The Face of Adrenal Insufficiency

It was July of 2009 and I had spent the past year very carefully planning to start our family.  It had been a tough few years dealing with some medical issues of my own but I had made some life style changes and was feeling great.  I was in excellent shape.  I was off any sort of medications.  I was in a comfortable spot at work and I was methodically keeping track of my cycle so that our chances of getting pregnant were high.  Of course, I was elated to find out I got pregnant so quickly. 

Like many women, I always wanted to be a mom.  I married a bit later than others and we put off having children for awhile so I was in my mid 30’s when I got pregnant.  I was just so incredibly excited…from maternity clothes and obstetrician appointments to baby gear and pregnancy & parenting books…I was so filled with joy.  As people do, they would ask me…do you want a boy or a girl?  I had dreams for either but most importantly, I just wanted the baby to be healthy.  I took incredible care to make sure I did all the right things when I was pregnant.  Of course, I worried about all the silly things that new mothers do but I couldn’t have imagined what was to come and the effect it would have on my life.

My son, Tristan, arrived in April of the following year.  It was surreal holding him in my arms.  He was absolutely perfect (besides being jaundice) and seemed perfectly healthy.  Three days later, my husband and I brought him home.  My mother had been staying with us for the past couple of weeks so it was nice to be home and have all the extra help.  Then, when Tristan was 6 days old, a man called to tell me that the newborn screening that was sent to the state came back and there was an area of concern.  To be honest with you, from that point on is a blur to me.  I don’t remember a lot of it.  My husband said I cried…a lot.  I just remember being in a daze driving to our appointment the next day.  I am told that there were many, many blood draws.  Those results just basically confirmed what we originally were told…that Tristan had a hereditary condition called Congenital Adrenal Hyperplasia and the more severe form, salt-wasting CAH. 

We were set up immediately with the only pediatric endocrinologist in the area.  She gave us old copies of information and a pamphlet from the MAGIC Foundation.  We followed her regimen of medications, got bloodwork done when we were told and went to every appointment with a list of questions. 

The entire thing was so terribly frightening.  I was a new mother with very little baby exposure as an adult.  Only one of my close friends had young kids.  Once my mother left, there was very little support for just plain mothering, let alone having a child with a special medical need.  Each day I watched him like a hawk wondering how I would know if he was dehydrated or what ‘lethargic’ meant.  I did some research and visited MAGIC’s website a few times but life continued on and I had to make the agonizing decision of going back to work.  After having a woman from a friend’s church watch Tristan for 3 months, we ended up switching to a small at-home day care with a woman I had known for a few years.  The best part was that her mother lived with her and would snuggle on him for most of the day since he was the only baby there. 

Somehow, we survived that first year and then the next and the next.  As many first time parents do (not to mention CAH parents)…we over-reacted to every illness and probably most injuries.  There was a lot of money spent on emergency room and doctor visits.  We were just scared.  When he was two, we put him in a Christian day care, which has truly been a blessing to this day.  They let me train and retrain staff whenever needed.  They all carry a ‘Signs and Symptoms’ card that I got from Adrenal Insufficiency United and are attuned to his particular needs and changes in behavior. 

When Tristan was two and a half, we decided to try for another child.  We knew there was a possibility of having another CAH child.  We had Tristan’s genetic testing done shortly after birth.  He showed a classic deficiency on one allele but the other mutation was rare.  Once we found out we were pregnant, we started worrying about what we were going to do if it was a girl.  At 8 weeks I began taking dexamethasone and at 11 weeks we found out it was a girl. 

While all of that was going on, we decided to have the genetic testing ourselves.  We were surprised when the results came back.  They compared Tristan’s mutations to our genes and found that while I carry the classic mutation, my husband was not a carrier at all.  The geneticist and our fetal maternal specialist brought us in for an appointment and among other things we discussed, they asked if Tristan was my husband’s child.  I was shocked and offended at first but then they explained that the only other way that our son could have the condition is by a spontaneous mutation at fertilization, since this is a genetic condition and that those mutations were extremely rare.  With that in mind, we immediately stopped the dexamethasone with my pregnancy.  If the chances of having one child have a spontaneous mutation were that rare, we were sure the chances of it happening again were near impossible. 

Two weeks before our daughter was born, Tristan came down with what I later found out was the rotovirus.  It’s a common stomach bug that can last for 5 days or so.  That was our first experience with an adrenal crisis.  He had been sick quite a few times previously so it wasn’t our first time giving the injection or going to the ER.  This time though, he had to be admitted and it was evident that the hospital staff, even in the pediatric’s unit, knew nothing about how to treat him.  Under their care his condition worsened to the point that I requested we be transported to another hospital.  After a total of five days, we were able to go home.

That experience led us down the path we are on today.  Before that incidence, we had no idea that trained doctors and nurses, in a hospital setting, would not know how to treat our child.  Of course we knew his condition was rare but we assumed they would know things.  They did not.  I began researching again and found more information on MAGIC’s website and then saw information about the CARES Foundation and Adrenal Insufficiency United.  I joined a few Facebook support groups and began to talk to people. 

From hours of research and those support group discussions, I discovered that Tristan had been on the wrong medication his entire life and not just that but that he had also been over suppressed his entire life…which would explain the two year gap in his growth.  His endocrinologist was obviously inexperienced in CAH so we searched out a new doctor.  I also learned that not only would the hospital be unaware of how to treat him but any emergency personnel would be as well.  They would also not be able to administer his life-saving medication in an emergency because there wasn’t a protocol permitting them to do so.

It was extremely overwhelming and upsetting to find out that my child could die in the very care of individuals that were medically trained to save lives.  I am not a medical person by any means…I panic when I have to give blood or have a shot…but I had to learn how to care for my son and I had to find the courage to go out and teach others about how to care for him.  I reached out to the fire chief of the department closest to my son’s school and he graciously invited me in to discuss Tristan’s emergency care.  They were more than happy to hear about Tristan’s condition and how to help him if they ever need to.

Through a series of events that can only be explained by God’s divine intervention, I have been able to train over 300 EMS personnel in three different fire departments over the past year and a half.  They have invited me back to review and re-train soon, as well.  In October of last year, a protocol was finalized in one county so that Tristan can receive his medicine from EMS if needed.  And in October, I was also appointed, by the State Surgeon General of Florida, the position of Family Representative on the Emergency Medical Services for Children’s Advisory Committee, to have a voice on the emergency care for children in our state.  This has opened doors to educating others on adrenal insufficiency that I could have never imagined.  I have big goals for the future…training emergency room staff, pushing for state protocols for adrenal insufficiency, finding out more information on the hydrocortisone pump for my son and pushing for an auto-inject of Solu-cortef.  By just doing one thing at a time, I have accomplished so much in making sure my son is safe.

My advice to other CAH parents…get educated.  Do not rely on the medical community to know more than you.  Read the book, “Congenital Adrenal Hyperplasia: A Parent’s Guide,” by Scott Rivkees.  Learn about your child’s bloodwork.  Find support groups through social media or through organizations like MAGIC, AIU or CARES.  Practice giving the injection with an orange.  And call your local fire chief.  You may surprise yourself at the courage you have inside because of your passion and love for your child!

~ Lisa