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.
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.
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.
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!