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

Recap of Olivia's story

Olivia was born Sep. 2005. She was a healthy baby, other than some short term issues with jaundice. She was a adorable baby with pale skin and chubby cheeks. At about 7 months, Olivia was rushed to the hospital and was diagnosed with Strep pneumo. She spent 8 days in the hospital being treated with strong antibiotics. This was in April 2006. At the beginning of June 2006 we took a family vacation to South Florida. When we came back, we noticed that Olivia was the only one who came back with a golden tan. My husband and I both got sun, but wound up peeling, and returning to our regular pale selves. I discussed her coloring with my mom and mother in law, and was reassured that we had family members that were tan as children and that it must have just "skipped generations". September 2006, Olivia had her first seizure. We were sent to a neurologist. She was put on seizure meds and sent home. Over the next 3 months she had 3 more minor seizures. January 2007 Olivia was sick with a minor throat infection and was seen at the doctors and put on normal antibiotics. The next morning, my husband went in to check on Olivia before he left for work and to his horror, found her unresponsive in her crib at 9:45am having a seizure. We immediately called 911 and she was rushed to our local ER. After an hour of failed attempts to obtain an IV line, they decided to put an IO (large needle that looks like a spiral yard stake) into Olivia's left lower leg. It took them almost another horrifying hour. After they were able to draw blood, they came back in and said that Olivia's blood sugar was 14!!!! Yes, 14!! After stabilizing her, they transferred her to the local children's hospital. We stayed for 8 days and she was seen by a geneticist, as well as a endocrinologist. The endocrinologist told us that Olivia had ketones in her urine and that she had ketotic hypoglycemia. After being treated for the low blood sugar, seizures, and osteomylitis (which she developed from the IO) and influenza (that she developed while in the hospital), we were sent home and told to follow up with the geneticist and endocrinologist. We followed up a month later with the Endo and she ran some blood work and stated that Olivia didn't have anything that was related to what she deals with and that we didn't need to follow up with her. =( After a few more episodes with low blood sugar and seizures, a new symptom arose. May 2007 I noticed that Olivia's tongue had blackish, blueish patches on her tongue [see below for picture]. I took her immediately to her pediatrician, and she sent us to the geneticist. He ran several blood test, as well as urine test and could find nothing to explain it. At this time Olivia had been seen by 7 specialist ( pulmonologist, neurosurgeon, ENT were unrelated to her illness and she outgrew those illnesses by 18 months.) Her pediatrician was fed up and decided to send us to Shand's at the University of Florida to see a endocrinologist, immunologist, neurologist, and geneticist. We were seen July 22nd at Shands and the geneticist there was basically stumped and basically we heard nothing new. He said he "needed time to wrap his brain around her case, because it was so complex". The one thing that he mentioned that we hadn't heard before was when he asked if she had ever had her adrenal system checked. We said no. He didn't order any tests other then one to check chromosomes. When we got home, my mom decided to look up adrenal glands and see what they controlled. She came across something that said "adrenal disease". There was a long list of diseases. She started at the top and clicked on Addison's. She immediately started reading the symptoms related to it and we were soon on the verge of hysterics. This was the first time that we saw something that lumped all her symptoms together. By coincidence, she had an appointment to be seen by her neurologist that Friday. I asked the nurse practitioner if Olivia's seizures could be related to something called Addison's. She said, "no, I don't think so. That's more common in boys. Have you looked at Retts syndrome"? I left feeling discouraged and looked up Retts only to be horrified that she would even mention it, when Olivia shows none of the symptoms, which include severe mental retardation. Not convinced that it wasn't Addison's, I scheduled an appointment with her pediatrician for the following Monday. She didn't know much about it, and in fact, had only seen one case in a child while she was a medical student! She said I should follow up with the Endo. Yeah, the one that told us she couldn't do anything for us. I asked for a different doctor and made the first appt available. I was satisfied and was anticipating the appt.

Much to my surprise, I woke up the next morning to a horrible scream by Olivia. My husband ran in and picked her up. She was acting quite strange and we decided to take her to the fire dept just down the street to have them check her blood sugar. Sure enough, it was 34! They took her to the hospital where I mentioned possible Addison's to the ER doctor. He seemed skeptical, until he saw her skin tone next to ours. That night, they ran a CT of her adrenal glands and that came back that they were smaller than usual. The next day they ran a blood test where they drew blood to establish a baseline cortisol level. They then put a synthetic version of ACTH into her IV. An hour later they drew it again and checked cortisol levels. Sure enough, the same endo we didn't like came in and said that Olivia does indeed have Addison's. We have started her on hydro cortisone pills 3 times a day and half a salt pill once a day. Pretty bad that it took my mom finding Addison's online and us mentioning it to the doctor to finally get a diagnosis. We find humor in the fact that my mom found something that 5 doctors couldn't. Even when she was seen a year and a half ago by the same doctors and she had the same symptoms! We have found a pediatric endo that we love and are very happy with the changes we have seen in Olivia. As of her last blood draw, her ACTH levels were still over 5000! Her endo is working on getting it down...but he was concerned because she has been 39" for over 6 months. He told us to get one more blood draw and then eliminate her afternoon dose. We are hopeful that will be enough to get her ACTH levels down but not too much to where it will hinder her growth. I'll keep everyone updated on Livvie's progress!

Here is a list of her symptoms:

Hyperpigmentation of the tongue
Low blood sugar
Loss of appetite
Weight loss
Seizures induced by low blood sugar
Muscle weakness

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