We are the Lucky Ones

We are the lucky ones. 

That phrase is hard for me to say. There are a lot of things in our family life as a special needs family that are not easy. There are times I don't feel lucky. There are times I want to scream. There are times I want to cry. There are also times I laugh and laugh because we are having so much fun.

I say we are the lucky ones because it's back to school time. That time most special needs parents dread. Most are prepared for a fight. A fight with teachers.  A fight with school administration. A fight for the future of their children.

I am a member of special needs parent group on Facebook. I have already seen post after post of parents who have to fight to get their kids an education. Some schools don't want to have to figure out services. They want to bus kids elsewhere. They don't want to hire staff for those kids who require a one on one paraprofessional.

We are among the lucky ones, because so far, we haven't had to have these fights. It breaks my heart to hear the stories some parents have about the way their families and more importantly their children are treated.

We are lucky because our experiences in school so far have been nothing short of amazing. Maddy is on the autism spectrum. She is non-verbal. I've never been so scared in my life as I was last year when Maddy started kindergarten. Maddy has amazing paras who truly love and care about her. They communicate with us through a notebook we send back and forth.  And luckily, those same two paras are her paras this year. Maddy is now in first grade. These two women are like family.

I was nervous this year, as there have been so many changes to staff this year. Maddy has a new case worker, a new principal, a new occupational therapist, and of course a new teacher. That's a lot of change for a kid who does well with routine. So far, things have been great.

We talked to the new principal earlier this year about sending Maddy's i-pad to school. We recently purchased one and put a very expensive communication app on it. This app is a PODD system that is exactly like the one the school started her on last year. It has the same type of pictures. I know some schools refuse outside devices. Ours had no problem. I offered to sign a liability waiver (lawyer momma came out) if necessary.  He made it seem easy. I was so grateful.

We talked to Maddy's new case worker at the open house and I felt good about the meeting. We had some concern because we'd heard Maddy was going to have a new para. She was quick to inform us that it was someone Maddy had worked with in the past and that she would not put someone who wasn't familiar with Maddy with her. That took a huge load off my mind. It turns out it worked out that Maddy got the exact same paras she had last year.

We are lucky because our school is inclusive. I know there will be bullying some day. It's inevitable with kids as a phase of life to tease and make fun of others. But right now, so many kids know Maddy and always say hi to her when we are out in public. Staff, kids and parents I don't know routinely say hi to Maddy and smile at her. At Maddy's kindergarten "graduation" program last year, staff (including the music teacher) went out of their way to include her in the program. Each kid had a line to say. Maddy's line was recorded on a taking device by her teacher and Maddy got to push the button to replay it. Things like that don't happen everywhere. 

I am so thankful that we live in such an inclusive community.   I am so thankful for school staff who love and care for our daughter everyday. THANK YOU from the bottom of our hears for loving our daughter. You are what education staff everywhere should embody. In this way we truly are the lucky ones.

Communication Breakthrough (PODD system)

Recently, Maddy’s school got a PODD system. It stands for: P- Pragmatic= the way we use language socially O- Organization= the arrangement of words and symbols in a systematic way DD- Dynamic Display= the changing of pages. *Source (http://www.myeasybee.com/blog/podd-intro/) For those that don’t know, Maddy is non-verbal. She doesn’t use words to communicate the way you or I do. We (both at home and school) have tried other methods of communication, such as sign language, a PECS (picture exchange communication system), etc. While the PECS is similar to a PODD system, the difference is that with the PODD system, all the pictures are arranged in a book by category according to how we would speak in sentences.

Maddy started using the PODD system at school right before Christmas. Shortly after the holiday break, we had an IEP meeting and discussed the new system among other things. Her teachers were all very excited to talk about how fast she was adapting to the book and how she’d already begun to use is on occasion on ask for something.

After the IEP meeting, school began sending the book home. The hope is with this system that she can take this book everywhere and use it to communicate to anyone, not just close family and teachers. We haven’t pushed its use too hard at home, but every night, I take the book out of Maddy’s backpack and make sure it is available to her. Many times, she will actually take the book to the couch and flip through the pages looking at pictures. I guess at this point, I feel like it’s good for her to look at it in a non-stressful or pressured way.

That approach seems to be paying off.  One of the pictures has the caption “Go Away”. Maddy has pointed at this picture when she is mad or frustrated with me (for example, after I give her some medicine). She also thinks it’s quite funny to point at this picture and give me a devilish grin. I always say, “Go Away?” in a very offended tone and she laughs at me. I often reply with “You go away!”, which makes her laugh harder. Her teachers have commented more than once on Maddy’s sense of humor and marvel at how she is able to get her jokes across even without words. The devil grin says it all.

Another recent breakthrough was when she asked me to read her a story. Maddy never wants me to read her a story, preferring to hold the book herself and be in control of the page turning. But, on that night, she pointed to the read me a story picture. I asked her almost in disbelief if she really wanted me to read her a story. She nodded her head yes with a bright smile on her face. It was all I could do not to dissolve into a puddle of happy tears. I started to read her a story. She let me get about 3 pages in before she took the book from me. But, it was progress none the less.

I’m so happy that the school was able to purchase this system and make this type of communication possible for Maddy. We’ve never had such quantifiable results with any other method in the past. She seems to be picking up this method so quickly in comparison. We are so incredibly blessed when it comes to the staff working with Maddy. Her teachers, her paras, the special education coordinator, all have worked incredibly for Maddy’s best interests. I was so nervous for her starting kindergarten this year. I’ve heard and read the horror stories of what some parents have to go through in order to get their children services. We are so thankful that Maddy has had nothing but the best in care and education at school this year. The progress she has made has been amazing and we can’t wait to see what the rest of the year brings! 

*update: Maddy has continued to use her PODD book both at school and at home. She recently showed me the picture for bedroom when she wanted to go to bed. She did so completely unprompted. 

Good News!

We received good news the other day. The test results for the secondary genetic test to determine if Maddy had Pitt-Hopkins Syndrome came back. Maddy does not have this disorder. That was a bit of a relief, since this particular diagnosis can come with further health complications.

We were actually all on our way to the Mayo Clinic for another appointment when the call came. Maddy also had an appointment with an allergist. Long story short, the things we are worried about her being allergic to (dairy and gluten) are hard to test for. They basically told us that for a gluten concern we need to see a GI doctor. For the lactose intolerance issue, Maddy would need to blow into a breath device to test for it. That's not likely to happen. Therefore, we are continuing to do what we have been doing regarding Maddy's diet.

Life being what it is, I've been really behind in posting anything here, but am hoping to get back to regular posting soon.

The GeneticTest Results

It's been several weeks since we had the appointment where we discussed the results of Maddy's genetic test. It took me awhile to digest the results. To back up a bit, Maddy had whole exome gene sequencing. Exome sequencing is a technique for sequencing all the protein-coding genes in a genome (known as the exome).1  

Maddy's test revealed two anomalies. The first was on a gene that's been named as POGZ. Maddy has what's called a de novo deletion on this gene. I understand from the geneticist, this means we as parents are not carriers of this and it's a mutation that's new to Maddy. For whatever reason, Maddy's copy of this particular gene didn't transfer right and as such, she is missing one of the proteins that make up the chain of this particular gene. Not a lot is known about this particular gene or what it does. We've actually agreed to participate in a study group on this gene. 

The other potential result is on a gene named NRXN1. Mutations on this gene are associated with something called Pitt-Hopkins Like Syndrome-2. This syndrome often comes with autism as an additional diagnosis. It can sometimes come with health problems such as heart and liver issues. I say potential result because the whole exome sequencing test showed a mutation on one of the gene pair but not the other one. The geneticist told us this could be partially due to the type of test. Maddy only has this syndrome if there is a mutation on each gene of the pair. There is a specific test for this particular syndrome that will tell us for sure. This test will also look at both Dave and my DNA to determine if we are carriers of this, as it is a recessive trait that can only be passed on if both parents posses it.

So, long story short, we still don't know a whole lot. What information we do have is that Maddy does have a single gene mutation on a gene that no one is exactly sure the purpose of.  We also know she might have something called Pitt-Hopkins Like Syndrome-2 but we won't know for sure until another test result is in. Either way, there isn't anything we can do other than what we are already doing. 

I'm sorry if this post is confusing with the medical/scientific jargon. I'm a lawyer. I struggle with the medical stuff a lot. It's difficult for me to understand the terms and how best to describe them to everyone. For now, we'll keep looking and keep trying to understand the information we do have. 

Thanks everyone for all the support you've given our family whether emotional, financial or otherwise. We would not be able to make it on this journey without the help of family and friends. 

Sources:
1. https://en.wikipedia.org/wiki/Exome_sequencing

Work and Maddy Don't Mix

Sometimes it's hard to do my job. It can be a difficult job anyway, but what I mean is that it's hard not to think "why us?"  My job as an attorney means that sometimes I represent parents or children in child protection cases. Sometimes I represent clients in family law cases where parents are fighting over custody. Not to say that these parents aren't good parents. They are most of the time.

For me the hard part is reading reports about the kids in these cases. But not for the reason most people would think. It's hard for me to read these reports because it makes all the more glaringly obvious that Maddy is behind developmentally. It's hard to read reports about a one year old and all the things this baby does that my 5 year old still doesn't do.  It makes me want to cry out, "Why Maddy?"

Most of the time, I don't even think about this. Maddy is who she is and we love her the way she is. But there are times either when I read about other kids, or see other kids in public or at her school that I am so frustrated. Not for myself. I'm frustrated on Maddy's behalf. It's hard to see her struggle with tasks that other kids find so easy.

Communication is the one I struggle with the most. You can just tell that Maddy wants so badly to talk and use words. I can see her struggle to try and make sounds on cue. She simply can't do it right now. We've been working on alternatives, such as signing or pointing to pictures, but neither one of those methods have been super successful at this point.

It's hard not to feel at these moments like we are letting Maddy down in some way. I know that's not rational, but as parents we want to do and be everything for our kids. Kiss the boo-boo better and slay the dragons. It's so hard not to try and compare other kids to Maddy. I can put these thoughts in the back of my mind most of the time, but every now and then, it sneaks in. That being said, Maddy is a bright shiny point of light in our lives. And that, I wouldn't change for anything.

A Letter to My Daughter on her Birthday (belated)

*Note: My daughter's birthday was several months ago. I wrote this then but wasn't ready to share it until now.*

My beautiful daughter,

Today you turn 5. It seems like the time has flown by. It feels like it was just yesterday that your dad and I were on the way to the hospital to meet you. You were born at 4:00 am, all 8 pounds and 8 ounces of you. You were and continue to be the most beautiful thing I have ever seen.

At 6 months old, we began to worry about you. You weren't gaining much weight and you weren't yet holding up your head. We went to a few different doctors who all told us to keep an eye on it and follow up. Then a few months later, we went to more doctors and did some tests. We've continued this pattern on and off with you for five years now. Most of your test results so far have come back as "normal."

My happy, smiling, precious girl, those doctors and test don't know what they are talking about. You are so much more than "normal." You, my darling, are extraordinary. You light up a room when you enter it. Despite the fact that you can't talk, you are able to communicate to everyone what you want or need. You are tenacious and determined. You know exactly what you want and don't give up until you get it. I have not doubt in my mind that you will continue to do amazing things as you get older.

Daddy and I love you more than rainbows! Happy Birthday Maddy!

Autism Awareness Day 2015

Today, April 2nd, has been set as World Autism Awareness Day. It's taken me awhile to come to terms with Maddy's diagnosis of autism. In fact, even after Maddy was diagnosed, I downplayed it. "The psychologist said it's not really autism" was my mantra. Every one has always told us she's not autistic. Her primary care doctors, many of the specialists, her teachers; all have told us they don't think she has autism.

But as I read more and more about autism and how every one's diagnosis looks a little bit differently, I really feel more and more comfortable saying that Maddy has autism. It wasn't really the medical or technical based sites that helped me become more comfortable with this. It's been the stories of other parents and their children on the autism journey.

In particular, it was this post that got me really examining the issue. James's Mom wrote a beautiful post about their journey to an autism diagnosis. James sounds a lot like Maddy in many respects. It also helped to hear another mom had similar thoughts to mine. "My kid doesn't have autism, she makes eye contact." "My kid doesn't have autism, she love snuggling, hugs, and kisses."

But Maddy does do other things that fall within the autism spectrum.  She doesn't really know how to interact with peers. Rather than interacting through play, she tends to either either ignore other kids or she will try and touch them, their stuff, etc until she gets a reaction out of them. Maddy, at almost five, still doesn't talk. Her communication skills are very limited. Maddy has multiple sensory issues that are common in many kids with autism. Maddy also has a tendency to do things repeatedly and will often get upset if a routine is changed.

To read about other autistic kids and how their autism is different from the public perception of what autism looks like, makes it more real for me. It makes autism more understandable and approachable. That's why today on World Autism Awareness day, I'm choosing to share our family's story. I hope that it helps the public understand that not every one's autism diagnosis looks and acts the same. That each child with autism is different and should be looked at individually without the assumptions that many have.

For more information on autism, how you can raise awareness, and the Light it up Blue campaign, please visit Autism Speaks.