Taken from a different journal........
Post 1
Well I found out WAY more than I had originally anticipated at his appointment. For starters my little monkey gained a whole lb in a week....just one little week (6 days to be exact)
His neck issue wasn't the main issue of the appointment, turns out. He examined him and said basically to just make sure he gets the same amount of time on each side of his head while I am holding him.
So upon examination I noticed he seemed concerned with Brandon's eyes. He kept checking them and going back to them through out the appointment. Brandon is not tracking properly, in other words he should recognize us and follow us but does not. He would not follow DR J or make eye to eye contact w/ him. We (Tony and I) both have noticed this but never brought it up to each other until today). He does not track us properly. He does not follow us w/ his eyes when he walks across the room. So with all that said, he has to see a pediatic specialist that specializes in developmental delays. Still waiting for that appointment.
Also upon examination, this time having to do with stopping breathing, he noticed B has a heart murmur. So we have an appt next week at St Vincent's children's hospital in Indy for an echocardiogram. Also he has to be put on an Apnea monitor to alarm me when B quits breathing. He was also put on Pepcid for reflux to see if that helps. Dr J said sometime reflux can cause babies to stop breathing I mentioned to him the possiblity of floppy larynx and he wants to try this route first.
To boot, Brandon is tongue tied. LIke I said way more information that I wanted to recieve, although I am glad we're finding all this out now and not later. Tony was pretty upset. He is very afraid B will become mentally retarded. I am the one who is actually with peace with all the information this time and he is the one who is pretty upset. Well I need to go get Carmen from school. I do have some questions for you moms, so I'll post more when I return.
post 2
honestly i haven't had time at all today to process the information. i've been the busy business woman today trying to get things straight w/ insurance and appointments. trying to make sure i can get the soonest appointment possible everywhere. turns out the soonest i'll be able to get him seen is possibly in january for the developmental specialist. st v's is scheduled out til march. i just got home from getting carmen and the lady from apria healthcare finally called back and they wanna see B TODAY. so I am leaving again in about 15 minutes to go back to TH to get him on the apnea monitor. I am sure once I settle down for the day it will all hit me and i'll be a basket case. I just haven't had the time to process everything or research anything at all.
post 3
Okay so during the literally 30 minutes I was home this afternoon and updated ya'll I did just a little bit of research. Well my research led me to remember that I tested positive for Trisomy 18. see thread on that http://valleymoms.com/forums/showthread.php?t=15937
So remembering that I tested positive I decided to look at the symptoms again of babies who are born with this genetic disorder. Here is what I have found. Stuff that is bold and underlined are characteristics Brandon exhibits.
Trisomy 18
Quote:
Trisomy 18 or Edward's Syndrome, is the second most common trisomy after Down's Syndrome. Edward's Syndrome occurs when three sets (trisomy) of chromosome 18 occur.
Trisomy 18 is therefore caused by a genetic abnormality occurring before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes - one to contribute to each of the 23 pairs of chromosomes needed to form a healthy, 46 chromosome cell. However, sometimes egg and sperm cells are left with 24 (or more) chromosomes. It is the joining of these egg or sperm cells that eventually cause a trisomy fetus to be formed.
edward syndrome symptoms - a look at the symptoms of trisomy 18
It is this extra genetic information that causes all the trouble for individuals with Edward's Syndrome. As each and every cell in their body contains extra information, its ability to grow and develop appropriately is delayed or confused. This results in characteristic physical abnormalities such as low birth weight; a small, abnormally shaped head; small jaw; small mouth; low-set ears; and clenched fists with overlapping fingers. Those with Edward's syndrome also have heart defects, and other organ malformations such that most systems of the body are affected.
Edward's Syndrome also results in significant developmental delays. For this reason a full-term Edward's syndrome baby may well exhibit the breathing and feeding difficulties of a premature baby. Given time and the assistance regularly offered premature babies, however, some of these infants are able to overcome these initial difficulties.
The survival rate for Edward's Syndrome is still incredibly low. Only 5 - 10% of liveborn infants will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the prognosis of an Edward's Syndrome child during pregnancy or the neonatal period. Some children with Edward's Syndrome develop only a small degree, while others gain many of the skills of their Down's Syndrome peers - walking, talking, attending school, holding down a job, etc. As major medical interventions are routinely withheld from these children, it is also difficult to determine what the survival rate or prognosis would be for the condition if they were treated with the same aggressiveness as their genetically 'normal' peers.
The rate of occurance for Edward's Syndrome is ~ 1:3000 conceptions and 1:6000 livebirths, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Although there is an increased risk of conceiving a child with Edward's Syndrome as a woman's age increases, women in their 20's and 30's still conceive Edward's Syndrome babies.
A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic Edwards syndrome. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after conception. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 18 and often the physical signs of the syndrome differ from the typical Edward's syndrome.
So did I have a major breakdown??? YOU BETCHA!!!
post 4
i can't take it. i am an emotional mess right now. tony is at work.....the kids are wondering why i am crying so much.....i hate it. i just want answers.....i want them now. i don't want to wait for confirmation. every time i look at B i break down. i wish i had someone here to hug me and hold me right now.
post 5
What a long night. Poor Jenny called during my major breakdown. Jenny, I hope I didn't scare you too much. I was having a major moment. Once I pryed myself away from the computer things calmed down for me. I am very OCD, so when something is wrong I tend to research the living shit out of it until I have myself convinced the worst is going to come out of it. Needless to say, I am going back on my meds in hopes to stabalize my moods.
So during all the research I found that you can have a Karyotype test done to check the blood for extra chromosomes. My physicians office told me you can not have a blood test done. So a light bulb just went off in my head this morning. Duh!!! Call your genetic counselor. She'll know for sure. So I called ST V's in INdy and talked with the genetic counselor and told her what I have found out and my concerns and asked what type of testing will they do. The first thing she mentioned is a standard Karyotype blood test. She then procedded to tell me about the other tests they do to test children for Trisomy 18 and birth defects. I feel a little better knowing I may be able to get him in for a blood test and hopefully put my mind at ease sooner than later. So I just called the dr's office again. They probably think I am psychotic by now. I asked for the nurse to call me back regarding this test to see if they'll order it.
While, yes, it is a good thing I stay on top of things when my kids are sick, ect....it's very disturbing too, especially for Tony. I go way overboard, but I can't help it. Seriously, I can't help it......medical condition. So now I am waiting for the nurse to call me back.
Hey val, I am sure you'll read this. Would you mind calling Pastor Tony (if you haven't done so yet) and explaining to him what is going on and ask for prayers for us. If I call I will just end up bawling my eyes out. I am okay typing this, but when I actually talk I end up crying. I would greatly appreciate it. We just need lots and lots of prayers that things will be okay.
post 6
i talked to the nurse and am waiting on a call back about the blood test to see if they'll order it.
post 7
so now we play the waiting game. :(
The nurse called back this morning and had me come to the office to pick up a lab req. I took that to the lab and they drew a cbc, tsh free t-4 (i might be getting these tests out of order so correct me someone) bmp ??? maybe those are the initials anyway they also drew a standard karyotype. the karyotype are the results i want like yesterday. they check for extra chromosomes. well that is the test that takes a week to a week and a half to come back Jenn met me at the lab and helped me out, but I think she had a harder time w/ it than i did I love her so much. god put her in our lives for a reason and i am so very glad he did. she's my angel!!!
so now i have to stay off the cpu (i will be on here and there) in order to keep my sanity for the week. i need to stay off the researching sites. i know what i need to know and reading it over and over again will do nothing to me but depress me deeply. if i think of anything i will research but for now everything is in god's hands. i am just praying for good results. we go monday for his echo and then wed to the doctors for the test results of everything to date.
oh i got an apointment w/ the developmental specialist. JANUARY 23RD I am not too thrilled we have to wait that long. If his test results come back abnormal you can believe I will be on everyone's ass until they get him in sooner (and by sooner i mean w/in a week). they will hate me, but i really don't care. I want what is best for my baby and if that means making all the doctors offices in the whole world hate me then so be it.
please continue to keep brandon and our family in your thoughts and prayers. for now i am going to think positive thoughts.
PLEASE EVERYONE PRAY FOR BRANDON FOR GOOD TEST RESULTS AND QUICK, PAINLESS TESTING.
