My experience of tragedy, trials, and triumphs!
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Tuesday, December 27, 2011

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.


  1. Oh Jules, my heart is breaking for you. Not because Cam isn't as perfect as you want him to be, but because I understand completely how you feel. My Maddie has to go in next week for her 8th ear surgery the 3rd major one in the last 13 months. It is heart breaking to have to watch your child go through all that testing, and even though you get a diagnosis, you still really know nothing of what to expect. All I do know is that Mothers, like us, who GET to be mothers to these ANGELS, have been chosen because we were and are among the most beloved of our Father. I feel the closest to him when I kneel and pour out my heart to him over concern for Maddie. He loves us for the sacrifices we have made to be their Mothers. He knows the desires of your heart and Cam's. Just keep listening and he will guide you. I love you and miss you and I am here if you need me.

  2. Julie...I love you...and you are an incredible, strong woman. Cam is lucky to have you as his mom...a mom that is willing to listen to those feelings you get and go after them 100%. Here is a big hug from me!!!

  3. Julie, Do you know about Yolaine Dupont's Facebook group
    X-linked Periventricular Nodular Heterotopia (PVNH)?

  4. Sorry second part of message seems to have disappeared. Over 80 families with children with PVNH have joined and excahnges stories , advice and support each other. You can join through facebook. you can also contact yolaine at
    best whishes