Female / 12 years & 6 months

M.’s Journey

Share the first part of M.'s story for readers on Sleuth! When and why did you start to feel concerned?

I had a little heads up that things might be different. At the amnio, they found a marker on Chromosome 17. This was back in 2008. My daughter is 11 years old now. I went to everybody I could find: my doctor, other doctors, other specialists. I said, “What would this look like?” because the genetic counselor at the obstetrician’s office was trying her best to persuade me to abort. She went as far as to propose a date. They didn't know what a marker on 17 meant, or what it would look like when my daughter got older. My daughter looked okay in the sonogram. Finally, I found a genetic specialist who said it would look like learning disabilities and wouldn't show up until she was in elementary school. I'm a teacher, so I thought, “How could I possibly abort a child who has learning disabilities?” Anyway, the birth proceeded, and everything looked okay. This was my first and only child. I had no idea what to look for, or what the milestones were. Then, as she got older, it was clear there were issues with her development. She didn’t roll over. She didn’t sit up. She had hypotonia: she was like a rag doll with no muscle tone. She did make good eye contact, though. She talked early, before two years old, and has never stopped talking! She crawled late - two weeks before she turned two, and then she started walking at two or thereabouts. She couldn’t climb the steps, initially. She couldn’t run well. She has always had a problem with the right leg not quite keeping up with the left. She definitely has signs of ADHD. She has a very poor attention span and very poor frustration tolerance. She’s a brat, if there’s not a better term. She’s very oppositional. She wants what she wants, when she wants it. And she’s also needy. She always wants attention. She loves negative attention the best. It’s like she’s an addict, and her drug is being yelled at or being scared. She should eventually be a skydiver because she loves that high. She likes this more than positive attention. More than: “Hooray!” She’s really good with language, and has a really good memory. But she behaves like a two-year old. Except that a two year old goes and destroys something because they don't know better; she will destroy something because she wants to get a reaction. She’ll rip her book. She’ll grab a plant. We have to baby-proof the house. Knives can’t be out. She’ll grab one… She did it twice yesterday, because my brother made the mistake of leaving one on the island in the kitchen.

What was your experience, if any, seeking a diagnosis or treatment?

I have an official diagnosis now. Ten years later, I found out. But they didn't have the technology in 2008, only enough to drive me crazy. Her developmental pediatrician encouraged me to get genetic testing. The diagnosis is that she has 11 chromosomal duplications on chromosome 13, but they still don’t know what that corresponds to. (As far as getting the testing, my insurance did pay for it because they had already seen issues at the amnio.) At around 6 months, we did Early Intervention. It wasn't really helpful. I don’t think her physical therapists were good. She hated it. She cried, and made a fuss. She couldn’t tolerate being on her tummy. She’s had physical therapy for a long time now. And as someone who has been dealing with physical therapists, and even had physical therapists myself, I feel like the people she had were not the best. Looking back, I should have gotten her occupational therapy earlier. Of course, I didn’t know to get her OT. I just thought she needed physical therapy. They gave her an evaluation for OT, but I didn’t pursue it, and they didn’t pursue it either. I should have said, “Of course, she needs OT”. As a teacher, I see quite a few parents who are in denial and don't take advantage of what Early Intervention and the Board of Education will offer. My daughter has had PT, OT, speech and counseling since pre-school through the Board of Ed. Everybody should take advantage of whatever the Board of Ed will give them. Get Early Intervention and when the time comes, do the IEP (Individualized Education Program). The earlier you get help, the more you can do. She went into a pre-K special ed program, and she’s been in special ed ever since. She currently is in a 12-1-1 (no more than 12 students per class; one full-time special education teacher; one full-time paraprofessional), and she has a full-time para. There are other skills that she couldn’t do, like she couldn’t drink from a straw. The OT and speech helped her. She couldn’t kiss for a long time. Her therapists taught her how to pucker and kiss. Now, her gross motor skills are doing well. She runs if she wants to. She is a toe-walker a bit, but her physical therapist says it’s just habit. She went to a special ed preschool on the 4th floor of a building, so she had to be carried up. And then, before long, she was climbing steps better than I can do. But she's very delayed with fine motor skills to this day. If you ask her to color, she’ll scribble like she’s two years old. And she wouldn’t even do that a year ago (when she was 10). In addition, here's one that’s difficult, she still wears a pull-up. Other doctors? She did see a pediatric gastroenterologist, because she may have IBS, but the doctor said she was fine. She has been to the cardiologist twice. When she was little, they saw a space or a hole in the wall of her heart. Years later, they didn’t see the space anymore, and they inferred that it had closed as she aged. She doesn’t really have autism. She’s very loving and makes good eye contact. Physically, she’s all over me - sometimes too much, so. But she has some autism-like symptoms such as repeating herself. A therapist who specializes in diapers said, “Why don’t you start ABA” - ABA is Applied Behavioral Analysis. I recommend it, but a lot depends on the ABA technician you get. The first one was horrible. My daughter is smart and she knows how to push your buttons. She could tell immediately if you were going to be tough or not. Fortunately, we next got someone who works as a paraprofessional at her school who was very confident. We’ve been doing this for a couple of years now. To get the ABA, she needed an autism diagnosis from her pediatrician.

Do you have any other thoughts or advice you would like to share from this experience?

She needs friends. I’d like to find similar children. She gets along best with younger kids. I guess partly that is because young kids pick up on the fact that there's something different about her, but they’re not interested in those differences. When she goes to the playground and encounters a four year old or a five year old, they have the best time playing and she's probably more at their level. I have asked the geneticists to try to connect me with other people who have a similar chromosome set, but I was told sadly that her combination is very rare. They don’t know of many others in the world. I’d like to just see the progression of what’s going to happen next. What’s going to happen when she’s 20 or 30? Will she have a long life? Will she grow out of some of her limits, like she did to walk and climb steps?


Below is a timeline of M.’s observed symptoms, diagnosed conditions, and treatments and therapies.

M.'s Medical Notes

Signs & Symptoms

Diagnosed Conditions

Treatments & Therapies

Additional Info

On Early Intervention

(11, 0)

On Trisomy 13 Syndrome

11 duplications on Chromosome 13

On delayed fine motor skills

She still scribbles with crayons like a two year old, and would not do that one year ago (at 10 years old).

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