*God would be glorified.
*People would be drawn to Christ through our daughter and this situation.
*COMPLETE HEALING
-balance in Pinny's body
-seizures would cease
-normal development would continue
*Clarity on how to proceed forward in getting a 2nd opinion.
*Wisdom for the doctors, nurses and all those involved.
May 19, 2010
eternally grateful.
Friends & Family-
We can't even begin to express what your calls, texts, meals and visits have meant to us. Thank you for praying (with fervor, on your knees) and fasting on our behalf. We feel peace (amidst our grieving and questioning) and know it is because of our brothers and sisters who are fighting on our behalf. We need you to continue to fight and we thank you so much!
We can't even begin to express what your calls, texts, meals and visits have meant to us. Thank you for praying (with fervor, on your knees) and fasting on our behalf. We feel peace (amidst our grieving and questioning) and know it is because of our brothers and sisters who are fighting on our behalf. We need you to continue to fight and we thank you so much!
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.
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.
May 17, 2010
May 16, 2010
delivery bed = death bed
It was three weeks ago today when I laid on my hospital bed drugged up with a 3-day old empty stomach. I asked Jer, my mom and my mother-in-law, "Am I on my delivery bed or my death bed?" In hindsight, it was both.
Delivery bed: Lucca Penelope, or "Pinny," was born that night.
Death bed: Death to self, my desires, hopes and dreams for my lil" family.
Delivery bed: Lucca Penelope, or "Pinny," was born that night.
Death bed: Death to self, my desires, hopes and dreams for my lil" family.
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