Wednesday, January 21, 2015

The date is Friday, January 22nd, 2010

We arrive at the cardiologist's office. The nurse does an EKG and then we're told she will be having an echo. The person who did the echo was awesome and put both Nicole and I at ease.  I will always be grateful to her.

After the echo was done the doctor comes in.  He was very nice.  We were told a lot of information this day and this is the day our whole life as we knew it changed.

First we are told that Nicole had been born with a large 2.4 (or so) cm hole in the lower chamber of her heart (ventricular septal defect VSD) as well as several smaller holes (referred to as swiss cheese holes) also in the lower chamber of the heart.  I don't remember if the hole/flap in her upper chamber (atrium septal defect ASD) was discovered this day as it is very hard to see on an echo.  We were also told that because of the lack of diagnosis  she developed Eisenmenger's syndrome which is a rare progressive heart condition that occurs mainly with VSD's that aren't diagnosed which causes reverse shunting of the heart.  This causes the oxygen rich blood that should be going to the lungs to go to her extremities instead because of this lack of oxygen in her lungs she has blue/purple fingernails and toenails.  We were also told because of these congenital heart defects she also developed pulmonary arterial hypertension (PAH/PH).  I had never heard of this but I knew enough medical terms to know it had something to do with lungs, arteries, and high blood pressure which it does.  Basically, your lungs have a blood pressure (not associated with your blood pressure that's taken at every doctor's appointment)  PH causes the pressure within the lungs to rise which causes the arteries in the lungs to narrow and close.

We were told there's no cure and it's usually fatal.  The only "cure" (which isn't really that) is a lung transplant which in Nicole's case would have to be a lung/heart transplant.

We were told that she wouldn't be able to work and hold a full-time job.  That the medications available to treat the disease would only slow and maybe stop the progression of the disease but not reverse it.

We were told that Nicole would never be able to get pregnant as the stress on her heart could be fatal.  We were also told should would have to get routine monthly blood work, be on oxygen at least at night while she slept and while she's home for the rest of her life.

We were also told that to be "officially" diagnosed she would have to have a right heart catheterization which would mean driving to the children's hospital in Tampa.  This will be another blog.  The doctor was confident though that this was the diagnosis because the pressures were severely high.

Five years later.... Nicole is twenty years old now.  She is getting a Bachelor's of Fine Art in Illustration online and is an incredible artist (yes.... I am bias)!!!!!  She is on oxygen now 24/7.  She is on a triple therapy regime for the treatment of her PH which includes two different oral meds as well as a continuous medication that she receives through a catheter in her skin through an infusion pump. About once a month she has to change the site usually because of infection and when she does it causes great pain for the first seven to ten days for which she must take narcotics to control that pain.

She has to get a monthly pregnancy test which is a requirement by one of the medications as it is known to cause birth defects.  She also requires a whole slew of blood work every three months to keep tabs on her platelet count (which is chronically low), her red blood cells, her potassium levels, her magnesium levels etc.

She sees her PH specialist every three months; her primary care physician every two months; she sees a rheumatologist for benign hypermobility joint syndrome which is also something she has had since birth which was diagnosed in 2011 every six months; she sees her psychiatrist for OCD and generalized anxiety disorder that was diagnosed in 2004 every three months and she is monitored at the University of Florida Congenital Heart Clinic as well as the Lung Transplant program and goes there  for pulmonary function tests and other lung function tests as well as a EKG and echo every six months.

I am so very, very grateful that the medications keep her stable, however, the side effects cause their own problems from chronic low platelet count to chronic nausea, diarrhea,  joint pain, site pain and dizziness among others.

We always tell Nicole she is one in a million because when she was diagnosed with PH I believe the statistic of children who diagnosed with  this disease was 1 in 2 million.  Both PH and Eisenmenger's are rare diseases according to the National Organization for Rare Diseases (NORD) which means less than 200,000 Americans a year are diagnosed.

The medications for PH are considered orphan drugs because they are rare they are extremely expensive. Nicole's infusion medication alone costs more in 2 months than my husband makes in a year. Fortunately, since Nicole is on disability the insurance she currently has covers all her meds with no out of pocket costs.  I thank God for this everyday.  She loses her insurance later this year and will have to switch because her insurance is for chronically ill children up to 21 years old.  So I don't know if new insurance will cover it without a co-pay.

While our lives were changed forever this day I am grateful each day for Nicole, the doctor's, the medication etc.  I still have trouble understanding how a congenital heart defect wasn't diagnosed for fifteen years.  If it had been diagnosed she wouldn't be sick like she is.  I guess this is something that God doesn't want me to understand.

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