I could barely contain my laughter, but by then we needed a good laugh.
We had just left the hand surgeon. The one who was hopefully going to have an answer, and get Meghan some relief from the persistent pain in her hand and wrist.
I came as usual, armed with a thick heavy binder, a recent MRICD and reports, a list of all current doctors.
I think I knew we were in trouble when he didn’t seem to see the small mass at the base of her middle finger. You know, the one she says helps alleviate the pain when she presses on it?
He said it was “barely there.” Yes, and 2 weeks ago it wasn’t there at all.
He took an Xray. Obviously low radiation, (I hope) because no one left the room.
The bone structure is fine.
Shocker!
And he repeated to me that the MRI was fine. (YEP, I know.)
But, at least he, 40 years older than the other doctor, had the decency to take out his iphone5 and google it.
I gave the beautifully written letter from our PT. It explained everything so clearly.
Pause… Pause… Obvious think time for the doctor.
“I don’t know what to tell you.”
EXCUSE ME?
” I am sorry I wasted your time.”
That was it. No request that we come back. No suggestion on what to do next. Pay the Copay (AGAIN!) and leave.
So when we got to the car Meghan and I were both agitated. Rightfully so. She is so frustrated. 8 weeks plus, and she doesn’t have the range of motion in her wrist. She was so angry. How is it that these medical professionals keep turning her away with no answers and still in pain?
I told her she was entitled to a fit. She is above that. She got angry for a bit, then frustrated. But I have definitely had many worse fits this summer alone.
Then, she said, “You know what Mom? They are all Donkey Butts! All these doctors that can’t fix anything, and keep wasting our time and your money- that’s what they are- DONKEY BUTTS!”
I spend a good deal of time working with her on appropriate language for a lady. But I almost had to pull over in hysterics from laughing so hard. I think she nailed it – politely and accurately.
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.
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.
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.
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.
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.
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.”
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.
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.
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.
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.
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.
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.
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
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.
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
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 am sitting in the basement on the computer trying desperately to ignore the cricket serenading me from some other corner of the room. My family has been asleep for hours. Silently I have struck a deal with this insect, that if he stays far from me, I won’t try to squish him.
Not a big bug fan, and since a quick google search shows me a photo of one of his distant cousins, I have strengthened my resolve not to meet the cricket tonight. I don’t mind bugs, when they live outside where they belong. I just don’t like them taking residence in my house!
So, he continues to sing, as I put 4 stamps on the CD of the sonograms of my abdomen from April and last Novemeber. I included the reports and a cover letter to the oncologist. Off they will go tomorrow, and hopefully they will safely arrive. See I am really and truly ready to hear the definitive word that the spleen stays. One more week…
Week – what a week it was. I swear I am still sore from the boxes earlier in the week. A true sign that I lost a lot of strength post operatively. But, I am moved in. And, after 2 hours on a Friday afternoon after the students, and most of the teachers had left – I am largely set up. Finally!
Meghan loved her 4th grade teacher, even if it isn’t the one she originally wanted. This one has all the skill, kindness and compassion of the other. It will be a great year for her – academically.
Still so many medical questions unanswered. I am so intrigued as to how a pituitary that is over working can be too small. I am even more intrigued that this keeps only me, and apparently the cricket, up at night.
Answers. I need answers instead of more questions. But I fear it just isn’t to be. So, I will head to bed before I am forced to meet the insect that has been singing my lullaby for the last 2 hours.
Tuesday when the doctor didn’t call me with the MRI results, I was really irritated. Annoyed enough that I called the imaging center where the test was done and asked them for a copy of the report. While regulations prevent them from faxing it, they did put it in the mail. I received it yesterday, but since we were having such a nice, “normal” day, I decided to wait and open it today.
Now, if you are frequently ill, or if you have a child who is ill and frequently tested, you become able to decode these reports to some extent. It’s not perfect, nor am I fluent, but I can manage to get the idea. (Kind of like after 12 years of being married to a Puerto Rican man, even as a woman of Irish, Norwegian, and Dutch descent, I can kind of “get it” when they talk in Spanish.)
So I took the report down to my computer table, and the first thing I did was compare it to the last one. (Which was easily found in the 4 inch binder of her medical records, in the blue tab marked “images” – but we can talk about my OCD another day.)
Now the truth is I have no business trying to interpret this without the aid of a doctor, but for that – I blame the doctor and his insensitive move to ignore me before his long weekend. So, I will give it a go.
The first thing I notice is that the reports are similar to each other. Since they took place 6 months apart I first rationalize this must be a good thing. There was not any significant growth of the AVM over 6 months. Then I realize she had surgery in February to shrink the AVM. There is NO significant change at all in the size of the AVM.
Under the section marked “findings” it reads “Deep into the medial retinaculum is a 2.8 x0.7 cm… mass” Now I know that’s the AVM, but I had to take out a tape measure to picture the size. Then I figured out the other words were obviously location, so I went searching for some pictures. I took this one-off the www.aafp.org website.
I took a long hard look at this picture and then a long hard look at my child’s knee. I think it hit me for the first time when I did that.
I mean, I have always known her to be in pain, a pain I belive to be very real and very intense. But she has often said to doctors, and to me, that her knee is “swollen.” That finding is always discounted by doctors reading these reports because it says “no joint effusion,” which translates into no swelling of the joint.
But, anyone who has had a splinter knows the irritating feeling of having something in your skin, and the desire to remove it.
So, when I think about the doctor, incidentally the same one who didn’t call me Tuesday, telling me for several years that “AVMs don’t cause pain,” I must say I have an overwhelming desire to cause HIM pain. Maybe AVMs in and of themselves, in certain locations, do not cause pain, but I can not imagine that a mass, almost 3cm by 1 cm imbedded “deep” in the medial retinaculum would NOT cause pain. I can also understand why the feeling of a fairly large pebble formed by blood, capillaries and veins, and shoved into one of your knee ligaments might make you use the word “swollen” in error when you are 8. It has to feel AWFULLY strange to have something IN there.
The question is – what do you do about it? When I ask Meghan to straighten out her right knee, she can’t. She can’t “sit like a pretzel” in school, and she can’t put her leg straight out in front of her. Her range of motion is clearly restricted.
Lots of arteries mentioned here, but the femoral is one of the large ones, that branches out. When they did her surgeries, three of the times they entered through the left femoral artery, and pushed the camera over and down to the right knee.
For them to say now that there are feeders from the distal superficial femoral artery, it seems that puts them right at the spot of the AVM.
So, now what?
I guess I am no better off than I was if I didn’t have the report. Aside from feeling a bit empowered, I have NO idea if this means she needs surgery – or not. I have no idea if it is OK to let this mass stay there, even though she can’t run, or jump, or do lots of things she wants. Maybe it is OK, and we will just watch it – every 6 months like the thyroid. Maybe it has to come out.
I guess I will find out tomorrow.
But, for Meghan it doesn’t really change her reality. She will have pain and restrictions with or without the surgery. This thing can easily come back – even if they get it all. So for now every single step she takes is internally a painful reminder to her, of what she has been given to endure.
It is amazing to me how infrequently she complains – about anything. She is my hero.
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.
n 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
Lots of 
beatingcowdens 