March 29, 2016

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!

3 comments:

Don Seegmiller said...

Doug and Kendra, we love you and think of you often. The offer to watch the kids is always open should you need a movie and dinner. Small ones just make the floor messy you know.

Debbie Hyde said...

You and Doug are amazing! I love your family even more after reading this, though I have only seen your boys once. Your family is so lucky to have you! May the Lord bless you always as you tend to your families needs. If there is ever anything you need, please know I am here for you.

Anne Hill said...

Kendra he is truly is an angel straight from Heaven! I can't imagine any better parents for him than you and Doug! I pray you get to hear his sweet voice one day too! Love and miss you