Today is Rare Disease Day...

The last day of  February is Rare Disease Day. A rare disease is one that affects fewer than 200,000 people which is defined by the Orphan Drug Act of 1983.

There's nearly 7,000 rare diseases affecting nearly 30 million Americans. 1 in 10 Americans suffer from a rare disease.

My daughter, Nicole, has more than one rare disease. She has pulmonary arterial hypertension (PAH; PH) which is high blood pressure within the arteries of her lungs that can lead to heart failure. She has Eisenmenger's Syndrome which is a rare progressive heart condition that develops from some congenital heart defects (her defect is one of them) . This disorder is characterized by the increased blood pressure in the main pulmonary artery connecting the heart to the lungs and improper blood flow to the heart. She also has benign hypermobility joint syndrome which in some medical circles is Ehlers-Danlos Syndrome (EDS) which is a group of hereditary connective tissue disorders. The only way to get a true diagnosis of EDS is through genetic testing.

I didn't realize so many of the diseases that I had heard of are rare diseases such as Scleroderma; Cystic Fibrosis, Lupus, Multiple Sclerosis just to name a few.

I have changed my profile picture on Facebook to the perwinkle ribbon which is the symbol for PH in honor of Rare Disease Day and Nicole to hopefully make people more aware of some of these and the need for research so cures can be found for my daughter and for all the others with rare diseases.

Nicole's Narrative

Nicole had to write a narrative for school that relates to a real life experiences that teaches or show a lesson. She finally got it done. I think it is very good but also saddens me at the same time. I did get her permission to share it.  I do homeschool Nicole and she is enrolled in an accredited Christian homeschooling academy. 

1.
I feel invisible sometimes.
It makes me very visible in many ways.
People judge me because of this invisibility, but that's because they don't understand. They of course don't see it.
What am I referring to? My illness.
This illness is very invisible to others, and this makes people judge me.
"Why is she just sitting out when we're all working? She must be very lazy."
"Why does she have a handicap placard? She doesn't need it."
"Why does she have to have special treatment? She looks fine to me."
These thoughts, although understandable, are hurtful.
I know people think these thoughts about me. Why shouldn't they? It's human nature. I'm guilty of doing the same thing sometimes.
However, one shouldn't judge. Just because somebody is different from you doesn't mean that they're necessarily bad. This concept that people have is called prejudice.
Again, it's human nature to have these thoughts. I consider myself prejudiced about some things myself.
However, I shouldn't be. Nobody should be.

Sometimes my disease is visible though. The thoughts are completely different then. They express sympathy more than prejudice.
"Why does a teenager have oxygen? It's sad that there's something wrong with her."
Or, they might be prejudice. I don't know.

2
Doctors are morons.
Why, you ask?
I don't know. I just know they are.
You might be thinking it's very negative of me to be thinking something like that. You might be right, but, no matter how right you are, it doesn't change the fact.
I've been misdiagnosed left and right.
"Oh, you have joint pain? Must be growing pains."
"Oh, you have shortness of breath? Must be asthma."
"Oh, the shortness of breath isn't getting better? Must be a stamina issue. You still have asthma by the way."
I've even been misdiagnosed when the results of a serious illness have been staring the doctors plain in the face.
I had a chest x-ray when I was four. Nobody saw any signs of something being wrong with my cardiopulmonary system.
I was sick all the time as a young child. Everyone thought it was normal when it probably wasn't.
I've been to a pulmonologist who should have seen something wrong. He never did.
I had an EKG when I was seven. The cardiologist who read it signed if off as normal when it would have never been normal.
I've had purple fingernails all my life. Nobody knew it meant something.
Only when my mom got a tiny bit more involved did the doctors realize that something was wrong.

Doctors only use you for money.
They don't really listen to patients and caregivers sometimes. Half of the time the doctors think that they are just being paranoid.

3
Why do people have to ask questions?
They're curious, of course. They want to know more than they already know.
But sometimes questions are very annoying.
And why do people assume?
They're just ignorant. I don't think there's any other explanation to this.
A lot of times assumptions hurt though.
"Are you going to die if you do this?"
"Are you going to die if you do that?"
"You're gonna die if you miss one dose of meds, aren't you?"
"You wouldn't be able to handle doing this, so I'm not going to invite you to do this."
"You're just going to hold us back if you come along with us."
I realize that I am a bit of a burden sometimes with my frequent resting and medicine schedule, but you shouldn't assume that.
Just because I might hold you back doesn't mean that you and I won't have a good time.
I'm sure you just don't want to be seen with a chronically ill person.

 4
Sometimes you gotta fight.
Fight for what you need.
A lot of people don't fight. It could be because they're afraid to, or simply because they don't want to.
But if you do fight, you have a good chance of getting more than if you don't fight.
My mom always fights for me. For medication, authorization, insurance, doctors and a lot of other things.
She did hit obstacles along the way, but that didn't stop her.
She just kept going.
And sometimes, we get more than we expect.
Like that one time we got a trip to Hawaii because my mom fought for payment help with a new medication.
She was able to single-handedly change the distributor's policy, and I was honored to be patient of the year. With that, we got to go to the Global Sales Meeting in Honolulu, Hawaii.
That was pretty rewarding. I'm sure it especially was for her.
So sometimes, when you fight, you not only get what you want, you get much, much more.
And plus, somebody's gotta give those stubborn people a challenge.

5
Friends are amazing.
They care about you and love you.
They help you, listen to you, and encourage you.
Or at least that's what they should do.

Friends that are in similar situations than you are also amazing.
They have more understanding of what you are going through so they can help you better.
They might even be able to fight with you.

Lessons
People are prejudiced
Doctors are morons
People are ignorant
Determination is a virtue
Friends are amazing

I guess the fourth point offsets the first three because fighting can turn all of those people and doctors into smart people.
And the fifth one is special in that it encourages the fourth point.

Of course, I don't speak for everyone on this.
Being prejudice and ignorant is just part of human nature.
Be idiotic might be too. Sometimes it seems that way.
Not all friends are helpful and good listeners.
But I think the fourth point is true in pretty much all situations. That point is probably the best point of the series.

I am so proud of Nicole for writing this paper. I am even more proud that she believes number four outweighed all the negative things. I have tried to impress this upon her. Yes, I know we have been through a lot of negative and bad things but there are good things and good people that we wouldn't have if it wasn't for those bad things.

A Second Opinion...

 I decided that I wanted a second opinion about Nicole's lung disease pulmonary arterial hypertension as I have had reservations about the care she's receiving from her current ph specialist.

I meant one of the local PH specialist at the local support group meeting and he agreed to see Nicole. His office doesn't take Medicaid but he said he would run it through for her. I talked to children's medical services (CMS) which is the Medicaid plan Nicole has. I was told if her cardiologist sent in some letters stating why it was necessary for Nicole to see him they would take it under advisement and consider covering an out-of-network doctor. I had another nurse after her appointment tell me this wasn't true and they don't pay for any out-of-network doctor's.

Nicole has severe PH caused by a large VSD that wasn't diagnosed until 2 years ago when she was also diagnosed with PH. He said he agreed with the diagnosis. He only had the records from the cardiologist and not the PH specialist. He said that from what he sees at the time of diagnosis she was a borderline Stage 4 (this is the worst stage) and he thinks that she has probably dropped back down to a little above a Stage 3 since her drug therapy has started. He said as well as her other drs. have said that the pressures in her pulmonary arteries will not come down until her heart defect is corrected and her defect can't be corrected because of the PH. He said that the PH was the much more serious of the two. He said he tends to be a little more aggressive and he would have her on Remodulin IV pump with the hopes of her taking part in a study with an implantable pump that is inside the abdomen area. She would be a good candidate for this because of her heart defect. She would need to be on a stable dose (basically this means the dose that they want her on long term as they have to start at a low level and work up) for four months before she could participate. The only issue I have with this is that there are some more complications and it isn't as easy as Tyvaso. It also has to be implanted in the hospital whether it is the IV through a cathedar or the implantable. He did mention something about air getting in the line can be bad for a heart defect. He also said because of her heart defect her PH has progressed very slowly and more than likely she has had it most of her life. He was also concerned that she hasn't had a catherization (this is the most accurate way of obtaining accurate pulmonary pressures but also the most invasive) other than her initial one diagnosing her so there's no information to compare after she's been on therapy. He also said that she would need a lung transplant at some point down the road. I probably would have asked more prognosis related things but Nicole was there and I don't want her to be upset.

She also did a 6MW ( a test that is used to measure the exercise ability it is where you walk for 6 minutes and your distance along with you oxygen saturation levels are measured). She was on 6 LPM and still her O2 stats fell at least twice below 78% (normal is 98% which Nicole rarely hits 90% and this is called cynosis which is blueness) and the nurse made her stop until it went back up. So needless to say she didn't do well. They were also surprised when I said when she had her last one in Oct. it was without O2. He said (contrary to her current PH specialist) that her O2 stats should never be below 85% and she needs to be on whatever O2 that keeps her there. The current PH doctor had told her that she didn't need to be on 8 LPM (liters per minute) at rehab and it was alright if the stats dropped.

Since this appointment she has gone to wearing a mask at rehab which is much better at hi-flow oxygen (anything above 6 LPM) than the cannula's. She is using 12 LPM and it is still hard to keep her stats above 85. Her time and intensity has to be backed down.

I'm not sure what to make of the second opinion. I really like the doctor and he is excellent with Nicole and I feel like even though she is very sick there is still hope I don't feel that most of the time with the other doctor. I don't know if she will be able to switch from Tyvaso to Remodulin because her current PH doctor has almost no chance of going along with this.

I am trying to figure out how to proceed. There are not a lot of ph specialist to begin with and then a lot of adult doctors don't take Medicaid. I know of another group of doctor's here locally (they are pulmonary, not cardiac) but they won't see her until she's 18. The cardiologist would like Nicole to have a transfusion due to her hemoglobin issues and also put her on a hormone that the kidney produces (I can't say it and don't know how to spell it off the top of my head as it is very long) that regulates the amount of red blood cells in the blood in hopes of raising her hemoglobin and well as her oxygen staturation levels. I don't know when or if this will happen.

The ph specialist she saw last week and her cardiologist have been playing telephone tag with each other so I am hoping that they will talk soon so I know what we are looking at.

I feel better with a second opinion but it doesn't really change anything about her diagnosis. The doctor asked Nicole what are the top three wishes she had in regards to getting rid of... these were fatigue, shortness of breath and joint pain (not sure how much of this is related to drug side effects and how much is her BHJS/EDS).

I have to believe that God will provide the right doctor and treatment that Nicole needs. I hope that he will give me the wisdom to know what is best for her with minimal risks and side effects. I have tried to get quiet about this but it is hard when there doesn't seem to be any options but what we already have at this point.

February is CHD Awareness Month

 February is CHD Awareness month.  My daughter, Nicole, was born with a congenital heart defect but we didn't know it until she was 15 years old.  CHD awareness week is Feb. 7th - 14th and I will write more about Nicole's story regarding her CHD at this time but in the mean time here are some facts regarding CHD's:
 
•Congenital heart defects are America’s and every country’s #1 birth defect. Nearly one of every 100 babies is born with a CHD.

•Congenital heart defects are the #1 cause of birth defect related deaths.

•Congenital heart defects are the leading cause of all infant deaths in the United States.

•Each year approximately 40,000 babies are born in the United States with a congenital heart defect. Thousands of them will not reach their first birthday and thousands more die before they reach adulthood.

•Each year over 1,000,000 babies are born worldwide with a congenital heart defect. 100,000 of them will not live to see their first birthday and thousands more die before they reach adulthood.

Lifelong Disease

•Almost half all children and adults with complex congenital heart disease have neurological and developmental disabilities.

•There are an estimated 2,000,000 CHD survivors in the United States.

•For the first time, more than 50% of the CHD survivors are adults.

•10% of all CHD cases evaluated in an Adult CHD clinic are first diagnosed in adulthood.

Economic Factors

•91,000 life years are lost each year in this country due to congenital heart defects.

•The cost for inpatient surgery to repair congenital heart defects exceeds $2.2 billion a year.

General CHD FACTS

•More than 50% of all children born with congenital heart defect will require at least one invasive surgery in their lifetime.

•There are more than 40 different types of congenital heart defects. Little is known about the cause of most of them. There is no known prevention or cure for any of them.

•In the United States, twice as many children die from congenital heart defects each year than from all forms of childhood cancer combined, yet funding for pediatric cancer research is five times higher than funding for CHD.

Research Allocations & Impact

•Congenital heart defects are common and deadly, yet CHD research is grossly under-funded relative to the prevalence of the disease.

•Only one penny of every dollar donated to the American Heart Association goes towards congenital heart defect research.

•Of every dollar the government spends on medical funding only a fraction of a penny is directed toward congenital heart defect research.

•The NHLBI has stated that Congenital Heart Defects are a serious and under appreciated global health problem.

•In the last decade death rates for congenital heart defects have declined by almost 30% due to advances made through research.