was an 8. A score of 5 meant not normal but 8 was fine. She grew hopeful that if he had Down Syndrome or some other condition he was healthy.

She regretted not doing the amniocentesis after learning of the increased odds. Much time elapsed between learning of those odds on July 31^st and his birth in mid-December. An hour passed and then two. She asked anyone in a white coat who came near whether or not her baby had Down Syndrome. No one could tell her.

Eventually she was wheeled into a private room. The C-section pain was virtually non-existent thanks to an epidural and concerns being placed on her child rather than her own self. This concern for someone else was new for the mom. She asked her husband, "Does he have Down Syndrome?" Her husband said the doctor believed he was completely healthy and did not have the physical features consistent with Down's but she continued to worry. Five months of worry had her convinced it was certain and the doctor was wrong. Her husband said they would know for certain if he had Down Syndrome the following day. Several minutes later, she saw her son for the first time.

The nurse brought him in and for the first time the mom saw his beautiful face. Already present in that face were many of her same features but more attractive. The baby's big blue eyes turned toward her as she spoke to him. While he was inside of her, she read a Dr. Seuss book to him so often it was in her memory. As she recited the book, he drifted off to sleep.

The dad was on top of the world with the birth of his little boy. He told the mom of how their son was already so well behaved the nurse could lay him down and tend to other babies who were crying and he would be fine. Once the nurse dropped the lid on the trash can suddenly. The noise was very loud. The baby was startled by the noise-so much so that his first bowel movement occurred. Still he did not cry.

The first night after his birth, he cried only when he woke up and needed to be fed or have his diaper changed. Instead of having colic or becoming crankier when time went on the little boy kept the same personality. He slept through the night regularly by three months of age. It was apparent to everyone he was an old soul. Before his birth, his great-grandmother chided his mother for choosing the name Owen because she said it was a name that belonged to an old man. The mom did not mind the chiding. She wanted her son to have a classic name and it was a name her husband also loved.

Owen is his name and I am his mom.

I sit here writing this while going through a very difficult time in my life. Last week, Owen and his 18 months younger sister Hannah were given blood tests for a condition known as Cowden Syndrome. The geneticist at the time knew by physical examination but a test was done that showed I was positive for it. Cowden Syndrome is caused by a mutation in the PTEN gene. A protein that controls the death of cells isn't sufficiently produced so someone who has Cowden's is at a dramatically increased risk of cancers. On top of the increased cancer risk, benign cysts and tumors are extremely common. Though I had these lesions on my thyroid, brain, breasts, colon, skin, and other places as well as dysgerminoma no genetic testing was done. I found a notation in an operating room report that suggested Cowden Syndrome may be the culprit. After some time passing in attempts to be tested, I found a doctor who sent me to a geneticist and we learned the diagnosis in 2007. In 2007, Owen was four years old and Hannah was two. I did not realize my children had 50-50 odds of inheriting this condition.

My doctors have explained Cowden's is rare but it is because it is very under diagnosed. Approximately 1 in 250,000 people have this condition and know it. Of the four in a million who have it, I am the exception in how it presented rather than the rule. I have almost every symptom possible of the condition. I am severe. I struggle with knowing the two diagnoses of dysgerminoma and the diagnosis of breast cancer have likely shortened my life span. Will I live to see my children grow up? Now I struggle with something infinitely more painful-worrying about my children facing similar problems.

My husband was with Owen when he was tested per Owen's request. Owen was the same Owen and did not cry during the procedure. Hannah chose to have me by her side. We separated them because we knew if one saw the other it would be worse. They used the same procedure with both children-wrapping them up "like a burrito" and then plunging the needle into their tiny veins to draw out the blood needed for the test. Hannah screamed when the test was taking place. My eyes welled up and I fought the tears. I remembered my own mom-as well intentioned as she was -crying when I underwent procedures. Her upset always made me repress how I felt and I knew if this is the beginning then I had to stay strong. Owen had a better idea of why he was being tested but even he does not fully understand. On the way home from the hospital, he said, "I know why they had to take my blood." My own blood ran cold because I was blaming myself the entire three hour drive home. His response was, "to keep me healthy." My little Owen was once a passive baby and is now a passive child. Curious and intelligent beyond what I could have dreamed but with a personality of seeming resignation. I find myself wondering how to teach him to fully enjoy life if he is physically healthy. The diagnosis of Cowden Syndrome will complicate things further.

My husband and I had a conversation during the drive about what we would do if the tests are positive. Logic says that with 50-50 odds and with both children showing some variable signs one or both may have Cowden Syndrome. We spoke about my parents and how even though they had the best intentions at heart for me they protected me too much. Until that moment, it was unclear the effect not being in sports, drama, or any extracurricular activities had on my self-esteem. I did not realize my parents' not teaching me to do laundry, cook, or run a household had done damage. My parents did this because they were unsure I would have a family and need to know those things. They wanted the best for me and I do not fault them.

It has been five days since the test and will be another four to six weeks before we know the results. The wait feels similar to my wait after Owen's triple screen and that is why I began this article with that story. This time I know my children and would not change anything yet deep down I have guilt. I wonder if I would have made the decision to have children had I known they had 50-50 odds of being diagnosed with Cowden Syndrome. I cannot distance myself enough to know what my choice would have been. I see a beautiful blonde haired little boy and a beautiful brown haired little girl. These children are the ones I told my husband we would have even before we were engaged. I had dreams of them years before they were born. I knew Owen would look like me and Hannah would look like her dad. These are my children-fluke gene mutation/deletion or not. They make us the perfect family. If I have passed this on, I will not love them any less.

If there is one thing I am certain of it is regardless of the outcome of this test, my children will lead as close to normal lives as they possibly can. By Spring we will know the test results, and in Spring soccer practice begins. Owen and Hannah will be there. Hannah is beginning to show an interest in being a mommy and in cooking. We are learning together. I am working through my emotionally stunted development with a therapist while attempting to keep my children from following this same path.

So much good is present along with the bad. If my children have this condition, we have a name and a plan of attack. Had we the knowledge of what it was in 1986, we would have caught the dysgerminoma before it compromised my ovary and my kidney when it recurred. Looking backward never got anyone anywhere but at the very least my experience has placed a name with the condition. I am here with my experience to hold their hands when they need it and to push them to do better than I did. We will not assume defeat even if the worst happens and one is diagnosed with cancer. Life is such a day by day experience. I want so much better than I had for my children but isn't that what all moms want? Cowden's or not-they will have better.

On the triple screen test http://en.wikipedia.org/wiki/Triple_screen, On Cowden Syndrome http://en.wikipedia.org/wiki/Cowden_Syndrome, On dysgerminoma http://en.wikipedia.org/wiki/Dysgerminoma