Tag: PTEN

The Calendar …

Published on by beatingcowdens4 Comments

My birthday is a tricky time of year. This week is emotionally charged always. Emotions are right at the top. I simultaneously love and abhor my connection to dates. It is a blessing and a curse that I constantly strive to strike balance with.

I never thought much about my birthday growing up. There were often sleepovers and cake with family, but I never thought too much about it. Not about the day, or about the blessings of family, friends, and gifts galore. Somewhere in my youth, I thought it would last foever. I was always taught gratitude, and have penned my own thank you notes from a young age. But, I meant the matter-of-fact way things just happened. My mom worked 2 jobs. She worked hard all the time. But, she made time for those things as if it was effortless. I am pretty sure I might have missed some thank yous to her along the way. She never skipped a beat.

As a teen things changed a little. Our immediate in house family grew with the additions of Ken and little sister Kathi. Older sister Lisa was at college. But, still, I never gave the day much thought.

My cousin Meghan was born in May of 1985 when I was in 6th Grade. She was the absolute apple of my eye. She was the first child in my large extended family that I was ever old enough to babysit for. We spent a good deal of time together.

Meghan’s leukemia diagnosis came when I was a freshman in High School. The next 4 years for her were a perpetual whirlwind of remission and relapse, treatments, bone marrow transplants, and smart, silly kid time. She was wise beyond her years and loved on her little sister with everything she had. She loved our Grandma’s dog, and so many people loved her.

As a growing teen, I wanted nothing more than to be tested as a possible bone marrow match for Meghan. I was turned away, even as a first cousin, and told to revisit the possibility when I was 18.

The summer before Meghan died she gave me this picture after an afternoon at the local Children’s Museum. It hangs in my house still.

I left for college in August of 1991. I called and spoke with her as often as I could in the “pre-cell phone” era. And then our stories above became forever intertwined on 11/12/1991. A call to my dorm, on the morning of my 18th birthday, brought the news that Meghan had gained her angel wings. I was never going to know if my bones held the marrow that could have saved her life. That was a bitter pill to swallow. I was broken-hearted as I headed home for formal goodbyes, but I was buoyed by the fact that no matter how many years went by, her passing, and the celebration of my birth would be remembered the same day.

I never lost the feeling of connection to this spectacular, tenacious 6 year old whose ability to converse with those well beyond her years, to express her thoughts, and to bring joy to those around her was utterly epic. I never ever forgot New Year’s Eve together, setting all her dolls out on the couch, or the MILLION times we watched Lady and the Tramp.

Meghan was still in my heart in the summer of 2003 when I asked my aunt and uncle if I could name my child after theirs. That is Meghan’s name story. She was named after a warrior whose spirit she possesses. Their struggles differ but their giant hearts and no-nonsense speech sometimes are intertwined in my memories.

Our Guardian Angel wears a gold ribbon. The power of this has also not been lost on me. Childhood cancer is it’s own kind of hell, for the parents and the children. We, as Cowden’s Syndrome patients have astronomically high cancer risks. Ones that can get into your head if you’re not careful. But we have what is not given to most. We have a warning system. And through that warning system our cancers, if they occur, can be easily managed most often. We have a gift others were not given, even in this messy road.

The story of our Meghan has had so many twists and turns these last 18 years that many blend together.

Through those years we said goodbye to many grandparents. Among them, my father, Ken’s father, my mom’s father, and my dad’s father. That group of veterans were life-shaping as well. And, with Veteran’s Day being this week too… sometimes the proud, and the grateful, and the sad get mashed together.

And November 10th, the birthday of the US Marine Corps fits right in here as well. I do not profess to fully understand, but watching my Dad reach out to every Marine he was still in contact with on 11/10/2014, a month before cancer stole him, it imprinted on my heart.

I’ve never been a big fan of fall. Or, maybe I was when I was a kid. I don’t remember. But, somehow the darkness and the dreariness and all the memories seem to feel heavy this week.

So I try to think of the joys that have intertwined with the sorrow. I think of 11/12/2014 when Meghan received “Kid of Achievement” award at a very special ceremony.

I think of my little second cousin Mackenzie, my birthday twin, just a TON of years later, brought into this world no doubt with some careful guidance by Angel Meghan and some others, whose memory Mackenzie’s mom and I both hold dear. That precious girl, born after tragedy had already touched her life, has the most magical smile. Oh, I wish I saw her more.

Angel Meghan and Cousin Kim

And last year, we took the day as a family of three and had a delightful senior photoshoot for our one and only, also on 11/12.

Photo Credit Natalie Licini @Jrevele
Photo Credit Natalie Licini @Jrevele
Photo Credit Natalie Licini @JRevele

All of these memories are somehow connected to this week. And as I think about my birthday I am grateful for another journey around the sun. The numbers don’t flip me out. I will scream loudly and proudly that I am 48. I am a mother, a wife, a sister, an aunt, a cousin, and a cancer survivor. I am grateful.

This year though, on the 30th anniversary of the passing of Angel Meghan, I pause a little extra.

Some people come into your life only for a season, yet they leave an imprint on your heart that lasts a lifetime.

As I head into my 49th year, I am grateful for those I have loved and lost, and for all I have learned. I look forward to more adventures. I hold my dearest close. I shed the nonsense. I avoid the drama as best I can.

I am far from perfect. Perhaps my biggest life lessons come from basking in that imperfection, embracing those I have loved and lost, and those I still love today. Taking the lessons learned from all and carrying them forward.

Time waits for no one. Semester one at college is almost in the books. My girl is where I was the year my Guardian Angel left this earth. 30 years since I started college. Life keeps moving.

Honor the lost. Embrace those that are near. Live in gratitude and be full of grace as our God is to us. Lead with compassion and a kind heart.

May the fall be full of blessings for you.

We remain #beatingcowdens.

#beatingcowdens Goes to College!

Published on by beatingcowdens10 Comments

There are normal feelings I have right now. Like when I look at my adult packing for college and all I see is this.

I have all the normal swings of emotion of watching your baby grow up. I feel all the things you feel after you give them roots, and by God’s grace they grow the most beautiful wings. There is normal anxiety, about them making new friends, and finding their way around and starting a whole new life. Without you. During a global pandemic. After at least a year of abbreviated, altered and just not quite right classes and other human interaction. In all of this I am in good company.

Then, there is the added layer of letting your medically complex child free.

This is the child who screamed with colic for over a year while people told me it was just normal. This is the child who had her first surgery at a few months of age, only to have a baffled surgeon come out of an operating room to tell me the hernia “wasn’t there.” That was just a preview of things to come.

This is the child who was so overwhelmed with GI pain she became a sensory overloaded mess. This is the child who missed milestones, and who had early intervention services of OT, PT and Speech that eventually graduated into an IEP that only terminated in June. Yes, June of 2021.

This is the child who needed a timer to move from one side of the room to the other in PreK as her loving teachers guided her.

This is the child who wanted to run like the wind, but could not ever figure out why it hurt. This child we would later find was managing an arteriovenous malformation in her right knee. That knee. Seven surgeries on that knee. Years with the best Physical Therapist in the land. But, we did stop soccer, and dance. And maybe that was for the best. Maybe she has her mother’s coordination.

This is the child who the kindergarten teacher told me in November was “pretty far behind.” I told her to encourage but not to push. I would be just as proud of her as long as she did her best. Then, that same child got glasses. And with the nurturing love of that kindergarten teacher, combined with God’s GIFT in paraprofessionals she soared. This same child, by March had had her first knee surgery, recovered, and was sitting with the top quarter of her class. This child does not like to be kept down.

This is the child, who spent years sick with chronic viral infections. This child hung with me through mainstream and alternative treatments. She pushed me to push forward for her. This child and I went through hell together. We learned each other on the Belt Parkway and the BQE. And somehow we found beauty on the journey.

This is the child, diagnosed with Cowden’s Syndrome at the age of 8, whose diagnosis prompted mine. This is the child, my angel on earth, who saved my life with her diagnosis, as my breast cancer was caught oh, so early.

This is the child who never quite found her way with other kids. They just didn’t “get” each other. Some were so kind, but couldn’t connect. Many were terribly mean and maligned and belittled and tortured and tormented her soul. This is the child who would not break. Trauma after trauma. Surgery after surgery. Medical procedures layered on top of one another. This is the child who sometimes cried in my arms and other times locked it all behind walls. This child. This medical life. There are experiences that shape you, that make you who you are.

This is the child who chose her high school. Deliberately. She wanted to be with kids who were more in touch with real life. This child grew, through love and resilience and inner strength and therapy to learn all about herself. This is the child who found her way to God and a few special friends, finally, and not at all accidentally, right about the same time.

This child waited years for the service dog. The one to manage the needs that had developed through a medically complex life. Ella and she met in January, and the love in their eyes tells me it was worth the wait.

I abbreviate the tales of this child and her journey. I do that because it would make it too overwhelming for you. I do it because the chronicles mostly sit in the last ten years of this blog and sometimes the gut wrenching journey need not be relived in intricate detail. I abbreviate for my sake, because I can appreciate that God’s biggest gift to me is allowing some really traumatizing memories to fade just enough that I can actually breathe as I recall them.

If you ever want stories, I have them for weeks. If you ever need to tell your tales, I am here.

This journey to college has been a long time coming. My college athlete and scholar got there on “Gratitude, Grace and Grit.” That full academic scholarship- that took the resilience to overcome 17 surgeries, remain in top honors, and recover the body every single time to return to the water. Through it this child turned her experiences into compassion and a desire to care for others. As she puts it, she wants to “do better” for people like herself. And there is room. Plenty of room to do just that my girl.

This journey took learning how to manage to moment to moment pain of Arteriovenous Malformations, as a new one has developed in her thigh, and channel that pain into usable energy. To look into the eyes of your baby, the eyes of your one and only 18 year old baby, and to know they will likely never be pain free, is a special kind of torture.

This child, now an adult, will have one more virtual visit, with one more new doctor, before we load the cars. And we have all the fun stuff, favorite sweatshirts, and a pretty comforter. We also have daily pill cases, morning and night, set for 4 weeks. Along with a literal bucket of the “just in case” medications to get her through. There are gluten, dairy and soy free snacks. There are toys and treats for Ella.

There is a whole lot of new.

My heart is full of hope. While the medical problems travel with her, she has reached an age where many kids have seen life, and are generally more tolerant of humans. My heart is full of hope for new experiences, for laughs, and friendships that will form.

My child leaves with less experience in some areas, and so much more in others. And my hope, my prayer is that in this place there will be balance.

I am with all my other mother friends, leaving their children at college.

My heart is with my mother friends who will never have the privilege to experience this “going away to college.”

My heart is with my mother friends whose babies no longer walk this earth, but cover us all with their angel wings.

I have learned from all of you.

And as I cry, because I will cry, I will also absorb the magnitude of the fact that this is happening.

As we told her doctor many years ago… “every step of the journey IS the journey.”

We remain #beatingcowdens

Patient Blaming

Published on by beatingcowdens12 Comments

May of us cringe when we hear “victim blaming.” It happens often to make us feel better. somehow we are able to convince ourselves that that horrid crime, often domestic violence or assault happened because of what the victim was doing. Somehow this can make people feel safer, like it can’t happen to them. I never quite understood.

This week I have been thinking that “patient blaming” is just as real. It can come from a doctor, a family member, an acquaintance or even a friend. In my estimation “patient blaming” has decimated my spirit more times than I can count.

We saw a doctor on July 1 for the AVM in Meghan’s thigh. She was supposed to be “the best,” a term I know is used too loosely. She is a hematologist who many years ago prescribed an off label drug that quieted the AVM in Meghan’s knee for a good stretch of time. There was a GI bleed that hospitalized her about 8 months after. Maybe it was the drug. Maybe it wasn’t. We can’t seem to keep a doctor on the team long enough to have a long term understanding. However, it definitely worked to quiet the AVM because almost 6 months to the calendar after the medication was stopped, the AVM had a bleed of it’s own and left us with Thanksgiving week surgery.

This doctor knew we were coming to seek another drug being used off label for AVMs in our population. She took basic information via MyChart and seemed eager to help. We got the scan. We saw her. She spent a good hunk of time analyzing and criticizing Meghan’s regimen of prescriptions and vitamins. I asked her which ones she would cut. She had no answer, but used that medication list to tell us that there was no way Meghan could take the drug we sought.

I told her that in the absence of a solid multidisciplinary team I took us through every highway and backstreet alley in this city to get my kid functional. I worked with many doctors and put together a combination of prescriptions and vitamins that had allowed my kid to complete school with a full college scholarship, and be an athlete and community leader. She was unaffected. And, she told us that Meghan would not be a drug candidate prior to reviewing the MRI/MRA as she “does not read scans” and the report from our AM visit was not up that PM. She also made sure to tell us rare disease patients are “a lot of work.”

That evening she sent a message with articles cited for PTEN screening. NOTHING more.

But the report came up on 7/2, and I viewed it alongside the images. And I still want to talk to someone about the drug. I sent her a message on 7/3- no reply. NOTHING.

Ten days passed and I did this…

This morning we had this exchange…

Now, I had to maintain my manners, but I just about lost it. “I just sent generic guidelines???”

And WHAT exactly would you suggest we do next? How are you feeling about the report. What does it say to you?

I waited weeks for that appointment. I timed it right after school ended for the year. And again, a waste of time.

Time after time this scenario plays out.

I have lost count of the number of doctors we have seen that have come with promises of being “the best.” I have scheduled, and rescheduled. I have driven hours. I have spent ridiculous sums of money on tolls and parking. I would do it all a million times, but sometimes the feeling you are in the hamster wheel is all you have.

There is no one who knows me who would consciously say I have been anything less than a mouthy and stellar advocate for my girl.

Yet, inevitably this is where the “patient blaming” finds it’s way across the lips, of the doctors who can’t help, of those I love, and those I just tolerate.

“Why are you on all those medications?”

“Does it really hurt ALL the time?”

“Well, did you try doctor ____ in _____? They are THE BEST.”

“I took my child to _____ and that is the only person I would ever trust.”

“Everyone has pain.”

“You asked THEM? WHY?”

“What did you do differently today?”

Sometimes it is subtle. Sometimes people don’t even realize it. Other times, I’m not as sure.

Do people realize we are all doing the best we can?

Do they realize we have jobs? And insurance restrictions? And children who NEED for their mental health to have LIVES that do not FULLY revolve around waiting for doctors who MAY care enough…??

Do they realize even when we call, after HOURS on the phone, sorting out all of the above, that it may be MONTHS before our jobs, which allow for the insurance to pay for these exams can free us? Because there is NEVER EVER one issue at a time.

We are all juggling spears. All the time. There is no rest.

We are 11 appointments in over the last 2 weeks. We are far from through with the summer cram.

There is no place in my world for patient blaming. There is no place for parent/ caretaker blaming.

We in the Rare Disease Community must build each other up. And know when to speak.

  • Is it true?
  • Is it necessary or helpful?
  • Is it kind?

And as Grandma used to say, maybe if it isn’t we should just keep still.

My whole heart and soul is with a Cowden’s sister across the globe. The desire to wrap my arms around her in a giant hug is so strong. She has done all she could for her daughter. And despite all that, it may just not be enough.

Sometimes there is no one to blame. Sometimes it is scary. Sometimes it is close to your heart.

Lead with love.

If we don’t help each other – no one will.

So, we pray. We research. We learn. We rest. We pray. We seek balance.

We remain #beatingcowdens

The Medical Bell Curve – Where do you fall?

Published on by beatingcowdens2 Comments

Our healthcare system is broken. It is so desperately broken that I am not sure it can be repaired. But, I truly hope we are somewhere grooming a generation who will try. It is broken in so many different ways, but in the way we know best in this house, it is hanging by a very frayed and thin thread. And, truth be told, so are we. The question we ponder is what are we holding on to?

We have created sections, and subsections of care. I avoid the term “specialty” deliberately. We have crammed the status quo down the throats of exhausted and overworked doctors who are frequently jaded about their career choice before they have had the opportunity to size up the gargantuan pile of student loans they, or their credit, may never recover from.

Their jobs, at major hospitals have them double and triple booked for meager insurance payments. They are pushed to see more patients, and to do so faster. There is not time for inquiry, or for research for a particular patient. They are taught, “when you hear hoofbeats think horses, not zebras.”

And I get it – to a very minor extent. When I was in college I learned all about the bell curve, and how the vast percentage of the population, 68% fall within one standard deviation of the mean, or average. Which means the study of “normal” medicine answers whatever questions 2/3 of the population have.

If you take it a little further, by contending with some “odd” presentations, you have covered about 95% of the population by the second standard deviation, the bell part of the curve.

While this did not come off of a statistics site, you get the point.

What if you have a zebra? What if you are rare?? What if it is a way of life for you? Then what? Or what if you land in “mythical” and you have yourself a “rainbow unicorn zebra?” Do you want to know what happens then? “Medical Professionals” are so uncomfortable because you exist that they try to make you go away.

We live in a big city. We have always lived here. We have been dealing with my own medical challenges long before we knew of “Cowden Syndrome.” My girl came into the world a medical anomaly and little has changed. Except the unrelenting quest for answers brought us to a diagnosis of PTEN Hamartoma Tumor Syndrome, and hypermobile Ehlers Danlos Syndrome, and a Mannose Binding Lechtin deficiency, and and AVM in the knee, that on it’s own accounted for 7 surgical procedures, and one in the thigh, and a VM in each palm, and a lumpy thyroid that needed to be removed, and the same for the tonsils…. and…. and….

So, it’s summer. And while others are complaining about their jobs, we are doing ours. We are checking in with countless specialists as Cowden’s is a syndrome of constant monitoring. It is our job to catch cancer before it catches us. There are games I prefer. But, this is ours.

Over the years we have sought counsel from the most prominent, and the most “off the beaten path” doctors we could find in this city. And as my confidence grew I checked them. I checked their credibility. I learned more chemistry and biology than my 9th and 10th grade teachers could have imagined possible. I listened, I tried, I added and subtracted. And there grew a complex combination of prescriptions, vitamins, and compounded off label medications that make up a daily regimen in this house.

Do I have proof? No more than they do.

Monday and Tuesday we saw two of the best this state has to offer. One is a pediatric endocrinologist who looks at my child as a WHOLE PERSON. The other is an orthopedist who has seen her at her best and worst, and genuinely takes pleasure at helping her reach new heights.

Today. Let’s just say today I could have done without.

As a newly diagnosed PTEN patient Meghan was sent to a “specialist” who knew more of this disease. She was the one many of the others in our circle, (HUGE CITY, SMALL CIRCLE) referred us to as the guru. At the time she prescribed a medication that seemed to do a lot to slow the AVM under the meniscus of Meghan’s right knee. For a good stretch of time there was a respite from the vascular embolizations. We were on a good track. Then, there was that time she ended up in the hospital with a severe gastric reaction. It was assumed that reaction was from Celebrex, the drug with the off label properties that seemed to be slowing the progress of the AVM. Her esophagus was raw, and whether it was to blame or not, it was the likely culprit. I was cautioned we’d know within 6 months if it had been working.

Almost 6 months to the calendar there was a bleed in her knee that caused an emergency surgery. It was the AVM. And that time, enough blood sat there long enough to complicate a few more things. Had we been “Robbing Peter to pay Paul?” we would never know. The Celebrex left our life and knee surgeries resumed.

Hypermobile Ehlers-Danlos, undoubtedly an issue since birth, made nothing easier. The pain of constant subluxations was taking its toll. We added what we could to provide some relief.

Ella, the service dog joined us finally in January after a 3.5 year wait. Ella provides her own medicine.

But a few weeks back I thought, let’s revisit this PTEN “specialist” from yesteryear to see if she could offer advice on an off label treatment for the newest AVM in the upper right thigh, dancing with the sciatic nerve, too deep to remove, deep enough that the effectiveness of additional embolizations are questionable.

Her office insisted on new scans, and MRI/MRA with contrast prior to the visit. We had to schedule them both the same day as the office visit so we could discuss the new scans.

So, for the third time in 4 days we left for an all day medical journey. We left at 9:15, started the scans by 11, finished by 12:15 and waited till 12:45 for the CD which, even though they told me I didn’t need, experience has taught me that, yes. I do.

This was the first time, after well over 40 MRIs that Meghan was in the room alone. Ella was mine to care for in the waiting room. Mixed emotions everywhere.

The pouring afternoon rain showers seemed to add to the gravity of the day.

Having not seen this doctor since 2014, we caught her up on the surgeries since then. She is new to the facility we were at, although not new to the field. She immediately began to question well researched decisions made by a doctor who left the facility last year. The hairs on my neck began to stand.

She knew we were there about the AVM in the thigh, and we were looking forward to hearing her take on the scans. Imagine our shock to learn the images mean nothing to her, and we were waiting for a report that was not destined to arrive that day.

She reviewed the medication list and openly criticized it. But, she would not speak to what she thought was excessive. In a few sentences she managed to demean and demoralize. We asked about medications for AVM, and she mentioned one we are well read on. But, she then dismissed it because Meghan will be at college next year. “It is hard to monitor. I don’t monitor it. There is another doctor who does it. And I don’t know if you’ll be able to do it remotely, or if you can even get the blood work in Pennsylvania. Plus, we don’t even know it works.”

We asked again about the Celebrex, but she was reluctant to try it again.

At which point Meghan, who had been so quiet, let the doctor know she was instilling zero confidence with her list of “maybe,” “possibly,” and “probably not.” Meghan was accused of seeking pain medication. Which she was CLEARLY not. Trust me. This kid values above all things having her wits sharp.

I expressed our frustration with the carousel, or rather the teacups is a more accurate description of this ENDLESS ride. As she began to mention more doctors I shuddered. I asked her if she understood the physical, mental and emotional toll on the patient. I asked her if she understood by the time we leave appointments like this we are unable to accomplish much. Hours in traffic and the emotional turmoil of more questions than answers, we are exhausted.

She felt compelled to remind me that the process is slow, and I must be patient.

Again, I am not in a small town.

I am in a huge city. With great insurance. Which is useless because I can’t seem to get much covered anywhere but here. And who wants to see us anyway?

She made sure to remind me the hardship it is to take on Rare Disease patients. She reminded me about the paperwork. Yep, I know.

I reminded her that I have pretty much lost track of all casual contacts trying to keep my head above water.

Either she didn’t understand, or she didn’t care. She was too busy telling us Meghan is a success BECAUSE of doctors like her. I guess, technically she’s not wrong. Meghan is a success and will continue to be her best self because she knows she wants to DO BETTER and to BE BETTER, for all the Zebras, and the “regular” people too. So yes, she is a success, not because of those like this doctor, but in SPITE of them.

I’ll mail the CD to the ortho. In case we have something we have to do. In the mean time I will continue to teach and empower Meghan to manage her care as best she can. She is amazing. She never stays down long.

What are you doing this summer?

We will be here…

#beatingcowdens

Beating Cowdens – Ten Years 250K Hits, and Counting

Published on by beatingcowdens7 Comments

Spoiler Alert- Rare Disease DOES change you

I watch the traffic counter on our blog click real close to 250,000. A quarter of a million hits on little excerpts of this messy road. It blows my mind actually. I may never understand why people read. But, I do know why I write.

Ten years ago someone nudged me to tell our story. I told them there was no story to tell. Except in reality there was. My undiagnosed kid, my medical mystery, had gotten her diagnosis at the age of 8. The pieces started to make sense. And, my diagnosis followed later, connecting more dots, and solving some long standing questions.

So in May of 2012 I jumped in with both feet. I typed. I hit publish. And I never looked back.

Through the years people questioned whether it was wise to tell Meghan’s story before she was old enough to tell it herself. They didn’t realize she was telling it; hosting fundraisers, speaking at events, and even being honored as a 2016 NYS Woman of Achievement. She has also always said she would do it all again if it could help this complex diagnosis make sense to one person, to one family. If it could give someone hearing “PTEN Hamartoma Tumor Syndrome” or “Cowden Syndrome” for the first time, an image of people living with it, living through it, and doing their best to make life happen, then it was worth it.

Because really, at the end of the day, what we all need is hope. Well, hope and one or two rock solid internet support groups.

When we were first diagnosed Meghan’s therapist liked to tell her not to let Cowden Syndrome “define” her. She had an active Arteriovenous Malformation creating havoc in her knee. He had her draw a smiley face on the knee to imagine the pain was gone. He didn’t last long after that.

The truth is, that between us there have been over 30 surgical procedures since 2003. The smiley face on the skin, well, it doesn’t help.

What helps is determination, faith, tenacity, prayer, and support. Because being friends with people who are always in the operating room, or in the middle of surgical recovery, or medical drama, is exhausting. It seems they are always talking about something medical. It seems they are self-absorbed.

People say “don’t let it define you” because it makes them feel better. Maybe a more appropriate sentiment is to be cognizant of how it changes you. Because if you are just starting your journey I can guarantee you one thing. It will change you.

I mean a decade changes all of us, right?

The thing is when you are in the middle of the ocean, trying to avoid the sharks, it’s so hard to focus on anything other than swimming for your life.

Everyone has their own lives though. Everyone has their own crises. Everyone has their own problems. Yours seem constant. They are hard to keep a handle on and they can drive away even those with the purest of intentions.

I used to have hobbies. I don’t really exactly remember what I used to do. But I am sure I did.

I used to go places. With people. For fun.

But, now I often survive. And most days that is plenty.

There may be time to figure out those hobbies again, or to reconnect with those people. The 8 year old is turning 18 and is off to college in a few short months. Life keeps moving.

So 10 years into this blog, what are my take aways for a new family reading?

It will change you. Check yourself.

Enduring life with a rare disease can make you:

Angry or kind

Miserable or compassionate

Self- absorbed or philanthropic

Question God, or praise Him

Isolated or connected

Overwhelmed or focused

Complacent or driven

At some times in the last decade I have seen each of the above in me. I never made the decision to bring Cowden’s Syndrome into our lives. It did change us both.

Last week Meghan mailed out Thank You notes to people along her educational journey, from her elementary school paraprofessional to her high school principal. These people changed her for the better. She, from a life of medical struggles has learned that kindness matters. We say, “No kind word is ever wasted.”

Today Meghan left a training session at a local gym to tell me her trainer has a child with vascular malformations like the one in her knee. She gave him the number of our genetecist.

We learn to use the situations we are in to push the limits of what we are able to do. We hold our faith close.

Our identity as rare disease patients is tightly interwoven into the fabric of who we are and who we continue to become. But, even within the diagnosis there are choices. We can not control what happens to us. We can only control what reaction we have.

As a dear friend once told me, “When God closes a door, praise Him in the hallway.”

We remain #beatingcowdens

Exhale…

Published on by beatingcowdens4 Comments

Meghan and Ella have been settling in so well together.  Jax and Ella are fast friends.  April and Ella will be polite acquaintances.  Ella is playing, running, eating, and sleeping.  She is adjusting to life in our home and seems to be enjoying it.

The most prominent lingering fear surrounded the lump on her side.

We gathered the notes from the vet in Indiana.  We put all her paperwork together.  The entire Ortega kennel had vet appointments today.  So, we headed out for the first time as a party of 6- 18 legs, and 3 tails.

Our veterinarian is thorough.  He has treated our dogs well.  April needed some lab work for a persistent problem we’re working on.  Jax needed to be caught up with some shots.  And, Ella, well, that pretty girl needed to get started in her next phase of life.

The vet took her in and did a complete exam.  He read the sparse notes we carried with us from Indiana.  He looked at the photos of the lump on her side.

He called to tell us that we should start her vaccinations, as he could only verify rabies.  He told us he did a heartworm test that was negative for heartworms.  He drew blood.  That “should be nothing” later this week.

And, since in these Covid times, all news comes via phone from outside the vet’s office, the three of us sat quietly while we waited.

“And the lump?”

“It’s her rib.”

Collective exhaling throughout the car…

“Her RIB?”

“Yes, if you trace along the bone it’ll take you to her spine.  Most people never feel it.  Ella is very lean.”

Fist pumping and smiling took place for a few minutes.

We live in a worst-case scenario existence.  It is so rare that it goes well.  And, yet, today, was a win.

Nerves shot for no reason. I have no idea what happened in that office, or why the vet said hernia 750 miles ago.  But this is a win.  I’ll take it all day every day.

It looks like the rest of life really does start now.

Meghan and Ella… onward.

#beatingcowdens

And it’s a…Hernia!

Published on by beatingcowdens1 Comment

Now that I have your attention, I promise, you’ll get to the end of this episode of “You Can’t Make it Up!”

The day started with another successful training for Meghan and Ella at Barnes and Noble.  They are ready for their Public Access Test, and I am optimistic they will do well together before we get on the road to return to New York tomorrow.

We waited over 3 years for this dog.  There were many days we thought she was not meant to be.  There were honestly more days of feeling defeated than hopeful.

Early in the process Meghan interviewed via FaceTime in my car, before a swim meet, with Jennifer, the owner of Medical Mutts.  During the process we worked with Eva, director of client services.

Early in the process Meghan read everything she could get her hands on.  As the years went on she put the books away until they gathered dust.

In between there were countless emails between myself and Eva.  There was always a quick reply, and kind reassurance.  Although as I travel back through three years of email I can see more clearly now where there were some lapses in our communication.  Meghan is a very different human than she was in 2017.  Because of that, her needs changed.  At one point her dog was to also be capable of mobility assistance.  Over time, we dropped that piece as her legs got stronger. The one thing, the biggest thing that never changed, was TOUCH.

Meghan needs to sleep holding something she can feel breathing.  For a while it was me.  Then I was able to sub in some dogs, first April, then Jax.  The biggest thing, the first thing we wanted a service dog for was the sleeping.  A dog to sleep with her, and to help her wake to an alarm, would give her the first major steps towards independence.

During this past week many things have become evident.  Some were expected, and others unexpected.  Some were awesome, and others were just not.

One thing that has been solidly evident is that Ella’s trainer, Michelle, is true to her word at all times.  Michelle did not present as warm and fuzzy.  (Actually her intelligent, focused presentation reminded me a great deal of Meghan.)  She has proven to be awesome, and utterly effective.  As the week has gone on every thing that Michelle said she taught, every single behavior has become evident.   Michelle has gone above and beyond this week to make sure that Meghan and Ella pair effectively. She has come to the hotel to practice elevator and long lead walking. She has met us on her days off.  She made it her business to meet up to being Ella closer to the touch Meghan needs.  Today she brought a blanket for Ella, talked through a plan with Meghan and once again amazed me with her genuine sincerity.

Michelle taught all she was told to teach.  And I’ll leave that right there.

Somewhere there was a breakdown in communication above her that led to confusion on Meghan’s needs.  It could have been due to the length of time, or the changes.  It could have been a mistake.  It could have been any number of things. But it happened.  Meghan will succeed building the rest of the behaviors Ella needs.  Over time.

And to some extent that time is normal.  No service dog team goes home fully functional. They need to learn each other. It is an arranged marriage where the partners need time to learn what generates happiness in the other.

So while we have mixed emotions about a bunch of things, HOPE prevails.

Even today.  Today I spoke to Jennifer, the owner, for the first time since 2017.  I spoke with her out of necessity.

By the third night we had Ella she was allowing touch.  It didn’t take Meghan long to point out the lump in her side.  We mentioned it. We were told to wait.  We mentioned it again.  Attempts were made to explain it away.  We mentioned it again and finally today we were connected to their veterinary facility.

The vet said it is likely a hernia.  He seemed unaffected. After a physical exam, and quite physical by Meghan’s description, he told Meghan to massage it, and take her to our vet if it got worse.

That was the icing on a slightly undercooked cake.

I spoke with Eva, who directed me to Jennifer. And that is how we ended up back on the phone today.  Odd bookends to this experience, really.

I received the reassurance that Ella  had been thoroughly checked by their vet.  I internally contemplated his ability to be thorough.  I was promised that the facility will pay for any medical bills related to the hernia diagnosis.

Ella meets our vet on Sunday.

This is not exactly the homecoming we were hoping for.  Maybe our vet will see something different, or be able to offer some reassurance.

My mind can’t go too much past that.

I’ve got three years to reflect on, a public access test to cheer my favorite team through, and 750 miles to drive before we introduce Ella to Jax and April.

We will continue to take this journey, as we have done so many others, one day at a time.

Ella, you’re one of us now.  Hernia or not, whatever comes your way, we’ve got you girl.

#beatingcowdens

 

Puppy Steps

Published on by beatingcowdens2 Comments

It was a walk. Outside. On the long lead. And it went really well. Not perfect, but so very much better. The distractions are still a little disconcerting, but her focus and response to Meghan is improving all the time.

I am bothered that she doesn’t use the elevator, a problem compounded by our 4th floor room, Meghan’s nine knee surgeries and my very painful, swollen foot. And yet, I am super pleased that she trained today on the floor near the elevators, a floor she wouldn’t walk on days ago.

Her sporadic barking is a bit troublesome. Her trainers have told us it is the hotel, and noises we can’t even hear. I don’t love it, but they’ve been right on so many things this week. This week has been a huge learning experience. Yet another time in life where nothing is quite as you planned or expected, but there is a cautious optimism in the air.

I really expected when we got here that this Ella girl would hop right into bed with Meghan, and wake her up on cue the next morning. I did. I figured the leash would hand off and she’d be ready to do all the things Meghan needed. I expected she’d potty on command, and quietly tuck into small spaces. And I was upset when it didn’t go down that way at all. From learning to walk in sync, to finding the right spots for her to pee, it has been a labor.

I know lots of things. But sometimes it’s hard to accept that I don’t know ALL the things. Preconceived notions can be the undoing of many of us, and I am no exception. I did not realize at all that “Team Training” would mean that the dog and Meghan would be learning everything together. It actually makes sense. Ella is not a machine. Dogs don’t fit into “boxes” anymore than people do. Ella learned to work with Eva, and with Michele. Now, she needs to learn to work with Meghan.

Every time we have changed jobs, or bosses, we have taken with us the skills and work ethic, but had to tweak the way we performed. As the week has gone on it’s become evident that Ella was extremely well trained. She also works hard for really good food. As Meghan and she get to know each other, Ella has begun to transfer her learned behaviors and execute them with Meghan.

I was not totally sold on positive reinforcement training. I mean, I guess I used it to raise my kid, but certainly not with cheese and hot dogs! However, I have watched it work this week. And while I have no desire to train my otherwise happy pets like this, I see it’s value.


Tomorrow they practice, and Meghan gets to ask the rest of the questions. Well, the ones she has thought of already… I do hope they are prepared!

Tuesday she takes her public access test and we get on the road with our “plus one” for the 750 miles back to New York. This team has a lot going for them. Ella makes my girl laugh. The way the dog looks at her warms my soul. It’s like Ella understands she’s got someone really special in Meghan, and Meghan feels the same about Ella.


There are things that aren’t ready yet. We know there are no promises in life. We know it all too well. We are preparing to end the “Team Training” with tons of answers, lots of unknowns, and a giant pile of HOPE. I guess that’s about the best any of us can ask for!

Keep these two in your thoughts as they make “Puppy Steps” forward.

#beatingcowdens

Easy is for Amateurs

Published on by beatingcowdens2 Comments

I knew it wasn’t going to be easy. I did. I just didn’t realize it was going to be THIS hard. I mean, maybe I should have. Easy is for amateurs after all. But, I didn’t realize it. And as a direct result I am just coming back to life after a week of anticipation, frustration, exasperation, disappointment and despair, because finally we have settled into HOPE.

There are so many things that are not quite as we expected. Some, because we did not ask the right questions, and some because the questions could not have been anticipated until we arrived. Yet other things were not as we expected because so much time lapsed from contract to “Team Training” that some of the things we were seeking most seemed to have gotten lost in translation.

The trip, all 11 hours and 750 miles was nothing short of exhausting. We ended it with a stop at Whole Foods before parking in the ice covered hotel parking lot. We promptly found someone to help, and paid a generous tip to have our car emptied to our 4th floor room while we waited out of the way of the black ice and the unwelcoming bite in the Indiana air.

We had a hard time resting that night, thinking of the union over three years in the making, that was finally only hours away.

When we arrived at Medical Mutts there was a warm welcome from Eva, and there was Marvin, the friendliest cat I’ve ever met to sit with us through paperwork. Michele, Ella’s primary trainer, came with Ella, and while there was excitement, there was hesitation throughout the room. There were no “fireworks” and no “Here Comes the Sun” playing, as I had anticipated so many different times before. There were casual greetings, and obvious work from everyone, human and canine, to try to figure each other out.

That is the part you don’t think about before hand. Or maybe you do think about it. But, then there is the difference between thinking about it, knowing it, and experiencing it. Ella is not a computer to be programmed. She is a dog. And for all the reasons we love dogs, she is a dog. She is also a highly intelligent, and extremely well trained dog. The former, her intelligence and even her ability to be trained are innate. Her training though was very much a labor of love.

Medical Mutts saw promise in this girl, a stray from the streets of Tennessee. They took her in from the rescue that had taken her off those streets. They brought her to Indiana and loved her. They worked with this beautiful girl knowing that she would one day become someone’s partner for life, and give them just the independence they were so desperately seeking. It is the whole reason this facility, these people, were Meghan’s focus years prior. The beauty of taking the unloved and abandoned and giving them value and purpose, that is the real reason we ended up here, at THIS facility.

I guess I just hoped, that it would be easier. But, easy is for amateurs.

Ella’s primary trainer was Michele, a well-spoken, professional and knowledgeable woman. When she first greeted us I found her a bit aloof. In less than two hours I realized she had put a good deal of energy into Ella and was protecting her best interests. She was trying to figure out if Meghan was going to give Ella the life she deserves. In less than two hours those two understood each other and I watched aloof become focused and driven to ensure she transferred all her knowledge of Ella to Meghan.  I watched she and Meghan connect, like minded in many ways, and both were keen on making this union successful.

They worked Monday and the progress was spotty. Ella came with us to the hotel that night and all of us were in for an adjustment. We expected a dog who would hop on the bed and cuddle. But, Ella wasn’t accustomed to touch. My mind was a little blown, as we had sought this dog largely to sleep with Meghan, soothe her through nightmares, and wake her in the morning.

Tuesday they met again, and worked on some behaviors. My mind traveled from confused, to furious as I silently boiled at the thought we had waited this long for a dog that lacked what we had asked for in the first place. Further, she was distracted and needed seemingly constant redirects. When we entered the mall and both trainers seemed stunned at what they saw, I actually took a walk to choke on my tears. How after all this time could this be what was happening?

When I had originally looked at the schedule I was irritated that we had an off day Wednesday. I needed to go back to my life. What was this “off day?”

And then it was Wednesday. And I understood. It was a huge pivot in the journey. Meghan and Ella had some fun time. Ella stayed on the bed, and even let Meghan touch her. Ella played. She rested. Meghan got some confidence. They began to connect. It was so much slower than I had planned in my mind, but so few things ever go according to plan, I knew that often the best things came out of the detours.

There hasn’t been a day that we have not felt the full gamut of emotions. We’ve laughed and cried and screamed and yelled. We’ve giggled and cheered. We’ve passed out from exhaustion.

This morning Meghan and Ella had successful outings to CVS and Barnes and Noble. And I mean, really successful. They did the best team work I have seen so far. We came back to the hotel to playful “zoomies” and another training session with Michele.

And then tonight there was exasperation on a trip outside.

The pendulum is relentless. But every swing seems to leave them closer to being a functional pair. Ella is asking for contact. Meghan is reinforcing at rates that keep her interested and focused. They are growing together.

The weekend is for resting, playing and some informal sessions. Monday we brush up. Tuesday they take their public access test before we begin the journey home.

Tuesday is not the end, but another beginning. There will be so many beginnings in this journey. And maybe that’s the point.

Nothing in Meghan’s life has been as we planned. And not much has been easy or smooth. Yet every single step has brought us to places we’d never imagined possible.

Easy is for amateurs.

Meghan and Ella you’ve got this!  Let the journey continue.

#beatingcowdens

4th Grade, Zoom, and Searching for Balance

Published on by beatingcowdens2 Comments

I sat on my couch Thursday for the first time since September. It was an odd feeling to sit somewhere other that the desk chair that seems to have a permanent imprint of my bottom.

I sat down after releasing my 29 “rectangles” (read my adorable remote-only 4th grade class) from their daily Zoom meeting early so that they could play in the newly fallen snow.

It is just shy of 2 years since the fall in my classroom that changed my world on 1/8/2019. The need to teach remotely, which was generated by the suggestion of my diagnosing geneticist to minimize my exposure to Covid-19, and was sealed in securely by my foot’s stubborn inability to recover, even after a theoretically “corrective” surgery on 6/25/20, had been an experience that has absorbed almost every hour of every day since September.

After over a decade of working as a “cluster teacher,” teaching predominately a math lab, I was assigned to a fully remote 4th Grade as their real, actual full-time teacher. I was given student copies of the reading, math, science, and social studies program. Teacher’s guides were in hot demand. I was given online access where it was available. Fortunately, I was also gifted with 4th-grade colleagues who value, live, and breathe teamwork.

But, even with an amazing group of teachers to work “with” I was largely on my own. Some of the teachers were fully online like me, but most were teaching “blended” or “hybrid” programs where they were in the building with different students on different days.

Google Classroom was learned through “YouTube,” as were mostly all things Google. I figured out slides, docs, and a working knowledge of forms. I navigated TeachHub, got a recurring Zoom link set up, and vowed to give them the best I could in these crazy times. I figured out BitMoji, and tried to entertain through morning slides. I learned a curriculum I never fully taught. One day at a time.

If nothing else, I am stability for them, and they for me. The class began as 16 and has swelled to 29, but our routine is solid, and I am, for the most part, there “with” them all day. The whole thing is less than ideal, for everyone. But it is life mirroring reality at this point, and a Global Pandemic is less than ideal – for everyone.

In this capacity though, in my mind, it is all about the children, I will NEVER be able to give them a “real” 4th-grade year, but I will strive to give them order, organization, consistency and knowledge they are loved. Beyond all the adults that are out of their elements. Beyond all the political opinions. Beyond the emotionally charged debates, here on my screen daily are very real children, who are being very affected by everything we do and say. There are humans in those boxes. There are humans that are in their homes for different reasons, each with their own personality and very real story.

They are someone’s child. And as my child sits on her computer “attending” a very bizarre Senior Year, I think of the 4th grade her. And I try even harder. I think of the families that are not able to sit with their children because they are working from home, or there are grandparents watching who are not computer savvy, and I think about being raised by a hard working single mother and my ever-loving grandparents. Those children are my child. Those children are me.

I have put in more that my share of 12-15 hour days. I’m not super proud of that, as I have neglected self- care and the needs of my family. My family misses me. But, they understand. I have cried real ugly tears of exasperation and frustration at changing regulations and policies. They understand that too, and bring a hug, chocolate, flowers, or a glass of wine as needed.

I will not reach all the children. I will try, but I will not. I do not like to be anything less than successful, and that reality sometimes keeps me up at night. It would be hard to ensure 29 children in front of me mastered all their subjects. They are humans. They miss people. I get it. But, I can’t fix that either.

My girl handled the college application process almost unassisted. She worked through her essay, vetted her schools, created online interviews, and “meetups.” She is applying for scholarships and has a few promising offers for Physician Assistant programs, a career goal that seems perfect for her. Thank God she is who she is. I paused only to do FAFSA and proofread a few things and the acceptances began to roll in.

While life continues around me I plod on. I arrange science experiments at my desk and I live to provide supplemental digital resources from “Teachers Pay Teachers.” I do, as I have always been taught, “the best I can with what I have right now.”

And this week, when I got to pause I had a hard reality check. I am behind on almost every maintenance appointment. Cowden’s Syndrome, as I have been told since my diagnosis, carries with it cancer risks that peak at 50. Despite my mastectomy and hysterectomy, I remain at great risk for renal cell carcinoma, colon cancer, and melanoma among others. My care team has dissolved. The hospital I once centered out care out of has lost one doctor after another. No one has agreed to take the reigns of a less than basic life. And in this time of Covid-19, it is even harder to establish new care.

Losing track of my own health for a period of time, to benefit the mental and academic health of the children I have come to care greatly for was a necessary distraction. Now as we face the holiday season and the start of a new year, it is time to strengthen my resolve and figure out a way to strike a balance.

I need those children as much, or more, than they need me. But I need to strike that self-care balance. I need to step away from the computer, and silence the phone from time to time.

I loathe establishing care at new offices, attempting to break doctors in, when their very schedules disrupt every aspect of my life, and their care has often proven sub par.

Maybe the last few months I have been quiet because instead of #beatingcowdens, I felt a lot more like we were SURVIVING.

I have a feeling we are not alone. I wouldn’t know for sure because I’ve lost touch with almost everyone. These are crazy times. Take good care of the little people in your life. Know that however you feel about what is going on in the world they hear it and feel it.

I continuously remind myself to “be kind always.” Now more than every, everyone you meet is fighting a battle you know nothing about.”

We remain forever sometimes barely surviving, but ultimately

#beatingcowdens.