I brought my husband. Well, technically he brought me. And he lugged the giant contraption down the stairs and into the back seat of our “big enough for most things, but not this thing” Sonata.
The screen on his iPhone had cracked and he needed to go to Apple. I needed an outing worse than a puppy who has been crated too long.
He dropped me off at the door. He rode the scooter through the parking lot to meet me. Apparently, like so many other things, its a LOT more fun when you don’t need it.
I laughed in spite of myself at the sight of it. I was also glad our teenager had decided to stay home. The sight of it all would have likely been just too much.
People stare right at you, while simultaneously judging you as you drive this thing. The local mall lacks the tolerance of Disney World. In fairness, from face on, it looks like you’re using wheels for fun. It’s not until I have passed, if they bother to look, that they would see the giant walking boot resting on the knee pad.
Today is 8 weeks and 1 day since I’ve been “booted” again. 57 days.
I have had more surgeries in my life than I can count. Not a single one of them kept me down for 8 weeks. This foot has been messing with my life for over 8 months.
Double Mastectomy – back at work in 5 weeks.
Hysterectomy – back in 2 weeks.
I once had arthroscopic knee surgery over a long weekend, and was back on the 4th floor in my classroom the following Monday.
Vascular, over the February break…
Biopsies, a day tops…
We always say recovery pain is the best kind, because you know it’s going away.
And yet the answer to “Does your foot feel better?” still remains “Not really.”
My kind and compassionate local podiatrist, in a combination of frustration at the injury that won’t heal and my insurance company making it harder for him to treat me, has advised a visit to Hospital for Special Surgery. I’m sitting. Foot up, phone in hand, waiting to try to schedule.
I rode that knee scooter all over the mall. I rode it into the grocery store too. Quite simply, I’m tired of being locked in my house. It is truly a ridiculous and ingenious contraption.
If you asked me 2 years ago if I would ever… the answer would have been “NO WAY!”
Except if I keep learning anything through these years of life with a rare disease, and also just life, it seems to be” never say never…”
I had a boatload of things I wasn’t going to do as a parent. I’m pretty sure the first one was undone about three hours in… right after the anesthesia from that c section wore off…
Wasn’t going to… feed certain things, watch certain things, give certain things, etc. etc. And then you find yourself learning that all the plans in the world are suddenly invalid as you just try not to damage the tiny human.
A great deal of my pride was left behind in the OR where she was delivered.
I lost a bunch more of it through a slew of breast biopsies prior to the double mastectomy in 2012.
The uterine biopsies, the hysterectomy, the “cancer screening” human exams took a bunch more.
And there are few things quite as humbling as a breast MRI of your silicone implants.
I was never “in fashion” but I used to take great care in what I wore. Things were dry cleaned. Stockings and heels were worn daily.
Then there was back pain that seemed only better in sneakers. Coupled with a significant weight loss my wardrobe evolved into jeans, t shirts and sneakers. May be a dig at my early judgment of “too casual” teachers…
Life, at it again…
If we are open, and able to be introspective, we are changing and growing all the time.
I am in a painstakingly slow process of relinquishing control.
Control is really largely an illusion anyway.
Faith, trust, hope, and the ability to embrace what the future has in store, these are my current goals.
I’m a work in progress.
So if you see me and my knee scooter, be kind. You may even see me up and down the block. These are, after all, desperate times…
We’re done being caged up. I need some fall air. I am ready to get well. Since my foot isn’t cooperating, I’ll start with my mind.
And that might be an accurate description of my current assessment of living with Cowden’s Syndrome.
It’s so hard to put into words. Those who don’t understand are likely to think I’m insane.
When you know your mission, you carry it out. You are driven. Focused. There is something that needs to be accomplished, or an adversary beaten. You have a crystal clear goal.
As difficult as those moments have been, I am starting to find the ‘forever’ aspect of this syndrome to be overbearing at times.
Some days it seems no matter which hurdle we clear, something else is in the line of fire.
I waffle between doctors who are either not interested, or are so overworked that they lack the time, energy, or desire to research and think from the alternate view required for a 1 in 200,000 mutation on the PTEN (tumor suppressor) gene.
Research. Real research (yes, I am smart on the internet and know what to read and what to brush off,) is surfacing so often that it is hard for me to even keep up. I don’t expect my doctors to be on top of it.
I expect them to treat me as a partner in my own care.
They have gone to medical school. I have not. However I have more extensively studied Cowden’s Syndrome than they ever will. And I still have a great deal to learn.
Gone are the days when “doctor knows best,” and I should comply without question or explanation. This is my life. This is my daughter’s life. And wherever I can assist, I intend for those lives to be long and strong – physically, mentally and emotionally.
Tuesday the 26th was my “doctor day.” It became a necessity years ago that I take a personal day and “stack” my annual appointments. This makes the day out of work worth it. Some years things are smooth. Other years, well… not so much.
After a fall at work in January, where my 5 foot 7 frame ever so gracefully landed on my right shoulder and implant, I have been uncomfortable. The implant that was previously easy to ignore was prevalent in my thoughts all day. It is not ruptured, and I was able to get MRI confirmation of that. However it is just annoying. It sits slightly off place, a constant reminder to my brain and body that it is THERE. I am grateful it is not painful. I am not content to live with this situation indefinitely.
My discomfort, and the knowledgeable people I share some Facebook support groups with, let me down a path of research on silicone implants.
I learned a whole bunch of things. Most of those things are probably inconsequential in my life, but they made me angry. I had double mastectomy with immediate implants in 2012. In 2016 the implants needed to be replaced way ahead of schedule. (With a maximum of about 10 years on average). I had one breast surgeon and two plastic surgeons.
No one spoke to me about a condition called BIA-ALCL (breast implant associated anaplastic large cell lymphoma). The risk is minimal, but it exists. No one ever talked to me about it and allowed me to make an informed decision. We have a rare disorder that predisposes us to greater cancer risk. No one has thoroughly studied the occurrence of BIA-ALCL, and certainly no one has considered it in relation to PTEN Mutations. No one knows. But, I deserve the uncertainty discussed.
Further down the same page is the screening recommendation that women are screened via MRI for silent rupture 3 years after the first implants, and every 2 years following.
There are other pages. Solid articles. But if you read the above link you get the point.
So I saw my breast surgeon first. All was good on exam. That was a relief. I began a discussion about the above, and was really upset by her flippant response. I was told I was reading too much on the internet. I was told that there was no conversation about possibly removing my implants. Granted this is not something I was ready to do tomorrow, but it was something I wanted to learn about. I was told I would be subjecting myself to unnecessary surgery and she would counsel my plastic surgeon against even entertaining it.
I honestly felt like I had been hit.
I asked her what her thoughts were on BIA-ALCL related to Cowden’s Syndrome. She had no answer. I asked her how many PTEN patients she sees. 20? No 10? No 5? No, less than 5.
I asked about screening MRIs. I was told they were “unnecessary”. I referred her to the above link.
I could not believe that I sat in the middle of a major cancer center in New York City. I felt violated and angry.
Next came my oncologist.
She is a kind woman with very few answers or helpful tips on risk management. She pretty much looked up Cowden’s and checked that I have no breasts, no uterus, and half a thyroid, so I should be easy to manage. I asked her questions about bone density,and heart health, (30 years of thyroid replacement, 7 years into forced menopause) and she simply said, “I don’t know.” I asked about the lymphangiomas on my spleen that currently outsize the spleen itself. She started to talk to me about spleenic “cysts” but I drew her back to lymphangiomas and the vascular component that often affects PTEN Patients. I have not desire to lose my spleen, nor do I have a desire to harbor a potentially destructive organ. We settled on a bone density and an abdominal sonogram to measure the lymphangiomas. At least this makes sense to me.
Off to the otolaryngologist with a hopefully not PTEN problem. He did vocal cord surgery for me 2 years ago to remove some growths. This day the vocal cords were clear. The right ear however has been an issue since September. I spent a bit of time treating for migraine, and blaming the chlorinated pool spectator sections. I had 4 doctors prescribe antibiotics when they saw fluid in my ear, and another a short course of steroid. All cautioned me about hearing loss. I regained my sanity to some extent when a friend gave me Mucinex sinus max. Something about it helped the pressure. The doctor got a look in my ear and used his camera to show me the fluid inside the right ear that is not draining. He also looked deep in the ears and told me something was “off” with the ear canal. But that was as far as he would or could go. He gave me the name of a doctor to treat me. He also told me to get a hearing test, and to understand that they must find a cause prior to any treatment. April 18th was the first I could get. Mucinex for all till then.
The endocrine surgeon came into my world post diagnosis in early 2012. I believe her function was to evaluate regularly the remaining 1/2 thyroid, as thyroid is one of the greatest PTEN related cancer risks. My thyroid was partially removed in 1993 due to a diagnosis of “multi nodular goiter.” At the time, the prevailing wisdom was to leave one of the lobes intact and suppress it with high doses of synthroid, keeping the TSH (Thyroid Stimulating Hormone) low. For years I operated with a lower than normal TSH, but it worked for me and seemed to keep the remaining tissue quiet.
When I was diagnosed and my team changed, so did some of the management theories. This endocrine surgeon, who was only managing my medication as a courtesy, not as a regular practice, preferred a slightly higher TSH level. We jousted a few times about fatigue, and other side effects that come with adjustment. We had made peace on a split dose, until I had my levels measured in January and they were WAY to high for my physical comfort zone. After my initial glee that I was not totally losing my mind, and that I needed medication, I started to wonder why the level change. My weight was consistent…. my activity level consistent…
She did a routine sonogram of my neck in the office. For the first time in 7 years she paused. “There are small calcifications. They were not there before.”
I asked about a biopsy and she told me she would not even know what to biopsy. She’d be “guessing” as the thyroid bed is undefined. She said she wanted me to consult with a colleague who is an endocrinologist well versed in molecular genetics. She told me it was no rush. She was going to Email his staff, and I could reach out when I have a school break in April.
That was Tuesday afternoon.
Wednesday morning I received a call that it was suggested I book the first available appointment. I did so for March 12th.
I was told to obtain an ultrasound for basis at a local facility.
Thursday morning the phone rang again directing me to get the ultrasound at the hospital before I see the doctor.
Things seem to have moved from very casual, to lets not dawdle, quite quickly.
I’m not emotionally attached to too many non-essential organs anymore. I’m vested in getting anything out before it causes me trouble.
Life is a juggling act.
I have plans.
Doctors appointments get in the way.
I know people who use sick days to vacation. I use mine on the Gowanus Expressway.
I want to get it together, and see people. I want to have casual conversations and catch up on people’s lives.
I will. One day.
But for now the energy remains focused on a kind, lovely, compassionate teen, and keeping these two “Rare” ladies in their best health.
Oh, and that fall in January left me with a pain in my right foot that just won’t quit…
Recently I asked that Meghan’s “Present Levels of Performance” on her IEP be updated. She no longer receives many services, but I find great value in keeping this section current.
There is a great deal of misunderstanding involving Individualized Education Plans (or IEPs) and many people feel only children who struggle academically have an IEP. This is just not true.
My daughter has had one in place since Kindergarten. She has consistently maintained high honors, and as a matter of fact was Salutatorian of her 8th grade class, and is in an intensely challenging International Baccalaureate program at her high school.
IEPs by definition, are to “Individualize” the Education Program as needed. Meghan’s needs are not academic, as much as they are residual connected to the Cowden’s Syndrome, the PTSD, and the medical trauma. The resulting anxiety affects every area of life, and is far deeper than “teenage angst.” We work extensively outside of school to address this in many ways, but sometimes we need the school to be on the same page.
Much like you give a medical history to a doctor when you see them for the first time, and you update as situations change, the IEP is to be fluid and updated as changes occur so all personnel will be aware of Meghan’s needs.
I make a habit on the first day of school of copying a few key pages of the document and giving it to her teachers. Even though they have access, and technically it is their responsibility, I am also a teacher. I get the pressures placed on us. So, I make their lives easier by giving them what they need and an invitation to reach out to me with any questions. Her teachers are historically receptive and appreciative.
This year I was reviewing that section on the document realizing how much was no longer accurate, and how it should be more detailed.
I sat with Meghan to write the summary below:
Meghan is a 15-year-old sophomore in the IB program at School. Academically she is consistently above average in her classes, attaining high honors every marking period for the 2017-2018 school year.
She is a student athlete as well, participating on the School varsity swim team, as well as Trident Aquatics, a 12 month competitive swim program on the Island.
Meghan has several medical diagnoses. The most far-reaching is “Cowden’s Syndrome” a mutation on the PTEN (tumor suppressor) Gene, causing benign and malignant tumors as well as vascular malformations. Recently PTEN mutations have been correlated with low levels of (infection fighting) immunoglobulins, which Meghan also suffers with.
Because of the low immunoglobulin levels Meghan has frequent infections that often require antibiotics for resolution. She suffers with gastrointestinal distress with each course, and needs to avoid gluten and soy. She also has an allergy to dairy.
Meghan’s medical challenges are far-reaching. She has had 18 surgeries, 8 of which have been on her right knee. There was an arteriovenous malformation (AVM) in that knee. While it has been controlled, the long-term effects will last forever. Meghan has leg and foot discrepancies on her right side. The blood was restricted from flowing to her right foot for so long, that it stopped growing 6 years ago. The left foot is a full size larger than the right foot. That right-sided weakness has been repeatedly treated in physical therapy, but still presents as a struggle with stairs, and long walks. While she endures these activities, they can cause pain and excessive fatigue, and extra time may be necessary between classes located far apart.
Meghan had her thyroid removed in 2014 and the resulting need for synthetic medication has yet to be regulated. Her current endocrinologist follows her 4 times a year, adjusting, tailoring, and trying to balance her levels.
Meghan had 2 D&C procedures during 7th grade. Those procedures yielded precancerous tissue in her uterus and prompted the need for birth control pills to try to stop the cellular growth. Those pills have also been difficult to regulate and balance.
Meghan has been hospitalized countless times in addition to her surgeries. She has also undergone over 30 MRIs and close to 10CT scans, each requiring IV. She spends countless hours being poked and prodded at doctors, monitoring her cancer risks. She is acutely aware of her mortality at an age when most teens are barely aware of their social interests.
In the spring of 2017 Meghan was diagnosed with Post Traumatic Stress Disorder, secondary to extensive medical trauma. She was also diagnosed with major depressive disorder.
In the fall of 2017 Meghan began to develop panic attacks. Subsequently, she has also been treated for panic and generalized anxiety disorder.
She sees a social worker weekly and has guidance on her IEP in school. She sees a psychiatrist monthly who manages the medication, which currently consists of and antidepressant and another script for panic attacks.
The panic attacks were well controlled for a time, but flare up in acute anxiety. This summer saw several severe episodes. We are working together to help her through all of this.
Meghan is waiting for a service dog, which should arrive in the next 4-6 months, to address the PTSD. In the mean time, we are teaching strategies to deal with necessary stress, and tools to eliminate unnecessary stress.
I presented this document to the team to update the IEP. I was a little startled when I was met first with a challenge on the diagnoses. No problem I told them. I would send the doctor’s notes.
I love her school, I do. But, I was in fact also told “She doesn’t LOOK sick” and “She doesn’t LOOK stressed.” While I had to breathe a few times before responding, I came up with “You’re welcome…”
We’ve worked quite hard on all of that. My girl has goals. Life goals.
Last week Meghan was approached to remove the section regarding the D&Cs from the document above. She declined. She was pushed, and told the information was “far too personal.”
Forever practical, Meghan reminded them the document was about her, and should include factual information.
Again pressed, she reminded the staff she helped write the document they were holding. She wanted and NEEDED her teachers to understand the validity behind her anxiety and PTSD symptoms.
The final time they told her the information was too personal she reminded them that she had done nothing wrong, and had nothing to be embarrassed about. Meghan is a factual child. She likes actual truth being reported. She knows better than to be embarrassed about truth. She knows ugly truth is a real part of life with Cowden’s Syndrome. She also knows that secrets give power to things that don’t deserve it.
These things happened to her.
She did not ask for them.
She did not cause them.
She will not hide them.
She will not apologize for them.
She will not let them define her.
But the things that happen to us do change us. HOW they change us is the only thing we can work to control.
I will continue to work the Mom end to get this updated.
I am beyond proud of her growing confidence, and her desire to educate.
I am proud of her desire to be a scholar and an athlete in spite of all the adversity.
I am proud of her respect for the clock as she grows as a swimmer, and her desire to be the same as everyone else, by beating the same clock.
My girl is, and shall remain
And that is why we continue to work on the journey towards treatments and a cure.
Please consider joining us or making a contribution. You can reach us at firstname.lastname@example.org
Sadly, it was not to enjoy the almost 60 degree February day.
Today was doctor day.
And as I traveled two hours for the 17 mile trip into Manhattan this morning, I had plenty of time to think about World Rare Disease Day, tomorrow, February 28th.
Rare Disease Day 2018 will pass for us unlike the last few. In recent years my family, spearheaded by my daughter, has held a sizable fundraiser to draw attention to Rare Disease Day. Our goal was always to raise awareness and funds to support research and treatment of our Rare Disease through the PTEN Hamartoma Tumor Syndrome Foundation. My girl needed some time off to address some things on her mind and heart. I gave her that time. She is still working hard, but she has already expressed an interest to join me in planning an event in October of 2018. Stay tuned.
While I was driving, I thought a lot about RARE. It has so many connotations.
Sometimes I think of snowflakes, and rainbows, and unicorns. I think of pleasant, beautiful things. Some of the buildings on the skyline look rare. Rare can be a thing, a sight, an action or even a feeling.
Quite a list, right? And, if you really look with an honest eye, not all of them have super positive connotations.
Strange, uncommon, unthinkable, unusual, deficient, flimsy, tenuous, (and no this isn’t a typo, but I had to look it up) unwonted…
These are not the words you’d use to describe a beautiful natural event, and probably not the words you’d pick for a dear friend.
Yet, these words also mean RARE.
I set out today to get screened by 3 of my many specialists. The cancer risks with a PTEN mutation are almost astronomical. It becomes a game of “when” not “if” in so many cases, and the vigilance required to seek out the cancers so they are detected early can be overwhelming. Lifetime risks for breast (approximately 85% as compared to 7%), thyroid approximately 30% to .9%), uterine (approximately 28% as compared to 1.7%), kidney(approximately 24% as compared to 0.8%) and melanoma (approximately 6% as compared to 1.1%) eclipse the general population. (These numbers were midline from a graph in this link) www.myriadpro.com/services/clinical-summaries/gene-pdf.php?gene=pten&allele…
The risk of recurrence is also great, and that of developing a second, primary site cancer is also noteworthy. So, having had a double mastectomy with a great prognosis, does not eliminate the need for biannual screening. I love my breast surgeon. She is one of the best. She and I are both always pleased when she can tell me everything is good.
But, I held onto her a little longer today. I told her I was in the market for an internist. I need someone to play “case manager.” I need someone to be my doctor. She paused and furrowed her brow a bit.
That isn’t an easy request, she told me. I said I just need someone willing to learn a little, and consider that I don’t fit in a “box.” I need someone who will partner with me. She told me she’d led me know if she thought of anyone.
I’m not hopeful.
I waited down the hall for the hematologist/oncologist. When she was an hour late, I walked the half mile (in jeans and compression stockings from Wednesday’s surgery) BACK to the main hospital to see my endocrine surgeon.
She may be the weakest link in my chain right now. She scanned the remains of my “lumpy, bumpy” half thyroid that the surgeon 25 years ago thought would be an asset to me. She scanned a very slowly growing lymph node in the area that went from .6mm to .8mm. She told me to get some blood drawn and that all looked good. I showed her a recent chem panel. She pointedly ignored every out of range number, and zeroed in on the calcium level. “Good.” And she handed me back the papers. Then she ordered a short-sighted list of thyroid labs that I would never tolerate for my daughter. I was out of her hair in 15 minutes.
I walked back to the cancer center thinking “rare” thoughts.
I waited again for the oncologist, who was as always pleasant and happy. She examined my spleen, and what she could feel of the 4 hamartomas that live there. She felt nothing out of the ordinary, and ordered my abdominal sonogram.
I showed her the same chem panel I showed the endocrinologist. She agreed the irregular labs should be repeated, but did not feel concerned. I asked her about an internist.
She froze. She suggested a new genetics person that had recently come to the hospital. I may go for a consult.
But, and internist? I asked again.
Hesitation. Almost painful look. She explained that the internists have to move fast. They don’t really have time to get to know a new condition. She couldn’t be sure if she new any that would care properly for me. She basically gave me 4 names, but told me I was best left to do it myself.
Even though my rational mind understands it to a degree, I felt like I’d been punched in the gut. I have homeowners insurance, auto insurance, and life insurance, just in case. I have a 401K and am part of a pension system. I do my best to prepare. And I was basically told, by a major NYC hospital, that I stood little chance of finding an internist who would take the time to manage my case.
That scares me. I do it. I always do it, and I will continue to do it. However, I am managing health care for myself and my teen. And it’s not just routine stuff. Cancer is looming, lurking, and mocking us. All I want is someone to check behind, proofread per se, and make sure I am checking all the right boxes. I want someone who will know that a test result in us may not mean what it does in someone else. I want someone who looks me in the eye and knows I am a human who plans to live a long time even though her body doesn’t play by the rules. I want a name to put on the line every time someone asks me for my “primary care” doctor, and I want that doctor to at least glance at every pertinent paper sent to them about my health.
I got my blood drawn at the hospital lab.
It’ll be in the online system long before anyone ever discusses it with me. I’ll scan it, and hope that there are no alarm bells to be sounded this time.
RARE isn’t just snowflakes and unicorns.
RARE is that kid, who everyone looks past. The one without the cool clothes, or the right hair. RARE is the one who no one wants at their lunch table, and the one who is conveniently forgotten on fun excursions. Because, what it RARE can’t do what everyone else can? And anyway, truth be told, RARE has cancelled one too many times. RARE doesn’t really fit in anywhere. RARE is brushed aside, in hopes they won’t bother anyone, or maybe they it go away. People are afraid of RARE. They perceive it as fragile, needing too much effort, or too hard to understand. Sometimes people even envy RARE, without thinking through the late nights, the terror, the medical strategies, the constant advocacy. RARE wants to fit in, but it never will.
RARE is too much new, and too scary for a doctor to own more than one piece.
We are scared of things we don’t understand.
Right now, RARE is a bit of a loner.
We are all RARE in some way.
But, RARE as a lifestyle is not an easy road. And it is not a choice.
The choice comes in what we make of it.
Rare Disease Day 2018 will be a little different this year for us, a little more quiet. But, I hope there is no doubt, that we will come back.
Meghan recently had a drama assignment where she had to write a monologue on non-violence. The teacher appreciated her perspective, and I think it speaks to the long term effects of rare disease, and chronic illness.
I’ve added nothing below…
“A physician’s guiding maximum is non maleficence. Non maleficence means ‘to do no harm.’ And, I guarantee you that screaming at an 8-year-old and burning her neck, all while sticking needles through it, qualifies as the opposite of non maleficence.
Then, I was a scared 8-year-old who just found out she had a rare genetic disorder. Now, I’m a 14-year-old with PTSD and a rare genetic disorder that has caused a lot of hell in my life and is never going away.
As I look back at this biopsy, I realize many things. One, I’m positive this first medical trauma led me to be fearful of all the medical challenges that have befallen me. Also, I realize that my deathly fear of needles and my PTSD originated on this day.
If this doctor had used a non-violent tactic during this procedure, which isn’t pleasant anyway, then maybe my journey would have gone a different route. Maybe I wouldn’t to this day walk into a doctor’s office, see needles, and have my heart jump into my throat.
People don’t realize that actions that may seem small to them can have a big effect on someone’s life. As I think back, I realize that if this one doctor had practiced non-violence, then my preconceived notions of pain and fear every time I walk into an examination room might not exist.”
Tonight my search for perspective was harder than it normally is.
Tonight I needed a glass (or two) of wine, some time alone in my office, and plenty of music.
And as the lyrics roll through my head in the eclectic mess that spans, Contemporary Christian, Classic Rock, and some alternative memories from back in the day, I somehow start to find myself again.
I am generally a very positive person. I am able to find blessings in unlikely and hard to reach places. I make a point of focusing on these things for so many reasons. Primarily, I find it is necessary to be positive for my health. While I don’t believe a positive attitude alone will cure illness, I do firmly believe a negative one, or a constant state of stress and worry can worsen illness. We certainly don’t need that.
But, lately I’ve been frustrated. I’m even a little angry. You see – everything is NOT fine.
And I’ve been avoiding my computer because I’d rather write when my perspective is in its proper place. One of the reasons I love to blog is because I can get right in my head by the time I’m done. I can typically work through whatever is gnawing at me.
There are drafts in my folder. Unpublished, unfinished work. I’ve tried, but I’m struggling.
Logic leads me to retrace the obvious.
In our house the diagnoses came about five and a half years ago. I was 38 and Meghan was 8.
In most of the people I’ve interfaced with who have Cowden’s Syndrome, their diagnosis is less than 10 years old. I know there are others, but this is the majority.
There is a growing group of us who are parents. Now, in my case, my diagnosis was made BECAUSE of Meghan’s. But, in many cases the opposite is true. There comes a point where the signs are either apparent, or subtle, and something prompts the formal diagnosis of PTEN Hamartoma Tumor Syndrome, in some form, in our children.
Anecdotally, we are not the only house where the syndrome seems to manifest worse a generation down. This is a story I have heard many times.
There is a special kind of knot that forms in your stomach and lingers, forever, when you realize that you are somehow responsible, in an unintentional, yet undeniable way. Your child has this syndrome because, even with a current estimate of a 1 in 200,000 diagnosis it is an autosomal dominant condition, which means that if you have the mutated PTEN gene, 50% of the time, it will pass to your child.
Between us, since Meghan was born in 2003 there have been 30 or more trips to an operating room. On 18 of those visits I have watched my girl head into surgery.
And I know all the blessings bestowed upon us. I know the beauty of benign biopsies, and the gratitude of legs that allow for walking when the alternative has certainly been possible. I know the strength and resilience of my daughter, and the grace of God alone. I know the grit of a child just out of her 7th knee surgery who understands the recovery process better than any PA she will meet in the surgeon’s office. I know the feeling of bruises on my knees as I give thanks for my child who is ABLE to recover. I get it. I truly do. I’m grateful. I am.
But, you know what else? Sometimes I get angry. And, that’s OK too.
I’m learning that part of being able to be positive is allowing myself to FEEL and WORK THROUGH ALL the emotions that come my way. Even the ones that hurt. Even the ugly ones that don’t have flowers and rainbows attached.
This is reality. This is our reality. And I am not about comparisons. I do not profess to understand anyone else’s reality any more than I could expect them to understand mine. I do not use words like “worse” or “better” or “harder” or “easier” or “fair” or “unfair.”
What I can tell you about our reality is that 18 is too many surgeries for a 13-year-old girl.
I can also tell you there will be more. For both of us.
Vigilance, a necessary reality to keep us in front of the astronomical cancer risks associated with Cowden’s Syndrome will lead to more surgery. And we will hope and pray each is followed by a benign biopsy, or an encouraging word from an orthopedic surgeon trying to preserve a knee damaged by a mischievous AVM.
When I got my diagnosis, I was almost 40. I was married. I had a little girl. I had a home. A career.
When my girl received her diagnosis she was in 3rd grade.
It doesn’t taste very good.
Cowden’s Syndrome is isolating. In addition to numerous food issues, and immunological issues, and significant knee trouble (understatement of the year,) there are SO MANY doctor’s appointments. There are countless blood draws. There are so many days I pick her up at school and we do ANOTHER 4-5 hours round trip in the car, traveling to NYC, sitting in traffic, parking, waiting, sitting in more traffic…
As connected as social media can help you be, there is a lack of connectedness that is inherent with not being there. Being absent. Being unable to go on certain trips. Being unable to do the things kids your age can do…
When I was a child I always “knew” something was wrong with the ridiculous number of surgeries I had, but it was different. It was not the same as knowing for sure that your genetic mutation was going to guide portions of your life whether you like it or not.
When you have one thing wrong, whether you break an arm, or have your wisdom teeth out, or your tonsils, people seem to know what to say. When you constantly have something wrong, some type of surgery, or some type of recovery on the agenda, it gets harder for everyone.
People don’t know what to say. So they don’t…
Cowden’s Syndrome can be very isolating.
What about our children? What about our children who are being diagnosed younger and younger? To some extent, yes, “Knowledge is Power,” but at what cost?
We are forced to make the logical choice for necessary screening appointments, and often surgery, while often having to skip social, cultural, or sporting events.
We are forced to say no to social engagements so often, that people forget to keep asking.
Our youngest children at diagnosis may not fully understand the scope of what is now their’s. But, they will. If they have a parent with the same syndrome they will watch. Everything. If they are the first in the family they will piece it together. Really there comes a point there is no keeping it from them. Then what?
I am blessed with a young lady who reads like a book-worm, and has a solid comprehension of people, personalities, and her environment. I am left only with the option to tell her the truth.
Sometimes the truth gets stuck in your throat, burns a bit, or leaves some nasty reflux. Yet, still that bitter pill is the only one we’ve got.
I sometimes wonder how different things could have been, if…
But it is my girl who stops me. Without this diagnosis she knows I would not be here. My breast cancer was uncovered by her diagnosis and that diagnosis undoubtedly saved my life. Without Cowden’s Syndrome she knows she would have become someone different. Someone else. And that wouldn’t have been right.
While I don’t believe in a God who wants us to suffer, I believe in one who uses that suffering to allow us to become a better version of ourselves.
My girl started Junior High with a broken foot. During her 3 years there she endured less than perfect social relationships (read, a few very mean children and my child who didn’t always have the patience to contend with teenage normalcy) and 7 surgeries. SEVEN. Seven recoveries, and pre and post operative visits too. She did that while holding an average of well over 95% every single marking period. She did that while making enormous strides as a competitive swimmer. She did that while learning that she had a the voice of a singer hiding inside. She did that while performing in several productions, practicing after school for months each year. She did that while spearheading 3 successful PTEN Fundraisers, essentially putting Cowden’s Syndrome in the vocabulary of our community. She’s ending Junior High on crutches. Unfortunate bookends, or a reminder of the strength and resilience of a young lady who refuses to be defined by her disease.
I am sometimes not even sure if she is aware of her accomplishments, as she is so busy pushing onward to stop and notice.
Who sets the example here?
I guess I need to stop hiding from my computer. Perspective never really leaves. Sometimes it just needs to be worked through.
This diagnosis stinks. This syndrome is a real bear to contend with. It is lonely and isolating and leaves little time to even see family, let alone friends. However, as the saying goes –
And that is probably the real perspective.
And almost as if perfectly timed, I found my title for this blog – as the Pandora radio plays..
“They are inside your head You got a voice that says You won’t get past this one You won’t win your freedom
It’s like a constant war And you want to settle that score But you’re bruised and beaten And you feel defeated
This goes out to the heaviest heart
Oh, to everyone who’s hit their limit It’s not over yet It’s not over yet And even when you think you’re finished It’s not over yet It’s not over yet Keep on fighting Out of the dark Into the light It’s not over Hope is rising Never give in Never give up It’s not over…”
I have stayed out of politics through the entire tumultuous 2016. I have serious issues with many politicians. I am not here to talk about them directly. I am here to talk about an issue that transcends political party affiliation. I will not engage in a debate about Democrats or Republicans, or the should have/ would have/ could have game that people like to play with each other.
This is far more serious, and more important than any of that. This is about my daughter. It is about her life. Her future. And, it is about the lives of millions of American citizens, myself included.
I will concede that there are problems with health care in America. I will even agree that healthcare the way it exists today needs change. However, when I look at a situation that needs change, I think it through carefully. I work through every detail. I weigh out repercussions and ramifications.
The Bill that passed the House today, in my opinion was put together in an attempt to score a “win” for our President.
When millions lose. No one wins. That’s not just the math teacher in me. That’s real.
Three years ago I was in a car accident. It was a terrible situation, and I was T-boned at an intersection. I will contend to my dying day that the truck that barreled through me was speeding so fast it never should have made it to me before I cleared the intersection. I had the stop. I stopped. He never saw me and it took almost a block, in a school zone, for his truck to finally stop moving. Because the stop sign was mine, I was assessed with most of the fault for the accident. It made me furious. I was told speeding could not be “proven” despite the absence of skid marks. The other 6 accidents that happened at that intersection in the months preceding were not helpful either. In the end, I was grateful for my life. I walked away and took the penalty on my insurance. I paid that accident penalty for three years. And, while it did not make me happy, I did it. The accident penalty was annoying, but affordable, less than $200 a year.
The car accident happened once. It might happen again, but it will not happen regularly. I am 25 years driving, with one accident and no moving violations. I have proven I am not a reckless driver. I have control over that. Full control, and I take my driving very seriously.
I also take health very seriously. Unfortunately, there are aspects of my health I do not have full control over. My daughter and I have a rare genetic disorder called Cowden’s Syndrome. She is 30 years my junior, and at 13 and 43 we have seen the inside of an operating room close to 45 times combined. Cowden’s syndrome causes tumor growth. It carries with it an astronomically high risk of many cancers, most notable breast, thyroid and uterus. It carries also significantly elevated risks of kidney, colon, skin, and other cancers. Many of our tumors are benign. Some are not. The only route we have to long term SURVIVAL is constant surveillance.
Many doctors recommend surgery to remove things that are high risk. Thankfully, that suggestion proved life-saving for me in 2012 when a “prophylactic” bilateral mastectomy revealed stage 1 breast cancer. I was fortunate.
Two months ago I had surgery to remove a benign tumor from my vocal cords. It was impairing my ability to breathe and speak.
In 16 days my daughter will undergo the 18th surgery in her young life – the 7th on her right knee. Cowden’s Syndrome carries a high correlation to vascular malformations like the Arteriovenous Malformation (AVM) that grew in that knee. After 6 embolizations to curtail the blood flow, she now deals with the repercussions of having blood lingering in the knee. There is wearing away of tissue causing the patella to shift. There is extreme pain, not just in the knee, but all through her body. Her right foot stopped growing years ago, but the left one kept at it. Now a full size apart, different in length and width, her 5’8″ frame feels the repercussions with every step. She is regularly at the chiropractor in attempts to minimize pain medication and keep her in alignment. Pain medication caused such GI distress in 2014 that she spent a week in the hospital. Cellular changes in the esophagus are not good in anyone. At 10, with a condition that causes tumor growth, it was certainly another wake up call. We gladly purchase 2 entirely different shoes every time she needs a new pair. We are grateful she walks.
That is just the tip of what this child has endured in under 14 years on this earth. She has had her thyroid removed with 19 nodules and suspicion of malignancy at the age of 10. We still work to balance levels synthetically. She had had TWO D&C procedures to eradicate suspicious tissue in her uterus. She has had a lipoma removed from her back and vascular malformations from each palm. She has lost her gall bladder. She fights, stands up. Moves forward, and gets smacked in the face again.
Soon after our diagnoses in 2011, another mom told me Cowden’s Syndrome requires vigilance. I got it. I am on it. All the time. And with the GRACE of God alone, we are walking the path the best way we can.
We average between 6 and 10 appointments a month between us. The copays and travel costs are often daunting. But, we are fortunate. We have two good jobs my husband and I tell ourselves. We have good insurance.
We are careful with every morsel of food that enters her body. We eat largely organic and non-GMO to let her body use all its energy to stay healthy instead of fighting contaminants. Even at that she is acutely sensitive to almost all gluten, dairy and soy.
We treat as naturally as we can, often incurring bills, as these treatments are rarely covered. Yet, still we prioritize health because we realize its value. And we remember how fortunate we are. We have good insurance. We have two good jobs.
My daughter is awesome. And, not just because she is my daughter. She is a respectful, kind-hearted young lady. She has the voice of an angel. She acts in the plays at school. She reads for fun. She swims passionately. She is an honor student. She talks about her future, and what she will do with her life. I have no doubt she has the capability to make a real difference in this world, regardless of her career path. Today however, I am left to wonder. Will any job ever be enough?
If the AHCA passes the Senate, we will likely be placed in an unregulated “high-risk pool.” This is not like my car accident. This is not a minor inconvenience. This has the potential to decide the course she will have to take with her adult life, as her health issues will not go away. We have this genetic mutation with all its risks and ramifications for life. Lifetime caps, potentially re-instituted will likely be met in her 20s, if not before.
There is no way at all to prove where the mutation came from. I’d ask you to indulge in a theory with me a moment. My father, a Vietnam Veteran was heavily exposed to Agent Orange as a Marine in 1967-1968. My mutation was traced to my father. He never manifested with Cowden’s Syndrome, but somehow passed that mutation on to me. Wouldn’t it be ironic, if that toxic exposure in the jungles of Vietnam, in an attempt to fight for his country, ultimately led to this condition in his daughter and granddaughter? Dad died in 2013, pancreatic cancer that may or may not have been Agent Orange related. I’m glad he is not here to see the reality that our government may be on the cusp of turning it’s back on his family.
I was raised a proud American. In addition to my Dad, I have three Grandfathers who were World War II Veterans. I value the principles this country was founded on. I am grateful for the freedoms I have in this country.
I have not been raised to use the phrase, “that’s not fair,” but I will ask you to consider a few things.
Last night as I watched the news my head spun as I heard elected officials allege that people with pre-existing conditions have not led good lives. I am not here to compare, but I will tell you our “pre-existing” condition has NOTHING to do with lifestyle choices. And if you do not like the site this link came from – scroll to the video. Hear it from his mouth.
I can name dozens of people off the top of my head, as close as within my own family, that would be grossly negatively affected by the establishment of “high risk” pools.
Should a cancer survivor, an MS patient, a diabetic, a person with a brain tumor, a rare heart condition, a genetic mutation, or countless other conditions be forced to make decision on the path their life should take because they are too expensive? Are they less valuable? Do they matter less?
Should we be asked to decide whether or not to keep critical screening appointments, or have access to necessary medication blocked by cost?
We have two good jobs, and this whole thing terrifies me. But, I will not be controlled by that terror.
This post will reach my Senators today. Social media can be used for good. I have a voice. I will not be quiet about this.
Tell your story. And if you can’t find your own words, share mine. Let our Senators know that we are real. We are not numbers. We are not a cost-cutting measure. We have faces, and names. We matter. We all matter.
Irony is spending 20 years wondering why your students sometimes struggle to be quiet, and suddenly, in one week, realizing how insanely difficult it is to be silent, AND, that it’s likely your need to talk constantly is part of the reason WHY you went into teaching in the first place!
Last Friday, March 3rd, this ugly thing was taken off my vocal cords.
And they, like so many other parts of my body, now boast scars.
So, I set up for a few weeks out of work, and a week of required silence. I never actually thought I was ready, which is a good thing. Because I wasn’t.
I do poorly on twitter, Rarely could I get out what I need in 140 characters or less. Absolute silence involved my cell phone in hand at all times. A few times the thing almost learned to fly, as the fingers, and auto-correct could not keep up with my brain. But, life lesson number, oh, I don’t know, 4 or 5, teaches us that life goes on around us. Ready or not. Even when you have to watch and not participate.
There have been many times since March 3rd I’ve been grateful that thought bubbles do not appear above my head.
On the 9th I headed to the city for my follow-up. After learning the pathology was benign, and read only “polyp,” I was relieved. The doctor was pleased with the initial healing and told me I could begin to use my voice. Slowly. He said 5 minutes an hour. That sounded high, based on what the voice therapist had told me in the fall, but I was grateful. I used the first 5 minutes up asking him questions.
I wanted to know whether this was connected to Cowden’s Syndrome. I wanted to know if it was likely to recur, if I needed vocal therapy, and when my follow-up would be.
Apparently, kind as he is, he could communicate on Twitter much more efficiently than I.
Cowden’s Syndrome? I don’t know. There’s not a lot of literature. This type of polyp is usually a traumatic event, something you’d remember. But, you don’t. And it grew really fast. I’m not sure.
Recurrence? Maybe. Depends how it came to be. Be careful with your voice.
Vocal Therapy? Suggested. Start on the 13th. (Whew… THAT I now KNEW I needed.)
Follow up – April 13th, a few days before I am scheduled to teach my first class post-operatively.
He was an outstanding surgeon. Matter-of-fact. Thorough. Efficient. But, I’ve known enough surgeons now to know, they don’t play with why. They just fix it and move on. He will “doctor” me, to the point that he will follow-up, and hopefully watch NOTHING ever grow there again. But, in reality this is now just another vulnerable spot on this PTEN mutated body. Because, I would stake certainty that it’s connected. There just aren’t that many coincidences in life.
So I left Thursday feeling good. I got 5 minutes an hour! I tried out my voice in the car. I tried it out at home. And then, I picked up my daughter at school, and I was so excited to talk to her, I easily let the conversation surpass 15 minutes. oops.
Later when I spoke to my husband I was well past 10 before I stopped.
This 5 minutes and hour thing was not for the faint of heart!
Sometime Friday I decided that stopping at 5 minutes was, nearly impossible for me to regulate. It was quite possible I could lose my mind.
And then I texted the voice therapist to set up my appointments for this week. And I mentioned the 5 minutes. And that I randomly out of nowhere had vomited for 20 minutes that morning. And her words were crystal clear. “DO NOT SPEAK AGAIN UNTIL I SEE YOU”
I went from a poorly managed 5 minutes back to a feeble attempt at silence.
I spent 2 full days at a swim meet at with my girl. 7 hours each day away from home. I got to rest my voice, except when I felt compelled to tell her how proud I was. Or to wish her luck. Or to just chat… a little.
Some people really love chocolate. Me, I don’t mind chocolate, but I LOVE to talk.
We sat in therapy today and I got exercises for volume and pitch… all ironic because I struggle to tell the difference, but I’m an overachiever, so I try to do well. I sound like a complete loser, but I imagine it’s the same as me attempting something that requires coordination, like kick-boxing, or yoga. My poor vocal cords may not stand a chance.
6 exercises, 5 times each. Repeat 4x a day. And during those 4 hours DON’T SPEAK at all.
The revised schedule she gave me had 3 minutes an hour till Friday. Then, we’ll entertain 5 minutes again.
Tonight I pulled back into my office. To be silent I must be alone. I put some “breathe” into my diffuser, and tried to get my thoughts together.
Then I realized they ARE together. I just have no place to put them.
Tomorrow the house will be full for the snow day. Normally this would make me very happy. Tomorrow it is likely to make me a hermit.
Grateful the voice works. Grateful I tend to heal well…. But, some days
I’m not one for New Year’s Resolutions. I don’t believe in waiting for a specific day to make changes. If they are needed, wanted, or warranted – we make them. Right then. Otherwise, I’m all about just being your best you- every day.
Parenting a teenager is tough stuff. Even when your teen is just a good soul, a hard -worker, a good student, and a compassionate human.
There are people who would challenge me that we have it easy. They give me the default model, that raising one child has to be easier than raising 2 or 3 or 4 or 5 or more… And maybe they are right. I will never know. But, they won’t either. That’s the point.
Raising our children, or living our lives is not meant to be a discussion of “harder” or “easier.” There are challenges present in every single scenario that comes to mind when I think of EVERY family I know. In this house we talk a lot. My girl and I, we talk about those other lives we know, and their battles. And we send love and prayers and warm wishes, as they do for us. It’s not a contest, it’s real life.
2016 saw the results of two uterine biopsies of my then 12 and 13 year old, with results that left us uneasy, and in a perpetual state of “cautious waiting.” It also saw me back in surgery, replacing less than 5 year old silicone implants because one had “fallen” And then, it saw my clumsiness as I spent 6 weeks booted with a broken toe.
2016 saw loss in my family, as we mourn Pop, and are readjusting with Grandma in her new living space.
Yet, we made it. We came out with a few bumps and bruises, but we made it.
2016 ended with 8th graders we know taking High School entrance and Scholarship Exams. The next weeks will bring jubilation, laughter, and tears.
Yet, we WILL make it- all of us.
The “To Do” list on the yellow pad to my right is busy. The fundraiser is about a month away and there is lots to be done.
There is also an MRI, a vascular surgeon, an orthopedist, an endocrinologist, and a gastroenterologist for Meghan, as well as Pre-surgical testing, a tentative surgery date, and a breast surgeon follow-up, an oncologist, and an endocrinologist for me. All before February 22. That’s IF no one requires additional testing for anything…
We will fit in the “regular” stuff too, like swimming, and meets, and school projects, and drama… well you know what I mean.
We are working hard to fit Cowden’s Syndrome into our lives, and not to let it RUN our lives. It’s a subtle difference on paper, but a HUGE one in practice.
And when the thought of running a house that contains TWO people with a rare genetic disorder becomes overwhelming – we try to step back and count our blessings. Because at the end of all days, regardless of our struggles, it is good for us, and those around us, if we can remain positive. I’m not saying we’re perfect at it – far from it actually, but it is a goal, and an on-going work in progress.
It came up this week when we were preparing for the fundraiser and talking about social media. Actually, it has come up a bunch of times since the iPhone became attached to her hand almost 3 years ago…
Digital footprint – how are you presented on the internet? What if someone “googled’ your name? Now? 5 years from now? 8 years from now before your job interview? The whole concept of this blog has been discussed in depth. Meghan, whether she likes it or not, at the age of 13 has an identity that is connected to her rare disease. Now, don’t misunderstand me for a minute – a close read would CLEARLY indicate, she is NOT her disease, but she will never have the opportunity to deny the diagnosis. That’s forever, and its important.
What she does with it, well that’s ongoing. She’s made some pretty dynamic choices to date. Sometimes she feels a bit like she has something to prove- so she does.
She’s been asking me for “snapchat” lately, and eventually I’ll give in. But, I’m one of the mean moms who makes her wait. Instagram is plenty to manage for now.
This week Meghan was nominated as “Inspirational Staten Islander of 2016.”
It prompted me to “google” my daughter. So when I type in her name connected to our home town, these are the first links to surface…
And just for good measure, I switched to an image search. These 5 were on the first page…
And, just to be sure, I even tried Youtube.com, only to find a video made in February 2016
Apparently she has listened, carefully. I don’t know what the future holds for my bright eyed activist. I know she’ll continue to take heat from a few along the way. I also know she’ll find the strength to rise above and press on. Because, that is what we do.
Would she like it is she were named “Inspirational Staten Islander of 2016”? Sure. Will it break her spirit one way or another, absolutely not. Her focus is, “If I win, we could get publicity to help raise money at the fundraiser…”
If you’ve read this far I’ll tell you what I know about the poll I’ve linked you to below. The voting takes place like a reality TV show. I’m not sure how valid it all is, but there is a week of lots of voting. It ends January 11th at noon. Apparently you can vote many times before it stops you. And then you can vote every hour. So pretty much, if it crosses your mind, and you find Meghan inspirational, save the link and vote whenever it crosses your mind, until your device tells you to stop.
Regardless of the outcome, life will go on. And we will continue on the same missions we’re on right now.
About an hour ago I got off the phone with Meghan’s gynecologist. It seems we dodged another bullet.
Once again we got to spend about 45 seconds in a deep breath as we were told there was no evidence of malignancy in the uterine biopsy from last Friday.
There is always a “BUT…” I’ve come to expect it now. After she spoke, she paused.
I asked her why she sounded happy and hesitant at the same time.
“Well I just got off the phone with the pathologist…” and her voice trailed off.
So much was what she expected when she spoke to us Friday. But, it was still bothering her that there are polyps. And more than one.
“It just shouldn’t be…”
We’ve heard this so many times before. “It just shouldn’t be…” But, in fact it is.
So the polyps were benign. The tissue sampling was benign. This is a good thing. A very good thing.
But, this whole situation. The whole scenario that causes all sorts of conversations a 12 or 13, or even a 19 or 20 year old for that matter, should NEVER have to have, is just not ok.
There are thoughts, decisions, trade-offs, conversations, risks and benefits that make deciding on a high school seem trivial. Strange that THAT will be the toughest thing most girls her age have to do this year.
And as I look at her, it kills me inside the things she has to go through, and the thoughts she needs to think. All I can do is thank GOD, that He trusted me with this beautiful, dynamic, witty, young lady. And I promise to take good care of her until the rest of the world figures her out.
(and really, for FOREVER. as we remain #BEATINGCOWDENS together!)