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<div><br />Nathanael was born on November 8, 2021 to Lucas and Faith Jablonski at 1:11 pm, after a very uncertain pregnancy and a significant number of consultations and appointments with a huge team of doctors at Boston Children’s Hospital. At Faith’s anatomy scan, Lucas and Faith were told that Nathanael had a heart defect called truncus arteriosis, a large cleft lip and palate, and two different brain defects: hydrocephalus and holoprozencephaly. After a more in-depth dig consisting of an hour long fetal MRI, heart echo and ultrasound at Children’s, both the truncus arteriosis and cleft lip and palate were confirmed; but the brain results were left inconclusive since Nathanael’s brain had similarities to both hydrocephalus and holoprozencephaly but there were some anatomical differences that didn’t fit totally in line with either. These differences were significant enough that all of the doctors were uncertain that Nathanael would make it to term, and because of the arrhythmia in his heart, they were even more uncertain if he could make it through labor and delivery.<br /><br /><img src="https://d2g8igdw686xgo.cloudfront.net/61173621_1636660173172828_r.jpeg" alt="61173621_1636660173172828_r.jpeg" width="100%" media_type="3" />
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<div>Faith and Lucas have four older children ages five and under: Mathias, Livia, Blaise and Thea. Their oldest child, Mathias, has a rare genetic disorder called Smith Lemli Opitz Syndrome. During Faith’s pregnancy, the genetics team operated under the assumption that Nathanael had a more severe case of Smith Lemli Opitz Syndrome. All of the abnormalities are consistent with Smith Lemli Opitz, including the cleft lip and palate, brain anomalies, truncus arteriosis, several other physical differences and preliminary findings about his endocrine system. However, after initial testing of the DHCR7 gene, it was discovered that he likely did not have SLOS. It took nearly two months, but it was discovered that Nathanael has CHARGE syndrome, which is caused by a random mutation in him alone - it had nothing to do with the family genetics history.
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<div>Nathanael underwent his first surgery at less than 48 hours old to repair his heart. The first 24-48 hours after heart surgery are always critical but it is especially critical when operating on a newborn with so many complications.
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<div>He had a rough night and precarious morning but the head cardiologist thinks heading into close to 24 hours post-op that he is turning a corner into a long road to recovery.
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<div>Cardiology told the Jablonski family that Nathanael would be in the Cardiac Intensive Care Unit (CICU) for a minimum of 2-3 weeks if everything went perfectly smoothly before heading to a lower level cardiac floor. At the time of surgery Nathanael had to switch rooms in the CICU because he needed he a full-time one on one nurse.<br /><br />After two weeks, Nathanael was moved out of the CICU to the cardiac inpatient units The doctors told Lucas and Faith to expect that Nathanael will spend at least 2 months recovering from this surgery before any other surgeries can be scheduled or planned (like his g-tube surgery, cleft lip and palate surgeries, etc).
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<div>Lucas and Faith live 40 minutes from the hospital and will be spending time driving back and forth, alternating sleeping at the hospital, paying for parking and eating at the hospital in addition to normal living expenses while Nathanael is in the hospital, along with medical expenses. Anything you can contribute to help ease their financial burden is really appreciated during this time.
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Anonymous

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Nathanael Jablonski

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Nathanael Jablonski

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