“No, they’re not real (the real ones tried to kill me)”
the surgeon who two weeks ago did my hysterectomy did a wildly uncomfortable internal that brought back memories of the one when I was 41 weeks pregnant.
She then declared that I was, “healing well.”
I laughed and reminded her I am a “professional at recovering.” At least she has a sense of humor.
That is what we Cowden’s patients do, isn’t it? Surgery to surgery, procedure to procedure, happily enjoying the time in between. Knowing it will end. We recover. And we darn well better recover stronger and wiser and with our humor in tact – the alternatives are frightening.
She did tell me, because nothing should ever be quite “normal,” that she has never actually seen internal stitches come out so fast, and in pieces so large.
I told her in the hospital my body didn’t care for dissolvable stitches. She laughed at me then too. Come on, almost 20 surgeries later – I know my body.
So, it’s essential that I don’t lift anything over 10 pounds for at least another 3 weeks. I need to avoid bending any more than necessary. No swimming. No pushing. No pulling.
When I left the hospital they told me I could drive in 2 weeks. I lasted 6 days. I am an overachiever. I also asked them when the chauffeur was coming to drop off, pick up, and all that other stuff.
Now, since I know the stitches are loose too early I will try to be good. But really, when are they sending the housekeeper, preferably one who cooks allergy safe meals? My husband is working all day Saturday and Sunday. There is a bit of an echo, or occasionally an attitude when I ask for help.
So, my girl and I will make it through. Ticking the time away until her appointment June 14th. This time its my turn and she is awesome. Next time it will be her turn to be “healing well.”
Dear God, please remind me to ALWAYS be there for her, and support her, her whole life, no matter how tired or busy I may be. AMEN
So, last night after we left the endocrinologist‘s office, I couldn’t shake this book. “Cloudy With a Chance of Meatballs.” If you are not familiar with the story, basically in the town of Chewandswallow they get their meals from the sky. They never quite know what’s coming, but three times a day it rains things like juice… or meatballs. Eventually this starts to become a problem for them, as the portions get larger and more unpredictable. It is a cute story, worth a read if you have a little one. But nothing I want to model my LIFE after!
This was the long awaited appointment for my 8 year old. The one who has been showing all the signs of precocious puberty. She has grown 5 inches in the last several months, lost almost all her baby teeth, grown 2 shoe sizes and now at 8 yrs, 9 months, stands 4 foot 9. This is the appointment where we were going to get the results from the testing, and she was supposed to tell me that the blood in fact confirmed the early start of puberty. Then we would go home, and start having chats, and we would make it through.
Except, as I have said before, things don’t often go according to plan. So, regarding the extensive lab work up, she said, “Your daughter is NOT in puberty. All the hormones that tell the brain to trigger development are sleeping.”
Excuse me?
How then do you explain the breasts that are developing, the palpable painful lump, and this giant growth spurt that you called “typical of puberty?” AND What about the breast sonogram?
Well that is normal. It says “Tanner Stage II development.”
But doesn’t that mean puberty?, I asked.
Well, yes.
But you said… (As I reach for a copy of the report) Hey, it also says “area of palpable abnormality of clinical concern… compatible with Tanner Stage II development!” So, should we be concerned? (Getting slightly more alarmed and annoyed)
No, she says. Look here at the pelvic report. It says the uterus is not in puberty, but the ovaries are enlarged, and consistent with early hormone stimulation.
Stimulation from what? Because now I am confused. Is this puberty or not?
So, I kid you not, she draws me a picture. A crude picture of two breasts, a uterus and two ovaries. She puts a small dot on one of the ovaries and Xs it off. She says that at some point she “probably” had a cyst on her ovary that caused her body to think it was in puberty and it began developing. But don’t worry, it stopped because the hormones in the brain are not awake.
WHAT? Has anyone told her body?
I don’t need to see you again, unless you have a problem…as she pushes me out the door.
What about the sonogram that suggests clinical follow up?
UM, HOUSTON…. we DO have a problem!
I swear I almost asked for my CoPay back on the way out.
Is there anyone who gets that Cowden’s Syndrome is a RARE disorder characterized by a mutation on the TUMOR SUPPRESSOR gene? If the body and the labs don’t agree, I think we probably have to look further. Just in case there is a tumor somewhere that didn’t “fall off.”
Everything about this, from the difficulty of scheduling it at a major NYC hospital, to the way the report was written in the double speak of maybe its normal, maybe not, to the contradictory interpretation by the doctor from what she sees on the body and the paper, makes no sense to me.
I have nothing against weather reporters. But they are wrong a lot. Their life is of guesses and predictions. I guess I hoped for more from the doctor than Cloudy, With a Chance of… Puberty!
I will get my umbrella, my Mommy mouth, and all my questions. I will keep asking until we get some answers. But really, why must it always be such a battle?
If I had a dollar for every time someone directed that comment at my daughter or I, I would be retired – a wealthy woman.
We don’t “look” sick. As a matter of fact we look alike. A lot alike. It’s probably due to the fact that I, having the ‘honor’ of being the first in my family known to have the PTEN mutation that causes Cowden’s Syndrome. To look at us, you would see a vibrant mother and daughter duo – 8 and 38.
We have a lot in common.
When I push her through Disney World in her modified wheel chair each summer, I get the stares that say “spoiled.” When I pushed her through the Susan G. Komen Breast Cancer walk last fall so we could support my mom, a survivor, someone actually said “Why don’t you get the ten year old out of the stroller?” Actually she is 8, and she would much rather walk.
You can’t see the AVM in her knee. The one that has cost her 4 surgeries with an expert people travel the world to see. You can’t know by looking at her that in February he told us he could not “fix” it. That he was placing us under the care of another surgeon hours away. You can’t by looking at her, see the constant swelling. You can not see the pain.
That is because she is ALWAYS smiling. She can work a room, and make everyone feel welcome and important. She is a star student, reading almost 2 years above grade level. She is friendly, and funny. (She had to get something from her DAD.) She is confident enough to dance, and participate in storytelling contests. (Not sure exactly WHO that comes from.)
She takes medicine for pain, medicine for anxiety, medicine for viruses that plague her, medicine for allergies, medicine for her stomach – to ease digestion. She takes countless diet and nutritional supplements. She follows a Gluten Free, Casein Free, Soy Free diet without a minute’s hesitation. She is polite, and extremely well behaved.
I am so proud of her. Last week when she was having one scan after another they called her a “model patient.” Now I must confess when she was a baby and I was wondering what she would be good at, being a model patient wasn’t on my list of aspirations. But since she is good at so many things, the fact that she handles her appointments in stride makes me proud, and confident that she will have the ability to stay out in front of this wretched disease.
“You don’t look sick.”
But yet, we are. She had surgery in February for that pesky AVM. I had a diagnosis of breast cancer in March, and a complete hysterectomy in May. Next month we will take her to have the precancerous thyroid nodules reevaluated, and to have another scan on the knee to pin down when the next surgery will be. Not if, but when.
With all of these ‘invisible” illnesses come worry. It is not uncommon for me to talk to my 8 year old about if she will need a mastectomy, even before her own breasts have developed. She asks me if she will need a hysterectomy. A wild question, when the concept of what she will be when she grows up hasn’t even been ironed out. But she is astute. She knows she will likely walk my road. She watches. She thinks. She asks.
So no, she doesn’t look sick. Neither of us do, but some days reality is tougher to face than others. Some days that happy face is a little harder to find.
So, when she woke up today after PT Thursday, kickboxing, and swimming lessons on Friday, she was sore. Really sore. The celebrex wasn’t helping. She couldn’t bend her knee. I rubbed and stretched. She was annoyed.
She is allowed to be annoyed, here in this house. She is allowed to be discouraged and disgusted. I have been all of those things this week, and I know its important to let them out. I am recovering from my second surgery in less than three months. I am tired. I am annoyed, and aside from a few treasured folks who keep checking in, I am really really lonely. This surgery seems to have pushed a lot of my support network over the edge. They are a bit tired I guess. It’s hard to be there for someone when your own life still keeps going, I know. Especially when they don’t look sick.
So, today she had a turn. She was discouraged about the prospect of more surgery, and disgusted that the knee seems to remain swollen. She mourned her dream of running track. She cried about the permanence of this disease. She told me she wished she could get sick with something “normal” like a broken arm. You know, something that can be “fixed.” She sobbed out her frustration with doctors, surgeries, cancer, and the worries connected with each. She wants to be more like her friends. More carefree.
My heart ached as I held her. She is a tough cookie, but we are all entitled to lose it. I cried because I felt sad about giving this to her. I held her tightly and told her how much I love her. We went through a few tissues, and some long talks. Lots of things I can tell her I understand, and then some things I can’t. I told her she can cry. She can be mad. She can worry. She just can NEVER let it win. She can NEVER let it define who she is. I will always be sorry she had to inherit this, but I will NEVER be sorry I have her. She is my heart and soul. She is my sunshine. She saved my life.
“You don’t look sick.”
She brushed it off after a few minutes. Back to the Ipad, and back to taking care of me. No one outside of my husband and I will ever see her like that. Her carefully guarded emotions will only let loose where she feels safe. No one else will ever know her anguish, her pain, her heartache, her worry. No one, not even our closest family members would ever guess.
I think about all those people, and their quizzical stares. I know I can’t be too angry. They don’t know any better.
“You don’t look sick.”
She and I are a lot alike, in so many ways. And I wouldn’t change a thing. We are going to be just fine.
I wish people would be careful who they impersonate. I am like this “big cat.” Waiting peacefully… until…
Have I mentioned the doctor and hospital bills? Not that we need to pay them very often. We are blessed with two solid insurance policies. It’s the dealing with them. When you are at appointments as often as we are ( and the COWDEN SYNDROME/ PTEN mutation seems to make sure of it!), the errors are countless. And the HOURS on the phone…
I shouldn’t complain. I have been home enough the last few months that I can spend hours on the phone. But, really after a while when you are fighting so hard for your health, and many days your sanity, the incessant battles with billing departments can be draining.
And, when I am at work – that is when I could really use a secretary, or a clone. Either way…
The dreary weather is getting to me. I am lonely. I feel better, but can’t do much. It’s nice to be home, but not with so many restrictions. The internet is full of poison. I can not read one more article on post menopausal weight gain. I am only 38. This is sometimes surreal. Menopause… I should have at least another 15 years for that! So, I try to be productive.
Like the bill I got for a visit to the ER when I was never there. Yep, I was never there. I have made no less than 15 phone calls about this since May 10th when the bill first came in. Everyone is suspicious of me. They have bounced me through departments. I even got a letter from GHI saying the bill was filed electronically using my Social Security number. (Because I needed one more worry.) Seems to me it should be easy to trace. If someone cared.
I just sent an Email to the general bank at the hospital. It was 2 hours ago. They have already asked me for more information and rerouted it to a few supervisors. At least someone is doing something. But me, I am waiting. My credit scores were just printed for our mortgage last month. They were very good. I am sure I need to call and request detailed reports.
Every time I go to the hospital, whether it is for my daughter or me, they want copies of the insurance cards, copies of our driver’s licenses, (mine and my husband’s) and our social security numbers. I never give out my daughter’s – that is the one piece of information I can withhold, but they get everything else or they won’t treat. They have that power.
What I get are the bills. Some of them are just fun to deal with. Like yesterday when I told the hospital that did my daughter’s last surgery that it had to be illegal to bill our primary carrier $40,000 and get payment in full, then bill our secondary carrier $25,000 and get nothing (because the bill was overpaid in their eyes) and then try to tell me I owe a $300 deductible. Nope. Not paying it. The supervisor adjusted my balance to zero when I questioned their billing practices. Surprise.
Now I have the unique job of proving I actually was NOT at a hospital when someone says I was. It may take me all next week, but I will get it done.
Although I would like to have a chat with the poor soul who pretended to be me. Ok my life could definitely be worse – but really, pick more carefully who you want to impersonate buddy.
I am busy here kicking the bottom of a rare disease. I am tired, but I am a fighter. Don’t mess with me – unless you really want to try being me. I fight full time. And like I said, when it’s important – I win.
My daughter gave me a button for Mother’s Day. She made it in school. It says “You are Special” on the front, and then on the back it says “You are 1 in 200,000.” Decorated with the obligatory hearts, she had made her point. Even in school, creating this “fun” assignment – she remembers. I can call it “unique,” “special,” and all sorts of motherly words. But she knows what it means. It means different.
She and I may be the same – in many ways, but not her friends. She can not ask her friends if their breasts hurt as they begin to develop at 8… because in reality she is different in this too. At 8 and a half she stands just shy of 4 foot 9. She weighs 73 pounds and wears a woman’s size 5.5 shoe. All sorts of wild things are happening to her body and I can only pray they are not related to the Cowden’s.
The endocrinologist called it precocious puberty, and was ready to write it off. I asked if she should start to develop close to when I did. She said girls tend to follow the mother. I told her then this was about 2 and a half years too early. She said it was ok. Then I reminded her about the Cowden’s. The tendency toward tumors. Can you reassure me that it is just normal development causing the breast pain I asked? “Well if she were any other child…”
But that’s just the point. She is not any other child. She is 1 in 200,000. With an early diagnosis that is both a blessing and a curse. She will go for blood tests on Saturday. If her blood shows that her hormones have begun puberty – then we should be ok. If they don’t – then we have big problems. A new internet friend whose daughter is now 22 was diagnosed with ovarian cancer at 8. Mom refused to accept the answer of precocious puberty without substantiating lab work. Good thing. It saved her little girl’s life. I have to wonder until the blood comes in, could there be a cancer lingering somewhere in her body like there was in this other girl, feeding the hormones – tricking the world? The thought makes me physically ill.
So after the blood tests there will be a breast sonogram, and a pelvic sonogram so the ovaries can be looked at. There will be a test to detect bone age. Maybe I am pushing too hard. Maybe I am pushing just hard enough. I won’t know, really ever. I just have to trust my instincts.
The irony is not lost on me – that on Wednesday I will go for a complete hysterectomy – to eliminate a suspicious polyp in my uterus and some ovarian cysts, and as soon as I get word on when I can drive – I will take my baby to check on all the things I will have already lost – Breasts, uterus, ovaries.
She asks a lot of questions, my very smart 8 year old. She asks how long before she will have to have the surgeries I have had. I want to say, maybe never. But I know that’s probably not realistic. So I keep reminding her that I am 30 years older than she… she has some time (I pray.)
Tomorrow I will go to work, and I will think about her all day. She will go to school and pretend to be just like every other third grader, as she deals with more intese grown up worries than any child should have. She doesn’t want to be different. But she is. And she’s mine. And she may very well be the best kid in the world.
So it was a really nice doctor – or two, who said in the summer of 2011, you have to take your daughter to a genetecist. There are too many unconnected “dots” I was told. Someone will be able to diagnose something. But, having gone almost 8 years with her multiple surgeries, countless doctors appointments, and unexplainable ailments, I had my doubts. I spoke for an hour with the genetic counselor before the visit. I think it took the doctor all of 20 minutes to say, “It’s a PTEN mutation, most likely Cowden’s Syndrome. We will test her today. She will be positive, and you will be too mom.”
P – what? Cowden’s Syndrome – What the hell? How could he know that from looking at us? Was I missing something – some kind of freaky attributes that made us so obvious? I left more self conscious than curious, and never even looked up PTEN – until we got the call that she was positive. By the time they called me in for my blood test, I was sure. I had read everything I could get my hands on. It explained not only her surgeries, and many of her issues, but also my own. My positive test results a few weeks later didn’t even startle me. What did was the admonition from the doctor. “These cancer risks are real, and you are in real danger. You both have to be watched, but she is only 8. You are 38. The threats are much more severe for you.”
Processing the permanence of a genetic disorder took some time. Ok I am lying. I still have not fully absorbed what all of this means, and the reality that it is here to stay. Mom was tested. She is negative. Little sister was tested. She is negative. Happy for them – truly happy. But, what the hell? Where did it come from, and why did I have to give it to my beautiful girl?
Diagnosis was followed by a whirlwind of tests. First for my baby (ok she is my one and only so even at 8 she is sometimes my baby) Brain MRI – negative. Thryoid sonogram – positive for 4 nodules. Biopsy – suspicious. Transfer the slides to a new hospital – precancerous cells. So we come back every 6 months we are told. Kicking and screaming, I wanted more. More reassurance that when we come back in June my little girl won’t have thyroid cancer. There is no reassurance. just reality, and appointments. June 14th – tick tock.
And her AVM (Arteriovenous Malformation) that mangled web of veins and capilaries in her knee because something went wrong off the femoral artery in the leg – well we can thank Cowden’s for that too. Four surgeries later they still can’t fix it. Said there is a leak in the artery. A small one they say, as if I should feel better – like the leak in a tire. It’s slowly bleeding into the knee joint, causing its evil damage while we wait to see if the doctor 5 hours away can fix it. Celebrex masks the pain, and a low dose of xanax puts her to sleep at night. New images the last week in June will determine the rest of what her summer holds.
So I try not to be angry, as I read the new studies. 85% lifetime risk of breast cancer, 35% risk of thyroid cancer, 28% risk of endometrial cancer, 9% risk of colon cancer, 33% risk of kidney cancer, and 6% risk of melanoma. Those are only the ones to be named. The PTEN gene, responsible for Cowden’s Syndrome and a few other disorders is the tumor suppressor gene. It regulates cell growth. So since ours is broken- tumors grow. Benign and malignant – they grow. And its our job to seek them out, find them, and remove them – before they hurt us.
Vigilant is the word I use. We remain vigilant, about every body part. And I am watching for the both of us. Spending hours at doctors appointments, checking. Explaining the syndrome to doctors who have never heard of it. What are the odds of two 1 in 200,000 conditions sitting in your office at the same time?
Saturday we go to the local endocrinologist with my daughter. Her nipple hurts. Really hurts to the touch. She has already had one breast sonogram that was deemed “normal,” but how can we be sure? Everything has to be checked. Is it normal development? Is it supposed to feel like that – or is there some evil tumor lurking? I thought I was paranoid. Actually I hoped I was paranoid, until I met a mom online whose 8 year old had stage 1 ovarian cancer. That 8 year old is 22 now, because her mom was vigilant.
So that same vigilance led me to the decision of prophylactic mastectomy earlier this year. Mom is a breast cancer survivor, and I had had 7 suspicious biopsies over the last 14 years. That’s it. With an 85% lifetime risk, my chances were imminent. So I went for an MRI on February 1st, just to confirm I was “clean” and had the double mastectomy with immediate implants on March 5th.
On March 13th the pathology report that was handed to me by the surgeon read “Ductal Carcinoma in Situ.” Along with all sorts of other scary crap – I had breast cancer. I had it, and I never knew it, and the MRI never saw it – but it was gone. I hugged the little girl whose diagnosis saved my life. I took a great big deep breath, and began to like those silicone implants. One battle against Cowden’s Syndrome – won.
On May 16th I have a hysterectomy scheduled. A forboding looking polyp found its way into my uterus. Risk of endometrial cancer is too high to take chances. So out it comes – all of it. I can only hope and pray that the same results come through on pathology. Either it was benign – or it was so contained that it is over. No worries. For that sigh of relief I have to wait a few more weeks.
So this is it. Life with Cowden’s. I won’t let it define us. I won’t let it become who we are, but it is a definite part of us. It factors into every decision we make. My girl is wise beyond her years, and already asks questions like – when will I have to have my “boobs cut off?” and “will my kids have to go through this?” Questions I can not answer, because I just don’t know. My husband, her Daddy is a godsend – keeping the mood light and the laughs flowing. We have no idea what tomorrow will bring, but I guess neither does anyone.
Maybe the fact that we know about this disease, about these risks, will be better in the end. Maybe, just maybe, one day this will all make some sense. One thing is for certain – we will stay vigilant. That is for damn sure.
beatingcowdens 