Sisters With Addison's Disease

Olivia was diagnosed with Addison's disease at almost 3 years old in July 2008. Little sister, Kinsley, was diagnosed with Addison's @ 7 months in Feb. 2011. We now know they were both born with it! Addison's Disease is an extremely rare disease occuring in about 1 in 400,000 people. Also called Adrenal Insufficiency, the adrenal glands do not produce cortisol. Cortisol is a hormone essential to life, and effects almost every organ in your body. It helps your body cope with any type of stress, both physical or mental. It often goes undiagnosed until an emergency situation called an Addisonian Crisis. With lifetime daily steriods (Hydrocortisone) both girls are expected to have normal, happy lives...just with a little extra precaution and lots of extra love. We are so thankful both our girls were disgnosed before it was too late.

Saturday, February 12, 2011

I should start Kinsley's story with a little about big sister. Olivia was diagnosed with Addison's Disease in July 2008 when she was 2 years, 11 months. She started showing symptoms after a bout with strep-pneumo at 7 months old. Because up until that point, she showed no outwardly signs of Addison's, we all believed her adrenal glands were damaged by that bacterial infection and never thought she was born with it. She is actually 2 weeks into being weaned off seizure meds. Overall, she is a very normal little girl.
Now, here's the kicker. After all the years of medical drama with Olivia, we were hesitant to have another baby. But after Olivia was diagnosed with Addison's, and started steroid treatment, we thought siblings were something we could consider. So long story short, we found out November 09 we were expecting. Given that everyone, including Olivia's doctors thought that she developed Addison's after the illness as 7 months, we didn't think Addison's was something we needed worry about with the new baby. June 29, 2010 we welcomed a healthy baby girl, Kinsley. She was born with a clubfoot, but other than that, she was very healthy. She has had a few colds over the last 7 months, but nothing serious.
Friday, Feb. 4, 2011 I took Olivia to the doctors for a fever and sore throat. She was tested and indeed had the flu. Saturday I thought it would be a good idea to have Kinsley stay with my mom and away from Olivia.
Sunday afternoon, my mom called and said that the baby felt warm. Turned out she did have a fever and we figured she would need to go to the pediatrician to start on Tamiflu. However, Sunday at around 10:30pm, Kinsley threw up after her nighttime bottle. Again, we thought it was the flu. Then out of no where, she started to have a seizure! We were terrified! All we could say was, "not this again"! We called 911 and to our horror, they wanted to take Kinsley to the local ER. The one that Olivia was taken to when she had the blood sugar of 14 and seized for 2 hours. I begged the EMT to take us to the Children's hospital instead. We had learned the hard way that the local ER did NOT do well with pediatrics. After getting her stable, they agreed to take us the 30 minute drive to Arnold Palmer Children's hospital. Once we arrived Kinsley was doing a little better. She was put on a few monitors and we were told it was most likely just a febrial seizure and they wanted to watch her for a few hours and then we would be free to go home.
About an hour after we checked into the ER, we were going over the story and family history with one of the doctors. She was sitting on the end of Kinsley's bed. All of a sudden Kinsley threw up again. The doctor grabbed her and flipped her over to make sure she wouldn't choke. My dad, who was in the room, said "she's turning blue". The doctor started to yell out of the room to other doctors and for nurses to call respiratory. We were rushed out of the room and Kinsley lied there not moving surrounded by 7-8 people. We were horrified! This truely was de ja vu. We had been through this with Olivia. This could not be happening again! Almost 30 minutes later we were called into the room by one of the doctors. He explained that Kinsley was still having break through seizures even though she had been given 3 different seizure meds. He mentioned that her sodium was a slightly low and that this was most likely the cause of the seizure. Her sodium was 124. I immediately asked about her cortisol levels. I had already given them Olivia's history, so I was surprised that the doctor kind of blew off my question about her cortisol and said her sodium wasn't "that low"! I explained AGAIN that sodium often went hand and hand with Addison's. They agreed to check the cortisol, but weren't counting on it being low. It was confirmed that Kinsley did have the flu. After hours in the ER, she was stabilized and moved up to the Special Care Unit.
A little after 6am, Monday morning, one of the doctors came in and told us with a shocked look on his face that indeed Kinsley's cortisol was low. In a stressful situation like the seizures her cortisol should have been between 25-30. Her's was 0.2! We were shocked! Here all along we thought that Olivia was NOT born with Addison's. And here they are telling us that our 7 month old baby has it too! How could this be happening? The next morning we saw one of the endo's from Olivia's endo group. He confirmed that she does have Addison's. The thing that had us all stumped is that Olivia started showing symptoms after an illness at 7 months! How could this just be a coincidence that now after having the flu, Kinsley at 7 months had her first crisis? That is something we plan on looking into.
Of course they started her on hydrocortisone and we thought, " well, this stinks, but at least we know what to do, and at least she didn't suffer undiagnosed for years like Olivia". The doctors ordered an MRI just to make sure that her brain didn't suffer any harm during the seizure. We also found out that she had stopped breathing during the second one and needed to be "bagged" for 20 minutes. 10 of which she was not breathing on her own at all. Tuesday afternoon we received horrifying news that the MRI showed a mass in her brain and that some of her arteries in her brain appeared to be smaller than normal. They wanted to do some other types of MRI's that would show the chemical make up of the mass and also more detail to the arteries. They also ordered an ultrasound of her adrenal glands. We have yet to receive the results of the ultrasound, but from what we could take from the techs words "usually baby's adrenal glands are very easy to see, it's hard to see hers", we assume hers are smaller than normal, just like her big sis. We also heard from the neurosurgeon's office that the mass did not appear to be a tumor, but we would go into more detail at our follow up visit in 2 weeks.
So overall, this has been a shocking week for us! The diagnosis of Kinsley having Addison's turns everything upside down. We now have to think about things like genetic counseling if we decide on more children. We are trying to adjust to life at home with a baby on triple steroids (because she is still running fever) and seizure meds. We have tried finding information online about Addison's being hereditary...but haven't found much.
We hope that by sharing our story we can help others consider the fact that it's possible to have two children born with Addison's. And that it is imperative in emergency situations to insist upon having cortisol levels checked!! Even though we were looked at as if we were over reacting, I was told that we saved Kinsley's life by insisting her levels be checked.
We once again are shocked to be in this situation, but very thankful we have a happy outcome. We know one day Kinsley will be very thankful for her big sis "paving the way" for her.


Anonymous said...

Great job Amy on your documentation of Kinsley's first and hopefully only crisis. You and John have done a terrific job with Oliva, along with a "bit of: sleuthing on your Mom's part. Hopefully Kinsley will have a safer and healthier existance because of you all, including Olivia for paving the way.
Keeping you all in my prayers.

Anonymous said...

Love your post, Amy, so informative. It is terrible that Kinsley has to go through this but she is so lucky that you are so experienced! It is great that you can teach others about this rare disease. And not to mention the fact that it can happen twice in one family! Let's hope that because you found it at such a young age, she can go forth without any more drama!

Lana C. said...

I was diagnosed nearly ten years ago with Addison's after coding while in the hospital. We believe my great-grandmother had Addison's, but it went misdiagnosed and most likely caused her death. In her pictures, you can clearly see the pigmentation issue. Your daughters are beautiful and it is so incredible that they both have this disease. I am so thankful that they were diagnosed so that their disease can be monitored, but I do believe it is much more difficult to do with children. We Addisonian's are supposed to self-dose, according to illness, etc., and often that follows being aware of how we feel, that's when a mommy being able to look into their child's eyes and to see the way that they feel is so critical. All I can think to say further is that you'll be a mini-expert in this area!!! I have a blog - I write mostly about the emotional impact on myself and my family with Addison's, but I try to bring awareness and have communicated with people around the world with Addison's. It is wonderful that you are reaching out to share your story.
Lana C.