Meeting Alanis

Last month we took a trip to Wisconsin and met Alanis.  We did other stuff too, which I'll write about eventually, but one of the main reasons we took the trip was to visit this beautiful little girl.

Alanis is the daughter of a good friend of mine and is just 3 months older than Emma.  Yet, Alanis leads a very different life due to a genetic disease that she was diagnosed with as an infant: Type 1 Spinal Muscular Atrophy (SMA). (I've briefly written about her before in a previous post).

Our visit was wonderful.  I was finally able to meet this beautiful little girl as well as get a glimpse of what life is like in a family afflicted by SMA, and better yet, my children got to know her and consider her their friend.

My biggest worry about the trip was that someone (primarily the kids) would be sick, given it is the middle of winter and the time that it seems we can have a new virus come through the home every week.  One of the most deadly things for kids with Type 1 SMA like Alanis is respiratory illness, given she can't cough on her own.  Luckily, however, Emma and I were just getting over colds (hers turned into an ear infection and once she was given antibiotics she was better right away, and mine was deemed a sinus infection and therefore the antibiotics helped me a lot too).  Nonetheless, I still had a lingering cough so I did wear a mask most of the time I was there, but both my kids were able to go mask-free.  We made sure to always wash our hands the moment we arrived at the house and anytime after the kids might have picked or wiped their nose.

The kids took to Alanis quite well.  Evan liked to go hold and touch her hand.  It was very sweet.  Emma asked the most questions about her and her equipment, but was very loving toward her as well.

Holding Alanis' hand...

From all of the photos I'd seen of her, she always had such a fire in her eyes.  A determination to be mentally strong amidst being in a body that was weak.  It was so great to be able to talk to her and see those flames burning brightly, as well as hear her make vocalizations.  She is able to smile, which is also a sight to behold.  It takes so many muscles to smile I was told, so you know she has to work hard at it, but yet she blessed us with her smile on many occasions.

Most kids with Type 1 SMA don't live past the age of two.  Yet, Alanis is strong and has been doing very well lately. She is fragile, so things could certainly change in the blink of an eye, but my friends have really got quite the system down in their home to keep her safe and stable, and yet happy and entertained.  She has two places that she hangs out: her bedroom or in the living room/dining room on a "mobile bed station".  This mobile station is a bed on a wheeled cart that Alanis' dad built to store all of her required medical equipment and provide a place outside of her bed in her bedroom that she could stay during the daytime.  This allows her to feel more part of the family during meal times and evenings hanging out in the living room.  Each time she has to switch sides that she lays on, the cart can be turned around so she is always facing outward toward where everyone is.  She has a tablet on a stand that plays videos and songs for her to keep her entertained as well.  One key thing for her to have a better quality of life as she ages is to be able to sit in a power chair.  In order to be able to do that, she must be able to tolerate sitting at a 45 degree incline.  Right now she does best laying flat.  Too much of an incline and it makes it much harder for her to breath.  Yet, there are ways to train her slowly to tolerate more incline, such as an incline chair positioner (see her in it in the photo below).

All the kids plus the dog! :)

She uses a BiPAP (Bilevel Positive Airway Pressure) mask most of the day to help her breath and give her extra oxygen.  However, she can go without it (laying flat at least) for small segments of time.  She has a pulse oximeter and heart rate monitor on her nearly 24-7.  This is one way that her caretakers can determine if she's feeling okay, including if she's feeling happy or not, given she cannot speak.  If her pulse increases too much, it's a sign she is in need of her BiPAP to help her breath (if she had it off), or she's not happy and needs something (repositioned, a different movie to watch, etc).  She often requires suction to help reduce saliva in her mouth and a fresh cloth under her face to keep her chin dry and rash-free. You know when it's time for suction because her vocalizations will sound gurgly. She is fed through a feeding tube into her stomach.  This is to help prevent her from aspirating food.  She does occasionally get to taste food, but it is only for special occasions because she needs lots of suction afterward to not only suck out the food, but also all of the extra saliva in her mouth produced from the process of tasting food. Based on these aspects to her care alone, she clearly needs round-the-clock care.  Even over night she wakes several times needing someone to reposition her because she cannot roll around herself.

This is just a small glimpse of the life that my dear friend and her family now considers normal.  It's taken quite awhile for them to get into a routine with this new normal, and there are still many challenges, fears, and downright obstacles that they face on a regular basis.  I'm so glad I was able to visit her and learn more about what her every day life is like.  And I cannot wait to visit them again.  Neither can my kids.  They had such a great time and we all just wish we lived closer so we could see each other more often.

After having learned about SMA and Alanis' story, I try to support SMA research in any way I can. Cure SMA is a great charity if you want to support this too.  SMA research is so close to a cure.  Whether they will have a treatment to help Alanis in her advanced stage of the disease is unknown, but young infants recently diagnosed with Type 1 SMA who have received some of the groundbreaking treatments are already showing great promise! Besides research for a cure, Cure SMA supports families with SMA providing them with care packages, support and information, and loans of helpful medical equipment for as long as a family needs to use it.  The incline positioner is one example of such equipment.