The story of Sarah

On December 8, 2017, weighing at 7 lbs. 8oz., my son Quentin was born with a full head of hair. A mothers love is a mothers love. It was love at first sight with my daughter and now with him as well. He was mine. A perfect pregnancy all the way to the end and a perfect delivery with a fast time home. Born on Friday at midnight, the day it snowed after 13 years of nothing and going home Saturday the next day… I was on my way to recovering in a few days with the way things were going. My son Quentin was in our arms and everything was transitioning very smoothly at home and with our daughter of 3.5 years old. Monday we had to take him to his 1st checkup. This is totally routine. The very next day, the pediatrician called us to let us know that something came out abnormal in his heel test and that we needed to go in immediately, but to not worry. I didn’t.

I knew that we had a great son and I went in as normal as can be. When the doctor came in, he admitted how something like this is worrisome and how abnormal heel tests sometimes come out to be a false negative; however, they still wanted to take the precaution and rescreen him to be on the safe side. His potassium levels came out really high, his sodioum levels really low and another positive result for CAH (Congenital Adrenal Hyperplasia). At this point, he advised me that we needed to take Quentin directly to the E.R. and that he would have a room waiting for him since this is a life threatening condition.

I asked for a moment to call my husband. When they gave me some time in the room by myself, I called my husband and began to blurt out everything that had been explained to me. I was hysterical. I’m always the calm one. “Something about potassium! He has no salt! The doctor said he’s gonna die! I don’t know what to do! I need you here!…” I cried the entire time I waited for my husband. The doctor came in again and explained everything to him. My huband tried to calm me, “It’s manageable. As long as we take care of him. Blah Blah Blah..” We needed to act quick.

We went home to get a change of clothes and off to the E.R. we went. There was no bed waiting for him. Just a little room jammed with sick people of all ages… My son being to yougest. After 4 hours of waiting to see someone in the E.R., I had to leave him at the hospital with my husband to care for my daughter which was the hardest thing I ever had to do. They got him a bed and finally after 8 hours at 12am they moved him to a room on the fourth floor with the chemo patients. You would think that a 4 day old newborn that has a life threatening condition would have priority to a room. I guess that’s not the case at all.

I was so upset at every thing that I cried myself to sleep only to wake up at 6 am to go back to the hospital. They were drawing blood from him every 12 hours and administering medication to him at every feeding. Different M.A.’s, nurses, and doctors every day was overwhelming to us. Everyone had a lot of information about the medications Quentin was taking but no one could tell us exactly what this thing that was taking over my son was and how our future would be changing. The point was to find out which level of severity his condition he had and what the proper dosage level he was going to need to survive. SURVIVE. 

Adding up to four medications and several days later, it was determined that he has the most severe case which is Salt-Wasting Congenital Adrenal Hyperplasia. We now know after much of OUR OWN research that he has to take medication for the rest of his life… no matter what. We now know that this condition is extremely rare to the point that if we need to call an EMT for assistance, that they can’t even assist us at all because it will be most likely that they are not knowledgable about the condition. We need to make sure that WE administer his emergency dose before we even head to the hospital on an ambulance. Whomever is with Quentin NEEDS to know what the signs of an adrenal crisis are because this is something that could take his life. 

There were days that I questioned life and faith trying to understand “how could something like this happen to us?” My husband was my rock throughout the entire time we tried to process this. It had been a struggle teaching ourselves and learning about everything… and we are still learning. This takes time.

Having to give him his medication three times a day is a constant reminder that I cannot give up on my boy. This is part of our lives now and this will be what he grows up to know is NORMAL. I finally came to the conclusion that if I want my child to grow up to be positive and consistant with treating this condition himself then I have to lead by example.

Congenital Adrenal Hyperplasia is rare, but now when I see my son, he is rare. He is unique and a blessing to my life. I cannot see my life without him.

I love you, Quentin, my boy.