Our new battle; Ectodermal Dysplasia

Edward brought me this picture tonight and was telling me "Mommy, it's a scary boy!"

Part of me was shocked and almost upset that he had seen the information I had stashed away in a folder, but at the same time I guess it's time for me to face reality. But then again, how do you explain to your amazingly too smart for his own good, 6 year old that the picture he is looking at, and the information on the paper in his hand could very well be his reality?

Unless you are a super close friend or have known me for most of my life, you likely have no idea that I've had major dental issues my entire life, and until recently I was always told that all those problems stemmed from being born with a pneumonia. My entire life I've been told that all of my dental problems stem from my super soft teeth caused by a very high fever and all the antibiotics the doctors gave to me save my life when I was just days old. I'm 36 years old and I've never understood how something that happened to me as a baby could possibly have caused me so many problems as an adult? I've questioned it for years, but was never able to find any answers until we moved to Mississippi, and the kids started seeing a new pediatrician in Hattiesburg. This guy looked at Edward then asked me about my history, and immediately called BS on everything that I've ever been told. He immediately told me that my problems weren't at all caused by the pneumonia, but that he was willing to bet that it was actually a very rare disease; tooth and nail syndrome, and that I needed to look into it. Tooth and Nail Syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT ) syndrome); one of about 180 different forms of Ectodermal Dysplasia.

For the last few months I've been doing a ton of research,and seen multiple doctors, and for the very first time in my life, everything is finally making sense!  All my problems that I've been dealing with for the last 36 years FINALLY have a legitimate reason for happening. My teeth are super soft and crumble if you touch them wrong due to a severe lack of enamel because I have a very rare genetic disease that only about 1,000 other people in the US have, and wasn't even diagnosed until 1981. I was born at the very end of 82, so growing up Ectodermal Dysplasia was basically unheard of outside of the team of doctors who diagnosed the first case. In reality there are probably hundreds more than the current thousand or so other patients with this same disease, but it is so rare that most people go undiagnosed, and untreated.

Unfortunately for my family, the genetic factor is pretty strong, and if one parent has the disease there is a very strong chance that a male child will also have it, meaning that Edward could also have it. Luckily for me, being a girl, the symptoms are a lot more mild than they are for males. It's been a really tough pill for me to swallow knowing that there is a high chance that I unknowingly gave my child a rare disease. I wouldn't wish this nightmare on anyone, especially not my own baby. But this is my reality right now, so we are dealing with it the best way we know how.

A couple of weeks ago I was fortunate to get into one of the few treatment centers in the country to have my diagnosis confirmed. Amazingly enough, everything is working out really well for us timing wise because Chris just got transferred back to Alabama for work, and I will be beginning treatment at the University of Alabama in the next few weeks. Our new house is only about 40 minutes away from the dental school, so I won't have to travel very far at all. I am very lucky because most patients have to spend years traveling across the country for treatment. I am very fortunate to be moving locally. It'll be about 18-24 months for me to complete treatment, and at the moment I have no idea what all my treatment will entail. They've already taken a ton of xrays, and made molds of my mouth. Right now we are just waiting on a phone call to let us know that they've figured out a game plan, and let us know what to do next.

I've been keeping all of this really quiet and not telling anyone except on a need to know basis, and I honestly don't even really know what I'm sharing now except that Edward being scared by a picture of another patient basically rocked my world. I completely hate what I am going thru, and I'm praying that Edward didn't get this awful disease from me. But then again, we are very lucky. Ectodermal Dysplasia may be tough to deal with, but it is not at all fatal, or contagious. We are both completely healthy and able to lead totally normal lives. We just happen to have a few issues that will be costing us thousands of dollars to fix. Things could be so much worse, so we are very fortunate. And at least if Edward is eventually diagnosed with me, at least he's got someone to go thru it with, who completely understands what he is going thru. We have each other, and we have Chris who is the most amazingly loving and supportive husband on the planet. We are going to get thru this as a family. Just like we have with everything else.

I've unknowingly battled this disease my entire life, especially the last 10 or so years. No matter what I've done, I've felt like a complete failure. I can't beat this on my own, and it's been making me completely crazy. Seeing the pictures of other patients is really hard on me because of the way I was raised. Growing up in California, my mom and sisters are so incredibly judgmental that they've always judged every single thing in my life whether it was my weight, grades, looks, hair style, personality, friends, music, literally everything. If you've known me a long time then you know exactly how they are and how snippy and judgmental they are about everything in life including themselves and each other. I've never been good enough and I've always been picked on and put down. It's been really hard for me to see pictures of other patients, and a lot of the time to even look at my own reflection because I can see this disease taking over, and it scares the crap out of me. I am having a hard enough time dealing with this on my own, but now I have my sweet baby boy that is being scared by it as well, and it is so unfair.  So if you see us struggling, or anyone else for that matter. Please make a conscious effort to not stare or comment on people who look differently than you do. No one is better than anyone else, and you have no idea what kind of battle anyone else is fighting. So please make a conscious effort to keep your judgmental stares and comments to yourselves. I can protect my kids from a lot of things, but I can't protect my baby from this. All I can do is ask for some respect and understanding. You have no idea what anyone else is going thru. So please be kind, and keep your judgment and rude comments to yourselves.

If you'd like to know more about what we are going thru, please feel free to ask, or do the research yourselves.

https://www.nfed.org/learn/types/acro-dermato-ungual-lacrimal-tooth-syndrome/

https://rarediseases.org/rare-diseases/tooth-and-nail-syndrome/

Serenity is all set to start school!

Our baby girl is about to turn 3, and is now all registered, tested, and ready to start school on her birthday! She will be going two mornings a week; Monday and Friday, and sharing teachers with Edward.  (Edward goes to Kindergarten in the mornings, and then switches to Pre-K at lunch time.  I will be picking Serenity up at the time Edward switches classes, so they won't actually be in class together except for special events.)  Last Friday, Chris and I took Serenity in for Pre-K testing, and today we got to go back for our first IEP meeting (for Serenity). Both of our kids now have an IEP (Individualized Educational Plan, which are similar, yet different.

The one big difference with Serenity's IEP meeting, verses Edwards, was that the school district special ed department lady wasn't at today's meeting. She was there with us last week, but she's been at each meeting for Edward. Serenity is only starting preschool though, so it's not like she's going into the full blown school system.  An IEP will normally last for 1-5 years, but Serenity's is only designated to last for 3 months because she is starting school about 3/4 of the way thru.


I pulled this image from Google, but this is what an IEP team looks like.

I may post Edward's IEP at a later date, but for right now, here is Serenity's.

As a a team, Chris and I discussed each of these pages with the team of teachers and specialists from the school.  We added a couple things to Serenity's plan, but otherwise, this is what her IEP looks like.  It details the things she is interested in and good at, her testing scores, strengths, weaknesses, and what help she will need to catch up to where she needs to be. 

It was pretty interesting going over Serenity's testing scores today.  She actually scored a lot higher than I expected her to.  I've always known that Serenity is smart, but I guess I've never given her credit for how much she really knows and understands.  I was pretty surprised and proud of her.  She likes to be like Edward, and do everything he does, so I guess it isn't too surprising that she scored so well.  Both of our kids are similar, yet they both land at different places on the Autism Spectrum, and a lot of the time it can be kind of confusing to determine just where each of them lands in comprehension of different things.  They are best friends, and do everything together, so a lot of the time, I guess I've just assumed that Serenity is just following Edward's lead, but never really knew what exactly was going on. 

The one thing that I did realize today, was just how far Serenity has come in the last year.  She's gone from not talking at all, to never stopping and driving me completely crazy!  We can still only understand about 50% of what she says, but she is doing incredibly well!  I think she is also ahead of Edward as far as hand eye coordination goes.  Edward isn't as coordinated at a lot of things, the way that Serenity is.  Serenity definitely scored higher in those areas than Edward did, but then again, I'm sure the testing is different for Edward's age group than it was for Serenity.  Serenity actually doesn't need occupational therapy the way that Edward does.  I don't know if it's because she's doing so well in the therapy that she is currently getting, or if she's just ahead of the game, but Edward is definitely more delayed in that area.

I think this IEP is pretty self explanatory, so if you have any questions or concerns, please feel free to leave me a comment, or send me a message and I'll be happy to address it right away.

Family Updates And Report Card Time

It's been a long time since I last posted.  We had a really great holiday season.  The kids were super excited for Christmas, and for the very first time, weren't afraid of Santa!  The city we moved to over the summer, brings Santa through town on a fire engine the Sunday before Christmas.  I was super excited to find out about it, and couldn't wait to take the kids outside to see him.  I was a little bit nervous because my kids have been afraid of Santa for years.  The only time we've had a positive Santa experience, was when Edward was 5 months old, and Chris and I took him to get pictures with Santa. That was the only time we haven't been faced with kicking and screaming.  Last year, we avoided Santa altogether, because we knew it wouldn't go over very well.  But this year, was a complete game changer! With Santa coming to our turf, things went super smooth.  The kids were super excited, and watching out the window with their shoes and jackets on, while I was watching online, waiting for Facebook updates from our city mayor, about where Santa was, and what neighborhood he would be hitting next.  When I saw the post that our neighborhood was next, the kids were already trying to get the door open to run outside. Edward took off toward the fire engine as it was coming down the street, and climbed right up to see Santa as soon as it stopped in front of him. Serenity was a little bit nervous, but once I assured her that everything was ok, and lifted her up to join Edward next to Santa, she was thrilled to be standing on a fire engine. I got some cute pictures, and the kids had a great time! We are hoping that next year will be just as great.

We've learned a huge lesson in the Autism life lately.  Shortly after Edward started school, I canceled all of Serenity's therapy appointments with the new therapy center that the kids had started going to, because they just weren't making much progress, and the therapists that the kids were seeing just weren't connecting with my kids, the kids weren't happy, and it was beginning to be a HUGE hassle to go there.  Plus, I swear the speech therapist had it out for me. Every single time she saw one of my kids, she had a problem with them that she would bring to my attention.  Whether it was Serenity having muscle tone issues, or Edward having something else, I was getting seriously annoyed.  Never once, in the entire time that I've been a mother, nor in the year or two that I had been taking the kids to get therapy, had I ever been bothered with any sort of problems, much less things that were so quickly dismissed by both Chris and I, as well as our pediatrician, as non issues.  I finally asked the doctor to call the therapy center and basically tell the lady to shove it and do her job, because I was so annoyed with her idiocy. A couple weeks later I was told by Serenity's ENT that I needed to call the state Early Invention office to get help for Serenity, so I did that, and she's been getting all of her therapies thru them, and the therapists come to us!  I never have to leave the house for therapy, and it's been so much easier. Serenity is responding a lot better than she was, and making a ton of progress. She gets both Speech and Occupational therapy, in home, twice a month.  Speech for 30 minutes, and occupational therapy for an hour.  It has made a world of difference having the therapists come to us.  Serenity is always super excited to see them, and opens up really well.  Before, when we were going out to the therapy office, some days were better than others, but a lot of the time Serenity would take 90% of each session to finally start to open up and participate.  But now that her therapists come to us, she is definitely more comfortable and excited to participate.  She actually starts to get upset when her time is up, and the therapist needs to leave to go to their next appointment. It's such a huge improvement from before, and it's been great to watch!

Getting Serenity's therapy thru Early Intervention is about to come to an end for us in the next few weeks.  The state only provides the services to children under 3 years old, but they work with the local school district to integrate the kids into the school system.  Next week, Serenity goes in to do all the testing for her to start Pre-K, as soon as she turns 3 next month.  We are excited because she'll be sharing Edward's Pre-K teacher, who we absolutely LOVE.  Edward still goes to Kindergarten in the mornings, and then switches to Pre-K after lunch.  Serenity will be going to Pre-K in the morning, but then I'll be picking her up at lunch time when Edward switches over.  The only time they will be together in Pre-K will be for special events.  Having them both in school every morning will definitely make my life a little bit easier.  I am looking forward to going back to bed for a couple hours.  I may eventually get myself a gym membership, and attempt to go exercise while they're both gone, but I'm not sure.  I'm kind of lazy.

Edward's report cards came home the last few days.  Yesterday was officially report card day, but because he's got several teachers, and an IEP, we've been getting reports sent home all week.  Edward is doing really well in school.  He's definitely not at all the same kid that he was when he started school back in August.  He has grown and changed so much, and it has been such a privilege and blessing to watch.  He is learning to read, write and spell, count, etc. Lately, Edward has been asking how to spell different thing that he wants to do on his tablet.  There are so many different apps on there, that it gets tedious having to scroll thru the endless list to find what you want.  I recently taught Edward how to hit the search button, and he now types in what he wants.  He knows how to spell Mario, Everleigh & Cole (he LOVES watching the Labrandt family and Everleigh opens toys on YouTube), Ryan (Ryan's world also on YouTube), Bounce Patrol, and a few others.  It is so exciting to watch Edward learning to spell.  We are so proud of him! Every day he is asking us how to spell different things.  As I sit here typing, Edward just asked me how to spell YouTube. He doesn't quite realize that he doesn't have access to YouTube on his tablet.  He only has access to select videos that both the Amazon Freetime department have pre-approved for him to view. Having the tablets for the kids has made a huge difference in our lives.  There are so many educational apps available to them, and it has really helped both our kids.  I'll do blog about the Amazon Fire Tablets that we got our kids at a later time.

Here are Edward's report cards that we've received this week.  He's definitely made some really great strides over the last 9 week, and we are so proud of him, and excited to see how well he does in the next 9 weeks.