Today February 28th is known as Rare Disease day. A day to bring attention to the thousands of rare diseases that effect the children, and adults of our world. CAH is just one of them, but it has had a HUGE impact on my life. Emma Paige was born on August 5th, 2008 and was diagnosed just 7 days later. She had so many symptoms of being a very sick little girl. We were bound to the hospital for 10 days.
We were released from the hospital on August 15th. Sent home that evening to relax and try to have a normal life. I was given very specific instructions on her medications. Hydrocortisone compound, sodium solution and florenif. I was sent to a local small town pharmacy where they could make the compound to fit Emma’s needs. Meds every 6, 8 and 12 hours. It started out easy. I kept a chart and matched her meds to her feedings. We had a wonderful rhythm. Our second day home we went to meet Emma’s pediatrician. He drew more blood work. I was really starting to wonder if they would manage to drain her dry! Two short days after that we went to meet our first Endocrinologist at Children’s Medical Center Dallas. Dr. Dickson. He was AMAZING. We had a 3 hour one on one class where I was taught EVERYTHING about CAH.
I leaned that Congenital Adrenal Hyperplasia breaks down to: Congenital, born with it; Adrenal, adrenal glands; and Hyperplasia, enlargement. So basically in lame terms Emma was born with enlarged adrenal glands. Sounds simple right?? WRONG.
A healthy persons adrenal glands make several hormones: cortisol, aldosterone and androgens. They are all VERY important in the daily functionality of a body. Cortisol is a steroid hormone. It helps to regulate our energy supply, and blood sugar levels is also helps our body deal with both physical and emotional stress. Without cortical in our bodies during a time of physical stress the body can not respond normally, it will start to shut down. Aldosterone helps our bodies retain and get rid of excess potassium. Without enough salt in our bodies we would dehydrate, and too much potassium can cause heart problems. Last but not least androgens which are masculine steroids. Too many androgens in a body can cause some masculine effects in women, such as extra hair growth or deepening of voice and in baby girls. Androgens also send signals to the pituitary gland. It tells your body how much to grow and how quickly. With too many androgens your body will grow too quickly then the bone plates can close too soon an you would end up much shorter than you should have been as an adult even though you would appear as an extra tall child.
How many of you have I royally confused? I hope not too many and I hope I got all the details right!
Dr. Dickson informed me Emma very specifically has a form of Congenital Adrenal Hyperplasia know as 21-hydroxylase deficiency. She is a salt waster that produces almost no cortisol, or aldosterone and produces way too many androgens. He also told me that when they drew her blood at birth her 17-ohp level (another level they check to see how her body is working) was at 6,789. A normal 17-ohp is between 3-100. Go big or go home right? He took his time to draw diagrams on the tables, “tested me” and make sure I knew what I was doing, I was even given time to practice the injection on a piece of fake skin. He told me that in the case of illnesses Emma would need a stress does or extra meds to keep her body going, and in the event of an emergency (like a broken bone, head trauma or serve vomiting in which she can’t hold down her meds) she would need a solu-cortef injection to potentially save her life. What he didn’t explain is that this medicine is not carried on ambulances and paramedics are not allowed to administer it. Without that injection during a time she would need it she could go into a coma or even die. He also explained that this disease is genetic. My husband and I had a 1 in 4 chance of having another child with CAH, a 1 in 8 chance of having another girl with CAH. How can we carry a disease we have never even heard of? How does that make sense? I was 20 not even married a year and now I learned that any more children we decided to have could be as sick as Emma.
There is no cure for CAH. Just treatments. Those 3 medications saved my daughters life when she was born, and keep her healthy every day. Strange how simple they are but how much of a role they play in our not so simple life. So much information. So much confusion.
I left Dr. Dicksons office after scheduling another appointment for a month out, hands full of packets, newsletters, phone number and websites. I was still confused. Why did this happen to my little girl? But I was confident. I knew I could take care of her. I had a new found sense of relief learning that she would live a normal life and do just about anything she imagined.
Emma is now a 4 1/2 year old wonderfully smart and curious little girl! She loves to ask questions, learn, practice reading and writing. Looking back on my story, on what we learned about CAH, I never would have expected to be where I am today!
We have 3 girls, one affected, one an unaffected carrier and one with no CAH genes at all.We joke about having a 4th to see how close we can hit it on statistics. LOL
If you have any furter questions on CAH or on Emma, feel free to email me or check out T
he Cares Foundation. <3