Category Archives: speech therapy

Along comes a milestone

 

We waited a long time for Bridget to speak. It took years of therapy and patience. I remember the first time she said “Abby”, “hooker” and “I love you”. For ages, we were Bridget’s translator to the world around her.  We knew what she was saying, the world around her usually looked at her like she was speaking a foreign language.

Over time, Bridget’s articulation became more pronounced. Suddenly, the girl without words was shouting, “Miss Tisha Look At ME!”.  Continue reading

This is SPECIAL education

In September I was terrified of Bridget entering kindergarten and transitioning from the Spinnaker program to a new self-contained special education classroom. Even though I knew the special education teacher for years, leaving the sanctuary of Spinnaker was heart wrenching.

I knew I was over-reacting and worrying for nothing. However loud the brain is shouting, the heart beat of panic is louder. Six months later I am happy to report that not only are we surviving kindergarten, Bridget is thriving.  Continue reading

You have a diagnosis. Now what?

In February 2015 there were 19 confirmed cases of people who have PACS1 Syndrome. As more children have Exome sequencing, we have grown to 32 (known) families. In a year. Thanks to this blog, I am sometimes the first point of contact for the newly diagnosed. It is a role I cherish yet at times feel sad that I cannot provide the answers they may be looking for.

Welcome to the PACS1 family! Now what? Continue reading

It’s all about language

We had a very successful trip to Bridget’s neurologist. And not just because we survived it without Bridget setting off any alarms.

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She just looks innocent

I have to confess, of all of Bridget’s doctors her neurologist is my favorite. We’ve had her since she was a fellow (no, not a Jenner) and saw her through getting her MD. We’ve seen her choosing her specialty and having her first child.  Continue reading

Autism cannot be cured

I believe in autism. I believe that so many families battle autism like warriors. I believe autism can be masked and I believe that autism can be hidden.

I do not think autism can be cured and question that it should be. Continue reading

TBT–Out of the Mouths of Babes

Welcome to Throw Back Thursday, blog style. 



(Originally posted 18-JUL-2012)

Abby is taking some summer help in math at a local school. This morning when I dropped Abby off she was telling me about the kids in her class. Some were from her current class and others she didn’t know. Abby said that there was only one other girl, a bunch of boys and one weird boy.


Weird boy, I asked, do you mean the boy with Down syndrome?

          What’s that? Abby replied.

Well he is special needs, like Boo, I explained
Oh, is that why he has a teacher just for him in the class? (Yup) That makes sense now. I thought there was something different but couldn’t figure it out. Why didn’t they tell me so I could help him?


This conversation floored me on many levels. First, Abby has intuitively known that there is something special about Boo and has accepted her without conditions. I automatically assumed that she would recognize and accept it in another child. Second, Abby attends enough of Boo’s therapy appointments to see other children like this boy. I was completely astounded that she even had to ask, or worse in her mind label this boy as “weird”.


Abby has been a staunch defender of Boo. She would never let one of her friends use that term with her sister, so why did she do it with a boy she just met? Have I failed in some way in to prepare and nurture her to accept all others like she does Boo?


Of course, I asked Abby. Not that specifically, but why she did she not understand that this boy was special. She thought because he was so big and not little like Boo he was just a boy.   I asked (just to make sure) that she hadn’t made fun of this boy. She was quick to say no, but that she wished that the teacher had told her because the other boys in the class did. Abby was so cute, telling me that she would make sure it didn’t happen again! We had a long talk about Boo and how would Abby feel if one of her classmates called Boo “weird”.


But it made me think, is inclusion working? Are the teachers and other parents explaining to their children that not all children can run, read, speak like others. Whose responsibility is it really? Mine, in some way because while I can educate/prepare Abby and she can then teach her peers. But neither Abby, her dad or I can go into Boo’s class and wake up the other children/parents. I can only be responsible for the children who interact with Boo in my presence.


Is it the teacher’s responsibility? Certainty, but how can they do this without embarrassing (not the right word, but hopefully you get my point!) the child in question. Abby thought the teacher should have let the kids know. But by privacy laws, they cannot.
I think the biggest obstacle is that the other parents are not on the playground or in the classroom with their children. So they might not even be aware, like me, that their child may be prejudging some one. Think about it, if you do not have a special child would you think to educate your ‘typical’ child about a child with Downs, CP, and autism or like Boo one who is undiagnosed? I will admit that before Boo I cannot honestly say I would have said something to Abby until she asked/made a comment in my presence.

I think as children get older they may become more aware (and yes, mean). But at Abby’s age it is just a sense of innocence where they don’t really notice differences in others until the difference is glaringly obvious.

Boo is in an integrated preschool with a not so equal ratio of special/typical kiddos. Even there I notice that some parents look at us askew when Boo is not participating like their ‘typical’ kid in the class. Once a child asked their mom what was wrong with Boo and the mother, instead of educating, told the child to ‘hush’.


So I don’t know what the answer is, if integration is worth it or how to educate the world at large that Boo just has a different sense of typical.

Being okay doesn’t mean being satisfied

A few months ago I wrote a post titled Paging Dr. House. One of the most fantastic benefits of blogging is when a reader might not comment but instead send you a lifeline. To protect her privacy, “T” wrote to me shortly after that post and encouraged me not to give up. Not to despair. But more than a pat on the shoulder “T” gave me the  name of a doctor who might be willing to review Boo’s history. She may have found our Dr. House.


So last week we took a little 20 hour road trip hoping to find an answer to what is Boo.
We were worried, to be honest. David was nervous of walking into a Justina Pelletier issue. I was excited, we might have an answer. A little nervous that we were making a huge monetary investment in a hoax. Then I got excited again. Until the day we left and I realized that answer might be that Boo has only five years left of life. I wasn’t quite ready for that news. I sent a panicked text to Tia who replied: BREATHE.

Thankfully our fears never came true. Instead we were given a new hope: finding an answer. We might not, the doctor was very honest with us. However just looking at Boo she said she was confident that not only did Boo have a syndrome but that the answer was out there. Not five years from now, but as near as six months. 

For the first time in too long a Doctor got it. A Doctor looked at Boo from her beautiful hair, to her teeth, to her fingers and toes. A Doctor didn’t talk with just me, but looked at Boo and spent time (almost 2 hours) with her. She noticed that Boo grinds her teeth, that her hands/feet are slightly webbed, that she is the best hugger and has bowed legs. She took out her medical books, laid them on the desk and said, “I’ve seen this characteristic before….” and “wait let me think about this…”

She was also honest and said we might not find the answer today but that it was important to never stop searching. She understood the why of it all. That to get Boo the best life possible we cannot be in the dark. We need to be aware of what she has so we give her the best chance at living her life that is this beautiful miracle. 

This Doctor was clear: While Boo’s tremendous advances may have “ruled her out” for certain syndromes that might not be true. Without her therapies and schooling she would not be where she is today. Her advances might be in spite of a syndrome rather than because of one. She was also honest: She might not find the answer but that didn’t mean the answer isn’t out there somewhere. 

She solidified for us that we have to continue to be warrior parents. That the hole in her heart may be “trivial” but it is important, that her temperature issues might be manageable but they are important, that Boo has dysmorphic features and they are important. In her terms, Boo has “structural issues” and these are due to a genetic syndrome and not by chance. That we need the answers because one day these “trivial” issues might prove to be catastrophic. That it is our job as parents to continue to be the thorn in the medical establishment’s side. She understood on an intimate level that this is our child, the most important child in the universe. 

Boo will have to undergo more laboratory testing. The tests take about six months to result. The six months will be worth the wait, even if the answer is we don’t know. At least we found someone who won’t stop looking with us. We will know we have exhausted every option, for now. 

Maybe, just maybe I will have to change the name of this blog from Undiagnosed but Okay to something more appropriate.

Won’t that be a cool problem to have?

Thank you, “T”. You know who you are. Thank you for reaching out and “stalking” until you found me on Facebook to offer us a lifeline. When I was in despair and worried you were willing to take time out of your life to offer me hope. I won’t forget it and hope to pay it forward someday.

My Challenge: Julia




All of us have challenges. Each and every person has to struggle to do something. This Spring at Abby’s school we charged the staff and students to share their Challenges. From the cute (can’t catch butterflies) to the heartbreaking (my mom died) every child and teacher shared.  With sharing came hope. Sharing led to compassion. Sharing led to being free to say that while the child might have a challenge, the challenge wouldn’t stop their dreams.

After I posted the program my friend Kristi at Finding Ninee encouraged me to make a Challenge Series. In reaching out to a few friends the response was amazing. May I introduce you to my first guest, Julia.


Julia is a wonderful little girl. We first met her and her family at the Pediatric Therapy. She spends hours each day working in school to learn how make her cerebral palsy work for her. This little girl is a fighter. Defying the odds and expectations of anyone foolish enough to try to put limits on her. Julia loves swimming, horseback riding, picking her sister up at the bus stop and bike riding.

Julia is 5 years old and her challenge is Cerebral Palsy. But don’t feel bad for Julia’s challenge, she just needs some extra time and help. Her smile says it all: Her Challenge makes her stronger.

There are over 800,000 persons in the US with Cerebral Palsy. Cerebral Palsy is a group of disorders that can affect movement, learning, hearing and thinking. Like many other syndromes, children and adult with Cerebral Palsy are as unique as their personalities. To learn more about Cerebral Palsy please visit United Cerebral Palsy

Thank you, Julia for sharing your smile with us today.

This is the inaugural post for the My Challenge Series.  To submit your challenge, take a photo holding a sign that says, “MY CHALLENGE IS X” with a short about how you do not let your challenge define you to firebailey@Gmail.com

The joy of language

Boo gives me a lot of atypical milestones, moments, frustrations and joys. Every once in a while, though Boo gives me that typical parent moment when I realize even special children are typical in ways never imagined.

Boo has worked so very hard to obtain language. She has been in speech therapy since she was in two years old. Her therapists have never given up on her. They have persevered, coming up with new techniques, scaling things back or pushing her forward as warranted. 

Like most parents the first time you hear your child babble on the baby monitor you lay there and smile, rejoice and wonder what the heck they are saying.



When you go to their room in the morning and they greet you like you just missed the best dream ever your heart warms.

And if you are a normal parent by 7 pm you just wish they would stop talking. When you tire of trying to decipher what they are trying to tell you. Even as they crack you up.





I live for these typical moments. The moments that most parents, to some extent, gets to witness. The babble, the random words and the expressions. Things five years ago I never imagined.

Even as my ears ring.

A special thank you to Boo’s numerous therapists for giving me these moments.

And yes, Boo is still wearing her Halloween pajamas. And yes, I know it is May. Don’t judge.