We have an Angel in our family.

Around the time Ben was 6 months old, we starting noticing that our son was not progressing like other kids his age. By the time he was 1, we knew something was definitely wrong. He wasn't crawling, he wasn't babbling or saying any words, his eyes looked crossed, and just tons of other things were "off." Doug's parents came to visit and told us about an early intervention program here in Utah that can help kids with their development. The program is called DDI Vantage. 

We called up DDI and requested an assessment of our son. They came and confirmed that our son was behind in every developmental area. We began service with them and since that time we've been on a long journey trying to search for answers. 

Working closely with our pediatrician, we saw tons of specialists - neurologists, orthopedic specialists, 3 different ophthalmologists, speech therapists, physical therapists, occupational therapists, etc. We ran every test requested - MRIs, vision tests, hearing tests, blood tests, eye surgery etc. 

Throughout all this testing and throughout all the doctor visits no one could provide us with an answer. We were told to just keep doing what we were doing as we set up appointments for the next specialist. 

For the past year we've fought with our insurance company to cover a genetic test that was first requested by our neurologist and then secondly requested by our pediatrician. We finally won that battle and in December, we took a fresh cheek swab and sent it off to the testing center. 3 months later, we finally have the results of that test. Ben has Angelman syndrome. 

Angelman Syndrome is a neuro-developmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.

Those with the syndrome are generally happy and contented people who like human contact and play. People with AS exhibit a profound desire for personal interaction with others. Communication can be difficult at first, but as a child with AS develops, there is a definite character and ability to make themselves understood. People with AS tend to develop strong non-verbal skills to compensate for their limited use of speech. It is widely accepted that their understanding of communication directed to them is much larger than their ability to return conversation. Most affected people will not develop more than 5–10 words, if any at all.

-www.angelman.org

We received this diagnosis about 1 week ago, so I’ve had 7 days to process a lot of information. To be honest, I don’t think I’ll ever be done processing the information, but 7 days into this, I’m ready to kick some AS butt. Getting this diagnosis means a lot of things: Ben will always require our care, I may or may not ever get to hear my son’s voice, I need to learn a lot more about seizures than I currently know, but most of all - I get to keep my happy, sweet, loving, boy for the rest of his life!

There are seriously so many mixed emotions with all of this information. For the most part, this changes nothing. We will continue to keep Ben in his various therapies, he will go to school, he will continue to be delayed developmentally, etc.

What this does change is the fact that we now have a name for all of his symptoms and are now aware of how better to help him. We have a better sense of what the future holds for us and our family. Of course, only Ben can show us his full potential  but, we can better anticipate the struggles he may face.

What this will never change is how Doug and I feel about Ben. He has always been a blessing straight from heaven. I prayed long ago for God to bless Doug and me with a child. I asked God to send me any child that needed a loving family. I specifically told Him to send me a child with or without disabilities – that I would take the child that others might struggle with. My promise to God was that if He would bless me with a child that I would do everything in my power to make sure that child was loved and cared for and that I would make sure to raise that child to know God.

And wouldn’t you know it? God gave me exactly what I asked for and then some! I have two beautiful and physically-healthy boys. Since day one, Ben has been an absolute joy and blessing in our home. He has filled our home with so much laughter and joy, it’s unbelievable. I know that I need - and have always needed - Ben much more than Ben needs me. I will continue to love him and teach him, just as I promised, and I will continue to thank God for the blessing of my two sweet sons.

One purpose in sharing all of this with you is of course to give you an update and some insight into our lives. A secondary purpose is to raise some awareness. 

Much of the runaround we endured while searching for an answer is simply due to a lack of knowledge and awareness of this disorder. Ben’s symptoms match Angelman Syndrome to a T. He has almost all the markers. It’s unbelievable to think there was this answer out there all along that describes our son so perfectly. If only someone could have fit the pieces together! But because this disorder is so rare and most people don’t encounter Angelman’s on a regular basis there’s not very much information on it in comparison to other disorders and diseases.

If you have a few minutes to spare, watch the following videos about Angelman Syndrome but, make sure to have some kleenex handy because your eyes may get a little sweaty (and by sweaty I mean you may bawl like baby.)

What can YOU do to help?

Visit http://www.angelman.org/ or  http://cureangelman.net/ for more information on this disorder. 

Donate to research for Ben and other AS kids and adults, so that one day we might find a cure. Knowledge is power – the more we learn about AS, the brighter our future may be!

Do you order through Amazon? Use Amazon Smile and choose Foundation for Angelman Syndrome Therapeutics so everytime you shop, a portion of your sales can fund more research. 

Walk with us! Check out www.angelman.org to find a walk close to you. If you can't walk - donate!

Be Kind. It's hard going out in public when you know people notice that your child is different. You don't need to pretend that Ben's syndrome doesn't exist, don't feel like you have to skirt around the topic. The best thing to hear is a compliment at how sweet he is or how beautiful his giant smile is. This really softens the blow when we see another "typical" child running around and screaming with excitement. We would give anything to see Ben running around a restaurant and yelling at people! I pray that one day I will hear his sweet voice. 

Be understanding. There are days we feel alone, defeated, heartbroken and exhausted. We work full-time to be able to cover medical bills and to have health benefits for him. When we're not working, our "free time" is filled with appointments, therapies, medical paperwork, church assignments, etc. Occasionally we squeeze in some much needed family/rest time. 

We may not always have time for friends and we may forget things from time to time. Please don't take it personally.  It doesn't mean we don't love you and aren't thinking about you. We're just trying to take in one day at a time as best we can. 

Our family appreciates all the kind words and support we’ve received over the years and in the past week since we’ve learned about this disorder. We have such a great group of friends and an amazing family. I can’t tell you how much it means to me to be surrounded by so much love.  We love you all!

A child is born: David Hyrum Garding's birth story

My son David Hyrum was born on 11/22/2015 at 12:39am. He weighed 7.7lbs and measured 20 inches.

My due date was 11/25/2015 according to the ultrasound tech’s measurements and 11/29/2015 according to my doctor’s pregnancy wheel/gestation calendar. So depending on which one you ask I was either 3 days early or 7 days early.

The day I went into labor, I was planning on going to my sister, Kristi’s, house 40 minutes away for my niece’s birthday party. When I woke up that morning everything was normal, but early on I felt like something was different. I didn’t think I was in labor, but some part of me was feeling anxious. At one point I was sitting down playing on my computer when I felt a little “squirt,” I would say, of water. I went to the bathroom to see what was going on. It was just a small amount of fluid – no odor or color. I thought it might be my water, so I went back to my computer and searched the internet for answers.

The internet advised me that I should lay down flat for a while. After laying down for a while, if I stood up and felt more water, then that would mean it’s my amniotic fluid. If not, most likely a false alarm. So I did that and no more water trickled out. So I thought – hmm must be a false alarm.

My other sister, Kassi, met me at my house so we could carpool to the birthday together. I told her about what had happened but since the internet didn’t cause me any alarm and I wasn’t experiencing any contractions yet, we didn’t really worry about it.

We loaded up all the kids in the car. Because I was still feeling anxious and since I was so close to my due date, I decided to bring my packed bags with us. I had packed a bag for myself as well as for my son, Ben. My sister and husband thought I was crazy when they saw me loading my bags into the car, and I honestly didn’t think I’d be using them either, but I really don’t like being caught unprepared. Better safe than sorry!

My sister and I started on our trip and about 10 minutes into the drive I started feeling contractions. I didn’t know at the time that they were contractions, but now I do! I just thought I was cramping up a little bit or experiencing some gas. My sister asked me if it felt like my stomach was “tight” and I said yes. After it happened several more times, we both realized that I was having small contractions. I started freaking out. If I was in labor, I wanted to be close to home. Especially since it was Saturday right before Thanksgiving so there was a lot of traffic on the road. I’d never gone into labor naturally before so I had no idea what to expect. I was a bit hysterical during that car ride.

Remember how I said I liked to be prepared? Well the night before, I had downloaded a couple “contraction counter” apps on my phone. I pulled up one of the apps and started timing my contractions. My contractions continued to grow in intensity as we drove and were pretty consistently spaced. They were a bit uncomfortable, but not too bad. The app I was using is programmed in such a way that it calculates the intervals and frequencies of your contractions for you and alerts you when it’s time to get to the hospital. Well, about 10 minutes away from Kristi’s house my app told me “get to the hospital!” I really started to panic when that popped up. My sister was laughing at me, but she was also extremely supportive the entire drive. Even though the app had already told me I was in labor and to get to the hospital I continued to time my contractions once we got to Kristi’s house.

We got to the party in time to see Jetta open some presents and blow out her candles. I’m pretty sure we had missed some of the games. I was sitting in her living room trying to calm myself down and focus on timing my contractions. After about the 4^th or 5^th alert to “go to the hospital,” my sisters told me I should call my OBGYN and see what he thinks.

I called my doctor and explained what was going on. He told me that, especially with this being my 2^nd child and because I was about an hour away, I should go ahead and head to the hospital. He would meet me there.

So after being at my sister’s house for maybe 20 minutes, we got back in the car and headed to the hospital. I called Doug as we drove to let him know I was in labor and was heading to the hospital. He was pretty shocked when I told him.

I got to the hospital, they were expecting me, they observed me for about an hour I was 100% effaced when I got to the hospital and about 3cm dilated. I believe it was about 6:30pm or so at this point. They hooked me up to the belly monitors and got an IV started (still the worst part of labor, in my opinion). They checked me every so often, and every time told me thing were moving right along and I kept dilating more and more. At some point between 3 and 5cm they offered to have the anesthesiologist come in and give me an epidural since he was available and of course, I said yes because I’m not a hippie like you other crazy mommas out there. (haha just kidding! I love you ladies! More power to ya.) Eventually, right around midnight I felt the urge to push. I called the nurses in and sure enough, I was ready to go. They got my bed all cleaned up and prepped and called the doctor in to deliver the baby.

He came in, told me to push. I pushed. The head was out. I pushed 2 more times and his whole body was out. They said I pushed for 39 seconds. No tearing, didn’t even break a sweat. It was amazing! I couldn’t believe it.

After everything was said and done, I learned that David’s head had been so far down on my cervix that they had to work a little bit to break my amniotic sac and when they did, it was just a trickle not a gush. (which is partly why I think I felt the trickle earlier in the day. I think my sac had technically broken already but his head was covering up the hole so it couldn’t come out.) They also told me the cord had been wrapped around his neck and so he had come out pretty blue/purple, but he pinked right back up as soon as they got the cord away.

All in all, the pregnancy itself was a breeze (other than the serious back pain) and the labor went perfectly. Now I have this perfect little boy in my arms every day who coos and smiles and smells so sweet. I don’t know why my children are so much cooler than everyone else’s children, but I mean – they have good genes, so it makes sense I suppose. J

Happy belated day of birth David Doodle!