Eli went to the genetic and metabolic clinic at Children's Hospital on Tuesday. They were wonderful there despite the warning I received from our pediatrician that the geneticist was morbid and always looked for the negative in her patients. Unfortunately the geneticist also had the same frustrating answer that all of Eli's specialists have for us........Eli is an anomoly, an enigma, an entity of his own. Not that Al and I don't think Eli is special and unique, it's just irritating that a group of specialists who are supposed to figure out what is wrong with your child, can only say that he's following his own path and making his own road. The great news is that the geneticist does not think that Eli has any genetic issues! She did run a Chromosome Microarray Analysis which is basically an extremely detailed chromosome test. She also ordered a blood test for a genetic disorder which Eli has certain characteristics of (constipation, aspiration, FTT, extreme caloric needs) but does not have the other, more pertanent characteristics of (MR, microcephaly, cranial structural problems, missing digits). The syndrome is Smith-Lemli-Opitz Syndrome and she only ordered the test because it was a simple blood draw to rule it out. Eli also had growth hormone testing done at the same time to determine if his stall in linear growth in the past 4 months has been due to his FTT or to an underlying hormone issue.
Al and I finish the 2 hour appt with the geneticist with the orders for all of the bloodwork and a recommendation that his GI doctor order an endoscopy and a colonoscopy to rule out all other possible diseases. We gathered our smiley Eli and the overpacked diaper bag and hopped on the elevator to head towards the lab. Our Children's Hospital is wonderful and they are fully prepared to entertain and distract children of all ages from painful procedures like blood draws. Eli has had more than his share of draws in his short 14.5 months but when we saw NINE vials laid out on the table to be filled our jaws dropped! They took 9 full 10mL vials of blood from our boy!! He was a trooper through it all and only cried when they first stuck him. We will have the results in 2 weeks but the geneticist said she expects everything to come back normally.
Here are some pics of Eli and Carson from this week to end my post. Enjoy!
Al and I finish the 2 hour appt with the geneticist with the orders for all of the bloodwork and a recommendation that his GI doctor order an endoscopy and a colonoscopy to rule out all other possible diseases. We gathered our smiley Eli and the overpacked diaper bag and hopped on the elevator to head towards the lab. Our Children's Hospital is wonderful and they are fully prepared to entertain and distract children of all ages from painful procedures like blood draws. Eli has had more than his share of draws in his short 14.5 months but when we saw NINE vials laid out on the table to be filled our jaws dropped! They took 9 full 10mL vials of blood from our boy!! He was a trooper through it all and only cried when they first stuck him. We will have the results in 2 weeks but the geneticist said she expects everything to come back normally.
Here are some pics of Eli and Carson from this week to end my post. Enjoy!
2 comments:
hey kellie, I was wondering how the appointment would go... glad to hear the news was not bad! I was also wondering what kind of labs they'd draw. We're looking at those appointments next month (neurology, genetics) and I am interested. Are they doing a rectal biopsy also? It seems I hear the same words regarding my bunny- "we just don't know", "it's definately not usual" & "I'd like to do more tests". Gets frustrating when all you want is answers but every appointment just brings more questions!
The boys look great, though, and both look very happy playing in the sun! You and hubby sure do have cute offspring!
Kim (& Sarah)
That is great that they don't think anything will come back from the labs, that's a good thing. I think Eli is just growing how he wants to and not people expect him to. lol Eli is a true miracle and as hard as it is to swallow for you and Al, he truly does seem to be paving his own road. I have no doubt that Carson and Eli both will make huge impacts in life as they grow up and in their adult lives. They are truly miracles and unique children in every aspect of the words. They both look very happy and healthy to me. :) They are such dollbabies, you and Al procreate very well... hehe
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