Right now I am sitting in front of the computer listening to the buzz of the feeding pump rolling as Ivey ‘eats’ (a monotone sound that has become part of our existence) and listening to my ipod favorites on the computer, while singing with Ivey as she sits here in my lap. That is the extent of what sounds I am paying attention to. So let‘s switch gears, let’s do this blog from Ivey’s seat. From her perspective, you must include the tap tap tap of the keys of the computer, the clicking of the dishwasher as it completes its drying cycle, the creek of the rocking chair on the hard wood, my not-so good singing, and the buzz of a weed eater somewhere. We are listening to How To Save A Life by the Fray, up next will be Ruby by Kenny Rogers (it has some great sounds) and then God Bless The American Housewife by SheDaisy (this is just a good one for any SAHM!).
The first 24 hours following Ivey’s birth are lost from me, even today. Matt reassures me that it is better that I not remember yet and when I do, the day will be long. The guilt of not remembering the first day of my daughter’s life is at times unbearable. There are a few memories, but they are extremely blurred. I am not even sure that I could put those memories in the correct sequence of occurrence. I do recall Ray coming into the hospital room. I have no idea how long he was there, but I remember him. I also remember him saying the neonatologist will come to speak to you.
For the first time in my life, I felt pure Fear. Matt and I looked at each other. If his face was a reflection of mine, I now know what Fear looks like.
The hospital door opened. A woman walked in the room. I am most positive that it was a somewhat extensive conversation, but I heard only three words,
“Ivey is blind.”
Dr. Laura broke the news. The woman who sat in front of me instantly became my life-line to my daughter. Somewhere down the hall, there was a 5 lb 11oz baby girl in a dark unfamiliar world, scared. Her only safe haven was missing.
Anophthalmia is a rare disorder that develops early during pregnancy and most often is associated with other birth defects. In cases where babies exhibit anophthalmia, there is an absence of one or both eyes. Both of Ivey’s eyes are missing, this is called bilateral anophthalmia. After examining Ivey and performing an ultrasound on each of her eyes, the ophthalmologist concluded that she is absent of both eyes and optic nerves. Therefore, there is not a treatment that will restore her vision. She will always be blind.
In the space where Ivey’s eyes should be, there is some residual tissue. For that reason, the socket space is not completely empty. The tissue looks somewhat translucent; it is not white nor does it have any signs of a retina. Because the eyes were not developed, her eye sockets are smaller than average. Her eyelids are also small due to the fact that they did not have pressure from the eyes to cause them to expand. The conformers will help to correct these problems. Ivey does have eyelashes. Like Knox and Walker, she has long dark lashes. Once the conformers do their thing and she receives her prosthesis, she will have big beautiful eyes. Matt and I will have one very tough choice. What color will Ivey’s eyes be?
(New song….If I Needed You by Don Williams and Emmylou Harris.)
From Ivey’s point-of-view, she wonders why I keep cramming these hard conformers into her eyes. Nevertheless, she keeps rubbing them out. Do you think she is trying to tell me something? Yes, she does cry when I replace the conformers in her eyes; however, she cries more from having her hands being restrained and from holding her head. The conformers are painless. Ivey returns to the ocularist every 6 weeks for a larger pair of conformers. She will receive her first pair of prosthetic eyes near her second birthday.
(Beep…Beep….Feeding pump needs to be turned off. No boy sounds, due to the fact that they are at First Baptist right now.)
So, now for ‘The Big Question’ looming on everyone’s mind, “What is life like with a blind baby?” The first couple of months - terrifying, then slowly, common sense begins to kick into high gear. She is just a baby, and not too much different from the boys, with the exception of the whistles and bells jammed in every cavity of her face. She can not talk, crawl or walk yet, so she sits just like any other baby. She does not turn toward sounds or voices, but she does not have the visual cue to do so. However, Ivey does get very still as she listens. We talk to her as we enter the room so she is aware of our presence. We tell her when we are going to touch her so not to startle her. We are learning a new lingo too. Now, we do not say, “Knox ‘show’ Ivey your picture”. We say, “Knox ‘describe’ your picture to Ivey”. Or, if the boys say, “Ivey watch me”, we redirect them to narrate what they are doing. When I talk to Ivey, I hold her close to my face so she knows when I am speaking directly to her. Certain people have become familiar to Ivey; she behaves differently around the people she recognizes. Sounds are important, but so are her other senses.
Ivey loves to get naked! Whenever I start to undress her for baths or to change her clothes, she gets the biggest grin! I think it is the ‘touch’ she loves. When we were working up to leave the NICU, Konda kept saying, “Now girl, you put that baby in the car and go. Make her part of your life, don’t become her only life." Well, we are working on that one; unfortunately, Ivey is not a fan of the car - yet. When she is upset, holding her hands will calm her, some of the time. She and I have stood in the rain so she knows its smell and feel. The neighbors probably thought I was crazy. On September 14th a new milestone was marked! I was holding her close and talking to her when she reached out and touched my face and smiled! She is finding comfort and security in her surroundings.
(Fast Cars and Freedom…Rascal Flats. Washing machine turns to spin cycle.)
Little by little, I am finding information on anophthalmia. Most of the information is through the internet. There are an only a few organizations and I have enrolled Ivey into them. Amazingly, we do have a family member who is able to supply us with information about visual impairments, even anophthalmia. We have also entered Ivey into a program called Georgia Pines, which is for visual and hearing impaired children. As we progress with Ivey, they will come to our home and give us suggestions to help improve Ivey’s world. Believe it or not, the doctors and organizations have not been my best resource. My most valuable resource has been a group of parents I found on the internet. It is a group with children whom all have bilateral anophthalmia. One mother I speak with is from Ireland. Finally, I have been able to have a conversation about conformers with people who know more about them than I do!
How appropriate, we are winding this blog up with Goodnight Elisabeth by the Counting Crows.
Ivey is a very happy and content baby. I miss her vision for her - she does not grieve for it. I find myself running my hand over the plaque to the restroom in restaurants or stores if they are in braille. The first day of her life may be a blur, but everyday since then has been a miracle. Maybe when God healed the blind he did not give true sight, but the greater ability to see the world as it is.
They say the eyes are the window to the soul. I do not believe that anymore. It is a smile.
9.25.2006
It's Meal Time!
Miranda has started scheduling meals for the month of October. We decided to change the meal schedule to Tuesdays and Thursdays because Ivey has many of her appointments at Scottish Rite on Tuesdays. Additionally, we are scheduling a week of meals for the week following Ivey's surgery. The surgery is scheduled for Friday October 27th.If you want to help with providing a meal for the Sirmans please contact, Miranda Styles at mirandastyles@comcast.net. Thanks so much for your help!
9.22.2006
Gotta Have Faith
God has been pretty patient with me lately. My conversations with Him normally turn into questioning why we have to carry this burden and shouting words of anger. And still, God has not shot down a lightening bolt and zapped me with the answer or came to me in a cloud-filled dream to explain his reasoning. He does probably get a good laugh out of some of the fits I throw at him from time-to-time. I would love to think he has a great since of humor. If you see me driving in my car - alone - and screaming irately, just chalk it up to one of my fits with God.
I have not doubted who God is, but I have found myself questioning his intention and resolution. I do not think I would be human if I did not admit that - it is all part of this roller coaster ride. Some days, I have found myself reaching out to God, almost begging for his support. On other days, my urge to flee from him is almost insuppressible. Instead of sitting idly by and waiting for the gates of Heaven to open up and wisdom pour out, I have done a little soul searching of my own - with God‘s help of course.
To try and settle this struggle within myself, I have read book upon book and I have talked to various people. I have read straight from the Bible itself all the way down the alphabet to Yancey. Some of my conversations with friends have centered on God and how he will heal this pain our family, especially Ivey, is enduring. Other conversations have been more dubious. They have revolved around insinuated ideas of God’s punishment, his reasoning, even his existence. It is easy to say what you would do in a crisis, especially when you are not the one in it. I can best relate this back to the time when I was single and childless. I knew exactly how I would handle the kid in the restaurant screaming at the top of their lungs pitching a terror of a fit, while everyone else was trying to enjoy a peaceful dinner. Now when my children are the ones screaming incessantly, well, if you have children, you get the picture. Some people would like for us to think they have an edge up on the rest of us, but they do not. From all of the books and deep conversations one thing is crystal clear; no one knows or can explain God’s intentions.
I must trust that his purpose for Ivey is to be life altering for everyone. She is one of his rays of light.
God may not be chucking down those lightening bolts, but he has been sending more subtle messages. In momentary lapses in the hustle of our new ‘normal‘, God has forced me to stop and look at the circumstance from a more enlightened perspective. It is very crucial to say, a little LESS SELFISHLY.
God may give us a lot of instruction, but never does he tell us which paths and choices we will face on our journey to him. Most importantly, God has NEVER promised life to be easy or fair. He does promise to guide us. There are stories in the Bible where God challenges his most loyal followers. Why should any of us be different? Everyone will have their own challenges, some trials will be of greater scale than others, but they will still happen. Only God will be able to explain them - in his own time. God has left us one inheritance that promises us that things will all make since in the end of our time here on Earth. - FAITH -
I read this a couple of weeks ago.
Faith is believing in advance what can only be understood in reverse.
-Anonymous-
Sometimes it is the wording that makes all the difference. Like I said, God occasionally steps in and BAM, another piece of the puzzle is added.
I have not doubted who God is, but I have found myself questioning his intention and resolution. I do not think I would be human if I did not admit that - it is all part of this roller coaster ride. Some days, I have found myself reaching out to God, almost begging for his support. On other days, my urge to flee from him is almost insuppressible. Instead of sitting idly by and waiting for the gates of Heaven to open up and wisdom pour out, I have done a little soul searching of my own - with God‘s help of course.
To try and settle this struggle within myself, I have read book upon book and I have talked to various people. I have read straight from the Bible itself all the way down the alphabet to Yancey. Some of my conversations with friends have centered on God and how he will heal this pain our family, especially Ivey, is enduring. Other conversations have been more dubious. They have revolved around insinuated ideas of God’s punishment, his reasoning, even his existence. It is easy to say what you would do in a crisis, especially when you are not the one in it. I can best relate this back to the time when I was single and childless. I knew exactly how I would handle the kid in the restaurant screaming at the top of their lungs pitching a terror of a fit, while everyone else was trying to enjoy a peaceful dinner. Now when my children are the ones screaming incessantly, well, if you have children, you get the picture. Some people would like for us to think they have an edge up on the rest of us, but they do not. From all of the books and deep conversations one thing is crystal clear; no one knows or can explain God’s intentions.
I must trust that his purpose for Ivey is to be life altering for everyone. She is one of his rays of light.
God may not be chucking down those lightening bolts, but he has been sending more subtle messages. In momentary lapses in the hustle of our new ‘normal‘, God has forced me to stop and look at the circumstance from a more enlightened perspective. It is very crucial to say, a little LESS SELFISHLY.
God may give us a lot of instruction, but never does he tell us which paths and choices we will face on our journey to him. Most importantly, God has NEVER promised life to be easy or fair. He does promise to guide us. There are stories in the Bible where God challenges his most loyal followers. Why should any of us be different? Everyone will have their own challenges, some trials will be of greater scale than others, but they will still happen. Only God will be able to explain them - in his own time. God has left us one inheritance that promises us that things will all make since in the end of our time here on Earth. - FAITH -
I read this a couple of weeks ago.
Faith is believing in advance what can only be understood in reverse.
-Anonymous-
Sometimes it is the wording that makes all the difference. Like I said, God occasionally steps in and BAM, another piece of the puzzle is added.
The Past 7 Days Away
....have been very busy.
A small recap:
Spent last weekend with Tasha and Mandy having a girls' trip to the spa....left behind 9 babies all under 5 and 3 great husbands....During the week there was two trips to Scottish Rite, one trip to pediatrician, and one broken arm (Knox's).
Ivey's Info:
Neurologist loved seeing her nibble her fingers, rub a conformer from her eye, coo at us and finally show her temper. Her orthodontist says we are still on track for her first surgery on her mouth. Ivey weighed in at 9.17 pounds and her apnea monitor was discontinued. She's getting to be a big girl.
After a great weekend at a spa.....this has been a tough week. Sometimes I just don't know how I will get through it, but then Angels appear all around. Thank you mom and dad, Traci, Tasha, Mandy, Cammie, Lowery, Charlie, Beth C., Beth S, Dana, G & G Gang, Heather and Nicki.
Our phone has been transferred to the new house; however, we are still in the old house. So, call us on the cell phones.
Gwen
A small recap:
Spent last weekend with Tasha and Mandy having a girls' trip to the spa....left behind 9 babies all under 5 and 3 great husbands....During the week there was two trips to Scottish Rite, one trip to pediatrician, and one broken arm (Knox's).
Ivey's Info:
Neurologist loved seeing her nibble her fingers, rub a conformer from her eye, coo at us and finally show her temper. Her orthodontist says we are still on track for her first surgery on her mouth. Ivey weighed in at 9.17 pounds and her apnea monitor was discontinued. She's getting to be a big girl.
After a great weekend at a spa.....this has been a tough week. Sometimes I just don't know how I will get through it, but then Angels appear all around. Thank you mom and dad, Traci, Tasha, Mandy, Cammie, Lowery, Charlie, Beth C., Beth S, Dana, G & G Gang, Heather and Nicki.
Our phone has been transferred to the new house; however, we are still in the old house. So, call us on the cell phones.
Gwen
9.10.2006
Ivey's Deleted Chromosome
http://www.pharmgkb.org/do/serve?objCls=Chromosome&objId=PA502
This link shows a picture of chromosome 21. If you noticed from some of the other pictures, this is actually one of the smaller chromosomes. It is astonishing that something so small can have such an effect on how we are created!
From the beginning of band 22.2 on the q-arm down, Ivey's 21st chromosome has been deleted.
Why? We can't truly answer why.
Genetically, Matt and I are fine. Normal.
More than likely there was a flaw in either the egg or the sperm. One or the other was missing that section of the chromosome. For some reason, that bit of information was left off when the egg or sperm was formed. That piece of the chromosome was just left off! Thankfully, there is no means to know which cell it was.
Geneticist do have an idea of characteristics located on the 21st chromosome. How this information from chromosome 21 is utilized and how it influences the function of other chromosomes is still unclear. However, certain known medical issues can be associated with chromosome 21. For example markers on chromosome 21 include, Alzheimer disease, breast cancer, epilepsy, deafness, leukemia and of course, Down syndrome. Through research, the information contained in chromosomes can potentially be unlocked.
So many people have asked questions about my pregnancy with Ivey. Why, why, why???? We didn't know about her condition. Fortunately, Ivey was the third baby. We had something to go on. Based on two pregnancies that resulted in two incredibly healthy boys, my pregnancy with Ivey was no different. Well, take that back, I was a little tired, but I was chasing a two-year old and a one-year old around all day! (Keep in mind, Knox turned 3 in March; Ivey was born in April. He was still two! Walker was one! It seems almost physically impossible.)
Ivey moved, kicked, flipped and hiccupped. The ultrasounds looked normal. Tests cameback normal. Trust me when I say, my OB has gone over my records with a fine toothed comb. How could my doctor instinctively know something was different when the mom carrying the baby had no "mother's intuition" about the development of the baby inside? I was with her 24/7..... Maybe the cleft lip could have been apparent, but only if she would have turned to reveal it. It's funny, when we did the 20 week ultrasound, Ivey would not turn for a profile. She refused. The technician tried several times. We pushed and prodded, tried shifting sides, but she just wouldn't budge! As a result, her cleft did not reveal itself. Her eyes you ask? Eye tissue is not visible in the pictures. Still, Ivey as a whole would and needed to be revealed at her birth as the miracle that she is. There have been many God moments on this path with Ivey, looking back, that 20 week ultrsound had a God moment. She was in the make to be who she is. By that point, it was in God's hands, still is.
Of course I did all of the genetic screening via blood work. Still, there is not a test for ‘everything‘. Actually, only a few tests are available for only a very small array of genetic abnormalities. Then the question arises, 'What about amniocentesis, etc'? Once again, I had two very healthy pregnancies prior to Ivey. And, I am only a 31 years old, not yet an age to call for amniocentesis.
Research is on going to identify genetic abnormalities. Maybe once there is a mode to identify these differences in genetic makeup, research can persist and acquire ways to better assist individuals with genetic abnormalities. That is our future. Ivey has the potential to help other babies that will be born Special. Through Emory University, samples of Ivey’s blood will be studied in hopes to aide in development of new and better chromosome testing technology. Ivey's contributions to this world will far expand any that I had ever intended for myself.
She will always be Ivey, but think of the new souls that she has the potential to touch.
She is an Angel here on Earth.
This link shows a picture of chromosome 21. If you noticed from some of the other pictures, this is actually one of the smaller chromosomes. It is astonishing that something so small can have such an effect on how we are created!
From the beginning of band 22.2 on the q-arm down, Ivey's 21st chromosome has been deleted.
Why? We can't truly answer why.
Genetically, Matt and I are fine. Normal.
More than likely there was a flaw in either the egg or the sperm. One or the other was missing that section of the chromosome. For some reason, that bit of information was left off when the egg or sperm was formed. That piece of the chromosome was just left off! Thankfully, there is no means to know which cell it was.
Geneticist do have an idea of characteristics located on the 21st chromosome. How this information from chromosome 21 is utilized and how it influences the function of other chromosomes is still unclear. However, certain known medical issues can be associated with chromosome 21. For example markers on chromosome 21 include, Alzheimer disease, breast cancer, epilepsy, deafness, leukemia and of course, Down syndrome. Through research, the information contained in chromosomes can potentially be unlocked.
So many people have asked questions about my pregnancy with Ivey. Why, why, why???? We didn't know about her condition. Fortunately, Ivey was the third baby. We had something to go on. Based on two pregnancies that resulted in two incredibly healthy boys, my pregnancy with Ivey was no different. Well, take that back, I was a little tired, but I was chasing a two-year old and a one-year old around all day! (Keep in mind, Knox turned 3 in March; Ivey was born in April. He was still two! Walker was one! It seems almost physically impossible.)
Ivey moved, kicked, flipped and hiccupped. The ultrasounds looked normal. Tests cameback normal. Trust me when I say, my OB has gone over my records with a fine toothed comb. How could my doctor instinctively know something was different when the mom carrying the baby had no "mother's intuition" about the development of the baby inside? I was with her 24/7..... Maybe the cleft lip could have been apparent, but only if she would have turned to reveal it. It's funny, when we did the 20 week ultrasound, Ivey would not turn for a profile. She refused. The technician tried several times. We pushed and prodded, tried shifting sides, but she just wouldn't budge! As a result, her cleft did not reveal itself. Her eyes you ask? Eye tissue is not visible in the pictures. Still, Ivey as a whole would and needed to be revealed at her birth as the miracle that she is. There have been many God moments on this path with Ivey, looking back, that 20 week ultrsound had a God moment. She was in the make to be who she is. By that point, it was in God's hands, still is.
Of course I did all of the genetic screening via blood work. Still, there is not a test for ‘everything‘. Actually, only a few tests are available for only a very small array of genetic abnormalities. Then the question arises, 'What about amniocentesis, etc'? Once again, I had two very healthy pregnancies prior to Ivey. And, I am only a 31 years old, not yet an age to call for amniocentesis.
Research is on going to identify genetic abnormalities. Maybe once there is a mode to identify these differences in genetic makeup, research can persist and acquire ways to better assist individuals with genetic abnormalities. That is our future. Ivey has the potential to help other babies that will be born Special. Through Emory University, samples of Ivey’s blood will be studied in hopes to aide in development of new and better chromosome testing technology. Ivey's contributions to this world will far expand any that I had ever intended for myself.
She will always be Ivey, but think of the new souls that she has the potential to touch.
She is an Angel here on Earth.
9.08.2006
Happy Birthday Big Brother
Happy Birthday Walker! #2 !Walker is our charmer. He can win your heart over with his sweet smile. Then before you know it, he is taking the nails out of the boards that hold the house together. He is the middle child which means he gets the comfort of being the baby brother and the prestige of being the big brother. He is sandwiched in the middle of lots and lots of love.
We love you Walker!
9.07.2006
Lesson I
1… Genetics is the branch of biology that studies heredity. There is sooooo much to this subject. We are not even going to begin to scratch the surface, just focus on how chromosomes are related to genetic disorders.
2... There is over 3 feet of DNA in just ONE of your cells!
3... DNA (Deoxyribonucleic acid)……DNA is our genetic “Blue Print”
4... April 25th is DNA Day and……Ivey’s Birthday! Next April 25, we will celebrate Ivey’s birth and the day that Watson and Crick discovered the structure of DNA
5... Genes: No, I didn’t misspell it…(Jeans) They are made of DNA. Our genes are inherited from our parents,one from your mom one from your dad. In essence,they control our heredity.
6... Every human has somewhere between 20,000 - 25,000 genes that determine traits and dictate growth and development.
7... Chromosomes carry our genes and are found in the nucleus of our cells.
8... Humans have 23 pairs of chromosomes .
9... Scientist can diagnose genetic disorders by looking at chromosomes.
10... Human Genome Project
Project that began in 1990 and ended in 2003, structured to identify a complete DNA sequence of the human genome. (maps genes or what scientists call ‘gene mapping‘) Analysis of the data received from this project will take many years. Results may help to cure or predict diseases.
11.. Genetic mutations happen when there is a mistake in the transmission or replication of genetic information. Genetic mutations can be inherited from one parent, both parents or they may be random occurrences. Mutations can be as simple as involving one gene and so extensive that they involve an entire chromosome. Mutations affect a genes’ function.
12... Classic chromosome mutations:
Translocation: Part of chromosome breaks-off and reattaches to another chromosome
Inversion: Part of a chromosomes information is reverse of it’s usual direction.
Duplication: A segment of a chromosome is repeated.
Nondisjuction: A whole chromosome is duplicated or it can be completely deleted.
(Example: Downs Syndrome. Result in having an extra 21st chromosome.)
Deletion: Part of a chromosome is completely lost. Deleted.
13..Ivey has part of her 21st chromosome deleted.
Homework: Just look at the pictures!!
http://www.accessexcellence.org/RC/VL/GG/human.html
http://learn.genetics.utah.edu/units/disorders/karyotype/whatarechrom.cfm
http://www.pharmgkb.org/search/browse/chromosomes.jsp
This one is important to Ivey:
http://www.pharmgkb.org/do/serve?objCls=Chromosome&objId=PA502
2... There is over 3 feet of DNA in just ONE of your cells!
3... DNA (Deoxyribonucleic acid)……DNA is our genetic “Blue Print”
4... April 25th is DNA Day and……Ivey’s Birthday! Next April 25, we will celebrate Ivey’s birth and the day that Watson and Crick discovered the structure of DNA
5... Genes: No, I didn’t misspell it…(Jeans) They are made of DNA. Our genes are inherited from our parents,one from your mom one from your dad. In essence,they control our heredity.
6... Every human has somewhere between 20,000 - 25,000 genes that determine traits and dictate growth and development.
7... Chromosomes carry our genes and are found in the nucleus of our cells.
8... Humans have 23 pairs of chromosomes .
9... Scientist can diagnose genetic disorders by looking at chromosomes.
10... Human Genome Project
Project that began in 1990 and ended in 2003, structured to identify a complete DNA sequence of the human genome. (maps genes or what scientists call ‘gene mapping‘) Analysis of the data received from this project will take many years. Results may help to cure or predict diseases.
11.. Genetic mutations happen when there is a mistake in the transmission or replication of genetic information. Genetic mutations can be inherited from one parent, both parents or they may be random occurrences. Mutations can be as simple as involving one gene and so extensive that they involve an entire chromosome. Mutations affect a genes’ function.
12... Classic chromosome mutations:
Translocation: Part of chromosome breaks-off and reattaches to another chromosome
Inversion: Part of a chromosomes information is reverse of it’s usual direction.
Duplication: A segment of a chromosome is repeated.
Nondisjuction: A whole chromosome is duplicated or it can be completely deleted.
(Example: Downs Syndrome. Result in having an extra 21st chromosome.)
Deletion: Part of a chromosome is completely lost. Deleted.
13..Ivey has part of her 21st chromosome deleted.
Homework: Just look at the pictures!!
http://www.accessexcellence.org/RC/VL/GG/human.html
http://learn.genetics.utah.edu/units/disorders/karyotype/whatarechrom.cfm
http://www.pharmgkb.org/search/browse/chromosomes.jsp
This one is important to Ivey:
http://www.pharmgkb.org/do/serve?objCls=Chromosome&objId=PA502
9.02.2006
Chromosome 21q Partial Deletion Syndrome
"What?"
I have thrown this title out to you before and given you the general description. Maybe I should try to explain exactly what we have learned about chromosome 21q partial deletion syndrome and symptoms of Ivey's genetic disposition.
When Matt heard this term, he said exactly what you thought. "What?" Keep in mind, Matt was a business major at Georgia. He remains calm and takes in everything.
When I heard this term, my mind went reeling in a completely different direction. I instantly threw myself back into my Genetics class and Medical Terminology, trying to recall pages of genetic syndromes and locate prefixes, suffixes and rootwords. I have found myself doing this very same thing on numerous occasions throughout this journey with Ivey. I have discovered that my background has been both beneficial and almost lethal at times.
My major was Biology with a minor in Chemistry. Somewhere along the way, I tacked on a teaching certificate because I wanted others to love Biology as much as I do. I know it is a scary thought. You’re looking at a girl who moved a bug collection when she got married. I always spent extra time on Genetics when I was teaching. It is my favorite area. I had students doing Punnett squares until they could see them in their sleep. We did labs where they 'reproduced' and determined the phenotypes of their children. (What their kids might look like.) We studied genotypes. (Their genetic makeup.) Be certain that much explanation went into these labs, so that parents did NOT get the wrong idea. I have missed teaching, labs and my subject. But now, all of a sudden, I have been studying my 'subject' unlike I ever did in college or in preparation for my students.
It has been most frustrating to speak with doctor after doctor, and none are able to give us a specific expectancy for Ivey. They can explain the known symptoms of her syndrome; unfortunately, there is more that is unknown. Unknown is okay. The scientist in me knows, "That's just how it is". This is a positive attribute. The mom in me wants answers and NOW. While we were still in the NICU, Matt told me one day as I was going to see Ivey, "You have to lay off of Dr. Laura today". I had no idea what he was talking about. Now, I know. Everyday that she walked in the room, I started asking questions. She would answer me. I would ask the same question, this time in a different format. She would answer me again. This went on and on. I thought that eventually I would ask the same question, in a different way, until she gave me the answer I wanted. I needed her to tell me something different from what I learned. I feel sorry for our pediatrician, Dr. Rogers; I still do this to him on a weekly basis. I just can't help it.
I see that I am rambling here. Sorry.
There are so many things I could tell you about Ivey. First, I want to tell you what we have learned about her syndrome. Throughout this journey, I have searched for information about her. I want to understand and know how to plan our path with her. There is almost no information available about this specific diagnosis; however, I can find information about individual symptoms of her syndrome. Ivey's syndrome is so very rare.
When we met with the Geneticist, I asked her for the case study on children that have been documented with a chromosome 21q partial deletion. She was very skeptical about giving me a copy since each case is so specific to the individual. No one baby has had the exact same symptoms with this particular syndrome. She did not want us to assume the worst fate for our daughter. Even with the most common genetic abnormalities, this should be a standard practice by doctors. Each case is unique. Expectations verses the actual reality of a genetic disability are two completely separate issues. If you have met someone with a more common genetic syndrome such as Downs Syndrome, then you know there are varying levels of 'retardation'. If you have children, you understand this. Do any of your children look exactly alike, even though they come from the same genetic pool? Or, do you look exactly like any of your siblings? No.
Ivey is unique to her syndrome. For example, all children that we know of with this particular syndrome have malformations of their brains. Ivey does not have these malformations, her brain has all of its parts and they are formed. (As far a we can tell.) Genetically, she has the information for her brain to be there. There is no way to know why she is an exception. There is also no means to know if she will have a better outcome from that of other babies with chromosome 21q partial deletion syndrome. Our geneticist did the right thing; she did not give me the case study. We do not have a pre-determined notion for the worst or best outcome for Ivey.
My goal, outside of raising three incredible children, is to help other parents with children who have fallen - no, risen - to this syndrome. Maybe there is an underlying purpose to my passion after all. I can teach again. Our family can be a wealth of information to other families enduring this same fate. I want to be an advocate for Ivey and other families embarking in life with a rare special needs child.
Just as importantly, I want our family and friends to understand Ivey. Isn't there a quote that says something about fearing what you don't understand? I know our family and friends would never 'fear' Ivey, but realistically, there is a 'fearful' emotion that sweeps through you if you have questions or doubts.
At this moment, Ivey's physical challenges are more apparent. Most children have not been exposed to feeding tubes, apnea monitors, cleft lips or conformers. They want to know about things they see that are different. I would too if I didn't know what they were. Down the road, Ivey’s mental challenges may be more apparent. We will not know the extent. My hopes are to help educate family and friends about Ivey's condition also. If our children ask questions, we will have the knowledge to answer them frankly and honestly.
I live with two toddlers who are Curious Georges. Children are very observant and love to ask questions, don't ever discourage that drive in them. I can't remember if I ever posted this, but Knox made a great observation about Ivey once he saw her in the NICU. He curtly said, "Mommy, Ivey needs another hole in her nose. I am going to tell the doctor to fix it". And that is exactly what he did. With Ivey's cleft lip, her nostril is pulled flat, thus only one hole in her nose. For my friends, if your children ask questions don't ever feel embarrassed or give them 'the look'! Encourage them to ask more questions! Children tend to be more accepting than adults. Let them become comfortable and knowledgeable of Ivey and her condition. These babies will grow-up with Knox, Walker, and Ivey. I want them to understand and accept Ivey and respect the life that Knox and Walker lead.
So, get your thinking caps on, in the next few updates we will begin lessons on chromosome 21q partial deletion syndrome. I will not jump ahead and assume you remember everything from your last Biology class. We will have a little review. It's an open forum. Questions are encouraged. If you have a question, more than likely someone else has the same unanswered question. Hopefully, if you know anyone who has a genetic challenge, especially chromosome 21q partial deletion, you will pass this along.
Gwen
Our family has been very blessed to have a child with a challenge. God is watching over us. Like I have said before, it was FAITH meeting FATE the day Ivey was born. How special our family must be in His eyes. How many of us get the chance to truly test our Faith?
I have thrown this title out to you before and given you the general description. Maybe I should try to explain exactly what we have learned about chromosome 21q partial deletion syndrome and symptoms of Ivey's genetic disposition.
When Matt heard this term, he said exactly what you thought. "What?" Keep in mind, Matt was a business major at Georgia. He remains calm and takes in everything.
When I heard this term, my mind went reeling in a completely different direction. I instantly threw myself back into my Genetics class and Medical Terminology, trying to recall pages of genetic syndromes and locate prefixes, suffixes and rootwords. I have found myself doing this very same thing on numerous occasions throughout this journey with Ivey. I have discovered that my background has been both beneficial and almost lethal at times.
My major was Biology with a minor in Chemistry. Somewhere along the way, I tacked on a teaching certificate because I wanted others to love Biology as much as I do. I know it is a scary thought. You’re looking at a girl who moved a bug collection when she got married. I always spent extra time on Genetics when I was teaching. It is my favorite area. I had students doing Punnett squares until they could see them in their sleep. We did labs where they 'reproduced' and determined the phenotypes of their children. (What their kids might look like.) We studied genotypes. (Their genetic makeup.) Be certain that much explanation went into these labs, so that parents did NOT get the wrong idea. I have missed teaching, labs and my subject. But now, all of a sudden, I have been studying my 'subject' unlike I ever did in college or in preparation for my students.
It has been most frustrating to speak with doctor after doctor, and none are able to give us a specific expectancy for Ivey. They can explain the known symptoms of her syndrome; unfortunately, there is more that is unknown. Unknown is okay. The scientist in me knows, "That's just how it is". This is a positive attribute. The mom in me wants answers and NOW. While we were still in the NICU, Matt told me one day as I was going to see Ivey, "You have to lay off of Dr. Laura today". I had no idea what he was talking about. Now, I know. Everyday that she walked in the room, I started asking questions. She would answer me. I would ask the same question, this time in a different format. She would answer me again. This went on and on. I thought that eventually I would ask the same question, in a different way, until she gave me the answer I wanted. I needed her to tell me something different from what I learned. I feel sorry for our pediatrician, Dr. Rogers; I still do this to him on a weekly basis. I just can't help it.
I see that I am rambling here. Sorry.
There are so many things I could tell you about Ivey. First, I want to tell you what we have learned about her syndrome. Throughout this journey, I have searched for information about her. I want to understand and know how to plan our path with her. There is almost no information available about this specific diagnosis; however, I can find information about individual symptoms of her syndrome. Ivey's syndrome is so very rare.
When we met with the Geneticist, I asked her for the case study on children that have been documented with a chromosome 21q partial deletion. She was very skeptical about giving me a copy since each case is so specific to the individual. No one baby has had the exact same symptoms with this particular syndrome. She did not want us to assume the worst fate for our daughter. Even with the most common genetic abnormalities, this should be a standard practice by doctors. Each case is unique. Expectations verses the actual reality of a genetic disability are two completely separate issues. If you have met someone with a more common genetic syndrome such as Downs Syndrome, then you know there are varying levels of 'retardation'. If you have children, you understand this. Do any of your children look exactly alike, even though they come from the same genetic pool? Or, do you look exactly like any of your siblings? No.
Ivey is unique to her syndrome. For example, all children that we know of with this particular syndrome have malformations of their brains. Ivey does not have these malformations, her brain has all of its parts and they are formed. (As far a we can tell.) Genetically, she has the information for her brain to be there. There is no way to know why she is an exception. There is also no means to know if she will have a better outcome from that of other babies with chromosome 21q partial deletion syndrome. Our geneticist did the right thing; she did not give me the case study. We do not have a pre-determined notion for the worst or best outcome for Ivey.
My goal, outside of raising three incredible children, is to help other parents with children who have fallen - no, risen - to this syndrome. Maybe there is an underlying purpose to my passion after all. I can teach again. Our family can be a wealth of information to other families enduring this same fate. I want to be an advocate for Ivey and other families embarking in life with a rare special needs child.
Just as importantly, I want our family and friends to understand Ivey. Isn't there a quote that says something about fearing what you don't understand? I know our family and friends would never 'fear' Ivey, but realistically, there is a 'fearful' emotion that sweeps through you if you have questions or doubts.
At this moment, Ivey's physical challenges are more apparent. Most children have not been exposed to feeding tubes, apnea monitors, cleft lips or conformers. They want to know about things they see that are different. I would too if I didn't know what they were. Down the road, Ivey’s mental challenges may be more apparent. We will not know the extent. My hopes are to help educate family and friends about Ivey's condition also. If our children ask questions, we will have the knowledge to answer them frankly and honestly.
I live with two toddlers who are Curious Georges. Children are very observant and love to ask questions, don't ever discourage that drive in them. I can't remember if I ever posted this, but Knox made a great observation about Ivey once he saw her in the NICU. He curtly said, "Mommy, Ivey needs another hole in her nose. I am going to tell the doctor to fix it". And that is exactly what he did. With Ivey's cleft lip, her nostril is pulled flat, thus only one hole in her nose. For my friends, if your children ask questions don't ever feel embarrassed or give them 'the look'! Encourage them to ask more questions! Children tend to be more accepting than adults. Let them become comfortable and knowledgeable of Ivey and her condition. These babies will grow-up with Knox, Walker, and Ivey. I want them to understand and accept Ivey and respect the life that Knox and Walker lead.
So, get your thinking caps on, in the next few updates we will begin lessons on chromosome 21q partial deletion syndrome. I will not jump ahead and assume you remember everything from your last Biology class. We will have a little review. It's an open forum. Questions are encouraged. If you have a question, more than likely someone else has the same unanswered question. Hopefully, if you know anyone who has a genetic challenge, especially chromosome 21q partial deletion, you will pass this along.
Gwen
Our family has been very blessed to have a child with a challenge. God is watching over us. Like I have said before, it was FAITH meeting FATE the day Ivey was born. How special our family must be in His eyes. How many of us get the chance to truly test our Faith?
Go Dawgs!
Like clockwork, discussion of 'The Game' began at the breakfast table this morning. On cue, Knox and Walker struck into 'Glory, Glory to ole Georgia'.........
It's amazing what 11 guys dressed in red and black can do to a guy.
Anyway, if you are a Georgia fan or if you know Matt, you will appreciate this.
Matt: "We can't go to the game today guys. We will watch it on TV."
Knox: Emphatically. "No Daddy, I waaaant to go the Geooorgia game."
Matt: Big sigh. "We will watch it on TV today."
Knox: "But Daddy, I want to go to THAT PARTY!"
We couldn't help but to laugh. Our future is clear, we are doomed. But, Matt had a look of utter pride.
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