Special Needs Spotlight: Isabel

Isabel was born in 2005 and appeared to be a healthy baby girl. She was our first child. She was diagnosed at 4 months old with a genetic neuromuscular disease called Spinal Muscular Atrophy (SMA). SMA is the number one genetic killer of children under two. 90% of babies with type 1 SMA (the most severe form) die before they are 2 years old. Isabel has type 1 and we are so blessed to still have her with us today. She will turn 6 this year! SMA causes progressive muscle weakness in all voluntary muscles. Isabel could only briefly hold her head up on her own and was never able to sit, roll over, kick her legs, or lift her arms above her head. SMA also affects the muscles needed for swallowing and breathing. We are so lucky to have Isabel in our lives! She has an amazing spirit and even though she has been through so much I know she truly enjoys life and is happy.

Erin:  I’m actually trying to remember when I first realized Isabel would have special needs. When she was diagnosed, we learned that she had a terminal disease and would probably die within the next year. We didn’t even consider what special needs she might have because obviously we were just in pain and shock at being told her prognosis was terminal. Her dad and I both had an extremely hard time after her diagnosis, I literally cried myself to sleep every single night for weeks. She had her trach surgery at 6 months old, and we were able to take her home after being in the PICU for 6 weeks. That’s probably the first time I realized she was going to be a special needs child. It was almost like being a new mom all over again. I had to learn how to take care of her with all of her equipment (feeding pump, suction machine, ventilator, pulse oximeter, cough assist machine, and chest percussor) and finds ways to keep her entertained as she couldn’t play with toys like a typical baby because of her muscle weakness. This might sound weird, but I’m actually grateful that Isabel has special needs because it means we still have her in our lives. As she gets older it’s both easier and harder to deal with her special needs. It’s easier because we’ve had 5 years to get used to the changes and it really just feels normal to us now. But it’s also harder to see a 5 year old not be able to do anything independently than it was with a baby or toddler.  A one year old is perfectly happy being with mom and dad all day and needing help to play. A 5 year old wants to be able to color a picture by herself or go out and play with friends or go to school without needing her mom to be there every second.

Erin:  I can’t think of many ways SMA does not affect our daily lives. Instead of waking up in the morning and making Isabel breakfast, we do her breathing treatment and start her tube feedings. She doesn’t go to school because of the risk of illness, so she has teachers and therapists come to our house. She could have up to 10 in home appointments every week. There are several machines that Isabel cannot live without and that have to go everywhere she goes.  Every time we get ready to take her out we have to make sure we have all the equipment she needs and enough battery power to last until we get home.  Her brain is not affected by SMA so keeping her entertained and stimulated is important. We spend a lot of time during the day helping her do activities. She loves to play board games with her sister, color pictures, play games on her IPAD (her favorite!), do arts and crafts, and play with toys. All of those activities we do hand over hand, meaning we hold Isabel’s arms or hands and move them so she can use her hands to play instead of just watching us play for her. She has a very limited number of things she can do completely independently. She has some specially adapted toys that she can use with an adaptive switch, and of course she loves to watch movies. She also has a communication computer that she is learning to use with her switch.

Erin:  The biggest worry I’ve had recently is that Isabel has very little communication. She is completely nonverbal due to her lack of facial muscles and her trach. She cannot move her hands enough to do signs or use a typical communication device. She does communicate with her eyes and eyebrows, basically closing her eyes and scrunching up her eyebrows if she is unhappy or doesn’t like something. She can move one side of mouth into a little smile or to give kisses and she can give us a thumbs up for yes. I worry that she can’t tell us when she’s hurt or unhappy. She can’t tell us her worries or ask us questions or tell us what she wants. Of course I also worry that people will underestimate her or treat her badly because of her physical limitations. She hears every time someone asks “what’s wrong with her?” or “is she sick?” and I worry about how those questions affect her and make her feel about herself.

Erin:  The funniest moment I can think of happened at a special event we were invited to. Our whole family was able to go meet some exotic animals thanks to an organization that arranges outings for children with special needs and their families. We saw a few different animals like a sloth, porcupine, and armadillo and then they brought out the otters! The otters LOVED Isabel. They started out sniffing her toes and standing up with their paws on her feet. Then they figured out how to climb up on her wheelchair and eventually Isabel had 3 otters running around on top of her. One of them even gave her a little kiss on her cheek. It was just so crazy to see those animals climbing all over her and she loved every minute of it!

Erin:  I don’t want people to be afraid to talk to Isabel or ask us questions about her, but I also wish some of the people who do ask questions would ask them in a more respectful way. I hate the question “what’s wrong with her?”. There is nothing wrong with her. She is exactly the way she’s supposed to be.  I don’t mind when people ask why she can’t move or why she needs the ventilator, we are happy to explain what SMA is and how it affects Isabel. I love it when people speak to Isabel like they would speak to any other child because inside she is just like any other child.

Erin:  The biggest lesson I’ve learned from being Isabel’s mom Is just to enjoy every minute. We never know when our time with her will end and we have really learned to appreciate the everyday moments that we get to spend together as a family. Isabel has taught us so much in her 5 years and we are so grateful to have her in our lives.

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