My experience of tragedy, trials, and triumphs!
If you're new here start by reading the "My name is Julie" post first!!!

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Tuesday, March 20, 2012

New Doctors, and Test Results:)




Overnight EEG




VCUG Test

Things have been moving along for us. I have a new pediatrician that I LOVE for Cam. It was awesome to be seen by a Doctor and have him take us seriously and do everything he can to help us. I was nervous at first because he was very overwhelmed with all the info on Cam. He didn't know what PVNH was (of course). But the next day he called me and spent 30 min. on the phone with me. He stayed up all night researching all the info that I gave him on Cam. They have a case specialist for the kids in his practice that have special needs. She called me shortly after the Doctor did and spent even longer on the phone with me going through all of Cam's needs. They got us in with a new Cardiologist that I really liked as well. In fact when he came in he was completely up to date on all of Cam's diagnosis' and problems. It was the first time I didn't have to explain it all to the Doctor. We also had an overnight EEG done and it was NORMAL!!! YAY! No seizures and he won't need to have one done again unless he starts showing signs of seizure activity. This was fantastic news.

What's next?
-Well, we have an appt. with the ENT in 2 weeks. We will be getting his adenoids removed to help with his sleep apnea.
-He will need a yearly echo to check his aortic root dilation. Apparently that is the one defect that can be life threatening. The cardio said even if it doesn't change for 30 years we should still always monitor it. The other 2 heart defects shouldn't cause any problems for him.
-We did the VCUG and it was normal...YAY! First test results that were normal so far:) We aren't out of the woods yet with the kidney though. We will do another kidney ultrasound in a couple months to see if the pelviectasis has gotten worse or not.
-As for his low immunity issues, we are seeing effects from that this week. Cam has the Chicken Pox, even though he has been immunized for them. He is very put out that we can't go and play with anyone and reminds me, "not my fault" when I tell him no. It's really cute.
-Cam's speech is coming along really well. He is still behind his age group, but is doing far better than expected. I am so proud of all his hard work.

Overall he is so sweet and fun to be around. He stays positive and happy even with all his problems. His spirit is strong and he gets through everything that has been thrown at him. He is an example to me and I love being his mom. If we get to choose our trials, I got it right when I chose him. He is one of my biggest blessings and I wouldn't change a thing about him. I absolutely adore him!

Friday, January 13, 2012

The Results Are In...


Sleep Study Dec. 28, 2011

Kidney Ultrasound Jan. 12, 2012



Echo Jan. 11, 2012

Well, it has been a very full 2 weeks. We met with the Genetic Specialist, Dr. Rope on Jan. 3. He stayed with us for 2 hours answering questions and helping us understand Cam's new diagnosis of 22q11.2 deletion syndrome. I am really happy to have a Dr. that finally knows how to help Cam. He explained that there is several tests that are protocol when a child is given this diagnosis. We needed to do an Echocardiogram, Kidney ultrasound, and several blood tests. We had a full week of tests including the results from the sleep study.
SLEEP STUDY: The sleep doctor found that Cam has mild obstructive sleep apnea. In the 6 hours that they monitored him he stopped breathing 30 times ranging from 9 seconds long to 29 seconds long. Most apnea episodes happening during his REM cycle causing short REM cycles. The other issue and apparently a more concerning problem was the pattern of sleep. When Cam fell asleep he went straight into stages 3 and 4 sleep and stayed there for 2-3 hours. This is very abnormal, especially for a child that sleeps 12 hours at night and 2-4 hours during the day, most days. Stage 3 and 4 sleep are our deepest sleep stages. She is worried he is having seizure activity during that time. Cam was in one of his comatose states at the follow up appt. and it was very alarming to the Doctor. She felt that his mild apnea couldn't be the cause of such "impressive fatigue". She recommends an overnight EEG to test for seizure activity. This is frustrating to me because they should have run that test during the sleep study but it fell through the cracks. We will be doing that in the next week or so.
ECHOCARDIOGRAM: This was also frustrating. We tried to get this scheduled before the end of the year because we had met our deductible and wouldn't have to pay in full for it. The genetics team as well as my pediatrician tried to schedule it and the cardiologist that saw him in Oct. put a stop to it. We gave him the updated diagnosis and he sent a statement to the scheduling department saying, "I have evaluated this patient and he does not need an Echo. Even with the new diagnosis." When we met with Dr. Rope he said all patients have to get one so he walked us over to the Cardio department and made them schedule it. Unfortunately this was after the first of the year. They did the Echo and found that he has 3 minor heart defects that will need to be followed up on.
1. Small secundum atrial septal defect....a small hole in the top of his heart.
2. There is a trivial patent ductus arteriosus....leftover fetal tissue.
3. Aortic root mildly dilated.....seen in a lot of PVNH patients.
The 3rd thing is the biggest problem right now that we will need to watch. The good news is right now even with these defects the heart is functioning properly. We need to follow up with a cardiologist to form a plan for keeping an eye on it or possible repair. (We will be finding a new Cardiologist!)
KIDNEY ULTRASOUND: We did the kidney ultrasound the day after the Echo. Unfortunately Cam was born with only 1 kidney, his right kidney. There is no left kidney at all. Interesting to note that we called the OB's office and they pulled his 20 week ultrasound and the tech made the note on it LEFT KIDNEY and RIGHT KIDNEY. Crazy, that it was missed like that! Also bad news that the right kidney has pelviectasis. Which means (I think) that it looks enlarged and agitated. They want to do a VCUG test to exclude vesicoureteral reflux or (make sure the kidney is draining properly into the bladder, and not coming back up into the kidney). This test will be very invasive, needing to do a catheter on Cam and involving ultrasound and x-ray. I honestly don't know what much of any of that means. Just that we need to do another test on him imediately. They also warned us to alway protect the solitary kidney. Taking extra care if he experiences any kind of trauma or get high blood pressure as both could lead to life threatening situations. Ugh.
BLOOD WORK: Most of his blood work was normal...YAY. Except for 1 (kind of major) test. The part of the white blood cells that fight off infections the Lymphs was very low. It should be between 4.5-10.5. His was 1.8. This means that now we know why he is always getting sick. He has a weakened immunity and will battle illness and infections his entire life. They did say that it is not bad enough that he will end up in the hospital with everything that he gets, he will just most likely get everything he comes in contact with.
As you can imagine this has been a lot to take in the last 2 days. My head is spinning and I am nervous that we still have more tests to run. The other upsetting things is that we still have no answer of what is causing his extreme fatigue. That was the main reason we have pushed to get answers of what is going on and it remains unanswered. I am praying he is not having seizures, and praying for the strength to handle it if he is. Cam was great through all of these tests. He really was a brave little guy. The echo was 45 mins. long and he had to be perfectly still and lay in strange positions. With the Kidney US he giggled and kept saying, "tickling me". He screamed for the blood work though:( Thanks for all of your love and prayers we have truly felt them!
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