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.”

10 Responses

  1. Angela - December 29, 2011

    Updates on my Orrie 12/29/2011:
    After Orrie’s bloodwork last year, we finally had a medical diagnosis. Orrie does in fact have the PTEN mutation. In the past year we moved Orrie to a daycare that has a special needs teacher on staff, therefore eliminating home visits from less than spectacular county employees. He loves his new daycare and Ms. Kim, and is very excited to start Kindergarten next September.

    We also saw the GI department at Children’s in CD, and all the tests were normal. No polyps or rashes. We have been for follow ups with all of his many doctors and thankfully, everything seems to be going smoothly at the moment. He is beginning to write his name and color (He absolutely refused to try crayons or anything prior to a few months ago), He is counting to 100, riding a scooter, and we even tried ice skating (The lack of muscle tone didn’t cooperate with the ice skating), but he LOVES hockey. He is a huge CAPS fan, and has been to several games! Orrie has made a few select friends in school that he babbles about sometimes. His speech has grown, but is still extremely limited, however he has become increasingly more aware of other peoples feelings. Orrie still maintains a mostly gluten free diet. He is still on the autism spectrum, and when we started the gluten free diet, he seemed to shine brighter and was just healthier overall, so we try to maintain it as much as possible.

    He is learning the piano, and drums. He has a small karakoe machine and and performs for anyone who will watch. The only thing he EVER wants to do is listen to music. His favorites are Queen, Aerosmith, Peter Paul and Mary, and The Dutchess and the Duke. Right now we are working on his attention span and trying so hard to get ready for Kindergarten. He is a real character in Pre-school, always interrupting and singing and dancing… We were given the option last month to give him ADHD medication, but we declined for now. I know that we still have many challenges ahead of us, and that he could develop other symptoms at any time, however I look at each day as a gift with him. He is so special, unique and popular with his peers. Everyone seems to know him. As I said, I am not religious at all, but I am so thankful to whatever powers that may be that I ended up with this special child. He is a true star. The most amazing person I have ever met. It has been a pleasure to read everyone else’s story, it truly makes understanding this a little bit easier. Thank you to all that shared and that take their time to maintain this site.

  2. Angela - December 29, 2011

    Is there anyway to send a picture of Orrie?

  3. PTENLife - January 3, 2012

    Yes, just email to my at lucy@dabinett.com. I would love to post.

  4. Moya Lore - January 13, 2013

    Dear Angela you are describing my son’s journey. I felt that something was not right since Matias’ birth. I can wait to see his picture
    Lore

  5. Jamie - May 4, 2014

    Yes…your journey sounds very familiar to mine. I knew since my twin boys were a few months old that something didnt seem normal to me about my “Twin A” Trey. I am waiting on the results of his PTEN test now. It is nice to know that I am not alone in this..

  6. Angela Martucci - June 27, 2014

    6/27/14 Updates on Orrie:

    In the last 2 1/2 years, not much has changed. Orrie did well in Kindergarten and 1st grade, however he is switching schools for 2nd grade. He maintains his autism or asd label, and has been in an autism classroom for the last 2 years. Next year we are looking at the other special education programs within the county, as he is in many ways more advanced than the other children that have been in his classroom. His health has been pretty much perfect, except for headaches that he complains of frequently, which resulted in one fever seizure early this year that was chalked up to “normal” by his physicians. After the seizure I insisted on an MRI of the brain from his Neurologist, who complied thankfully. The MRI was clear with nothing to worry about. Other than that, he hasn’t even had a cold that I can remember. He has always had issues breathing through his nose, and now that he wants to swim all the time and ends up drinking the water, we returned to the ENT in April. We were told that his septum is severely deviated and that he should have a septoplasty, they also mentioned his bifid uvula causing the loss of air to his nose, but said that surgical procedures for that should be later in life.. So.. a septoplasty is in the plan, just not immediately. We did try some ADHD meds briefly, but that was not a fit, and I don’t believe we will try them again unless it is the last option.

    With the excessive medical bills that have run through medicaid for Orrie, some random 3rd party billing administrator contacted me and had me do an application for disability. I had attempted to get disability for Orrie a few years ago but was denied because I make too much money… So the new application is in process. I don’t know if it will be approved, but I hope so, just for the stable insurance.

    Last few things that I can say that may be of help or possibly relate to another child with BRRS is this: Orrie is still the friendliest person I have ever encountered. I worry that this cruel world will destroy a sweetness that is unsurpassed. Orrie has somewhat of a photographic memory… He can meet you one time, ask you a serious of personal, out of line questions, see you a year later and remember every detail. His specialty is birthdays. Its amazing but strange at the same time. I hope he can learn to focus this knack for dates and facts on history or science or something that will help create a great future. The child went from non-verbal to non-stop. He never stops talking, not even in his sleep sometimes. You can almost see the synapses firing in overdrive through his giant head when he talks or asks questions. He stumbles over his own words and thoughts figuratively and literally. The other day he almost fell down the steps because he wasn’t paying attention to his movements, only his questions. Lastly, due to his sweetness and friendliness, he is a target for abuse and bullying, and this issue has recently arose in our world, which spawned me to update Orrie’s Story…

    Sometimes I forget that he has this syndrome or autism or that he could be forming cancerous polyps as we speak, because he is such a force of nature. He makes his presence known, and if you ignore him, nobody will have any peace. He is still a music loving, peaceful happy child. He just talks more than the average human, and remembers everything.. (perhaps he is making up for lost time) I love that child more than I realized was possible. He tests my patience and intelligence everyday..

  7. Jess - June 29, 2014

    My older brother has BRRS. He is currently 23 years old and I am just beginning to understand him. We were 18 months apart growing up and I always knew he was different but he wasn’t officially diagnosed until he was about 13yrs old. He had macrocephaly, delayed speech and motor skills, suffered minor seizures for a short period of time (maybe 3 total seizures in one year around age 7 or 8). They originally diagnosed him with autism but not all the pieces fit. He was very sensitive to loud noises, became upset when things didn’t go as planned, and has always been quick to anger. He is the nicest guy you will ever know if you give him a chance. He has been picked on by so many people, he doesn’t really have any real friends but he has a huge heart and will do anything for anyone who asks. He is a hard worker but struggles with time management and organizing priorities. He becomes very involved with music or tv shows (mostly reality shows) that it engulfs his life. He is in college now working on a masters in business and working a full time job at Wegmans. Many things you have described about Orrie remind me of my brother. We were told Jimmy would never drive or live on his own. He got his license at age 18 and isn’t the best driver but in our small area, he has done well. He still lives at home with our father but I can see him being able to live on his own maybe 10 years or so down the road. He is becoming more responsible and starting to learn how to manage his time and money. He sees a counselor to help him deal with his anger issues and his management issues. I am thankful for all the doctors that have helped him and for all the time and hope my father has invested in my brother. He may drive me nuts, but he is my best friend. I wouldn’t have him any other way!

  8. stuartkasin - July 21, 2014

    Hi, my name is Stuart. We have a lot of similarities in that our sons have had some of the same exact journeys. My son was born in Reston and has been diagnosed with BRRS by Kennedy Kreiger in 2004. We have shared that frantic ride to INOVA Fairfax…would love to talk off line. We just got back from seeing Dr. Eng in Cleveland – 4 days ago.

    My son is 12…going on 13. Would love to talk offline, I would love to share some 12 year developments. My email is stuartkasin@me.com.

  9. Ann - February 9, 2017

    My son was diagnosed 27 years ago with BRRS st the Kennedy Institute. He was part of DrEngs PTEN . The study confirmed he had The PTEN mutation.

  10. Alecia - March 21, 2017

    Hearing this story of your wonderful little Orrie is like reading a story of my own son, Reise. Reise was born with macrocephaly. He was not meeting the normal milestones other children were meeting (particularly speech). He had no words by the time he was 2. We got him into early childhood speech and OT therapy. He also had weak muscle tone in his hands and was growing at an alarming rate. He was diagnosed as “globally delayed” and one of the specialty doctors was going to throw that “Autistic” label on there as well, but it just didn’t fully fit. Reise made great eye contact, was loving, smiled, loved to be held, kissed and hugged. I asked for an MRI. His doctor reluctantly agreed. From the MRI we learned that Reise has fatty tumors (lipomas) in the area where his corpus collosum should be (the area that separates the 2 hemispheres of the brain) and areas of white matter in the brain. They ended up going further with it and found that he has lipomas along his spinal cord as well. He also suffers from chronic constipation. Through speech therapy, he has learned to speak and his speech continues to improve. When you said that Orrie has a photographic memory, my jaw dropped. Reise also has a photographic memory and is particularly drawn to numbers. We realized this when he was in Kindergarten…. every student had a number for the day and that number was attached to a certain task…Emily might be #4 and the task for #4 might be to water the plant. One student was absent in the class on a particular day and the classroom aid came to get the students from PE class and asked them to line up according to their number. The one student was missing from the line, and Reise said that students name, number and task. The classroom aid then asked him some other kids’ numbers and tasks for that day. He knew every single child’s number and task in his entire class (about 20). We found out that he would go to board every morning, stare at it for a couple of seconds, and in those couple of seconds, he had them all memorized (or his memory took a photograph). The tasks and numbers changed every day, but every day within a couple of seconds, he had then memorized. He also does this with birthdays like your Orie!! Math obviously, come very easy to Reise. Reise is also such a sweet, caring boy of almost 10 years old. He has one good friend. I worry about him all the time. I hope the world doesn’t take his sweetness away with it’s endless supply of bullies and that he finds his own path in life.

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