Hi there! I'm Lindsey. My husband Zach and I are the parents to three beautiful girls: Grace (5), Sophia (soon to be 4), and Charlotte (6 months). We're from Minot, North Dakota. Zach is a business banker and I am a first grade teacher. Zach loves everything sports related and I love everything shopping related, but we both love spending time with our three little ladies. Sophia is the happiest kid and to say that her smile is infectious, is an understatement. She loves her sisters, cheese, being outside, and having dance parties with her dad and big sis. Sophia was diagnosed with Angelman syndrome a little over a month ago. People with Angelman syndrome are referred to as angels, and we think it’s a pretty fitting title for our girl.
Miggy: Hi Lindsey! Thank you so much for sharing your story and your sweet Sophia with us today. Lets start at the beginning... while I know Sophia is 4 and just got diagnosed with Angelman syndrome when did you first start to noticed red flags and what were those red flags? How long has it taken you to actually get a diagnosis and what was that process like?
Lindsey: My first major gut feeling that something wasn’t right came when Sophia was 7 months old. I noticed that she didn’t coo like a baby her age should. In fact, she really didn’t make many noises at all. She also wouldn’t bear weight on her legs. If I tried to hold her up her legs would go limp. I brought it up to her pediatrician and he said that it would come and that she just needed more time. Two weeks after my visit with her doctor, Sophia finally started to bear weight on her legs. I remember feeling so relieved, but I still knew deep down that something was off. Fast forward 4 months and Sophia wasn’t crawling, pulling herself up to sit or stand, and she still wasn’t making any sort of coo. At this point, Google was my best friend, or enemy, depending on how you look at it. I had self diagnosed Sophia with Cerebal Palsy, Autism, low muscle tone, etc. You name it and in my mind, she probably had it. I called her pediatrician in a panic one day and once again, I was told that everything was ok. This time, instead of waiting for things to get better, I did some more googling and found out about our state’s Infant Development program. Sophia was 16 months old when they came and did their first observation of her and they validated my fears. She was behind in so many areas, especially her fine and gross motor skills. We eventually got Sophia enrolled in speech therapy, physical therapy, and occupational therapy. I always hoped that she would catch up, but deep down I knew she wouldn’t.
We met with a geneticist for the first time in February 2014 and after a couple of tests Sophia was officially diagnosed this September as having Angelman Syndrome. It was a huge catch 22.We finally had an answer which was great, but it still hurt.
Miggy: Would you please educate us about Angelman syndrome and explain how Sophia's needs affect your family's day-to-day life?
Lindsey: Angelman syndrome is a rare neuro-genetic disorder that occurs in 1 in 15,000 live births. Angelman syndrome or 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. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.
Sophia depends on us for most of her daily tasks. We dress her, bathe her, brush her teeth, and change her diaper. She recently learned how to drink out of an open cup and use a spoon to eat her food. This has been a huge life changer! Since Sophia is pretty much nonverbal, we have to use her nonverbal cues and gestures to figure out her wants and needs, which can be challenging at times. Her receptive language is much higher, so that’s helpful. She has a very unsteady, uncoordinated gait. If you saw her in public you’d think she is probably just learning to walk, however she started walking when she was 27 months old.
Sophia is a very active girl. When I say that she never stops moving, I mean it. We hear “wow, she’s a handful” a lot! She’s constantly on the go and it can be exhausting trying to keep up with her. We can’t leave her alone for any amount of time because she can’t be trusted. A quiet Sophia is never a good thing ;) Sophia is up once a night almost every night. Sometimes she will stay up for an hour or two at a time. It can be quite exhausting! More than 80% of kids with AS suffer from seizures. Sophia is one of the lucky few that doesn’t. We are so grateful for this!
Miggy: What are the biggest worries you face for Sophia? Conversely, what are your hopes and dreams for Sophia?
Lindsey: I think every parent of a child with special needs worries about their child’s future. Sophia is just like any kid and wants to do exactly what her older sister does. I don’t ever want Sophia to feel incapable or inferior. I worry about peer acceptance a lot as well.
I hope that one day Sophia will be able to talk, even if it’s only a handful of sentences. Right now she can say about 4 words, which is great. I really want to hear her say “I love you, mommy,” one day. That is more of a dream for myself though. I also hope that she is able to live a somewhat independent life one day. Overall, I just want her to be happy and I never want her to feel limited by abilities. The sky is the limit and just because a textbook says she may never be able to button a shirt, doesn’t mean that she won’t be able to do it.
Miggy: How can people best approach or respond to Sophia? Is there something you wish other people knew so as to avoid awkward or hurtful situations?
Lindsey: With a smile and demeanor like Sophia’s it makes her very approachable. If we are out and about I usually hear “I love her smile” at least a handful of times. However, she can get pretty anxious being around new people or in new situations and she doesn’t like if a new face is in her ‘bubble.’ If that happens, you may get a slap or a hair pull. She doesn’t mean anything negative by it, it’s just her way of saying, ‘I’m uncomfortable’.
We haven’t experienced too many negative situations, which is good. We do get stares every so often when we are out in public and I try my best to not let it bother me, but it can be hard sometimes. When she starts to notice these stares, it will be even harder.
Miggy: I know you're still new to the special needs world, but Sophia has been your daughter for 4 years now so in a way, you're not new. That being said, what is the biggest lesson you’ve learned since becoming Sophia's mom?
Lindsey: One of the biggest lessons I've learned is to trust your mom gut. I look back and I wonder where we would be if I hadn’t looked into our Infant Development program.
Another thing I’ve learned is how naive I used to be. Before we had Sophia, I looked at parents of special needs children and felt so sorry for them. I thought their life must be so awful and that their children must be such a burden. I couldn’t have been more wrong. Yes, our every day life is so much different than the life of parents with typical children, but we are so lucky to have Sophia. I do not, in any way, want people to feel sorry for us. Seeing your 27 month old take her first steps is quite miraculous. Seeing your almost 4 year old use the potty chair for the first time is a tear jerker. Hearing your nonverbal child attempt a new word, or the resemblance of a word, is amazing. Other families may just look at these things as something to cross off their child’s list of milestones, but to us, it’s reason to celebrate. When Sophia does something new, our 5 year old is normally one of the first to praise her. When this happens it is proof that Sophia is making our family better and we are so lucky to have. She is teaching us what life is really all about.
If you'd like to learn more about Angelman syndrome, visit http/www.angelman.org/
If you'd like to donate to help find a cure for Angelman syndrome, visit http://cureangelman.net/
Lindsey thank you so much for the wonderful spotlight and for sharing your beautiful family with us. I loved that you came right out and said that you used to think special needs parents had awful lives and their special needs children were burdens. But now you know differently. Boy, can I really relate to those feelings. And pity is the absolute worst sentiment to exude towards special needs families. Pity isn't compassion, it comes from a place of judgement and looks down on others. There is just no place for it. And--once again--I love hearing from a mother to trust your gut. Even after your doctor told you repeatedly everything was fine, you knew otherwise. Until the day I die, I will preach the gospel of motherly intuition... it is more than a feeling, it is knowing. Thanks again Lindsey, your family is gorgeous.
As always guys, if you or someone you know would like to participate please email me at thislittlemiggy at gmail dot com. I know I still have some people to get back to--sometimes it takes a while but I will get back to you. You can always send a little follow up email to help remind me. :)
Have a fun-tastic weekend and HAPPY HALLOWEEN.