A Glimpse Into Nicole' s Life

I will start this by giving a brief overview of Nicole’s life to this point.

Nicole was born five weeks premature and weighed 4 lbs. 13 oz. She had some delays due to this in milestones especially in speech.  One of the symptoms of CHD’s is failure to gain weight. Nicole has always been in the 10th percentile on the growth chart until a couple of years ago.  Another symptom is cynosis, which is blueness of the lips, skin, or nails. I don’t know how long Nicole has had purple fingernails but as long as I can remember. I wish that I had known this meant something.

When Nicole was four I switched pediatricians. Her former pediatrician and the County believed that she should be in a day care setting as her social skills as well as others were lacking. I didn’t agree with this and didn’t have peace about it but “they knew best”… right?

I put her in day care three days a week for half a day. She attended for less than two months and during that time had two bouts of strep throat and two bouts of pneumonia. During the second bout of pneumonia I had to take her to the ER with a temperature of 105.6. X-rays showed that she had double lung bacterial pneumonia. We also found out that she had a severe allergy to dust mites as well as some other allergies. She was in the hospital for five days. She never went back to day care.

When she started kindergarten she missed over thirty days during the school year due to illness. Around the age of six she was diagnosed with asthma and put on medication. One of the first slip ups were when she had an endoscopy for some bowel movement issues. She was put to sleep so they had her hooked to an EKG. The reader saw a question on it but the doctor didn’t seem concerned as he told us the EKG was normal. This was impossible.

Out of all the doctors she has seen in her life not one of them have ever questioned her purple fingernails. At 10 years old Nicole started exhibiting some obsessive tendencies with washing her hands. I took her to a counselor and psychiatrist and she was diagnosed with generalized anxiety disorder and obsessive compulsive disorder (OCD). This explained why she had such high anxiety about things and why she worried about things a child shouldn’t. She was put on Zoloft which she still takes. She also sees the same counselor.

On Jan. 23, 2010 when I took Nicole to the pediatrician for a check up the first thing I addressed was her purple fingernails. The doctor put a pulse oximeter on her finger (it clips on you finger to measure the amount of oxygen (O2) in your blood). A healthy person will have a reading of between 98 – 99% Nicole’s read 78%. The doctor thought his machine was broke so got another one and it read 82%.

The next day we were at the cardiologist and had the diagnosis of Ventricular Septal Defect (VSD) and Pulmonary Arterial Hypertension (PAH). I don’t remember much of this appointment. When Nicole had a heart catherization ten days later it was at this time that the cardiologist told us that heart surgery to close the hole wasn’t an option. If the hole was closed her lungs would cease to function. We were in the hospital for 36 hours to monitor Nicole’s blood pressure while they started her on Sildenafil which is Viagra. We came home with oxygen for the ride home and met the respiratory therapist at our house to get an oxygen concentrator set up for use. She would need to use oxygen while she was sleeping. The doctor believed it would be beneficial for her to use it “whenever she was home.”
The follow up appointment is when we realized how bad it really was. PH has no cure. The medicines will only slow the progression and not stop it. Nicole was then put on a second medication one month after starting the first. This drug requires that she have monthly bloodwork for liver testing as the medicine may cause liver damage. We were also told that Nicole will not be able to have children of her own because of her health it would be too much stress on her heart and lungs and because her medication causes serious birth defects. This was a hard pill to swallow. She also has a pregnancy test each month. She will be on these medications for life. The doctor also said “years down the road it is likely she will need a lung/heart transplant.”

Nicole takes three PH medications (in addition to Zoloft, allergy medicines and a handful of vitamins). She takes one pill 3x daily; one pill 1x daily; and an inhaled medication through a nebulizer 4x daily. There are a lot of side effects from the medications including coughing, nasal congestion, sore throat, nausea, dizziness, difficulty sleeping and the list goes on. They can also suppress the bone marrow (white blood cells) and the platelet count (red blood cells). The medications are very expensive costing without insurance approximately $25,000 per month. With our insurance the co-pay is about $200. Fortunately, we have assistance that pays our co-pays for us. Nicole also has to drink a bottle of Gatorade each day to combat dizziness.

Nicole’s lips will turn blue if she’s without oxygen for long periods of time. We have a portable unit that I take with us if we will be gone for more than a couple of hours in case she needs it. Nicole gets tired very easy just walking and standing for extended periods of time. One of our neighbors has loaned us a wheelchair but he could ask for it back anytime. I would like to be able to purchase her one in the near future. I am trying to save for this. I don’t know if our insurance would cover this or not.

All in all Nicole is blessed. I don’t believe that God would have given Nicole her gift as an artist if she had a healthy body. I am blessed to have such a beautiful, kind, compassionate, courageous and loyal daughter. I have learned much from her.

We are all so blessed as she is currently stable. I hope for more but I am grateful for the stability.

Congenital Heart Defect (CHD)

A congenital heart defect is a defect present at birth. One in every 100 – 150 children are born with a CHD. CHD’s are the most common birth defects in the United States. There are roughly 35 different types of CHD’s. There is no cure for any of them.

Ventricular Septal Defect, referred to as VSD, is the most common of the CHD’s with approximately 1 in 8 of children born with a CHD having this defect. Bascially, it is a hole that is between the right and left ventricles of the heart.

More children die of CHD’s than from all the childhood cancers combined. Only one penny of every dollar donated to the American Heart Association is used for CHD research. The Children’s Heart Foundation is the only organization strictly for CHD research.

Your heart has two sides, separated by an inner wall called the septum. Each side of your heart has an upper and lower chamber. The lower right chamber of your heart, the right ventricle, pumps blood to your pulmonary arteries. The blood than travels to your lungs where it picks up oxygen. The upper left chamber of your heart, the left atrium, receives the oxygen rich blood from your lungs. The blood is then pumped into the lower chamber of your heart, the left ventricle. From the left ventricle the blood is pumped to the rest of your body through an artery called the aorta.

In Nicole’s case she has a VSD. It is large about 2 1/2 cm at its widest point. It is clearly visible on the sonogram. I’ve been told she has two other smaller holes but I’m not sure where they are. In most cases, this heart defect should be detected within the first two years of life. Some holes, if small, will close on their own. For large holes, like Nicole’s, open heart surgery is required to close it. The major sign of this heart defect is a heart murmur which Nicole doesn’t have. I’m told it is because her hole is so large. There are other symptoms which looking back on she had most of them. If her first pediatrician hadn’t been such an idiot or didn’t think I was just being paranoid she would have had it diagnosed. There were many other slip ups and incidents when it should have been diagnosed but wasn’t. Only God knows why.

Eisenmenger’s Syndrome by definition is secondary to an uncorrected CHD that leads to pulmonary hypertension (PH), reversal of flow and cynosis (blueness). The previous left to right shunting is converted to right to left shunting which is the reversal of flow which is what causes the blueness

Pulmonary Hypertension (PH)

Pulmonary hypertension (PH) is increased pressure in the pulmonary arteries. The arteries carry blood from your heart to your lungs to pick up oxygen. PH isn’t a disease by itself, but rather a result of an underlying condition.

Nicole has a rare form of PH called pulmonary arterial hypertension or PAH. PAH affects about 140,000 people worldwide. I believe it is probably more than this. The National Organization of Rare Diseases (NORD) has classified PH as rare. The criteria I believe for this is under 250,000 but I’m not certain of this.

In PAH the pulmonary arteries will become too narrow. The process puts added pressure on the right side of the heart. Over time, this can cause the right side of the heart to become larger and the walls of the heart to thicken. In a normal healthy person your pulmonary pressure should be under 25 when the pressure becomes over 30 you are diagnosed with PH.

With less blood flowing into the lungs and less oxygen making it to the rest of the body symptoms will include dizziness, shortness of breath, persistent cough and fatigue. Other symptoms can include chest pain and swelling of the ankles and legs.

The disease can develop slowly so you can have it for years and not know it. This makes it hard for doctors to diagnose. Many people may go through years of testing to rule out other conditions before getting diagnosed. Misdiagnosis is also very common.

There’s two common classification systems for PH. One is to distinguish PAH from other types of PH and the other is to describe the severity of the disease.

The World Health Organization (WHO) divides PH up into five groups: PAH makes up the first group. This is the group that Nicole falls in. PAH which has no known cause is called primary or idiopathic PAH. PAH which has an underlying disease or cause is called associated PAH or APAH. PAH which is inherited is called familial or genetic PAH. Nicole has associated PAH as hers was caused by her congenital heart defect.
 
The New York Heart Association (NYHA) created a system to classify the diseases severity. This is used to monitor the disease progression.

Class I: no symptoms with physical activity.
Class II: some symptoms with ordinary activity and slight limitation of physical activity (example would be shortness of breath caused by two flights of stairs, walking uphill, walking fast, gardening)
Class III: symptoms with less than ordinary activity and increased limitation of physical activity (example would be shortness of breath caused by one flight of stairs, light cleaning, golf, power push lawn mower)
Class IV: symptoms with any activity, possibly even at rest (example would be shortness of breath caused by rest, dressing, showering, walking at home).

I know that they classify these as mild, moderate and severe but I don’t know how they divide them up. Nicole is somewhere between Class III and Class IV and it is considered severe.

When I spoke in January to our monthly homeschool group meeting about Nicole and her illness I had the ladies do an experiment to illustrate what it feels like for Nicole to breathe. Feel free to try this at home.

Get a regular drinking straw and put it in your mouth, plug your nose and breathe through the straw for a minute. This illustrates what it is like for Nicole to breathe normally. Now get a coffee stirrer and do the same thing. This illustrates what it is like for Nicole to breathe after physical activity.