Thank you so much for all your support & prayers. We could not imagine walking this journey without your love and kindness. Here is a quick update:
Pinny continues to have seizures. Everyday varies- some days she has none, other days three, four, five. She is just precious and our love for her continues to grow more and more each day. My mom has been with us since before Pinny was born. She helps me with feedings, cooking, cleaning, laundry, shopping and in general, has been here to dry our tears.
Pinny is currently diagnosed with having a rare genetic disorder (NKH or glycine encephalopathy) and is being treated aggressively even though this diagnoses has not been verified by genetic testing. We feel this diagnosis is wrong and are fighting hard to prove it. Jer has contacted three top specialist that work with NKH patients and invited them to view her online health record. Two of the three physicians replied saying something like "it is unlikely she has NKH, but not impossible. Are you sure the spinal draw was uncontaminated?" Any drop of blood (even microscopic) in her spinal fluid can throw her amino acid numbers off and show up incorrectly. Yesterday, she had another lumbar puncture to hopefully disprove the diagnoses.
We have an appointment with one of the best pediatric geneticist in Chicago this Wednesday and are scheduled to go to Cleveland Clinic sometime this month for a second opinion. These appointments could not come more quickly. We want answers and we wanted them yesterday!
Below are some prayer requests as many have asked for more specifics. We covet your prayers and fasting on our behalf. Here are a few of the current things on our hearts:
-Speedy acceptance into the Cleveland Clinic
-Heart would not despair
-Strength for each day
-Balancing a demanding job & Pinny's health concerns
-Wisdom in making decisions about future