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!

Trusting My Mother's Intuition

The last several months have been a giant jigsaw puzzle that I have been working on putting together. Cam's issues started interfering with normal life and I became more and more aware that his problem's are not limited to speech delay. As he started preschool and more intense speech therapy I also had extra eyes to confirm what I was noticing. Cam has a limited amount of energy and when he has reached his max he has nothing left. He has been declining in a lot of different ways. But is still the cutest sweetest little boy ever.

In November of 2010 I got the urgent feeling that I needed to figure out why Cam wasn't speaking, and that I needed to fix him. I started pushing the speech therapist and Doctors to figure it out and we ended up with the diagnosis of Periventricular Nodular Heterotopia (PVNH). In September of this year that feeling came back. "Something is wrong and you have to fix it!" My pediatrician felt that it was nothing and the things I was noticing wasn't too pressing. It was also apparent he hadn't taken the time to research Cam's diagnosis at all. The feeling wouldn't go away. After the appt. with the Neurologist I made the pediatrician make an appt. with the cardiologist. He did an EKG and a chest x-ray and felt that an echo wasn't necessary. The feelings didn't go away and neither has Cam's symptoms.
 I talked to my good friend who happens to be my OB at the beginning of Nov. and asked for her advice on how to deal with my Doctor. She offered to talk to one of the Dr. in the same practice. Four days later the new doctor called my and told me that she had spent the weekend researching PVNH and felt really strongly that we should have a consult with a genetics team at Primary Children's hospital. It usually takes 6 months to a year to get in with them. They called me that same day and said because of Cam's diagnosis he is a high priority and they made the appt. for 4 weeks later. We had the appt. 2 weeks ago. It was the first time in a year that I went into the Dr. office for a visit and didn't feel like I was the crazy mom looking for something to be wrong with my little boy. He was kind, understanding, and most importantly actually knew what PVNH is. Usually PVNH is x-linked and attached to the filamin-A gene. The geneticist didn't feel this was the likely reason for Cam's because I have 4 healthy sons not affected. He suggested we do a microarray test that would look at all the chromosomes and make sure he didn't have another syndrome that may have caused it. We were able to do the test that day, and we got the results back on December 22. (We got the abnormal MRI results last year on December 21) The test showed that Cameron has 22q 11.2 deletion syndrome. Also known as DiGeorge syndrome.

It has been an emotional week to say the least. It is hard to hear that something is really wrong with your child. But then I think about how I KNOW that something is wrong with him already and have been trying to figure out how to fix him everyday for the last 3 1/2 years. This just means that now I know WHY he has so many problems. More importantly it means I have new doctors that also know what is wrong with him and how to help. We have a lot of tests ahead of us. This syndrome has many problems that come with it. We are starting with a sleep study that we will do tomorrow. We are hoping to get an Echo done this week as well. We will talk with the specialist next week and have a better idea of what to expect for Cam. This is a lot to take in and process. I wish I had a crystal ball and could see his future. I guess I will have to just take it a day at a time instead. Dealing with the problems he is having now and trying really hard not to worry about the future.

I question why my life has to be harder than most people I know. I haven't come up with any answers. I just know that if I take time to find the blessings in my life they are there in abundance. Cam makes me happy everyday. He is the cutest, sweetest little boy I know and I wouldn't change a thing about him. Heavenly Father has lead me to Doctors that helped me figure all this out. The timing of things has been a huge blessing. Also, the timing of a beautiful baby girl after 15 years of longing for a daughter has really given me a boost. I don't know how I will make it through all these trials, but I know that I felt the same way when Jake died. I still struggle everyday with his death, but somehow I am making it through. I find the strength to go on with living everyday and finding Joy in what I have. I have so much to be thankful for. It is harder somedays than others but I get through each day. One of my favorite scriptures is in Alma 34:41. I read it just weeks after Jake's death and it continues to bring me peace. "But that ye have patience, and bear with those afflictions, with a firm hope that ye shall one day rest from all your afflictions."

I am thankful for the spirit that I know pushed me to continue to search for answers for Cam. This is life changing for him to have this information. As hard as it is to hear a diagnosis like this, Knowledge is power! We will get through everything that is coming our way. He is strong and loves life. I will continue to fight for him, love him, do everything I can to "fix" him, and accept the things we can't.

Cameron was seen by a cardiologist today. He has been extremely tired lately so the neurologist wanted to be sure he didn't have the heart condition that usually goes along with PVNH. He did great and we got fantastic news that his heart looks and is functioning normally. This is a huge relief for me. I believe he must be exhausted from his low tone and his brain is working over time right now trying to catch up with his speech. I think as he has grown and got bigger his muscles are having a hard time getting him around. I plan to put him in a tumbling class to help strengthen his muscles and the speech therapist is planning to add physical therapy to go along with the speech.

Cameron Toone

Age: 3

Birthdate: July 2, 2008

Diagnosis: Periventricular Nodular Heterotopia

Brief Description: Periventricular heterotopia is a condition in which nerve cells (neurons) do not migrate properly during the early development of the fetal brain, from about the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In normal brain development, neurons form in the periventricular region, located around fluid-filled cavities (ventricles) near the center of the brain. The neurons then migrate outward to form the exterior of the brain (cerebral cortex) in six onion-like layers. In periventricular heterotopia, some neurons fail to migrate to their proper position and form clumps around the ventricles.

Affected individuals usually have normal intelligence, although some have mild intellectual disability. Difficulty with reading and spelling (dyslexia) has been reported in some people with periventricular heterotopia. Less commonly, individuals with periventricular heterotopia may have more severe brain malformations, small head size (microcephaly), adevelopmental delays, recurrent infections, blood vessel abnormalities, or other problems. Periventricular heterotopia may also occur in association with other conditions such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin that stretches easily, and fragile blood vessels.

Web-sites with accurate information

http://ghr.nlm.nih.gov/condition/periventricular-heterotopia

http://www.ncbi.nlm.nih.gov/books/NBK1213/

Typical findings are:

• epilepsy
• developmental delay
• psychiatric disorder or conduct disorder or learning disability
• heart diseases (valvular defects, patent ductus arteriosus)
• vascular diseases (aneurysm, stenosis and stroke)
• connective tissue weakness
• muscle weakness
• coagulopathy
• problems with motility of stomach and intestine (constipation, vomiting)
• hyperflexible joints und increased skin elasticity
• problems with nutrition
• lung diseases
• recurrent infections
• reduced intelligence (often the intelligence is normal

Cameron’s symptoms:

-Over-all low muscle tone Knocked knee’d, flat feet, over-all weakness, low energy

-Developmental Delays on all milestones. Especially late with talking still struggling with it and not caught up at all. Cameron is in weekly speech therapy and attends the special needs preschool 2x a week. Speech Therapist notes a drastic decline in Aug. 2011 to present date in energy, labored breathing, slurring words, and overall performance.

-“Clumsy” Cameron still falls all the time while walking. Ability looks a lot like a 1 year old learning to walk for the first couple months. Lacks a moderate amount of balance and body awareness.

-Labored breathing especially when trying to focus on speaking and participating in activities.

-Extreme fatigue. Falls asleep all the time sleeping hours at a time during the day in addition to 11-12 hours every night. Increased in the last couple of months. Tires quickly and easily. Lays down during ST and regular play as often as possible, usually after a couple of minutes of sitting.

-Preschool teachers have observed a desire to participate but he easily tires and can’t continue in activity.

-Low motility of bowels (constipation) sensitive stomach (gets diarrhea after drinking fruit juice)

-Unexplained rashes all over body that come and go. Extreme eczema. Unknown allergies.

-Extreme sensitivity to loud noises (fireworks, even movies or plays) intense crying and covering his ears. Sensitive even when it’s not extremely loud things.

-unusually small ear canals

-deep set eyes, protruding forehead

-hyperextended joints

-Low-tone in mouth. Tongue forward motion from birth, unable to nurse or suck correctly. Still drools most of the time. Struggles to clear passageways when congested.

Major Progress!!

Cam has made amazing progress in the last few months. After we were able to get him to say "ball in" it was only a matter of weeks before he was talking. We are all so excited. It was like his brain found a new path and Cam was able to start communicating verbally. He went from less than 20 or so words to more words than I can count in a couple of weeks. He started putting 2 and 3 words together, and now is up to even 4 word sentences. He started by being a little parrot and repeating everything he heard. Now he is able to come up with the words on his own. He is still behind, but we are thrilled with his progress. Some of his words are hard to understand. It is a guessing game most of the day trying to figure out exactly what he is saying. Cam has loved being able to talk to people. He is very friendly and polite. He say's "thanks you" to everyone constantly for anything they do for him. A few weeks ago he said out of the blue, "Mom, love you" and he always responds "love you too" when I say it to him. He is so cute. He can say all his brothers names and most of his family's names too. When he is in trouble and crying he still signs "sorry" which is absolutely adorable. He reverts back to sign often especially when I don't understand what he is saying.

Cam remains in speech therapy once a week, and has started preschool. He goes to school twice a week and rides the bus. He loves watching for the bus and yells, "the bus, the bus" when it arrives. He is doing great in school. His teachers adore him.

Cam is also potty training with great success right now. This is exciting for us both. After a lot of research I found that most kids with PVNH aren't able to potty train until age 5 or 6 and really struggle with it. I am thrilled for him and so proud of how eager he is to become a big boy.

Making Progress

Cameron has been making a lot of progress lately. He is starting to repeat a lot more using the last word someone says to him. Or attempting to at least. Sometimes he gets the first letter right or the last letter. He has more words on his own now too. Most of the words he says on his own has started by learning and using the sign first. I am so glad we chose to push the sign like we have. He loves to watch his signing time videos. He is much more social in the classroom as well.

He qualified for the special ed program through the school district recently. When he turns 3 he will start going to their preschool. We had his IEP this week and I am impressed with the people who will be working with him. He is assigned a nurse because of the medical issues that come with PVNH. She had done a lot of research on it and has it all down in his file. The teacher was nice and so was the speech therapist. I think it will be a very good thing for Cameron. He will start school in August. They even have a bus that pick him up at our house and bring him home. Cute, sad, and scary all at the same time. I think will use the bus occasionally but not regularly. I found a speech therapist that will start coming privately after he turns 3. That is when his services through Early Intervention will stop.

I spoke at a conference in front of 500 speech therapists from around the state in March. They had a specialist come and he interviewed me for 2 hours in front of them about Cameron and our families issues. It was a little scary but went really well. I think it helped open doors for Cameron though, so it was well worth it. Now the top people know me and Cam and that is a good thing.

The Hanen Program is ending this month. I have learned a lot and Cam has improved. I feel like blending the ideas from the Hanen Program and the typical speech therapy approach is exactly what will help Cameron break his silence. Along with the sign language! It is also how I found our new private speech therapist, so it has been well worth the extra time.

Cam has started communicating and telling stories through charades. It is so dang cute. He acts out things he has seen or what is going on. We went to the zoo and he imitated all the animals trying to express what he was seeing. I love it!

We are currently trying to find a new neurologist. I would like to find someone that has dealt with PVNH before. We found a facebook page that has other families suffering with PVNH. It has been very helpful and is where we have had the most success learning more about this rare condition. I haven't found a doctor yet that has ever even heard of it. The more I learn the more I realize that speaking might not be Cameron's only problem. There are a lot of physical problems, health issues, and learning disabilities that may come up. He is showing signs of a few of the problems now. My hope is that he won't have to deal with many of them but I also want to be prepared and know what to look for if they do come up.

Cam is still the cutest, bright eyed little boy ever and I am so lucky to have him as my son. He is happy and healthy and that is the most important thing! I am thankful to have such a great support system around me to help with everything. My family is all trying to learn sign language. Curtis has been a great support and help. My sister has babysat a ton of times while I am trying to go to classes and meetings. I have a great team to help Cam grow and progress. I am grateful for all of it!

Words:

mom dad papa mama, yeah, no, apple, josh-for all brothers, help-sounds like up, up, truck, in, out, hi, bye, hide, me/mine, down-with sign, milk-with sign, play-with sign, more-with sign, baby-with sign, choo-choo-with sign for train, blue-with sign, ball-with sign, eat-with sign

Signs:

Finish, eat/food, drink, cereal, coat, cold, shoes, socks, blue, red, green, yellow, train, boat, airplane, phone, cry/sad, more, milk, cracker, water, swim, ocean, frog, fish, horse, cat, dog, work, baseball, ball, bath, wash hands,

baby, signing, time, friend, grandma/grandpa, flower, me, go, car, play/playground

Weekly Update

So on Sunday in nursery the kids were all sitting at the table having a snack. Cameron was signing that he wanted more fish crackers. The teacher game him some more crackers and he signed thank you. When she got to the next child that can speak he signed more fish just like Cameron did. It was so cute. It gives me a little hope that because the kids in his class will grow up with him signing it will be normal to them. They might even learn some of the signs too and he won't feel isolated like I am fearing.

In Cam's toddler class yesterday he signed coat on his own when he wanted to get his coat on to play outside. He hasn't ever signed coat with out being shown the sign before. He also signed black while reading a book with me the other day when he pointed to the black train. I knew that he can sign red and blue on his own but black is new. Cam also started saying "me" or "mine" a few days ago. It sounds like "may" when he says it, but this is great progress to have another word.

I have been going to my class called The Hanen Program. It is 1 time a week. I have gone twice. I think it will be good. A lot of the stuff I am already doing. Cam's case is different too. It's not that he doesn't want to communicate it's just that he really has a hard time learning to verbally. But I will continue to go and get any info I can that will help him.

He has also started a little bit of the terrible two's. His pout is to die for though. It is really hard not to laugh at him. He drops his head in despair when things don't go his way. I will win this battle though. He also says NO in a really naughty tone. I have tried to reply with "you need to talk nice to mommy" instead of using words like, "Don't talk like that". I don't want to ever use the words "don't talk" in any conversation with him.