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!

Kinsley HOPE

Kinsley newborn






Kinsley Halloween 2010





Kinsley 4 1/2 months





Kinsley 5 months





Kinsley 6 months





Kinsley 7 months





Kinsley 7 months, day of Addisonian crisis/ seizure






Kinsley in hospital after Addison's diagnosis

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.

Olivia's Before and After Pictures

Olivia @ 5 months. Before she started showing symptoms.






Olivia @ 9 months, starting to develop hyperpigmentation of the skin.





Olivia @ 2 years 9 months, extreme hyperpigmentation.





Olivia @ 3. Four months after starting hydrocortisone.





Olivia @ 5 1/2 years old. Two years after start of hydrocortisone.

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

Great news!

Well...I've got some great news. A couple of weeks ago I took Olivia for some bloodwork ordered by Dr. D, her endo. When we got back from vacation, I called for the results. A very excited Dr. D called me back with great news. If you remember, Olivia's ACTH levels were still around 5200 last time she had blood work. Well, guess what...Dr D was thrilled to inform us that her numbers were now in the 500's! This ment we could continue giving her hydrocortisone only twice a day, instead of 3! Yippie! He also said her aldosternone numbers were good...so we could stop giving her the Florinef (salt). =) He was also happy that her blood didn't show any traces of thyroid antibodies, or adrenal antibodies.
Overall...it was a GREAT phone call and we, along with Dr D, are thrilled by her improvments!

As for Olivia's day to day life...she is amazing! She seems to have what we call "a super immune system" now! Seems like everytime she seems to be getting sick, it only last about a day...and then she is 100% again! John and I are still trying to get used to that...we still hold our breath and panic a little with every sniffle! We still carry the thermometer and Motrin everywhere =) But I guess this is something that will follow us for awhile! We will eventually be able to relax...but I think at this point we are still hardwired to feel her forehead 12 times a day! =0