Orrie’s Story

In the words of his mother, Angela:

“My son, Orrie, is 4 years old. He was born in October of 2006 by C-section due to failure to progress. Good thing… because when we finally met Orrie, he was amazingly beautiful, with a head that was OFF the charts. Orrie was about 8 1/2 lbs and 20 inches long. Very average. There were no complications during the pregnancy or after he was born.

When Orrie was 30 days old he seemed lethargic to me, so we took him to his pediatrician. She was worried about his failure to focus and his head size and said that it might be spina bifida. We were made to rush directly to Children’s Hospital in Fairfax without any reassurance. (I thought my newborn baby was dying). That doctor scared me so badly, I drove to the hospital at over 90 miles per hour with a month old baby in the car. At the hospital Orrie had a CT scan of his head. The results were normal and we were sent home.

Over the next several months, Orrie failed to meet his milestones. With the large head he had a very hard time sitting up and lifting his head. He crawled at about 8 months, but before that, he would do a head crawl. He would lie on his back and arch his entire body with the weight pressure being put onto his head and look behind him (upside down) Its kinda hard to explain. It was cute, but a direct result of how heavy his head was.

He was a very happy baby. He ate well, slept well and liked normal baby things. He started walking around furniture at about 13 months and finally walked on his own at 16 months. However he had never said one word. We were able to get him enrolled in the pie program (early intervention infant/toddler program) through our county. He saw a speech and occupational therapist twice a week starting at about 18 months.

We were so worried about him being non verbal that we tried every avenue. He would drool constantly, going through 5-7 shirts a day. First we went to three different ENTs (including an adult ENT) and all the hearing tests came back normal. The last ENT said that we should remove his adenoids and tonsils. So 2 days before Orrie turned two he went to childrens hospital to have tonsils and adenoids removed, as well as having his tongue clipped. The procedures helped with the drooling significantly but he still wasn’t speaking. Orrie started at Childrens Hospital with a formal speech pathologist around 2 years old as well. He still sees her every Friday as well as seeing therapists through the county. He started using single words a little after he turned 2 thanks to all of the therapy. He also entered into a daycare facility around this time.

At about 2 1/2 we took Orrie to the Neurology dept. at Children’s in DC. They did a MRI of his head and 3 rounds of bloodwork for various testing. All the bloodwork came back fine. The MRI showed white spots or white matter in certain areas of his brain. We were told that this was being studied in children with development delay, but they couldn’t give us a diagnosis. We have taken him for followups with Neurology 3 times since then.

All of his doctors and teachers stated that it was developmental delay and that we would be able to catch him up over time. Over the next year Orrie progressed, not rapidly, but he started repeating (echolalia) a lot of things. No real original thoughts though. At three he moved into the older children’s program through the county and his services were cut back to once a week, since he was, according to them, doing soooo much better :/

We finally switched him to Kindercare in March of this year, when he was about 3 1/2. He excelled with the new environment, but was still at least a year behind the other kids. Over this past summer, right before his 4th birthday he started jumping off two feet and pedaling on a tri-cycle!!!

At some point his regular doctor referred us to a specialty pediatrician to get a formal autism diagnosis in order to get him more services. We finally were able to get Orrie to that neuropediatrician in May after waiting about a year. She did a full medical history on Orrie and caught somethings that we had never pieced together. She gave him a formal autism spectrum label, but she also wanted us to see a geneticist. We told her that he has almost OCD when it comes to the bathroom, washing his hands and a few certain things, but most specifically his bathroom habits seem to be almost obsessive. He also had some dark pigmentation on his penis that we had mentioned to his pediatrician, and were told it was normal. So this new very knowledgeable doctor sent us to see genetics for PTEN testing.

We went to genetics this past Wednesday. With Orries macrocephaly, pigmented penis, development/autism delay, deep set eyes and turned up nose, she gave us a clinical diagnosis of Bannayan Riley Ruvalcaba Syndrome. Since Orrie has some major bathroom issues, she referred us to the gastroenerolgy dept. while waiting for his PTEN bloodwork authorization from the insurance company.

I lucked out. The GI dept had a cancellation and Orrie will be seen on Monday and they will be scheduling a colonoscopy. He also will be getting his blood drawn in the next few weeks for the formal PTEN testing. The genetics doctor told me that no matter the results they will maintain the clinical diagnosis in order for him to have constant screening for any cancerous growths or polyps.

The crazy thing about all of it is, I knew that something was wrong with Orrie within the first month of his life. I was told several times that I was crazy and overprotective and a new parent that was just scared. I was even told by one doctor that I should have another child, because children with siblings thrive more than only children. I never let it go, because I knew in my heart something was different about my son. I am thankful that my “mothers intuition” was so strong. Orrie is a gorgeous 4 year old, who loves adults more than children, loves music and vegetables. He wants to give everyone kisses, even himself in the mirror. He is the sweetest most loving person I have ever met in my life, and I hope that he has a long and happy time on this earth. We are not religious people or believers of any kind, therefore I am depending on the medical research and screening to guide us on the journey we have before us.”