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.

********************************************************************************************************

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.

patience-buddha1-300x248

 

Tick Tock

wagner-college

I actually watched it happen.  We were walking up the hill to swim practice last night.  Then she was limping.

She handed me her bag – struggling to balance.  Before I could ask what had happened…

“My hip, my groin, the whole thing!”  Gesturing near her hip bone and down her outer thigh.

I looked for a bench but there was none.  She wasn’t interested anyway.

“We can’t sit – I will be late for practice!”  Exasperated that I would even think she should stop walking while writhing in pain.

“Um, Meg – I was thinking you shouldn’t go to practice.”

“No way!  We are here.  I am going, and besides- the only time I feel close to normal, like everyone else – is in the water.”

almost_normal_01

We took away soccer.

We took away dance.

We can’t take away swimming.

Spring 2013
Spring 2013

So I made sure she asked her coach to help her stretch the hip.  She stopped only once during the hour and fifteen minutes.  I am sure I could not have kept up.

As I walked, and she limped back to the car she said it was, “not so bad.”  And, she was “glad” she practiced.

Dedication.  Admirable.  Torture.

After the shower it all fell apart quickly.  She froze almost completely. We rubbed it, and elevated it.  Within an hour she needed help walking.

She got settled into our bed and tried to rub her hip.

The yelp indicated the pain on her hand and wrist has not subsided either.

As we got her comfortable I thought forward, about the week to come.

I emailed her genetecist and her oncologist this week.  I attached photos of her hand.  I attached the copies of the MRI report.  They responded inside of a few hours.

Biopsy those lesions.  On this they agreed.  Cowden’s Syndrome -PTEN Hamartoma Tumor Syndrome.  Soft tissue tumors are common.  The oncologist reminded me only one lesion was visible during her exam just 2 weeks ago.

I know.  I watched the other one pop out as she cried out in pain during a shopping trip to Kohl’s.  It wasn’t there.  Then it was.  Now it is.  And it hurts too.

Tuesday we will see an orthopedist.  Thursday we will see a hand surgeon.  Two more doctors we didn’t plan for.  Two more afternoons lost waiting.  Two more opinions to contend with.

surgeon5bl8

And the prevailing uncertainty that anyone will ever fix the problem.

She is walking a bit better tonight.  That is encouraging.  A nice afternoon with a friend.  Conversation for me was easy and comfortable.  Grown up talk – something I have craved, while the children swam in the pool.  Almost normal for a few hours there.  Almost.

The car is going to stay in the “car doctor” over the weekend.  Apparently its condition has been downgraded.

Paperwork to begin a complaint with Better Business Bureau should arrive early next week.

Maybe I should give the CAR an ISAGENIX shake or meal bar.  It might be more productive than what is being done to it.

www.meghanleigh8903.isagenix.com
http://www.meghanleigh8903.isagenix.com

Monday we should know more.

Monday we should also hear from the rheumatologist about her thoughts on the MRI.

Sandwiched in between concerns about family and friends alike.  In some ways our lives are miles different.  In more ways – they are exactly alike.

Patience.  Worry.  Anxiety.

Tick Tock, Tick Tock… that would be the sound of summer passing us by….

run-clock

Lemons

lemon eyes

Generally I try to be a pretty positive person.  But really I have to say this is getting a bit ridiculous.  I am starting to wonder if I am doing something wrong.  I mean everything feels like a project, every situation an issue.

Its no small wonder people sometimes tire of talking to me.  I tire of telling tales over and over again.  Really, I am not a big fan of drama at all.

And yet, as the precious weeks of summer tick by, and one obstacle after another seems to end up in our path – today I did feel like squeezing some of our lemons in a few people’s eyes.

My constant awareness that it could be worse; my attentiveness to the struggles of others is what keeps me grounded, but it may be even more exhausting.  The prayers for young babies, and new mothers, the prayers for families who have lost young loved ones to tragedy, the prayers for the young children who are ill, the prayers for my grandmas – all three of them dealing with their own health issues… and the list goes on.  I DO know it’s not just us.  But sometimes when it seems to be one lemon after another, I get tired of ducking.

lemon

I know the saying about lemons, and an old cliche is good now and again…

lemon to lemonade

But sometimes it just doesn’t cut it.

Sometimes lemons are, well – just sour.

My girl has been complaining of her wrist and hand since June 4th.  I remember the date very specifically.  And it has been a long 7 weeks.  The last few weeks of school she could barely write.  We tried braces, no brace, resting, ice, heat.  Nothing.  The pain gets worse.  Then the MRI says normal and I want to spit. (Lemon juice in someone’s eye!) Now we wait while the MRI gets reviewed again, and its time to have a surgeon look at what appear to be soft tissue tumors (at least 2 of them) forming on her hand.  One has been there since – forever.  The other appears to have grown in size in the last 72 hours.  I am not surprised they didn’t show up on the MRI.

This is the same child who took 7 sonograms to have her gall bladder diagnosed with “milk of calcium” and after three “negative” sonograms for the obvious mass growing out of her back years ago – the surgeon decided to trust his instincts and ended up removing a sizable lipoma.

This kid breaks all the rules.

And that’s before we even get to the ramifications of the diagnosis of Raynaud’s Syndrome and its implications made off the MRI.  ( I guess that means it was … almost normal?)

So tomorrow I will call an orthopedist to check on insurance issues and to see if they will take a look at this kid.  (This one comes HIGHLY reccomended! :-))She certainly can’t start 5th grade unable to write, and this can’t go on forever.  So, another doctor it is.

It should be easier to get to the doctor after Enterprise picks me up at 10 tomorrow and sets me up with a rental as my relatively NEW car spends one too many days at the “car doctor” who seem unable to fix the problem either.

This is how long I waited on hold – before I hung up the phone and drove there myself…

waiting

All this as we clean out the attic to prepare for the new roof to be installed in a couple of weeks, and we wait for the people to call us back about the class action lawsuit that somehow explains the water damage and dry rot in our bay window.

lemon rainbow

So if I stay stuck on the lemons I may lose perspective, and God knows I need that to get by. Instead of wishing troubles away I pray for the stamina to continue to endure, and endure.  Wouldn’t trade my  life for anyone’s.  But, God give me strength to find the rainbows – even in the lemons.

And as I organize my paperwork – constantly – tonight I write a check to support “Alex’s Lemonade Stand.”  And I pray for all the parents faced with cancer in their children.  It strikes fear in my core, so I do whatever little I can- knowing all too well we can all be tossed into places we would never venture to on purpose.

lemonade alex

And as I reflect on today, I guess it was a success.  We did get into our much underused pool for some mother/daughter time.

swim 1 2013

swim 2 2013

And when all is said and done, and I have had a few glasses of cider, and I can sit down and regain my perspective – I have a pretty cool kid.  This Cowden’s Syndrome thing – it really sucks.  But its such a part of us now, that I can’t imagine giving it up.  We are not defined by it, but it is a part of who we have become.

So in the interim, for those of us who by bilateral mastectomy have gone from a size C to an A cup – maybe this is a more appropriate way to view those lemons.

lemon bra

Couldn’t hurt.  Might help.

Keep laughing.  Keep swimming.   It’s all we’ve got.

Normal?

frustration.jpg.scaled1000

 

Really?

Normal.

That’s it?

Normal MRI.

Three hours, two different magnets, three doses of contrast dye.

Six days of agonizing waiting.

The vascular surgeon called this morning.

questions

I want to be happy.

I want to be relived.

I want to be sure I believe he pored over the images on the disk and didn’t just read the report.

Unfortunately I can not be happy, or relieved, because there is pain.  Lots of pain.

When I told Meghan about the conversation she got angry.

I cried.

I don’t know how to help  her except to keep pressing and pressing for answers.

At least she knows I believe her.  I suppose that’s more than some kids in her boat have.

But still its hard.

There is no diagnosis.

There is pain.

She has work to do.

Writing is agonizing.

Swim practice certainly doesn’t help.

What do you do?

charliebrown-football

I can’t take away everything she loves.

I can’t absolve her of responsibilities – even when I know they cause pain.

I called the rheumatologist.  For a small fee I sent her the CD too.  It’s only money.

Maybe she will look harder.

I feel like I have been beaten up.

I spent the afternoon writing a letter to the corporate office about chronic inconvenient car problems.

Really I am tired of all this fighting.

Can’t we all just get along and do the right thing?

No words of wisdom today.  Today we do it Dory’s way…

keep swimming

My Wish

What would I do?
What would I do?

I have been quiet this week.  That in and of itself is unlike me.

I am tired – well bordering on downright wiped out.

There are a few more weeks of summer to go, and aside from a well planned Disney Trip, set in place in January – there seems to be precious little to look forward to.

Meghan has a short list of “have tos” which I plan to do EVERYTHING in my power to work out for her, but really every effort I made to keep this summer better – to “streamline the doctor visits” seems to have failed miserably.

Today she began her summer homework.  While it is reasonable, it is one more thing on a list of “have-tos” for a kid that just wants to be a kid.

There is no camp for Meghan.  It is all doctors appointments – all the time.  And when it is not her appointments it seems to be mine.  She is swimming three nights a week on a new team, at least she is LOVING that – but we have barely been inside our previously overused pool.

Wishes 1

And its funny, while she and I have both had appointments of almost equal number in the last few weeks, I feel so much less stress about mine.

The geneticist  the endocrine surgeon, the gyn oncologist, the abdominal MRI, the plastic surgeon, and the oncologist.  The spleen survived its next cut – and can live for another 9 months.  The 3.5 cm roundish lymphangiomas are stable.  That’s all we ask for now.  The thyroid lymph nodes – not suspicious enough to biopsy.

The plastic surgeon, well the LOVELY woman offered me a boob job to correct the “asymmetry” caused by me shoving the reconstruction all into one day.  Not this year, but thanks.  Good to know the offer stands indefinitely.  For now, I have other things to do.

So I have only one more of my appointments lingering, a late July follow up with the breast surgeon.  I thought of blowing it off and then realized how dumb that would be – for so many reasons.  So, I will go.

But Meghan’s appointments, those are the ones that keep me up at night.  Those are the ones that strike fear and anxiety in the core of my soul.  My heart beats outside my body in this little girl.  I can not sum up in any number of words the depth of my love for her.

So to say this summer, and especially this week has been sheer hell would be the understatement of the century.

worry 2

Her appointments began the day after school ended.  The lengthy thyroid sonogram bought us another 6 months.  The pituitary function test was a train wreck, but the call this week claims the results were OK.  I want to feel more relieved.  But its hard.  I am waiting to read the report myself.  “Doubting Thomas?”  Maybe.  Realist – probably.  Something is not quite right, but at least its not SO wrong it has to be addressed today.

The geneticist began to speak of carnitine issues, and I am waiting to hear of a possible muscle biopsy.  In the interim I bought carnitine.  Lets see if we can cut that one off.

The vascular surgeon examined the wrist, painful since early June, and the knee.  He wants an orthopedist on board, but wanted me to consult with the rheumatologist about the wrist, and then scan the knee that had the 4 surgeries, because its been over a year.  The rheumatologist concurred on the MRI studies, so we went forward with the wrist first.

Saturday, as I wrote about previously was hell on earth.  I have been through a lot of MRIs with this kid, and the behavior of the two techs scared me to my core.  I was assured upon exit, that the results would be available to my doctor Monday that passed.  Well multiple calls, over the course of Monday and Tuesday led to a promise the results were being released Tuesday.  “It’s a complicated read Mrs. Ortega.”

Wednesday morning  – still nothing at the vascular surgeon’s office, only to find the CD and report left by courier at 10 am.  They will make it by 3 I was told.

A return call to the surgeon’s office at 4:15.  “They just got here, but the doctor is gone – emergencies.  He should be able to look at them tomorrow.”

Some time around 4 AM my daughter climbed into bed between my husband and I.  She had been awake long enough to finish her book, but she just couldn’t settle over the pain in her wrist.  At about 6:15 this morning she nodded off.  I tried desperately to find my peace.

God's got this

And all day today, again, I held my phone.  We skipped the pool in between the “have tos” of getting the oil burner cleaned and our annual trip to the dentist (normal stuff.)  I refused to be far from my phone.  But as minutes became hours, my hope dwindled.

A call to the office at 4:30, “Sorry, he never made it in today, but Meghan’s chart is on top of his desk.  He has office hours tomorrow.”

Six days.

Unnecessary torture.

Six days.

Wondering, worrying.

Even if the report – by some freak of nature reads “normal” I can’t even be pleased, because the pain is not normal.  It is real, and it is consistent, and it has gone on too long.

I wish for a lot of things in the world.

I wish for children and their parents not to suffer with illnesses or adversity of any kind.

I wish for relief for those in physical, mental, and emotional anguish.

I wish for peace in the hearts and minds of the caretakers of those who struggle.

But today I also wish something else.

I wish that EVERY SINGLE medical professional who performs a test – from what is perceived as insignificant, to critical recognizes the power of their words, and their actions.  I wish that EACH of them understand what it is like to be on the receiving end of cryptic messages, grossly extended tests, and precious little reassurance.  I wish that EVERY doctor who receives a call from a patient panicked about their results be PROMPT in their response.  I wish that EVERY one of them, who goes to work each day and forgets that our child, parent, sibling, loved one exists will at some point in their life be on the waiting side.

I WISH for every one of them – from the techs, to the couriers, to the office staff, to the doctors- to have the opportunity to await the results of a test from someone they love dearly.

Then MAYBE, just MAYBE they will understand our torture.

Hang on Meghan.  Summer is coming.  Hang on.

summer

 

Champions of Hope – Global Genes Project

I received this in the mail today, and thought it was an error.
I received this in the mail today, and thought it was an error.

I actually Emailed the woman on the card to tell her they had made a mistake.

She assured me they hadn’t.  She even forwarded me the nomination form that had been sent in on behalf of Meghan and I.  Touched.  Stunned.  Honored.  Flattered.

I talk to Meghan all the time about the blog, about the internet, and about forfeiting privacy in the interest of reaching others and raising awareness.  She is all in.  She is a preteen.  This is the time to address internet issues all the time.  I told her the other day she would only want things on the internet about her she would be proud if her family or a future boss saw.  She agreed.  She is proud of this, and so am I.

We are big supporters of the Global Genes Project.  We wear the denim ribbon on our necks every day.  (And we hope beyond hope that one day, they will sell them as an awareness raising fund-raiser!)

The winners have been chosen.  I wish them all the best.

I have no idea how many people across the world received this glass block that we received.  It doesn’t matter, because it won’t make it any less special.

We haven’t done much – just openly told our story.  But, apparently to some, that is all they needed.

I am so grateful for the “Rare Disease” friends I have met along the way – those with Cowden’s and other PTEN mutations, and those with diseases I myself am first learning about.  Separate we are weak.  Together we are strong.

And to the very strong lady, my friend who I have never met, who had the love in her heart to think of us, to nominate us… well, BIG HUGS to you.  You continue to make a difference every day.

2013 “Tribute To Champions of Hope” Gala

2013 RARE Tribute to Champions of  Hope Gala

 

They will celebrate in California on September 21st.  We will celebrate right here, and with them in spirit.

There are people making a difference for our “Rare” community at large.  I am eternally grateful.  One day, all this will change… (source) http://globalgenes.org/rarefacts/

RARE Facts and Statistics

Statistics and Figures on Prevalence of Rare and Genetic Diseases

Although rare and genetic diseases, and many times the symptoms, are uncommon to most doctors, rare diseases as a whole represent a large medical challenge. Combine this with the lack of financial or market incentives to treat or cure rare diseases, and you have a serious public health problem.

Here are a few statistics and facts to illustrate the breadth of the rare disease problem worldwide.

  • There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day
  • 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population
  • Similar to the United States, Europe has approximately 30 million people living with rare diseases. It is estimated that 350 million people worldwide suffer from rare diseases
  • If all of the people with rare diseases lived in one country,  it would be the world’s 3rd most populous country
  • In the United States, a condition is considered “rare” it affects fewer than 200,000 persons combined in a particular rare disease group. International definitions on rare diseases vary. For example in the UK, a disease is considered rare if it affects fewer than 50,000 citizens per disease
  • 80% of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear
  • Approximately 50% of the people affected by rare diseases are children
  • 30% of children with rare disease will not live to see their 5th birthday
  • Rare diseases are responsible for 35% of deaths in the first year of life
  • The prevalence distribution of rare diseases is skewed – 80% of all rare disease patients are affected by approximately 350 rare diseases
  • According to the Kakkis EveryLife Foundation, 95% of rare diseases have not one single FDA approved drug treatment
  • During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined
  • According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquiries made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease
  • Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease

And one day this list will be a lot shorter. http://globalgenes.org/rarelist/ (Click to see the more than 7,000 Rare Diseases)

For tonight – I will rest knowing we have helped a few people as best we can, and that we have raised awareness of a few others.  I will rest knowing that while I endure the agonizing wait for the wrist MRI there are people working so that one day these Rare Diseases will be a distant memory.

I will rest thinking of my daughter – the future geneticist.  One who WILL make a difference!

I have always wanted to be a doctor!
I have always wanted to be a doctor!