Jaxon Strong was born with microhydranencephaly a form of
microcephaly -- a birth defect that affects the brain and that has recently
made headlines due to links to the Zika virus.
Jaxon's parents run a popular Facebook page where they bring
awareness to Jaxon and his
condition. Amid growing concerns over the link between the Zika virus and microcephaly, Jaxon's father gave reassuring words to families who may be faced with the condition. "Everyone's freaking out saying microcephaly is a death sentence, and it's not. Even if you had to go through it, your child can survive. Your child can live a good-quality life," he told Redbookmag.com.
condition. Amid growing concerns over the link between the Zika virus and microcephaly, Jaxon's father gave reassuring words to families who may be faced with the condition. "Everyone's freaking out saying microcephaly is a death sentence, and it's not. Even if you had to go through it, your child can survive. Your child can live a good-quality life," he told Redbookmag.com.
Jaxon's parents discovered something was wrong with Jaxon at
his 17-week ultrasound. "They warned us we could lose the pregnancy, give
birth to a stillborn child, have all types of complications. They didn't expect
him to make it, and if they did, they seriously doubted his quality of life. We
were absolutely distraught," Brandon said.
Despite doctor's initial concerns, Jaxon is thriving
according to his dad: "He's only getting stronger, and his health is
improving. He's babbling, he loves to laugh, he loves to snuggle. He has an
amazing personality. He'll look into our eyes and start smiling,
giggling."
Although Jaxon has significant struggles, his parents say
they see growth every day. He recently started using a pacifier -- a sign that
he may no longer need his feeding tube.
https://www.aol.com/article/2016/03/15/parents-of-miracle-baby-with-microcephaly-speak-out-amid-zika/21328031/
Video at link
See also: https://www.jaxonstrong.com/education
https://www.facebook.com/WeAreJaxonStrong/?fref=ts
Microhydranencephaly is a developmental abnormality that
affects the brain. Signs and symptoms may include extreme microcephaly, scalp
rugae (a series of ridges), profound developmental delay and severe
intellectual disability. Imaging studies of the brain generally reveal
incomplete brain formation and severe hydrocephalus (accumulation of fluid in
the brain). In most cases, the underlying cause is unknown. Rarely, the
condition is caused by changes (mutations) in the NDE1 gene and is inherited in
an autosomal recessive manner. Treatment is based on the signs and symptoms
present in each person
https://rarediseases.info.nih.gov/diseases/10216/microhydranencephaly
See: https://www.youtube.com/watch?v=wu47BpI4ld8
See: https://www.youtube.com/watch?v=wu47BpI4ld8
Doobin DJ, Kemal S, Dantas TJ, Vallee RB. Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages. Nat Commun. 2016 Aug 24;7:12551.
ReplyDeleteAbstract
Microcephaly is a cortical malformation disorder characterized by an abnormally small brain. Recent studies have revealed severe cases of microcephaly resulting from human mutations in the NDE1 gene, which is involved in the regulation of cytoplasmic dynein. Here using in utero electroporation of NDE1 short hairpin RNA (shRNA) in embryonic rat brains, we observe cell cycle arrest of proliferating neural progenitors at three distinct stages: during apical interkinetic nuclear migration, at the G2-to-M transition and in regulation of primary cilia at the G1-to-S transition. RNAi against the NDE1 paralogue NDEL1 has no such effects. However, NDEL1 overexpression can functionally compensate for NDE1, except at the G2-to-M transition, revealing a unique NDE1 role. In contrast, NDE1 and NDEL1 RNAi have comparable effects on postmitotic neuronal migration. These results reveal that the severity of NDE1-associated microcephaly results not from defects in mitosis, but rather the inability of neural progenitors to ever reach this stage.
https://www.youtube.com/watch?v=hfh_syLeozs
ReplyDelete