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.

Maddy and Sleep: Round 2

Maddy coloring in the waiting room.

 

We went back to the Mayo clinic this past week to do another sleep study. Have I mentioned I really hate sleep studies? Maddy does well for the most part. The real struggle is holding her down while she screams the whole time the tech is gluing the sensors to her head.

Overall, Maddy puts up with it. She has a stuffed Eeyore that she doesn't show huge preference for until she's in a situation such as this. She uses him for comfort in these cases. She never really does that in any other setting. Thank God for Eeyore!

Long story short, we learned two things. First, they retested Maddy's iron levels again. She is still pretty low. The doctor recommended we use a liquid iron supplement, as low iron can cause restlessness during sleep and hyperactivity during the day. That explains a lot. Second, although having her tonsils and adenoids taken out fixed the obstructive apnea, she still has central apnea. Meaning, her brain is not telling her to breath for a few seconds before it kicks back in. She's still having around 20 of these episodes an hour. Yikes!

So, what does that mean for Maddy? The doctor wants her to try a CPAP mask at night. I'm not sure how in the world we will make that happen, but clearly we need to try. I was doing alright with all of this until I Googled CPAP masks for kids. Seeing the options of masks strapped to the heads of little ones is hard. Especially when I start imagining having to strap one to Maddy's head.

In fact, it's hitting me as I'm writing this and I'm crying. I don't know why this particular issue has hit me harder than the others. I think maybe it's because we keep getting more and more symptoms or separate health issues to deal with, but we are no closer to a diagnosis. We still don't know what's causing these underlying conditions, or if there is anything specific causing them all. We just don't know. So far, we haven't had to put Maddy on any permanent medications and/or equipment.  That's clearly going to change now. Perhaps that's why these results are hitting me so hard.

An Open Letter to a Lady at a Recent Community Event

To the older lady at a recent community event,

I know who you are. I've seen you at these events before. I thought you were joking when Maddy ran by you and you said, "Control her!" It never occurred to me that someone would actually say that. I laughed as I ran after her, but when I looked back at you, you were not smiling. It took me a minute to process what that meant, partially because I was busy watching where my daughter went. When I finally realized that you were serious, many mean thoughts went through my head. Part of me wanted to march back over to you and give you a piece of my mind. But I refrained. Partially because I was watching Maddy. Partially because I knew many people at the event and I didn't want to cause a scene. And finally, I didn't yell at you because I realized that by laughing at your comment as I hurried by probably irritated you more than if I had yelled at you.

You may not have much experience with a special needs child, a child who really can't sit still for very long and likes to explore unfamiliar environments. A child who can't communicate in words to anyone what she wants. She didn't hurt you. She didn't come near any of your stuff and she didn't break anything. She only blocked your view of the event for a few seconds as she ran past.

My daughter may look like a typical child, but you don't know our story. You don't know that my daughter doesn't speak. You don't know that I still have to cut my almost five year olds's food into bite size pieces so she can eat. I have no way to know if my daughter's in pain, or if she's bored. It took a long time for her to be able to communicate with us if she was hungry or thirsty or wanted to leave somewhere.

Would you tell me that I need to keep my daughter at home because of any of this? That I shouldn't take her to these types of events because it annoys you?  Maddy isn't a "typical" child, but even if she was, you chose to judge her and me for that matter. Kids should be kids. Kids should be free to run around at such community events. We should want children to explore and run rather than ask them to sit still and be seen and not heard. There are many children who can't do those things due to a disability. We should encourage kids that can do those things to enjoy every bit of life they can grab. Maddy isn't a "typical" child, but even if she was, I would have let her explore the area surrounding the event. Because that is what we should encourage all kids to do, "typical" or not. That is what I will continue to encourage my daughter to do every day.

Maddy's Surgery- A nightmare journey

**Let me preface this post by saying if you are in anyway squeamish, please do not read this post! It's a bit graphic in description. Thank you.**

Hospital Wagon Ride

 

Don't get me wrong from the title of this post. Maddy's actual surgery went well. The post op complications were a different story.  But let me back up. I wrote in an earlier post about Maddy's sleep study results and the need for a follow up consultation with an ear, nose and throat doctor.

We met with a pediatric ENT at the Mayo Clinic where we've been seeing all the other specialists. He quickly determined from all the data and a quick exam that Maddy should have her adenoids removed and possibly her tonsils too. He also wanted to do an endoscopy, which is a camera scope, down her throat to make sure there were not any other obstructions blocking her breathing. We had a chance to do the surgery before the end of the year, but it was only with a week's notice. We decided to get it done as soon as possible.

Other than having to wait around all day because there was an emergency with another patient and starting the surgery much later than scheduled, the surgery went great. The doctor ended up removing both Maddy's adenoids and her tonsils. The scope revealed some interesting things about Maddy's anatomy that may need to be addressed in the future. The ENT did want Maddy to spend the night in the PICU at the hospital partially because of her age and partially because of her disability.

The night in the PICU was mostly uneventful, other than the fact that Maddy did not care to be cooped up in a room and wanted out. The problem with that was the fact that she was hooked up to an IV. In the end, the PICU nurses were of great help as they rounded us up a wagon and made it possible to walk the halls with Maddy being pulled around like a princess. Maddy did remarkably well drinking liquids after the surgery. She ate a little that night. She ate even more for breakfast the next day and kept drinking well. All this meant we got to go home the next day.

Leaving the hospital

 

Maddy continued to do well at home that first day. When the second day at home rolled around, Maddy began throwing up. She could not seem to keep either liquids or solids down. We took her to the doctor that afternoon and she was prescribed something to help with the nausea. Those seemed to help, and by the evening, she was doing well again. I tucked Maddy into bed with me where she was sleeping post surgery. This was partly for comfort for her and partly to facilitate giving her medicine every four hours.

Then, at three in the morning, every parent's worst nightmare happened. Maddy woke up. I gave her another dose of Tylenol, as her previous dose had worn off. She asked for a drink. I gave her one. She took a drink, then began coughing. She coughed a couple of times and then rolled over like she was going back to sleep.

At this point, my mom came into the room. She had come to help out with Maddy post surgery. Mom said, "What's that on the pillow?" I couldn't really tell in the dark and asked Mom to turn on the light. There on the pillow was a bright spot of blood. Panic started to set in a little as I pulled Maddy to sit upright. Mom ran and grabbed me a towel to wipe the blood with. At this point, Maddy kept coughing and more and more blood was pouring out of her mouth.

We woke up Dave (as he was sleeping in another room). He must have been in a deep sleep, as it took him a minute to register what was going on. When he finally figured it out, he started the car. I threw on a coat, grabbed Maddy and jumped in the car. I just held her on my lap in the front seat. I was too panicked to let go of her. (Before I get lots of comments about not properly restraining her, let me just say it's an impossible thing to imagine blood pouring out of your child's mouth with no end in sight. Not to mention that our house is actually only three blocks from the hospital.)

Dave had called the ER ahead, so they were expecting us. When we got in, there was one nurse at the desk. She put us in a room and immediately called for help. Another nurse came in very shortly after that. They both tried to help us mop up the blood. Maddy had a large clot hanging out of her mouth. One of the nurses tried to pull it away, but it did not give. At this point, Dave was starting to panic. One of the nurses pulled him aside and I heard her telling him that if he couldn't be calm, then maybe he should step of the room for a minute so Maddy wouldn't seem him scared. That seemed to snap Dave out of it a little.

The bleeding did seem like it was slowing down, but it hadn't stopped. I totally lost track of time, so I had no idea how long it was from the time she started bleeding to the present. By this time, the doctor on duty came in. The nurses briefed him on the situation and he took a cursory look at Maddy.

I say cursory because He did not look in her mouth. He asked Maddy to open her mouth, but Maddy couldn't or wouldn't do so. She was just crying at this point because she wanted out of the room and out of the hospital. (as a side note, Maddy has never opened her mouth on her own for a doctor.) The doctor refused to look in her mouth by means of a tongue depressor. His reason was "There isn't a surgeon on duty and if her airway collapses, I can't do anything about it."

I was shocked! What did that mean? If my daughter's airway had collapsed on its own would he have done nothing to save her? I'm a lawyer. I get that there are terrible fears of malpractice suits these days. But what happened to the Hippocratic oath? What happened to doing what is medically necessary to save people? Why do we have a hospital with an ER if they can't do anything to help us there?

Luckily for my daughter's sake, the bleeding stopped on its own. By this point, the only thing that the doctor did do is to recommend we take her to a bigger town ER to be seen by an actual ENT to determine whether anything further was needed.  We picked an ER and then waited around for one of those doctors to call back to our ER. While we were waiting, Maddy wanted down. She felt so terrible all she wanted to do was lay on the floor. I couldn't convince her to lay on the bed or to let me hold her. When we finally got the paperwork straightened out, we all got in the car and drove for an hour to the next ER. Maddy managed to sleep a little on the way there.

Maddy got checked out, and thankfully the ENT said Maddy was looking good. There was no sign of a clot and her throat looked nice and clear. I can't tell you what a relief that was. We got some additional advice about medicine and running a humidifier to keep Maddy's throat as moist as possible.

With a quick stop by Menards to buy a new humidifier (our big one had broken a few weeks ago) and we finally went home. We didn't get home until well after 8 in the morning. Maddy took quite awhile to recover after that.

She still didn't want to eat or drink anything. In fact, we had to call her surgeon, who prescribed her a dose of steroids. Those helped immensely. Within two hours of receiving that dose, she was drinking large quantities of water. The next day she was eating.

Maddy did lose a few pounds during this ordeal. She's made up for it in the weeks since by eating us out of house and home. I can't really tell too much if the surgery has improved her sleep or not. She got spoiled by sleeping by me during her recovery and so now we are breaking that habit again. She is back in her own bed, but has been waking up at night. She has been really restless in her sleep, so it's possible that she's either been dreaming or having growing pains. I've been trying to use the essential oils to help alleviate the restlessness as much as possible. We will have to see just how much she improves in sleep before the next sleep study.

Testing Results Part 2

I wrote about the results of Maddy's sleep study in a previous post. The other test that yielded results during Maddy's week at the Mayo Clinic was the neuropsychology tests. This involved several survey and play type tests where a physiologist watched Maddy interact with one parent (in this case Dad) and a trained worker over a video feed.

Most of these tests came up with typical or "normal" results. The one that did not was the ADOS test. In a nutshell, this is the golden standard for diagnosing autism. (click on the link for more info). The test (which is observation based) did show Maddy as being on the low end of the autism spectrum.

At first, this was a surprise to us, as every other doctor we have ever seen has told us Maddy does not have autism. But, after hearing the explanations from the psychologist, it made more sense. She told us that while she really doesn't think Maddy is autistic, she does have some of the characteristics of the disorder.  Some of the score is based on communication. Maddy does not speak, does limited signing and really has a very basic level of communication at this point. That alone almost puts her as being on the spectrum. In addition, Maddy did do some level of "ignoring" and played in her own little world during the test. All of which can also point to autism. What doesn't point to autism in Maddy's case is her ability to make and hold eye contact, her interactions with others and her response to affection both in seeking and giving it.

At this point, I still feel that we don't have a true diagnosis, as both the medical doctor and the psychologist stated they don't feel this is really the only or the final answer. So far, it feels like we have more questions than actual answers to anything. We will keep carrying on to try and find more answers for Maddy.