I don’t know anything about “Cowden’s Syndrome…”

After last night’s late night strep diagnosis, there was no way I could send her to Bible School this morning.

But, I had an appointment with the breast surgeon – a routine follow-up that I knew would take 5 minutes.

(That is why I had scheduled it July 16th when I was ALREADY IN the city- but last-minute doctor vacations are just one of the many inconveniences of life these days.)

I knew it would take 5 minutes – after I drove through an hour and a half of traffic, parked the car, walked a half mile, and waited to be called.

traffic

Truth be told it was lest than 5 minutes.  A three-minute groping of my silicone implants and surrounding lymph nodes.  The proclamation was made that everything looks “great” and I should return in 6 months.  I actually was probably dressed and on my way before 5 minutes were up.

fake boobs

But, I HAD to go.  It would have been too easy to cancel.  It would have been too easy to blow it off.  And what if?  What if that one renegade cell…  Nope, I HAD to go.

And, Meghan had to come with me.  She trekked like a trooper to the main hospital to get another copy of the CD of the MRI of her hand for the orthopedist appointment at 2:30. Then, we traveled on the journey to the Clinical Cancer Center.  I had to push her in the push chair today.  The strep was knocking the wind out of her this morning and the hips and knees were bothering her.

push chair

It was also bothering her that people were staring at her.  So it was a great opportunity to give her LOTS of really LOUD pep talks.  I hope a few people overheard.  Some people are really dumb.  Others mean well – but for goodness sakes, don’t just stare at the child.  Say “hello,” “good morning,”  ANYTHING… UGH!  But anyway…

And after the 5 minute appointment there was another hour in travel time back home.

time-warp

Just in time to let the dogs out and run to pick up some chicken breast cold cuts for her to eat before physical therapy.

As she inhaled the chips and chicken I spoke with the therapist.  I am always just so impressed by how smart she is, and how much she actually cares about Meghan.  She took the time to READ about Cowden’s and to try to understand WHY and HOW the small fatty masses on her palm are affecting her.  If only there were more…

Right after therapy it was off to the orthopedist looking for a few answers about the hand and the wrist.

That’s where things unraveled.

Ok.  I understand it’s a rare disease.  I do.

I get that with an occurrence rate of 1 in 200,000 you may not have touched on it in medical school.

rare-disease-day-feature

But, you insisted on the paperwork completed online a full 10 days before the appointment.  You could have read it, or had someone flag it.

And, I made the appointment with the doctor who had been prepped already.

Bait and switch?

The orthopedist today was amazingly young.  I guess the big 4-0 is approaching fast, because I could scarcely believe he was out of medical school.  Everyone seems to be looking younger and younger.

No need to remind me of what that implies.  I get it.

We have seen LOTS and LOTS and LOTS of doctors.  MOST would rather make something up than admit they didn’t know something, which is a problem in and of itself.  Not this guy.

He examined her hand.  Validated the pain.  Looked at the MRI report.  Declared there to be “nothing orthopedic” about her problem.  And then he said,

I don’t know ANYTHING about Cowden’s Syndrome, so you’ll have to tell me what it is and what it does.”

Cowden's Syndrome

I almost asked him to repeat himself, but that would have just been to buy me time for my response.  So, as I was gathering my bags and looking to exit as fast as I possibly could, I gave him a brief lesson on Cowden’s Syndrome.

This doctor was far younger than me.

This is the technology generation.

Step out of the room and hit google.com

The first link is this one http://ghr.nlm.nih.gov/condition/cowden-syndrome

What is Cowden syndrome?

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person’s late twenties.

Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability.

The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions.

Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

Read more about Bannayan-Riley-Ruvalcaba syndrome.

How common is Cowden syndrome?

Although the exact prevalence of Cowden syndrome is unknown, researchers estimate that it affects about 1 in 200,000 people.

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Was that so hard?  Meet me half way people.

It’s still hard for me to believe that cost me a co-pay.

Let’s see if the hand surgeon on Thursday can offer us something better.

Or maybe the rheumatologist will actually call me back.

Taking bets?

Every day is a great adventure!

Exhausted

But wait, there’s more!

but-wait-logo

 

Sorry if I got you too excited with the title.  It’s really nothing too thrilling.  It’s just – there’s more.  There is always more.

I held the phone all day in hopes I would get the promised call from the rheumatologist today.  Really I should know better.  At this point I just want to know if I can raise this child’s medication.  But, we will add that to the list of conversations for tomorrow.

Tomorrow – happening in just a few minutes.  My how time does fly.  And my fellow insomniacs, all with minds and hearts as full as mine will appreciate the fact that we laughed today.  We actually had a case of the giggles.

It started when I called about the car.  The poor, fairly new car at the “Car Doctor” continues to get worse news as the days go on.

CarDoctor

 

Today’s report was that they are “at a standstill.”

WHAT?  A work stoppage on my 7 month old car??  REALLY?

But they have to wait for authorization before they can ORDER any more parts.

AND, they are waiting for a “Field Mechanic” to come take a look.

How this happens to a car that 7 days ago the entire shop was swearing to me was just fine is amazing,

At least they are on the same page as I am now.

Meghan and I HATE the rental.  It smells, It shakes.  It’s dusty.

But we laughed at the fact that the mechanics can’t seem to fix the car any better than the doctors can fix her.

Funny what can make us laugh.

We know each other really well Meghan and I.  We are very “in tune” so to speak.  I guess it’s a product of being together so often in so many precarious situations.

So as we walked up to swim practice again tonight she complained of pain in her neck.  That was weird.

I touched it – checking for lymph nodes.  Nothing obvious.

She swam the first 50 yards and looked weak.  The coach motioned for me to come to the deck.

She told me Meghan said her throat was scratchy and dry and she was having trouble breathing.

Meghan told me she was GOING TO finish practice and she was FINE because she LIKES practice.

I stepped back from that level of determination.  The coach agreed to let her swim if I was close by and we both watched.

She swam until 6:05 after taking 1st place in her 50 free heat during the mock race at practice (and knocking off about 8 seconds from her time a few months ago) the coach told her to go.

Only ten minutes left in practice anyway, reluctantly she agreed.

speeding train

 

And I can swear to you as we walked up the steps to exit the pool that is where the speeding train plowed right through her.

That was it.  She was talking and then all of a sudden she was telling me she was swallowing nails.  She was pale.

It happens that fast.  This isn’t so much the Cowden’s but the weak immune system.  The IgG subclass deficiencies, the missing mannose binding lectin.  From winning her heat, to flat on her butt.  That fast.

So we drove home and she showered.  We talked about the pros and cons of urgi care at dinner.  We had the conversation more for something to talk about.  We all knew she had to go.

hello-again

 

So we even have a “regular” doctor at the urgi care, who knows enough history not to badger us with silly questions.  He dove right in for the strep test.  He dug into her throat and patiently watched for that second line to appear.  And finally – close to the 5 minute time frame, he walked over and said to me “here it is.”  Faint as anything, but it was there.

“Smart Mom, by tomorrow she would have been a mess.”

I know.  I know,  It’s that fast and that hard.  If I wait –  it gets ugly.

strep

 

That’s the scoop on Strep Throat – from a family that has seen a lot of it.   We thought we were rid of it when the tonsils left.

We forgot that Cowden’s patients can regrow their tonsils.  So the tonsil tags forming again in the back of her throat are little disease mongers.

The first dose of antibiotic went in around 10.  The second one will be tomorrow morning.

Tomorrow she was supposed to be at Bible School.  Tomorrow she will accompany me in the rental to Manhattan again for my follow-up with the breast surgeon.

I hope its quick.

She has PT at 1, and the orthopedist at 2:30.

No rest for the weary.  Have to check on that hand.

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