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

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.

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.

Testing Results Part 1

It's been a long time since I've written. We've gotten a lot of Maddy's test results back from the Mayo Clinic. It's taken us a bit to process some of them. We got so many results at one time. Not to mention that life has been crazy in general lately. Basically, there are two main issues that came up out of everything. I'm going to break this up into two different posts, as there is so much information.

The most important result (at least to me) came out of the sleep study. The sleep study was a crazy experience to be sure. For those that have never done one, it is not pleasant by any means. The technicians literally glue 13 plus electrodes to your head. In Maddy's case, I had to hold her down in a chair so the tech could use industrial strength stinky glue to put these little metal electrodes on her head. I'm sure it hurt to have those things stuck down. With Maddy not being able to talk, it was that much worse, as she can't tell me if it hurts or if she was scared or confused. I thought for sure she would never sleep connected to all those wires, but when it was all said and done, she was so worn out from the whole ordeal that she was able to fall asleep.

When we got the results a day later, we found out Maddy has sleep apnea. She has both central apnea and obstructive apnea. My understanding from the doctor's explanation is than central apnea is the brain simply forgetting to tell the body to breath. Maddy had a few episodes of this type of apnea throughout the night. These episodes lasted only seconds and it is thought that she will eventually grow out of them all together.

Maddy also has obstructive apnea. This means that something is obstructing her breathing. She had an average of one obstructive apnea an hour. I didn't need the doctor to tell me that was a crazy number. The doctor noted that most of the time this occurs because either the adenoids and/or tonsils are enlarged and blocking the airway. He asked if we had ever had a MRI done. We told him Maddy had gotten one approximately 2 or so years ago and that it should be in her file. The doctor pulled up Maddy's MRI right there in the office. He told us he thought that her adenoids looked big already then. Yikes!

Long story short, the sleep doctor told us that we had to follow up with an Ear, Nose and Throat specialist. He also told us that he would recommend that Maddy have both her adenoids and tonsils removed and if the ENT didn't agree, he suggested we get a second opinion.

The results of the sleep study really made me feel vindicated. I've felt for years that her sleep was not normal. It took me that long to convince a doctor of that fact. Every time I told a doctor that I didn't think she slept good, that she wakes up a lot at night, that she's had ongoing issues since she turned 14 months, etc.; I would get brushed off. "She's just going through a faze, she'll grow out of it," were the phrases I most often got told. But here was proof in black and white that a mother's intuition is always right.

Hopefully, the ENT visit will finally address the problem. I know that the sleep issue isn't a diagnosis. It's not a cure all for everything that's going on with Maddy. However, we have seen Maddy make much faster development milestones when she's been getting good sleep. The possibility of her actually getting good sleep nearly every night has me wondering how much that can help improver her life, both at home and at school.

Testing....1,2,3

We have begun another round of various testing for Maddy at the Mayo Clinic in Rochester. We've already had few appointments for various consults. So far we've learned not a whole lot. The tests with the most potential to yield some answers are still coming up.

We are scheduled for a neuropsychology appointment next week. I'm not entirely sure what all to expect with this one. I was told it can go all day or it could only take half a day. I do know it will involve several cognitive type tests as well as ADOS (an autism diagnostic tool).

We are also scheduled for a consultation to discuss doing gene mapping of some kind. At this point, all of Maddy's test have been normal. Gene Mapping may provide an answer, it may not. In fact, the geneticist told us that the chances of such testing turning up anything is most likely around 20%. Not very high hopes. He did however, state that if we are thinking about more children, it could tell us whether Dave and I are likely to pass something similar (if it is a genetic issue) onto another child.

I have a lot of mixed feelings about this topic. On the one hand, I do want another child. On the other hand, it is a little scary with not knowing Maddy's future. I can't say with any certainty that she will become "normal" (whatever that means.) I can't say with any certainty that Maddy will one day be able to live independently. I know that that's a long way off. Maddy is only four and there is a long time before that will be something that needs addressing. But all of those decisions come into play when thinking about another child. It's not a decision I'm ready to make right now. I went back and forth on whether or not I wanted to share thoughts on this topic. But I feel its a topic that doesn't get addressed very often, and because it is such a very personal decision for a family to make. I mostly wanted to share these feelings to let others know that it is okay to feel that way. It's okay to not know the answer and it's okay go back and forth on what the answer should or could be.

I will be keeping everyone updated as the testing goes. I am hopeful that maybe we might know something (anything) very soon.

Leaps and Bounds

Maddy at her birthday last year.

As Maddy's 4th birthday approaches in less than a week, I've been thinking about where Maddy was at development-wise last year. Even in the last few weeks, Maddy has seemed to advance leaps and bounds from where she was.

She has been interacting more and more with other children. Prior to this, Maddy has preferred to play on her own. It had me thinking that she might be on the Autistic Spectrum (even though dr.'s told me she wasn't). Lately however, she's been trying to hold hands with every kid she comes across. (Super cute!) She's also been actually trying to play with her cousins. Makes me teary-eyed just thinking about it. 

Maddy's play has been going well in other areas as well. She's started to become interested in dress-up (for short periods of time). She's also been playing with more and more toys as they are intended. The other night, she put the Little People horse in its barn and was playing with the doors that make the horse sounds. She did the same with the cow. (Another tear-filled moment for me on that one.) 

Maddy still has a long ways to go with many things. Talking and/or communicating using signs is still an issue. Feeding herself is still a challenge (with utensils). Sleeping at night is always a struggle. But more and more, it feels like the advancements she is making come faster. I am still hopeful Maddy can overcome many of these challenges. She is only just turning 4 after all. I am also just as certain that Maddy does have a specific disorder or syndrome, we just don't know what it is yet. 

Maddy's Story

I have a beautiful little girl. Her name is Maddy. She is 3 and a half years old. The time has flown by. It seems like only yesterday we were just bringing her home from the hospital.

She was an angel of a baby, good natured and happy most of the time. She slept through the night at 2 months old. What a miracle.

But by 6 months, things were starting to seem not right. She couldn't quite hold her head up yet. She wasn't able to roll over. She was born an 8 lb baby, but now seemed rather small compared to other 6 month olds. At her 6 month checkup, the doctor confirmed what my mother's intuition had been saying in the back of my mind. Something is not quite right here. Of, course, I had ignored that voice as much as possible. Our family doctor had us go see a pediatrician.

We went to the pediatrician. He sent us to a developmental specialist. And so it began. Over the course of the next several years, we've had tests after test. Maddy has had blood work, MRI's. ABR's, muscle tests, and nerve tests. We've taken Maddy to Gillette Children's as well as the Mayo Clinic. Everything has come back normal so far.

Global Developmental Delay is what they are calling it for now. For those of you that don't know, that simply means "We're not sure what's going on with her." What it means for us is that Maddy has consistently been behind with every milestone in a child's life thus far. She didn't crawl until almost a year. She didn't walk until almost 2 years. She at the age of 3, uses 5 to 7 words consistently. Along with the delays, Maddy has only slept through the night half a dozen times since she turned about a year old.

She gets help from the school in the form of ECE classes, occupational and speech therapy. We have taken her to private OT and speech as well.

While we still don't know if Maddy has a particular disorder or syndrome, she clearly isn't "a typical" child. I am starting this blog because I wanted to share our struggles to get Maddy a diagnosis. Maybe sharing Maddy's story will help us find a diagnosis. Maybe it will help other parents facing similar challenges. Maybe it will help me cope through sharing. Whatever the case may be, I feel Maddy's story must be shared.