Genetic results
Skip over if you don't want a boring genetics lesson, but been meaning to copy the technicalities on Smiley's genetic report for a while, and since it's really been bothering me a lot lately today is the day if anyone is bored or very curious or wants to research: After the results, I have updated more on his progress developmentally.
All abnormalities are on chromosome 15:
a 2 copy gain(4 total copies instead of normal 2) of 424 oligonucleotide probes from 15q11.2-q13.3 estimated 9.5Mb in size followed by a single gain(3 total copies) of the next 53 oligonucleotide probes from 15Qq13.2q13.3, estimated 1.5 Mb in size
syndromes in this region of the gene: Angelman Class I, Angelman class II, Oculocutaneous albinism 2 (OCA2), Prader Willi (PWS) class I and class II
OMIM genes in affected region: POTEB, TUBGCP5, CYFIP1, NIPA2, NIPA1, MKRN3, MAGEL2, NDN, PWRN2, PWRN1, C15orf2, SNRPN, PAR5,IPW, PAR1 UBE3EA, ATP10A,GABRA5,BARBG3,OCA2, HERC2,APBA2, NDNL2, TJP1
Ok, my head hurts now.
Feeding issues have gotten worse. Although I've been proactive in working with the doctors and seeking help I've been seeing "failure to thrive" documented on some medical records which scares the hell out of me that someone may try to report me for neglect. I know I had the medical documentation of his conditions and all the doctors/therapists we've been seeing, it's still scary.
I don't know why this fear has come on so strong lately, especially since deciding to not seek work for a while to try to get him as much extra care as possible. Even with all the therapists he has seen, none of them could get him to chew either. I feel like a failure having to see the surgeon yesterday to schedule to re-insert the g-tube. Your child fighting meals is one of the most helpless feelings in the world. At least when J is playing around and eating little, I can put an instant breakfast in milk and he will drink it all. Smiley will still only take about 2 oz. of drink per feeding/sitting(although he is progressing somewhat).
My little man is getting physically stronger than me. I need assistance with diapering and bathing because he moves around so much and is extremely flexible in getting out of your grasp. That being said, these times are amusing because he's giggling non-stop while doing all the wiggling. He no longer wants to sit in the tub, but stand and attempt to dive in the water, along with splashing of course. He can also turn the water on if he cans a hand free. Bathtime is the most exhausting chore, but at least he enjoys himself, but mommy is exhausted after.
Sleep is an area he does well in! I put him down, he bounces and babbles a while and then will go to sleep when tired and sleep for the night. This is only if he's in a contained baby bed alone. Put him in real bed beside you, he would be up all night.
Well, if anyone is still reading, thnaks for listening. I know it's probably the pregnancy hormones making me worry so much but feels better and writing it down and letting it out a little.
All abnormalities are on chromosome 15:
a 2 copy gain(4 total copies instead of normal 2) of 424 oligonucleotide probes from 15q11.2-q13.3 estimated 9.5Mb in size followed by a single gain(3 total copies) of the next 53 oligonucleotide probes from 15Qq13.2q13.3, estimated 1.5 Mb in size
syndromes in this region of the gene: Angelman Class I, Angelman class II, Oculocutaneous albinism 2 (OCA2), Prader Willi (PWS) class I and class II
OMIM genes in affected region: POTEB, TUBGCP5, CYFIP1, NIPA2, NIPA1, MKRN3, MAGEL2, NDN, PWRN2, PWRN1, C15orf2, SNRPN, PAR5,IPW, PAR1 UBE3EA, ATP10A,GABRA5,BARBG3,OCA2, HERC2,APBA2, NDNL2, TJP1
Ok, my head hurts now.
Feeding issues have gotten worse. Although I've been proactive in working with the doctors and seeking help I've been seeing "failure to thrive" documented on some medical records which scares the hell out of me that someone may try to report me for neglect. I know I had the medical documentation of his conditions and all the doctors/therapists we've been seeing, it's still scary.
I don't know why this fear has come on so strong lately, especially since deciding to not seek work for a while to try to get him as much extra care as possible. Even with all the therapists he has seen, none of them could get him to chew either. I feel like a failure having to see the surgeon yesterday to schedule to re-insert the g-tube. Your child fighting meals is one of the most helpless feelings in the world. At least when J is playing around and eating little, I can put an instant breakfast in milk and he will drink it all. Smiley will still only take about 2 oz. of drink per feeding/sitting(although he is progressing somewhat).
My little man is getting physically stronger than me. I need assistance with diapering and bathing because he moves around so much and is extremely flexible in getting out of your grasp. That being said, these times are amusing because he's giggling non-stop while doing all the wiggling. He no longer wants to sit in the tub, but stand and attempt to dive in the water, along with splashing of course. He can also turn the water on if he cans a hand free. Bathtime is the most exhausting chore, but at least he enjoys himself, but mommy is exhausted after.
Sleep is an area he does well in! I put him down, he bounces and babbles a while and then will go to sleep when tired and sleep for the night. This is only if he's in a contained baby bed alone. Put him in real bed beside you, he would be up all night.
Well, if anyone is still reading, thnaks for listening. I know it's probably the pregnancy hormones making me worry so much but feels better and writing it down and letting it out a little.
posted by Lisa @ 7:05 AM
5 Comments:
At 8:50 AM,
Ms. J said…
I think you are doing the right thing in making sure it's documented that you are seeking assistance in trying to address his feeding issues.
While nowhere near what you are dealing with . . . we do the same with the Mongolian spots on our elder daughter's backside/bum, with every doctor or health care person who comes into contact with her. And we will have to do this in the fall when she enters pre-school. They look like faded bruises, so can appear suspicious.
I think sharing the Smiley updates is a good idea (I enjoy them!) plus it gives you a permanent place to have all of the stats, info, etc. should you need it (easier than locating scraps of paper, and if you have a phone with internet access you can just search your blog for it if you are at a dr. appt. and need it).
At 9:11 AM,
The Semi-Domesticated Mama said…
I've been a longtime reader of your blog, can't remember if I've left many comments though. My 7 year old had Prader Willi Syndrome Type 1. He has a deletion along chromosome 15 instead of a duplication. He had the severe FTT as an infant and all the way up until around age 4. He's still very small for his age and doesn't fit many of the typical PWS symptoms. I had the same fear of a neglect report. I actually copied all his medical records and diagnosis' along with a letter from our pediatrician and our PWS specialist. I kept it in a waterproof envelope in my purse and another set in my car. Just in case. It made me feel better to have it.
And Ms.J- 3 of my 4 kids have Mongolian spots on their buttocks. My child with PWS has them as he is of AA and Fijian decent. My youngest 2 children are half caucasian and half Filipino and have very prominent Mongolian spots. I had a horrible fear of an abuse report, to the point that they didn't leave my sight for a very long time. No babysitters, no daycare, nothing. I've relaxed over time but that little nagging fear will always be there. The joys of working in the system for so long. Sigh.
At 12:06 PM,
JUST A MOM said…
you have your papers NEVER LIVE LIFE IN FEAR!!!!!! let it slide out of yoru brain and heart,, enjoy life.
At 1:37 PM,
Anonymous said…
I feel you pain on the feeding issues, and I know ours aren't nearly as severe as yours. I fear that someday they will be though. Anybody with eyes and ears would know that you are a wonderful mom!
At 6:55 PM,
Lisa said…
Thanks, I'm feeling a little better this afternoon. I picked my little man up at school and he pulled off my visitor sticker. He likes to throw things, so he has this sticker stuck to his finger trying and trying to throw it with a puzzled look on his face, while I'm walking down the hall laughing my butt off. He finally got it off and dropped it and another kid just picked in up and placed it in the trash!
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