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Tuesday, November 3, 2009

We Have Answers! A Lifetime of Learning...

Smith-Magenis Syndrome is the name for a micro deletion of the 17th chromosomes in Hayleigh's DNA. We were given the diagnosis officially about 2-3 wks ago, but we were waiting to have the conversation with the genetics team at Spectrum Health. I dare not try to explain all of the "stuff" in great detail, but will emphasize the things I took away from the meeting. I would ask you and encourage you to first continue to pray for her, but please go to the following website to learn more and support if you wish: www.prisms.org

The 3 most important areas of concern we will be forever faced with is her sleep cycle, communication and mood swings.
Her "circadian rhythm" which is a big word for one's normal sleep cycle. We sleep at night when the sun is down and are awake during the day. These children tend to want to sleep during the day and be awake at night. Currently Hayleigh goes to sleep around 8pm and wakes faithfully between 5am and 6am! (BTW this is normal for SMS kids, waking up before the sunrise; I refrained from using the "crack of dawn" for fear of offending my mother!)

Second thing is her speech. Probably better to call it communication challenges. This area will be tough for her as well. Only time will tell if she will ever talk or not. She might use sign language, pointing and picture books. She could also speak simple words, small phrases or complete paragraphs. Time will tell.

Third and final thing is mood swings which are really going to be greatly affected by her sleep and communication. SMS kids can be self-injurious by banging there heads hard, pick at their skin, or poking things into any orifice on their bodies, especially when they are mad or frustrated. Tantrums are par for the course, which Hayleigh does not do very often, YET! She is 2 yrs old.

She will have routine urine specimens the rest of her life as this can do damage to her kidneys if we are not careful. Early prevention is most important. The other thing to note is that there is a varying degree of handicap with all of these kids. We feel at this time Hayleigh is on the milder side, but much remains to be seen.

We have Early On coming out to further work with her speech and occupational skills. Diet might be another angle to look at as these kids are prone to be constipated too!

One final revelation to me was that this micro deletion caused her to be born with the heart defect. I had the cart and the horse reversed.

Mommy gets a little sad at times and I must admit it is heart breaking for me at times to think she will never be "normal". BUT I am quickly reminded that she will never comprehend the difference. She will always just be Hayleigh and live her life to the fullest with much JOY!

Please visit the site prisms.org

Until next time...

2 comments:

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Tiffany said...

Thank you for Hayliegh's story. Wow, you basically put our story in exact words for us. Give or take. All your points of SMS which affected your life is similar to ours. Jaxx is 5 we just got diagnos I knew of his heart condition when I was 5 months pregnant but the rest was something else. He has testicle issues & hernia. At 3 months VSD heart had to be repair. That was the scarest for me these other issues deal with how to help h improve. Tubes in hear 3 time delays jaxx didn't walk until 2 something . Pt, speech,& occupational therapy nor verbal . These 2 yr since lose my job found great pediatric & helped us figure out what he has a lot of test . Funny we were in correct path of all doctors. Funny I saw missing poster smith Magimus sign everything was jaxx but the beating & biting we didn't have issues stupid me insurance issues not paying 2 yrs ago micro array test done that is how we found out now how tonnage his life best for jaxx sleep same 5:30 everyday outburst cry for no reason is same lie is still non verbal