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.

Friday, February 18, 2011

Dr Belton and Dr Desrosiers appointments...

As expected, we started the first round of doctor appointments this week. Monday John and I took Kinsley to see her pediatrician, Dr. Janet Belton. We have developed such strong bond with her over the years while dealing with all of Olivia's illnesses. We knew she would be shocked once she heard the news about Kinsley. As it turns out, she was out of the country the week Kinsley was in the hospital...so we were able to deliver the news to her and see the surprise on her face. As you all know...we never thought Olivia was born with Addison's and Kinsley's first 7 months of life have been so different from Olivia's. Olivia spent the first 3 years of her little life sick, sick and sick again! We saw Dr Belton 52 times in 2006 alone! So from all appearances...Kinsley has been our "healthy child". As we all were...Dr Belton was shocked that Kinsley was now her second patient (ever) with Adrenal Insufficiency. ( Olivia being her first) Once I finished giving her the run down of our 4 days in the hospital, she started to go over some labs and reports that were sent over from Arnold Palmer. We learned from the ultrasound that one of her adrenal glands appears to be larger than normal. Which was shocking because Olivia's were small. It's thought that perhaps because Kinsley is so young, her adrenal glands may be still trying to overcompensate. We also learned that one of her kidneys is dilated. During my pregnancy with her, both of her kidneys were dilated...but resolved before birth. As of now, the plan is to repeat an ultrasound when she is between 12-18 months old, unless she starts to develop bladder infections or UTI's. If that were to happen we would have to take her for a few different test to make sure she doesn't have reflux of the kidney. So, thinking positive thoughts about that! =D So, overall, the visit with Dr Belton was ,as we expected, emotional and enlightening. I find it very comforting knowing we have her in our corner. As she once put it, she is like our quarterback. She is there to take in all the information from all the different doctors and puts it all together for us. We'd be lost without her!

Thursday we saw Dr. Desrosiers, the girl's endocrinologist. He too was pretty surprised that little sis, Kinsley, has Addison's. We heard Kinsley's ACTH level for the first time and it was really high! 2296! ACTH (Adrenocorticotropic Hormone)
is the hormone released by your pituitary gland that signals your adrenal glands to produce cortisol. Because her adrenal glands don't function, her pituitary gland goes into overdrive, pumping out extra ACTH trying to kick start the adrenals. When Olivia was diagnosed, her levels were 5500! It's hard to find information about what normal ranges are for children...but from what I've read, it's usually between 50-80. As of now, she will remain on the 2.5 mg hydro cortisone three times a day. He ordered a repeat sodium test to see if she will need Florinef. Something interesting he mentioned was a genetic test called DAX. He said he'd order it in about 6 months, once everything has settled down a little. We're also anxiously awaiting the results from Kinsley's complex fatty acid test. Olivia's came back normal...so we aren't expecting Kinsley's to be any different, but you know our girls! Overall, it was a great appointment and we are very comforted by Dr Desrosiers confidence in his ability to treat our girls. I find myself leaving his office thinking, "ok, no biggie, we can handle this"! He gives us the encouragement to raise our girls like any other children (just with a little help from steroids)! =D

As you can tell...WE LOVE OUR DOCTORS! =D
Next week will be another busy one! Monday Kinsley follows up with Dr Gegg (Neurosurgery). We are anxious to get more information about the mass in Kinsley's brain.
Tuesday, both Olivia and Kinsley have an appointment with the neurologist. Hoping we won't have to keep Kins on Keppra too long, but from what we've heard, will most likely be at least a year! =( We're hoping we won't have to pass a 24 hour EEG like Olivia did.
Speaking of Olivia...she DID pass her 24 hour EEG a few weeks ago, and Wednesday night was her LAST Keppra dose. YAY! She had been seizure meds since she was 13 months old! She is so excited to only have to take applesauce (hydro cortisone) from now on.

On a side note...Kinsley is in such a better mood now! We were extremely worried when we got home from the hospital and she spent the first 3 days crying nonstop. I'm happy to report that she is back to her smiley self and in fact, we think she is actually much more playful,happy and alert than before! And of course we are relieved that she is once again sleeping through the night! yippee!

4 comments:

Lana C said...

I wish the girls didn't have this disease, but I am so thankful they have a diagnosis and a mommy who does her best to stay on top of it all. Thanks for sharing.
Lana C. www.findinglana.blogspot.com

Joanna Thanthanavong said...

Hi I was just reading your blog and I am so sorry that your girls have this horrible disease. I too have Addison's. I was diagnosed July 2009. I was in complete organ failure when they finally diagnosed me. My endo says that there has been alot of damage done to my body and organs from going undiagnosed for almost 4 years. I wanted to tell you that I recently have started a foundation for more Addison's Disease research. You can look at my website www.addisonsdiseasefoundation.com. I would love for you to be a part of the foundation. My modo is I may not save my life or help me with my disease but I will help many others with this horrible disease. I will keep you and your beautiful daughters in my prayers and hopefully my foundation will help your daughters to have better meds and a better life with Addisons. The Barbara Davis Center at the University of Colorado has agreed to perform the research for my foundation and I am very greatful. We have to do the best we can with what God gave us. I believe he gave me Addisons to start this foundation and help other with this disease. Your girls have a reason for having this disease. They are strong and special and they will do great things in the future. Best Wishes and God Bless you!

Martin Norrman said...

Hi
I´ve Addisons disease too and started the Swedish Addison association. How can I Contact you for a question?

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