Monday, September 16, 2013

What I Know For Sure: Health.

Martha nursed just over 3 weeks when she was ambulanced to the St. Paul NICU with pneumonia. She was diagnosed with a feeding dysfunction and put on a thickened formula. She had an echocardiogram done for a murmur and was diagnosed with a Bicuspid Valve (minor issue). The cardiologist mentioned something to me in passing about a link between a bicuspid valve and something called "Turner's Syndrome," even though Martha had no symptoms of Turner's Syndrome. Doctor Triumph #1: The cardiologist was the FIRST doctor to suggest that Martha's eating dysfunction and heart variation were not in isolation. Smart doctor. 

At 3 months old Martha was hospitalized in St. Paul again. She was choking on her thickened bottles, and was refusing to eat. I asked the attending doctor to run a chromosomal analysis to possibly diagnose Turner's Syndrome, citing the cardiologist's comments. The pediatrician agreed to run the test. Doctor Triumph #2: The attending doctor listened to my concerns and wishes for a chromosomal analysis. She acknowledged that I had four children and had troubling instincts about my daughter. Thank you, Doctor. 

The test took longer than the length of admission, and Martha was discharged weaker and weighing less than she had nearly a month earlier. At this point I knew without a doubt something was wrong. I believed I was taking my daughter home to die. 

Martha's chromosomal analysis came back significant. We saw a geneticist, a genetic counselor, had further tests and further visits to receive Martha's diagnosis of an Unbalanced Translocation 5;8. We were told that Martha would fall into the "moderate" category of symptoms. She was noted to have several facial features consistent with chromosomal abnormalities. 

At five months old Martha was placed with a gastric feeding tube extended into her jejunum. She is currently on a continuous, 24-hour a day feed. She has a pump in a backpack we carry around with her all the time

~Martha has severe eating difficulties and GERD to the point where she is unable to take anything nutritive by mouth. 
~Martha is sick frequently with serious respiratory infections. It takes a cocktail of breathing treatments, steroids and antibiotics to keep her from being admitted to the hospital. She has averaged 2 illnesses a month.
~Martha had a CT scan and MRI of her brain and spine to rule out hydrocephalus. Her head is abnormally large (macrocephaly) with extra fluid. The extra fluid isn't causing problems at this time. 
~Martha has an abnormal brain. I'm not ready to discuss what that means.
~Martha is "impressively" hypotonic (low muscle strength)
~Martha has a Cranio-Cap to correct her misshapen head. She developed plagiocephaly from her crib positioning and low muscle tone.

Pediatric Specialties Currently Following Martha
Physical Medicine 
Plastic Surgery
Neuro Surgery
+Primary Care and Pediatrics

As time goes on, we are hopeful this list will get reduced. We may need more specialties added, but I'm keeping this post to things I know for sure.

Martha is at risk for several disorders. I have been told that she will require close following by multiple physicians until these disorders can be ruled out, which at this point in her infancy, they can't be.

Here is a little peep of my sweetheart just as she's waking up in the morning. Just look at how beautiful she is! Miss Martha Sunshine! My apologies for the quality of this video, the dimensions aren't right. It's Monday morning and I'm tired. I'll work on it and see if I can improve it later.


KK said...

So grateful Martha has you as her Mommy!

Mallory said...

Thank you, Katie. We are blessed to have her.