Like the medical issues, we did not appreciate the full extent of Tommy’s developmental issues right away. They started slowly and subtly, and revealed themselves progressively. He took much longer than we remembered with our other children to hold his head up by himself, but it was big. He was late in all his milestones and his muscle tone was very low but we were not concerned. He took his first steps at 16-months (after 6 months of physical therapy) and he did not really eat solid foods until he was about 2-years old (after 1 year of a speech therapy working on the muscles of his mouth). But in our minds, he was a large boy and was struggling with asthma so his development would catch up when he was healthier. At age one, he had started speech and physical therapy through Early Intervention. Our pediatrician recommended this just to be cautions as a head MRI had shown he had minimal external hydrocephalus. We went to a neurologist and his private speech therapist as well. Honestly, we did not learn anything from them except that the neurologist had a famous neighbor that he liked to talk about and was pictured with him in his office. We found that the EI therapists were amazing. It was the EI therapists that suggested and guided us through the process of getting more developmental help for Tommy. His physical therapist said one day “we have a big problem here” and she helped us set up a psychological assessment when Tommy turned 2-years old. His diagnosis was “mild to moderate PDD (Pervasive Developmental Delays)”. His non-verbal cognitive status was in the 16th percentile and his verbal abilities were below 1st percentile. With this diagnosis, we added 12 hours per week of ABA therapy in the home and floor time therapy for 45 minutes twice a week in addition. He attended school at the Westchester Center for Educational and Emotional Development in Valhalla, NY 5 days per week for 2 ½ hours where he received speech, occupational and physical therapy.
In the fall of 2006, Tommy was evaluated by CPSE (the Committee on Pre School Education), which takes over EI when a child turns 3. The diagnosis was still mild to moderate PDD. His cognitive score was 25th percentile and his language composite score was 3rd percentile. With this evaluation, Tommy started preschool at JCC of Midwestchester 5 days per week for 2 ½ hours with a dedicated aide where he received speech, occupational and physical therapy. ABA therapy continued at home for 12 hours per week.
Our concern grew as we were not seeing much improvement in spite of everyone’s efforts. It was an amazing team of people. Although our district did not suggest services, they were reasonable and efficient in granting them once we made a request. We had two wonderful service coordinators through EI and then CPSE. We were lucky. Our source of information as to what services we should request for Tommy and what evaluations we should do really came by asking a lot of questions to the therapists and teachers that worked with Tommy. As his school teacher very gently told us, but it was loud and clear, his progress reports really did not need to be updated each quarter (as there has been no progress). And then there were the whispers in the hallway from the mother who was devastated that her son was in Tommy’s class. Then at home, one of his home ABA therapists had a breakdown one day when she was with Tommy. She got very agitated, told us that he was “unteachable”, and left the house. We replaced her, but we were getting more nervous.
We began looking at alternative therapies. We tried music therapy. We bought a special CD player and huge headset and special CDs that he was to listen to at various times during the day. Tommy got used to wearing the headset until it fell in the bath tub and we stopped. We hadn’t seen any improvement. We went to a private therapy coordinator recommended by a friend. She was expensive and we didn’t learn anything. We had a private evaluation at the Soiffer Center. We didn’t learn anything new about Tommy but they had two suggestions. First, was to keep a written medical and developmental log for Tommy with a list of all his doctors. This has been invaluable as now we just forward it to every new specialist that we see. Second, was to see a psychiatrist for Tommy who might suggest developmental drugs if appropriate.
Our desperation was growing not only because of the negative reports we were getting on Tommy’s progress, but also because Tommy would not sleep at night. Instead, nightly, he would get out of bed (Tommy no longer fit in his crib) and smear feces all over the room. Since Tommy has multiple bowel movements throughout the day and night (there is a theory that people with a PTEN mutation have lazy GI nerves and therefore have difficulty coordinating a full bowel movement), we were dealing with this nightly. We would hear loud screams and pounding on the floor of his room. Every night we went to sleep knowing that within hours we would be awakened again. We tried giving him Benadryl at night, but it worked for a few hours and then he was up again (there is also a theory that people with a PTEN mutation metabolize medicine quickly) . We were tired. And all day long, Tommy was constantly stimming. He needed to be refocused any time he started any activity. We went to see the psychiatrist who put Tommy on Zoloft, an anti depressant. Tommy was not depressed, but it had been shown that anti depressants increase language in some autistic children. We saw a small jump in his language. Then we added Risperdal at night, an anti psychotic that was supposed to help Tommy sleep better and might improve his focus and language during the day. We saw a mild improvement in both sleep and language. But then he started breaking out in red, large, itchy hives and his doctors thought it might be the medication. We eventually took Tommy off both drugs because the hives. For a few weeks, Tommy became aggressive and would bite us and have tantrums. We suspect that taking him off the drugs so suddenly caused this. We were back to no sleep and he stopped talking altogether. The language he had before we started the drugs came back in a week, but for the few days he did not say anything we were very sad.
We started potty training Tommy when he was 4 years old. We would take him to the bathroom every half hour, then every hour and now we are up to every hour and a half. After years of this, he understands how to wait until we take him to the bathroom. He doesn’t request to go; and he frequently has accidents. He has a clean diaper some mornings.
We tried to get Tommy an assistance dog that is trained to accompany children with autism. The center we worked with lent us a beautiful golden retriever that was in training to see if Tommy’s lungs could handle the dander and fur. Unfortunately, Tommy’s lungs could not.
In 2009, Tommy aged out of CPSE and moved to CSE. CSE conducted their evaluations. After a heated discussion, he was classified (classification is a required step to receive educational services from the school district) with “Multiple Disabilities” at the school district’s request rather than “Autism” as we wanted. The discussion was heated because the classification of Multiple Disabilities by definition was really an unstated acknowledgement that Tommy is mentally retarded (although we like to believe that we fought for the classification of “Autism” because it was the only one in New York State at the time that carried with it the provision by the school district of certain mandatory services to the student). To this day, nobody has actually told us that Tommy is mentally retarded in so many words (but it has been gently offered to us through this classification and in forms where “cognitive impairment” has been checked off by a specialist). If we remember correctly, his cognitive and verbal scores were all below 1st percentile in the 2009 CSE evaluations.
Tommy is in a self contained special needs classroom at Osborn Elementary School, Rye, New York (our local elementary school) with up to 8 students, a teacher and an aide. He receives speech every day, physical and occupational therapy twice a week. He participates in gym, music and art with the other children in the school. We spent countless hours working with the school to put together an Individual Education Plan that will enable Tommy to learn the basics (colors, numbers, his name, address and phone number, how to eat, etc). He has an augmentive communication device and touch screen computer equipment to assist him. His classroom is airconditioned when it gets hot and we provide an air purifier. He has been received so kindly by everyone at the school. We encourage all the children who he sees every day to ask us questions about Tommy so that he is not frightening to them. We like to tell them that there is no question that they could ask us that we haven’t asked someone ourselves.
At home, we pay privately to have his wonderful, long time ABA therapist come twice a week to give him therapy. Unlike traditional ABA, she focuses more on teaching him daily living skills, like dressing himself, brushing his teeth and potty training, and language.
In the summer of 2010, we started Tommy on Ritalin in the mornings. He seems a little more focused. We give him melatonin at night to help him sleep. He is sleeping better and doesn’t smear as much. We are doing the best we can.
In August 2010, Tommy had a full psychological and developmental work up at the Cleveland Clinic Center for Autism as part of an Autism study being led by Dr. Thomas Frazier. Dr Frazier provides families with a complimentary write up of the results and treatment recommendations. That study concluded that Tommy has significant autism symptoms. For persons with PTEN mutation and autism, researchers at the Cleveland Clinic informed us that developmental progress has been extremely varied and unpredictable.
Tommy started putting his head under the water in summer of 2010. We were so excited. We took pictures and video and sent them to our relatives. Tommy loves to swim, play in the sand, and watch t.v. He loves to be outside and go for long walks. He has a beautiful laugh. He gives lots of hugs and kisses. For the most part, he only knows and cares about what is going on at that very moment (though now when we tell that we are going to the pool or the ice cream store or the library, he gets very excited). He focuses all of us on the present.
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Archived Responses
Thank you for all the responses we have received! They have really helped us. Due to technical problems, we lost all the responses on the site but sought to reinput comments sharing or seeking medical information.
Lucy – December 12, 2010
What an amazing site! Watching the video on youtube made us all cry because finally we found someone who looks like my niece!
Daisy is the most amazing little girl. She is 5 years old and was diagnosed as having PTEN last year after years of tests and scans. Her MRI was emailed around the world to various doctors and it was actually a Dr in Holland that noticed something wrong with her brain and that they should look at her DNA at the PTEN gene.
Her eyes and nose look exactly the same as the little boy on the front of this site.
We watched the video on youtube and it was scary seeing everything that Daisy does!
She has a large head, isn’t potty trained, only eats certain foods (toast, chips and chocolate) despite us trying everything to try and encourage her to eat something different.
She is unusually gifted with numbers and loves music. She can listen to a song once on the radio and remember the melody instantly.
She hates new people and until recently her speech was limited.
She is currently in a mainstreem primary school but we are trying to have her moved out into a “special” school where they will be better equipt to look after her.
She is a very tall little girl and is becoming very physically strong.
She LOVES Dora the Explorer and would watch it all day long if you let her! She also loves Pepper Pig and Team Umizumi.
We would love to hear from anyone living in the UK with a child with this condition. It would be good for my sister (Daisy’s Mum) to speak to others about what they have been through. She is a single mum and only 22 and I know she finds it really hard sometimes. Just being able to speak to other parents about some of the issues she has with Daisy would really help her feel like she isn’t alone.
It is a hreat website and just seeing another child that looks like my niece was really emotional. It is just nice to feel like we aren’t alone.
Thanks again.
Lucy
Lucy – December 12, 2010
Hi Lucy, Thanks so much for telling us about Daisy. It sounds like Daisy and Tommy have a lot in common. Is Hannah on Facebook? There is a great facebook page where we discuss our children. There is one other family from the UK with an older boy. His story is on the first page of Tommy’s website. We can help Hannah. I’m sorry she has to deal with this as a single 22 year old mother. Lucy
Mike – March 26, 2011
Lucy,
Thank you for this site. Our little boy Nate (7 years old) is similar to Tommy. He went through periods of no sleep. Once we started him on probiotics it really help him sleep. We tried several drugs and did not have success with any of them. All of them made him more irritable and aggressive.
Nate is non verbal. Last year we saw a story on a 11 year old girl who did not talk, but one day started using the computer to type what she was thinking. This gave us the idea of getting an iPad. He loves it. It is really the first toy he has really liked. There is an app “MyTalk”. This is a great app. He uses it communicate his wants.
Because of this site, Nate will be a part of the study with Dr Frazier. We will be traveling to Cleveland (we are from Raleigh, NC) in June. While we are there, we are going to also see Dr Eng.
Thank you and good luck.
Lucy – March 26, 2011
Thanks for your comment. I’m so glad you are going to Cleveland. I hope you get as much out of it as we did. Tommy has an IPad and loves it but we have not tried the “MyTalk” app. Will download it today. How did you decide to use probiotics? What a great idea. Would love to hear more about it. best, Lucy
