May 18, 2010

up til now.

For me, the birthing process was quite eventful, as my OB insisted on inducing 3 weeks early due to the onset of preeclampsia. After a weekend of trying to give birth via natural means, the doctors performed a C-section and we welcomed Lucca Penelope, or 'Pinny',  into the world on Sunday, April 25th, 2010. She weighed 4lbs. 10 oz./ 18.5 inches.

The first few days were how they were supposed to be; Lucca in EVERY WAY seemed to be a normal child. She scored 9 and 9 on her APGAR scores. She ate well, slept well, had good wake time, etc.

Unfortunately, this period of joy quickly turned to great concern. On Friday April 30th, Lucca began having seizures; episodes of repetitive jerking motions that lasted a minute or so. She was admitted to Children's Memorial Hospital for a 3 night stay in the NICU where the doctors performed numerous tests...EEGs, MRIs, spinal fluid tests, blood tests etc. While the doctors said her brain waves appeared slightly immature, they also indicated she seemed normal in EVERY OTHER way. So, we went home hopeful, with one prescription for Phenobarbital.

One day passed, seizure-free. The next few days proved that the Phenobarbital was not working and we were back at Children's Memorial Hospital.

This visit and the news we received there was beyond difficult and heart-breaking. Thursday, May 13th Jeremy, my mom and me were told that the brain waves associated with Lucca’s seizures appeared consistent with 'early myoclonic encephalopathy'. The doctors believe the underlying reason for these seizures is that Lucca’s metabolism appears genetically impaired; that she has neonatal glycine encephalopathy (non-ketotic hyperglycinemia) due to the levels of glycine (an amino acid) in her brain/spine and blood levels. We will need to wait 1-3 months to confirm this via genetic testing. The chances of this are 1:100,000 (to clarify– there are around 4 million babies born in the U.S. each year; this means only 40  babies per year will have this disorder) of two people with the same autosomal recessive genes to conceive and have a child with this defect.

Unfortunately, the prognosis we received for this condition is exceedingly poor, as the elevated glycine levels are toxic, cause seizures, and inhibit brain function/development. We are told the mortality rate is high for babies with neonatal onset; those that survive typically have very severe developmental disabilities. There is no "cure" for this; the treatment road will probably be a wandering process of trial and error. She is currently on 5 medications; some of these have some potentially severe side effects. Unfortunately, there do not appear to be many alternative diagnoses with Lucca’s symptoms (especially the seizure/brain wave patterns) that would offer a more favorable outcome.

We have been home from our second hospital visit for 5 days now and the more Jeremy researches, the more things seem to not add up. Babies with this disorder most often do not fair well FROM birth- floppy bodies, tube feeding, trouble breathing, etc. Lucca has NEVER displayed any signs of these things. Her seizures continue with lesser frequency and duration, so that leaves us baffled.

None of the physicians at Children's Memorial have ever seen a child with this disorder which has us scouring the nation for a second opinion. A wise cousin of mine said, "A rare disease requires rare talent."

We are praying for a miracle while searching for rare talent.


  1. Like EVERY baby born, Pinny's life has a specific purpose and we are glad she is here! We are praying that God directs the hand of the physician's to find an accurate diagnosis. Keep researching, keep questioning and follow your parental gut instincts. Love you.

  2. We're thinking of you guys and praying constantly for grace and healing of your adorable Pinny. Please let us know if we can do anything (meals, research, whatever you think of!) We love you guys so much!

  3. We've been praying and will continue to. That sweet little face keeps coming to my mind and I am absolutely certain God has a beautiful and special plan for her life. Praying for heavenly wisdom and strength and encouragement for each moment as you parent precious Lucca, for God's provision of exactly the right medical advice and physicians and everything else that He knows you are in need of. Sending hugs and prayers across the miles to both of you!
    - Heather for the Staceys

  4. As I pray for you today, I keep hearing this Paul Baloche song running through my head, so I thought I would share it with you...

    "Jesus, in Your Name we pray
    Come and fill our hearts today
    Lord, give us strength to live for You and glorify Your Name

    Your Name is a strong and mighty tower
    Your Name is a shelter like no other
    Your Name, let the nations sing it louder
    'Cause nothing has the power to save but Your Name"

    After reading your post, I also felt as Kathryn did. TRUST your instincts as a parent. As someone whose life has been a medical mystery, it is amazing that the gut feeling I had at 15 has only now been confirmed in my 30s after decades of dr's dismissing the symptom I thought significant. Also, when our little guy was born, he had all sorts of problems, and we learned that if you as the parent aren't satisfied, don't be satisfied. The doctor can never be as observant or invested in your little precious one as you are.

    We love you all. Please let us know if there is any way we can be of additional assistance - ANYTHING. prayers from the Nelson's.

    --Elizabeth (Scott, and your biggest fan, Gabe, too!)