Tuesday, September 29, 2009
Irelyn
Hello all, both Wendy and I are going to try out this blog thingy. We will update it as often as we can an try to post pics weekly.
For those that do not know Irelyn's story here it is.
Irelyn was born September 4 at 14:27.
She was 18 3/4 long and weighed in at 5 lbs. 15 oz.
She was born with general low muscle tone and would not feed by mouth. We spent 3 days in Menorah's NICU before Irelyn was transferred to Children's Mercy NICU.
While everyone was WONDERFUL at children's 14 days seemed to last forever. After being seen, tested and examined by just about every doctor in the hospital on our 13th day we found out that our princess Irelyn had Prader-Willi syndrome (PWS).It was at the top of the differential diagnosis of the team but she presented with only a couple of the symptoms. Her muscle tone dramatically improved in just 1 week, she would eat by mouth but would get worn out really really fast. This is why it took them so long to pinpoint what was going on.
Her initial FISH test was negative for this but her methylation came back positive. What this meant is that Irelyn had Uniparental disomy form of PWS.
Here is what that means:
Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Prader-Willi syndrome occurs when the region of the paternal chromosome 15 containing these genes is missing. In other words Irelyn has 2 copies of seven genes of Wendy's 15th chromosome instead of 1 from me and 1 from her.
More info can be found here http://ghr.nlm.nih.gov/condition=praderwillisyndrome
As of 9/30 she still has her Mic key tube in place and gets 100% of her feedings from that every 3 hours. We are waiting to get the swallow study done before we try to feed her at home to make sure she does not aspirate, as that would set us way back in progress. We go 10-8 to the specialty care clinic so they can set up her feeding plan and see what else she is going to be needed. First steps has already come by and we are expecting to see them 2x a week for pt/ot treatment.
We are very fortunate that one of the best PWS doctors in the nation is in the Kansas City area at KU. I don't know how we got in so fast but we go to see him on 10-7. His name is Dr. Merlin Butler, he is the editor of what has been come to be called "The Prader-Willi Bible" Management of Prader-Willi Syndrome http://www.pwsausa.org/merchand/mgmtPWS.htm . This is the appointment we are most excited about!!
For those that do not know Irelyn's story here it is.
Irelyn was born September 4 at 14:27.
She was 18 3/4 long and weighed in at 5 lbs. 15 oz.
She was born with general low muscle tone and would not feed by mouth. We spent 3 days in Menorah's NICU before Irelyn was transferred to Children's Mercy NICU.
While everyone was WONDERFUL at children's 14 days seemed to last forever. After being seen, tested and examined by just about every doctor in the hospital on our 13th day we found out that our princess Irelyn had Prader-Willi syndrome (PWS).It was at the top of the differential diagnosis of the team but she presented with only a couple of the symptoms. Her muscle tone dramatically improved in just 1 week, she would eat by mouth but would get worn out really really fast. This is why it took them so long to pinpoint what was going on.
Her initial FISH test was negative for this but her methylation came back positive. What this meant is that Irelyn had Uniparental disomy form of PWS.
Here is what that means:
Prader-Willi syndrome is caused by the loss of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activation is caused by a phenomenon called genomic imprinting. Prader-Willi syndrome occurs when the region of the paternal chromosome 15 containing these genes is missing. In other words Irelyn has 2 copies of seven genes of Wendy's 15th chromosome instead of 1 from me and 1 from her.
More info can be found here http://ghr.nlm.nih.gov/condition=praderwillisyndrome
As of 9/30 she still has her Mic key tube in place and gets 100% of her feedings from that every 3 hours. We are waiting to get the swallow study done before we try to feed her at home to make sure she does not aspirate, as that would set us way back in progress. We go 10-8 to the specialty care clinic so they can set up her feeding plan and see what else she is going to be needed. First steps has already come by and we are expecting to see them 2x a week for pt/ot treatment.
We are very fortunate that one of the best PWS doctors in the nation is in the Kansas City area at KU. I don't know how we got in so fast but we go to see him on 10-7. His name is Dr. Merlin Butler, he is the editor of what has been come to be called "The Prader-Willi Bible" Management of Prader-Willi Syndrome http://www.pwsausa.org/merchand/mgmtPWS.htm . This is the appointment we are most excited about!!
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