Want to walk for Jack? Join Jack’s team by clicking here. You can also check out http://www.angelman.org/ to find a walk near you. Jack’s walk will be on Saturday, May 20th at West Park in Carmel, Indiana. It is $25 to register for anyone 12+ and free for participants under 12. If you are unable to make it, all donations are greatly appreciated. Donate here.
On June 24th, 2013 we finally became parents following a miscarriage and heartbreak. Our little man was born a few weeks early due to my inconsistent blood pressure but he was healthy and absolutely handsome. He stole our hearts.
Jack spent two days in the NICU due to a high grade fever I had while delivering. He struggled to latch correctly but the hospital staff chalked it up to him being borderline premature. So we worked on it all day… everyday. Finally, the day of discharge we realized he had a poor suck reflex and his body didn’t naturally know how to suck until you hit his uvula in his throat. We fought through it but the first 6 weeks were hell as we tried to teach this tiny human how to eat; something the majority of us are born with the ability to do. To say it was rough was an understatement. It took 45 minutes to an hour for our little guy to take a 2oz bottle and on top of that I was pumping 8 times a day to keep my supply up. By the time he finished a bottle and I pumped, he was awake again. And repeat.
In addition to feeding issues, Jack was diagnosed with kidney issues before he was even born. We were followed by an incredible urologist from Riley Children’s Hospital and we couldn’t be more thankful for Dr. Rink. These issues meant lots of doctor’s appointments for Jack from the beginning. At 3 weeks old he had a scope to check out his kidneys. At 12 weeks, the same scope was repeated. Nothing breaks a new mama’s (post-partum) heart than seeing her baby hooked up to an IV and machines and knowing they’re being put under anesthesia so early. But Jack even rocked the hospital and melted every single nurses’ heart.
Jack’s kidneys were doing great and we were told he wouldn’t need another surgery until he was over 2 years old in order to allow his kidneys and bladder to grow. We monitored his kidneys every 6 months through an ultrasound and did more in-depth scans once a year. At 2 years old he had a ureter and bladder reconstruction surgery to correct the issues. He’s going strong and we can only hope that from here on out we just have to be monitored and that no more surgeries follow.
Jack rolled over both ways by the time he was 4 months old. He was all over the place. He never minded tummy time and he was always happy now that he could eat without any problems! By 6 months he was sitting in a ‘tripod’ sit but he couldn’t support his own weight. We noticed a wandering eye and were also told to monitor it. By 8/9 months, Jack was just starting to sit independently but balance was an issue. He was eating table foods like a pro and loved to eat. His eye was still wandering so we chose to see a pediatric ophthalmologist. At 15 months old he got his first pair of glasses. Although devastated to hear he would need glasses so young, I couldn’t imagine him any other way now.
Somewhere before the glasses we noticed our little guy wasn’t crawling. He didn’t crawl until 14 months old. He didn’t cruise the furniture until 16 months old. He didn’t clap. He didn’t point. He didn’t babble. As a special education teacher, I knew to worry about his development. We saw doctors and were told to wait a little longer. At 18 months old he had an MRI with normal results. Finally, before his second birthday I requested bloodwork for genetic testing. A day after his 2nd birthday we were given a diagnosis. Jack has a deletion of the 15th chromosome which could be one of two disabilities. Based on our research we knew our little guy’s fate but further testing would later confirm he had Angelman Syndrome.
Why am I telling you all of this? Because Monday, February 15th is International Angelman Day. Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care. Angelman Syndrome is most commonly diagnosed between the ages of two and five years olds as developmental delays become more obvious. More Info…
Our hearts were broken. We cried (okay, well, I cried). I screamed. I got mad. Then I went into Mama Bear mode and said I would do whatever it took to help our sweet boy out. When you google Angelman Syndrome you read all sorts of things and most of them are not positive. Doctors tell us all sorts of things like our children will never walk, they’ll never talk, they’ll never live independently, etc. etc. But Jack has already defied the odds. He’s breaking down barrier after barrier and he’s doing it with a smile on his face.
With Jack’s diagnosis he has developmental delays. He can have spastic movements with his hands that look similar to Autism but aren’t the same as they aren’t stimming. He’s almost ALWAYS happy and smiling. Which is not as pleasant as it seems. He can’t tell us he’s sick and even when he’s severely ill, he still smiles or is generally happy. He’s high risk for seizures and is likely to never be able to verbally communicate with us. If we happen to be blessed with verbal communication, his vocab could be limited to 5-10 words total. Angelman children never live independently, are later to potty train and have severe cognitive delays. By some chance, we have avoided some of the ugliest pieces of AS including; lack of sleep, seizures, and inability to eat solids. Some Angelman children can live off of a few (as in less than 4) hours of sleep a night. A night. I can’t imagine how exhausting this is for parents on top of an already exhausting life in general. Roughly 90% of AS children have seizures and most present themselves before the age of 3 and although Jack has not experienced any seizures, that does not mean that we might not have to fight that battle in the future. Jack had feeding issues in the beginning but he was able to overcome those issues and learned to eat solids right on time. He loves food. He will eat anything and gets so excited when he sees food. It took him until he was 2 years old to use a straw but we did it! We’ll continue to encourage and challenge him at every obstacle we meet because we have big expectations for him and we know he can meet those expectations. It’s a good thing he’s got a Special Education Teacher for a mama because I can wait any child out. 😉 This diagnosis means we see doctors. Lots of them. We get therapy. Lots of it. Jack currently goes to Hippotherapy where he gets to ride a horse every week! He receives Occupational Therapy, Developmental Therapy, and Physical Therapy. Somewhere in there we need to add Speech Therapy but there’s a problem and that problem is lack of time and full-time jobs.
And some days I feel completely alone. No, I am not the only one in the world with a child with a disability but some days it feels that way. Especially when all of your family and friends are raising neurotypical children. The actor, Colin Farrell, has a child with Angelman Syndrome and said it best when he said, “When you’re the parent of a child with special needs, it’s important to feel that you’re not alone. The network of community, support, and comradeship that FAST offers the families of children with Angelman Syndrome is profound.”
Our Angelman Family celebrates every milestone together! We laugh with each other and we cry with each other. There are no words to describe how comforting it is to know there is a support system that I can vent to whenever I need to or celebrate with when we (finally) meet those milestones that most people take for granted because they come so easily. Angelman children are often referred to as “Angels” and they work hard for every major milestone in life.
This video was created this year for AS and I watch it weekly. It gives me so much hope for my little man’s future. You won’t regret watching it and I guarantee by the end of it you will be smiling along with these beautiful children or ugly crying your eyes out at how powerful the message is.
I’m not asking for pity. I just want the world to know and understand my handsome guy because how can you NOT smile when you see this face.
So what can YOU do?
Donate to research for Jack and all his other AS friends so one day we can cure Angelman Syndrome:
Do you order through Amazon? Use Amazon Smile and choose Foundation for Angelman Syndrome Therapeutics so every time you shop a portion of your sales can fund more research. (http://smile.amazon.com/)
Walk with us! Check out http://www.angelman.org/ to find a walk close to you. Indiana has a walk on Saturday, May 20th. We will be establishing a team in the next few weeks. Can’t walk? Donate! 🙂
Be kind. It’s hard going out in public and to birthday parties and the mall when you know people notice that your child is different. The best thing to hear is a compliment at how well behaved he is when we’re out or how beautiful his giant smile is. This softens the blow when you see another ‘typical’ two year old running around and screaming words of excitement to everyone around because I would give anything to see my boy running around a restaurant (someday!) and yelling at people. I pray one day I hear his sweet voice and he can use his words to tell me when he’s happy, sad, angry, or excited.
Be understanding.There are days we feel alone, defeated, heartbroken and exhausted. We work full-time to be able to pay Jack’s medical bills and to have health benefits for him. We have part-time businesses on the side. Our lives revolve around work and Jack’s therapy schedule. We may not always have time for friends. Don’t take it personally. We may forget things from time to time. Don’t take it personally.
For more detailed information, check out:
* All information from this post was found at the websites mentioned above.
and I’ll just end with this. Spread the love. 😉