in a previous post we asked you to pray for a little baby girl in our life with health concerns. it's my little niece, Peyton, who is one of the twins born to my sister in early March. Her brother, Jace, is doing great and packing on the pounds like a Nicholson can only do. Peyton has been eating well and gaining weight as well, but a few weeks ago my sister began to have a few developmental concerns with Peyton. Long story short, she was wondering if it would be Cerebral Palsy or some other neurological disorder. An MRI and several doctor's appointments later they discovered that it is Joubert Syndrome. The website does a better job of describing exactly what it is, so i'll step aside and quote directly from the FAQ page...What is Joubert Syndrome?
Joubert Syndrome is a very rare genetic disorder in which there are congenital problems which fit into a recognizable pattern of features.
What are the characteristics of Joubert Syndrome?
The most typical features of Joubert Syndrome include:
Absence or underdevelopment of part of the brain called the cerebellum vermis which controls balance and coordination.
A malformed brain stem, which may cause an abnormal breathing pattern called episodic hypernea, in which babies pant, and may be followed by apnea (cessation of breathing).
Abnormal eye and tongue movements.
Decreased muscle tone. It can be marked in the neonatal period and in infancy.
Seizures (less typical).
How is Joubert Syndrome diagnosed with an MRI?
Please see the "Molar Tooth" MRI scan on the Diagnostic section.
How is Joubert Syndrome inherited?
Joubert Syndrome is inherited in an autosomal recessive manner. Both parents are carriers of the gene. Genetic testing is not currently available to detect this condition. Parents who have a child with Joubert Syndrome have a 1 in 4 chance of having another affected child in another pregnancy. Prenatal testing with a level 3 ultrasound may be possible.
What is the prognosis for Joubert Syndrome?
While global developmental delay is frequent, health and growth are usually not severely affected. Commonly there is a degree of mild or moderate retardation. Severe mental retardation is uncommon. There are a few cases of affected individuals with normal intelligence or learning abilities.
What is the treatment for Joubert Syndrome?
Infant stimulation, physical therapy, occupational therapy, and speech therapy are valuable. Somewhat less traditional therapies such as auditory training, sensory integration, horseback therapy and water therapy have also been found to be very beneficial. Infants with abnormal breathing should have apnea monitoring.
Needless to say this news has been crushing for our family, and devastating to my sister and brother-in-law. The effects of this disease can really range from a minor learning disability to physical and mental handicap. The Ultra Sound just revealed that her kidneys are perfectly normal, which is a huge answer to prayer. So at this point, it's just a bunch of tests, waiting, more waiting, and even more waiting to see how she develops. The good news is that some of their initial concern was based on the fact that Peyton wasn't smiling or laughing and she just did for the first time last week.
Lydia and I have bought a candle that is our reminder to pray for Peyton. We light it as we're praying and it serves as a visual reminder and tangible way that we can see our prayer time being logged on a candle burning down to nothing. (i think we got this idea from Phil and Ruth back in the fall when Todd died?)...
as a parent this stuff really causes you to step back, question, get angry, grieve, hope, pray, wait, and every other emotion under the sun.
will you send up a quick prayer for Peyton?
1 comment:
thank you for the update. it seems like there are more and more babies with issues these days. my heart bleeds for your family...may peyton's family experience a peace that passes all understanding...
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