Monday, November 21, 2005

Luke's birth story

Luke was born 37.5 weeks gestation and considered term on Nov. 21st, 2005. Immediately after birth Luke went into hyper insulin shock and went into respiratory distress therefore was put on the vent in the PICU at Children's downtown.

I (the mom) was gestational diabetic and not treated properly for this during my pregnancy. Hence, why Luke's glucose levels were all over the map. They had to treat him to stabilize his glucose levels as well as keep him vented for 2.5weeks in the PICU.

Consequently, there were 2 failed extubation attempts and then after 2.5 weeks....extubation successful and Luke was breathing on room air. During the 2.5week PICU intubation period, Luke was diagnosed with severe hypotonia throughout his entire body and poor suck/swallow. He also was born with severe edema and had contractures in his hands and feet.

He was also diagnosed with Larynomalacia by the ENT and was ordered to sleep on his side and we were ordered to not let him cry if possible. His throat would collapse if he cried on his back therefore causing him to desat and then he would code. This advice from the ENT saved our son's life many times as we learned very quickly that GRAVITY was Luke's friend. He slept and cried on his side and this really helped.

At this point, Luke had been tested for SMA and many other MDA disorders and all were coming back negative. A modified barium swallow study showed the Luke aspirated both ways (refluxing and liquids going down his throat) therefore we opted for a gtube and fundo nissen surgery to be performed by Dr. Hermann.

Also, during this surgery Dr. Hermann performed a muscle biopsy for Dr. Iannaccone at 3mths of age. The muscle biopsy came back inconclusive and favored that I was gestational diabetic. diagnosis. Overrall Luke was in the NICU/PICU for 94 days.

As parents we were given the diagnosis of hypotionia and Laryngomalacia and we were told to come see Dr. Iannaccone after he was 6mths of age. (to which we did) Dr. Iannaccone, Dr. Gelfand (pulmologist), Dr. Tseng (Ent) and Dr. Conger (primary Pediatrician) were all followed up with during the 18mths of Luke's pre-diagnosis.

At 18mths, Dr. Iannacone scheduled an EMG showing that Luke's condition was specified at Congential Myasthenic Syndrome. 6 weeks later, we were at the Mayo Clinic taking blood tests to determine exact strand of the CMS gene mutation.

At 19mths of age, Luke's gene mutation was confirmed as the Rapsyn gene and therefore he was put on Mestinon medication and responding very well.

Birth pictures below ----minutes after birth
To be bold...this picture below scares the 'hell' out of me. Knowing that my child could not breathe upon birth and to have this picture is frightening. God saved our child for sure.
Oxygen going in on his face.
Me holding him 24 hours later for the first time at Lewisville Hospital and then moments later...Children's picked him up and transferred him to Children's downtown.

Luke is 24 hours old and when I saw him for the first time..he stared right at me intently. I will never forget the moment. He knew I was momma.


kayr said...

hi there, my name is kay and i live in the uk. i have been searching for someone who is anything like my jasmine, and oh boy luke is just the same, same birth story and follow up only jasmine is nearly 4 years now and doing fantasticly well. they have the same gene mutation, nissan fundaplacation, muscle byopsey and jasmine had to have a tracotomy did luke. she has had that out now and copes with a cheast infection without being vented or hospitalised. so pleased to have found someone after 4 years of noone and no doctors knowing much. would love it if you wrote back. many thanks kay ( a.k.a mummy)

Andrea "The H family" said...

Dear Kay, what is your email address? Email me @
I have no way of getting a hold of!
I can't wait to hear more about your sweet Jasmine. So glad to hear she's doing so well!!