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.

Follow up on Prayer

So tonight I had Cam give the prayer for dinner. I looked up some more words like blessing that I didn't know. He did such a cute job. When I put him to bed tonight, he jumped up on his bed and immediately signed Heavenly Father. It was so cute. He has only done the signs a couple of times and he already remembers it. He wanted to say his prayers again. I really think he loves being able to communicate and participate in life. I can't get over how cute he is. I counted yesterday and he knows 27 signs on his own now. I am so impressed with how fast he is learning them. What a blessing!

First Prayer

Yesterday in nursery I felt really bad because at the beginning of the lesson they asked the kids who wanted to say the prayer. All the kids jumped up and down in their seats shouting "me". A little boy about Cam's age got up and with the teachers help said the prayer, repeating almost everything she said. I got sad that Cam didn't jump up and down shouting "me". Even sadder that he wouldn't have been able to repeat even one word she said. I have been stewing about it the last 2 days. Tonight I thought...why can't he say a prayer? The answer is he can. I sat him on his bed and he folded his arms and started to close his eyes. I said to him, "no mommy's not saying the prayer tonight, you are." I showed him the signs and he followed. Heavenly Father, thank you, love you, name of Jesus Christ, amen. I knew all the signs for these simple words except amen (I'm going to have to look it up) so we folded our arms for amen. It brings tears to my eyes even thinking about it. He was so excited to say his first prayer. I LOVE being his mom!