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The journey we never saw coming

  • On April 22, 2012, I gave birth to my sweet baby boy Kohen. He was a healthy 7 lbs 3 oz with a full head of dark hair. He seemed perfectly healthy and had no problem coming into this world. The day was spent oo-ing and ah-ing not believing he was finally in my arms. They took him to do the newborn screen and the only thing they said was wrong was he was slightly jaundiced. I had to spend an extra five days in the hospital for a uterine infection and he was able to stay with me. He was the best baby! He basically slept the whole time, barely cried, and ate like he should. When we were finally able to go home, he weighed 6 lbs 15 oz but it is normal for newborns to drop a little weight.

    One night I was feeding him and he started vomiting more than normal.  He barely had two ounces of breast milk and threw up five times that amount. Attributing it to him maybe having reflux, it wasn’t too alarming since it was only that one time. We started noticing him becoming more and more lethargic and his color was getting worse. When we went to his two-week appointment, they informed us of his abnormal newborn screen. They didn’t explain what part of it was abnormal but said they needed to do follow-up testing to be sure. They were also concerned that he hadn’t gained a single ounce. He was still 6 lbs 15 oz. They had me put him on formula and scheduled him for a weight check. We went on just waiting for the results to come back.

    On May 16, when Kohen was three weeks old, the doctor’s office called. The nurse frantically told me we needed to be there as soon as possible to do more blood tests. She said if I could be there in ten minutes I needed to be. I packed up Kohen and headed there. We arrived and the doctor came in and explained to me that Kohen had a life-long genetic disorder called Congenital Adrenal Hyperplasia (CAH). Not even knowing what it was I broke down. They had to test his electrolytes, potassium, and sodium to make sure he was doing okay. I waited for what seemed like eternity for the results and the doctor came and said “Mom, this is kind of scary but we need to rush your son by ambulance to the hospital and possibly life flight him to Primary Children’s Hospital.” My world was shattered. She explained that his sodium levels were very low and his potassium levels were very high, he could go into heart failure at any minute. We were rushed to the ER so he could be stabilized. The ER doctors didn’t even know how to treat him so they had to call a pediatric Endocrinologist 40 miles away to figure out a protocol. They did a blood test to check his 17-hydroxyprogesterone levels. Normal range is between 3 and 90 in children, but Kohen’s levels were 8012. Six hours and four blood tests later he was stabilized enough that he did not have to be life flighted and we were able to go home.

    The next morning we had to go meet with the Endocrinologist to see what this disorder entailed. He explained that Kohen had Salt Wasting CAH, the most severe form. His body did not produce any cortisol, which controls blood pressure, blood sugar, and the immune system; or aldosterone, which controls hormone production. His body also gets rid of all the salt it is supposed to store to stay alive. We now had to start giving Kohen hydrocortisone, fludrocortisone, and table salt in his formula every day. The next few weeks were very difficult. His body was almost in overdrive and panic from actually receiving all the medicine; he screamed for hours on end. My no longer lethargic baby was finally showing me the fatigue I was supposed to have from being a new mom. He started gaining weight and his color was a night and day difference from before. He had to have a blood test every 3 days to make sure he wasn’t going into crisis again. We also had to adjust his medicine every week to make sure he was getting the right amounts of salt. After a few weeks the blood tests became less frequent and we were able to adjust to everything.

    Kohen is now 10 months old and thriving. His cheeks are incredible and his chunky thighs are to die for. This condition is easily managed though it is a life-long journey of blood tests, bone scans and taking steroids every day to stay alive. He has been to the ER five times since he was diagnosed. We have to triple his hydrocortisone dose whenever he has a fever or is sick in any way. We also have to carry an emergency shot in case he goes into adrenal crisis. This has all become routine to my family and I. I premeasure all his medication for any baby sitter to make sure he gets them and always have extra in case he needs stress dosing.

    Newborn screening saved my sons life. If it didn’t exist or they didn’t test for these conditions, he would have died from heart failure and we probably would never have known why. I will be forever grateful for modern medicine and how far it has come.

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