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Marrying your best friend
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Bryson, Emily, Hunter, Eleyna, Rockwell & baby Bria
Happiness
Marrying your best friend
Words to live by
"I don't want to drive up to the pearly gates in a shiny sports car, wearing beautifully tailored clothes, my hair expertly coiffed, and with long, perfectly manicured fingernails. I want to drive up in a station wagon that has mud on the wheels from taking kids to scout camp. I want to be there with a smudge of peanut butter on my shirt from making sandwiches for a sick neighbor's children. I want to be there with a little dirt under my fingernails from helping to weed someone's garden. I want to be there with children's sticky kisses on my cheeks and the tears of a friend on my shoulder. I want the Lord to know I was really here and that I really lived." ~Marjorie Pay Hinckley (emphasis mine)
Our Family & Friends
About Me
Lissencephaly
The following is a "quick" explanation of lissencephaly, the condition our handsome Hunter was born with.
Lissencephaly is a malformation of the brain in which the brain surface is smooth rather than convoluted. In man, the surface of the brain is formed by a complex series of ridges and valleys. The ridges are called gyri or convolutions, and the valleys are called sulci. In children with lissencephaly, the normal convolutions are absent or only partly formed, so the surface is smooth. Lissencephaly is usually diagnosed based on interpretation of either a CT or MRI scan of the brain. (Hunter was diagnosed from a CT scan.)
Lissencephaly is only rarely suspected at birth or soon after. Some of the problems parents are likely to notice first include failure to develop visual tracking, poor feeding and weight gain, and seizures. In most children, slow development is recognized between 2 and 6 months of age.
Hunter's specific lissencephaly syndrome is called isolated lissencephaly sequence (ILS). Children with ILS have profound mental retardation with abilities limited to brief and inconsistent visual tracking, brief smiling and some spontaneous movements. They are floppy (due to low muscle tone) and significantly less active than normal children. Head control is poor and they often arch their head and trunk backwards. Seizures are a part of everyday life. Anti-seizure medications can help keep the seizures under control, but total control is nearly impossible to achieve. A child with ILS has a much shorter lifespan than normal.
After some genetic testing, we discovered that Hunter's lissencephaly is the result of a genetic abnormality. He is missing a very small piece of chromosome 17. Since neither Bryson nor I have any missing genetic material, Hunter's condition is not hereditary. (Therefore, the chance of any of our other children having lissencephaly is virtually nonexistent.) In Hunter's case, what happened can be compared to a smudge on a Xerox copy. Genetic material, for whatever reason, simply wasn't copied correctly.
I know people wonder if we are able to have meaningful interaction with Hunter. Parenting Hunter is very interactive and meaningful! Not just anyone could step in and know how to read his cues, but I know that we know Hunter and that he has a personality. It is such a joy to care for him. He is the snuggliest, sweetest boy ever! Knowing that our family is going to be together forever, and that we have the chance to embrace a resurrected Hunter someday, makes the tough days worth it.
If you want to know more about Hunter's life, check out his blog.
Lissencephaly is a malformation of the brain in which the brain surface is smooth rather than convoluted. In man, the surface of the brain is formed by a complex series of ridges and valleys. The ridges are called gyri or convolutions, and the valleys are called sulci. In children with lissencephaly, the normal convolutions are absent or only partly formed, so the surface is smooth. Lissencephaly is usually diagnosed based on interpretation of either a CT or MRI scan of the brain. (Hunter was diagnosed from a CT scan.)
Lissencephaly is only rarely suspected at birth or soon after. Some of the problems parents are likely to notice first include failure to develop visual tracking, poor feeding and weight gain, and seizures. In most children, slow development is recognized between 2 and 6 months of age.
Hunter's specific lissencephaly syndrome is called isolated lissencephaly sequence (ILS). Children with ILS have profound mental retardation with abilities limited to brief and inconsistent visual tracking, brief smiling and some spontaneous movements. They are floppy (due to low muscle tone) and significantly less active than normal children. Head control is poor and they often arch their head and trunk backwards. Seizures are a part of everyday life. Anti-seizure medications can help keep the seizures under control, but total control is nearly impossible to achieve. A child with ILS has a much shorter lifespan than normal.
After some genetic testing, we discovered that Hunter's lissencephaly is the result of a genetic abnormality. He is missing a very small piece of chromosome 17. Since neither Bryson nor I have any missing genetic material, Hunter's condition is not hereditary. (Therefore, the chance of any of our other children having lissencephaly is virtually nonexistent.) In Hunter's case, what happened can be compared to a smudge on a Xerox copy. Genetic material, for whatever reason, simply wasn't copied correctly.
I know people wonder if we are able to have meaningful interaction with Hunter. Parenting Hunter is very interactive and meaningful! Not just anyone could step in and know how to read his cues, but I know that we know Hunter and that he has a personality. It is such a joy to care for him. He is the snuggliest, sweetest boy ever! Knowing that our family is going to be together forever, and that we have the chance to embrace a resurrected Hunter someday, makes the tough days worth it.
If you want to know more about Hunter's life, check out his blog.
9 comments:
Em that's great about the blessing, I am glad it was such a great day for you. I don't even know Hunter but every time I see pics of him I just love him. You look really beautiful in that recent pic of all of you..the main one now of your blog? Anyways your great
So sweet! :)
They already look like great friends. So precious!! I hope all the new mom "fun" is settling down. You have a wonderful little family.
Gorgeous smile on that little gal! Looks like she's got spunk!
That is sooo precious!
I love your family picture too! It was great seeing you! Love ya'll!
They are so cute!!! You can definitely tell they brother and sister. For sure we need to get together maybe this coming week. I leave for Cali on Thursday but am free until then. I will try and call you!
I meant they ARE brother and sister :) That's what I get for not reading before I post. Love ya!
Hi Emily,
I am a friend of Sara Staker's and have stopped by your blog from time to time. I just read your post regarding seizure medications (I know I am very late!) and thought I would let you know that we have tried Trileptal & Keppra for our son's seizures. Every boy and every seizure type is different but we did discuss the ketogenic diet at length with our Dr. in case our 2nd medication (Keppra) didn't work. He suggested we go straight to the diet if we failed med #2 because he has seen a lot of success with it and the side effects are so minimal vs. drugs. He especially encourages it for children who are tube fed (I'm not sure if this applies to Hunter or not) because it is so much easier to control the food intake that way. Luckily we have had success with med #2 but I will let you know if we end up trying the diet. I have a close friend here in AZ whose son has lissencephaly and I will ask her what methods they have tried.
p.s. Congratulations on the new addition to your family!
hey Em,
I love you so much. you are so cool.those pictures are so cute of Hunter and Eleyna. I hope u have a nice day.love,Dede
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