About Lucy

Lucy was born three weeks early on July 9, 2009 after my labor was induced due to a leak in her amniotic fluid.  She weighed a healthy 7 lbs, 4 oz and measured 19.5 inches long.  She was perfect; ten fingers, ten toes, and a loud hearty wail to announce her presence in this world.  She even scored 10 on her Apgar tests, something I read didn't usually happen, so that confirmed that our daughter was flawless.

Lucy was the firstborn grandchild on both sides, so naturally she was showered with love and affection.  She had definite preferences, and would get impatient if they were not catered to.  Lucy loved being carried, and oftentimes would not allow herself to be put down without pitching a fit.

At four weeks old, Lucy lifted her head for the first time.  It would be one of two times we saw her raise her own head.  Being first time parents, Noah and I weren't really sure what expectations were reasonable developmentally, but my heart nagged at me that something was not right when Lucy would not lift her head during tummy time anymore, and would only cry and rub her head into the blanket.

I researched online, in books, and pretty much asked everyone she knew if this was normal.  Nowhere in my search did Spinal Muscular Atrophy come up.  'Babies develop at their own pace' was repeated over and over.  As Lucy sat in her bouncy chair and I held her hands up to touch the dangling toys, I wondered when Lucy would be reaching for them on her own.  Being new parents, we didn't know that Lucy's cry was weak, and the diminishing leg movement wasn't even noticed.

At Lucy's two month well-check, her wonderful pediatrician was disturbed by the lack of movement in her legs and her inability to hold her head steady.  She scheduled Lucy in at Children's Hospital in Milwaukee and we left the appointment stunned and shaken.  Never in our wildest nightmares did we think Lucy had something seriously wrong with her.

Tests... more tests... tears... begging and pleading with God... waiting... waiting.  A month later, almost to the day - October 14, 2009.  Lucy was 3 months old, and as I cradled her in my arms in a conference room in one of the campus buildings of Children's Hospital, a geneticist told us that Lucy has Spinal Muscular Atrophy, type 1.  Werdnig-Hoffman's Syndrome.  Fifty percent of babies born with it were dead by their first birthday, and almost all (90%) died before their second.  When I asked if any survived past their second birthday, the geneticist shook her head.

That is a lie.  God was good that day, because he gave me and Noah a genetic counselor with some very useful information about a drug trial going on at the UW Madison Hospital, being run by Dr. Mary Schroth.  We went home and tried to scrape together enough willpower to function, and the next day I called the number given and was told that the trial was full.  Before I could completely collapse, Lisa told me that the doctor would probably want to put Lucy on the drug anyway, and got an appointment set up for Lucy to come see her two weeks later.

The rest is history.  Children's Hospital in Milwaukee - history.  Doctors who have no protocol to sustain a life for Lucy - history.  No options, no empathy, no hope - history.  Dr. Schroth is the best SMA doctor in the world, hands down.  She encompasses every facet that a genuinely gifted doctor could possess.  She has the knowledge, and - just as importantly - the drive to see these kids thrive.

Lucy is an incredibly happy toddler now.  No matter that she can't toddle; we do for her what she can't do for herself.  She is bright and funny and her current loves are reading, singing various kid's songs, Sesame Street, Sesame Street, and Sesame Street - seriously, she is obsessed.  No Disney princess here!  Lucy is also very sassy and stubborn, which is a good and bad thing - she has had her fair share of time outs!

There are some not-so-average parts of her life too, obviously.  Lucy's life includes a lot of machines.  These machines are necessary for her well-being and are taken with us wherever we go - needless to say, we choose our trips carefully!

Cough Assist - otherwise know as an in-exsufflator, this machine uses positive and negative pressure to inflate Lucy's lungs and pull out secretions.  We use the CA daily.  Lucy gets 4 sets of 5 breaths three times throughout her breathing treatments, which happen twice a day when she is healthy, up to every two hours or as needed when sick.  Her settings are 40/40, with an inhale, exhale and pause time each of 1 second.

Suction - a very important machine; we use this round the clock daily to help Lucy deal with her secretions, since she has a hard time swallowing them effectively.  It does just what it's name says - suctions the secretions out of her mouth and the back of her throat.

BiPAP - Lucy uses this machine to help her draw full breaths while she is sleeping, and to help prevent the belling (caving in) of her chest walls due to diaphramic breathing.  Unlike a CPAP,  the BiPAP allows Lucy to have two separate pressures - one while she is breathing in, another while she is breathing out.  The pressure she breathes out against is lower, making it easier for her to breath out with her diminished lung capacity.  On BiPAP, the IPAP (inhale pressure) and EPAP (exhale pressure) need to always be at least 10 numbers apart.  For example, Lucy's current settings are 18 IPAP, 4 EPAP, so the lowest her IPAP could be is 14.  A backup rate must always be set as well, and Lucy's is 30 BPM (breaths per minute).

Pulse Oximeter - a sensor that Lucy wears on her toe to monitor the oxygen level in her blood and her heartrate; this is vital when she is sleeping and when she is ill.

G-tube/Nissen - these aren't so much machines, it's surgery that Lucy has had to help prevent aspiration (fluid going into her lungs).  The gastronomy tube is a tube that's surgically inserted into her stomach, and she gets all of her nutrition and medication through that.  The nissenfundoplication is a surgery where the top of the stomach is wrapped around the bottom of the esophagus to prevent reflux and vomiting, which Lucy could aspirate.  Aspiration is bad, as it almost always results in illness such as pneumonia.  Any illness is bad for a child with SMA.