We got Lucca's test results back from his Gastric Emptying Scan and he definitely has pretty bad delayed gastric emptying.. I was right!! So we started him on the antibiotic Erythromycin last Friday (which is the medicine with the side effects of moving food contents through a little quicker).. so far so good!!! He has had a few little "refluxes" where the food comes back into his mouth but he has been able to swallow it back down and no BIG refluxes! He is already starting to look thicker and healthier! We are really hoping this is the answer to our prayers and this past week has hopefully been a preview of what the future will hold :)
Also, Paw-Paw has taught Lucca how to "hit and kick" over the past few months.. not a good thing, I know... but it just kinda came about and now Lucca does it repetitively when we do certain exercises and games.. It is so hilarious and cute that we can't resist doing it :) Here is a VERY CUTE video of Lucca and Paw-Paw playing together.. they just LOVE each other so much :)
Showing posts with label test results. Show all posts
Showing posts with label test results. Show all posts
Saturday, February 19, 2011
Monday, February 7, 2011
Lucca's Scan and Info for Thought
Today we went in at 7am to have Lucca's Nuclear Medicine Gastric Emptying Scan. This test was going to tell us if Lucca's stomach is having trouble emptying properly, which would explain why food is staying in his stomach so long and coming up un-digested hours after he eats. This is a test he would have to have done before we even went ahead with the surgery (if that is what we chose to do).
My lil guy was so good and fell asleep on the table :)
I found an article on a website last week, thanks to my dear friend Tricia who sent me the site, talking about how "Motility Disorders are commonly mistaken for reflux in infants." So of course that caught my eye.. It had a chart on the page comparing symptoms of Reflux and symptoms of Delayed Gastric Emptying:
(I will put in red the ones that Lucca has or exhibits)
Reflux
Passive Regurgitation (spit up)
Occasional vomiting (1x a day)
Regurgitation during/after feedings
Irritability during and after feeding
Nausea unusual
Gagging and choking are rare
Pain in throat and chest
Food aversion or refusal
Wet burps or hiccups
Failure to thrive (uncommon)
Malnutrition/dehydration (unusual)
Bloating unusual
Respiratory symptoms such as cough, hoarse voice, choronic ear/sinus infections, aspiration, apnea, etc.
Delayed Gastric Emptying
Forceful vomiting, sometimes projectile (sometimes)
Frequent vomiting (2x a day or more)
Vomiting at any time of the day, long after feedings
Iritability at any time of the day
Nausea common
Retching and gagging are common
Pain usually in the belly and intestines
Food aversion or refusal
Excessive burping
Failure to thrive (more common)
Malnutrition/dehydration
Bloating common
Respiratory problems such as cough, hoarse voice, chronic ear/sinus infections, aspiration, apnea, etc.
So is it just me, or does everyone see more red under the delayed gastric empyting column??? And then if that wasn't enough to get you wondering, the next page says this:
"If your child has been diagnosed with reflux but you suspect that he may actually have a motility problem of the esophagus, stomach or small intestine, the following criteria may help you decide if your child needs motility testing: (again I will mark in red the ones Lucca has)
* Reflux medications (such as Prevasid, Prilosec, Nexium, etc) have not improved symptoms.. DING DING DING!!
* Spitting up persists past the age of 12 months
* Vomiting or retching occurs more than once a day, every day
* Vomiting is forceful or projectile on a regular basis
* Vomit contains undigested food from many hours earlier
* Choking or gagging occurs frequently
* Constant, frequent or persistent abdominal pain
* Bloating occurs daily
* Diarrhea occurs daily, especially with paleness or sweating
* Failure to thrive, dehydration or malnutrition have been diagnosed"
So this was enough info for me to bring it to the doctor's attention, who agreed, that Lucca may have this "Delayed Gastric Emptying Disorder, which could actually be the source of his reflux.. So today's test was supposed to show if indeed he has an issue "emptying" his stomach.
He had to fast for 8 hours ( so he hadn't had anything to eat since 8 last night) and when we got there they came him a scrambled egg mixed with the radioactive material.. he started eating it ok, and then started gagging and didn't want anymore of it, so he washed it down with a little SILK and that was his breakfast... we were so worried that this was an all day thing and he was going to be so hungry and cranky because that is all he could eat for the entire duration of the study. The first hour they took pictures every ten minutes. After each picture it looked like his stomach was emptying so quickly, which we couldn't believe because he is constantly throwing up undigested food hours after he eats! but by the end of the first hour Lucca's stomach still wasn't emptied 50 percent so we had to go into the second hour where they would take pictures every 20 minutes. Lucca was such a good boy and was giggling and layed so still when they took his pictures. After the first pictures in the second hour he fell fast asleep and slept on the table the rest of the procedure :) He was so precious! At the end of the second hour the tech told us that he definitely has a delay in emptying and that his GI doctor would call me with the specifics. We are actually kinda excited about this because this can be treated with medicine (Erythromyecin) which should make the food contents flow through quicker and in turn hopefully get more food past his stomach and less coming back up.. and this means HOPEFULLY NO SURGERY!! So right now this is looking good for us and for Lucca :) We don't want to have to do surgery!
My lil guy was so good and fell asleep on the table :)
Saturday, January 29, 2011
Update
Just a little update on what's been going on with Lucca these past few weeks...
A year ago he had an ultrasound done of his stomach because he was having alot of bloating and cramping, so they were looking for bowel obstructions/abnormalities.. Everything turned out ok, but as a fluke they found that his left kidney had some fluid on it. Nothing to be TOO concerned about but his doctors wanted us to get a follow up just to make sure it wasn't something small like he had to pee really bad and the fluid was just backed up.. So we had the follow-up done of just his kidneys and it showed that his left kidney has more fluid than the last one done, and his bladder was completely empty so we know it wasn't because he had to pee. The pediatric radiologist recommended that he have a procedure called a V.C.U.G. done (where they stick a catheter through his urethra into his bladder and inject contrast into his bladder to see if any urine is refluxing back up into his kidneys causing the fluid). Can you say PAINFUL!? Well we had that done yesterday and my big boy didn't cry AT ALL! He didn't even flinch! He did SO good that after the procedure was done the radiologist asked if I had given him medication to relax! lol She said she has NEVER had a kid be so good and not even cry! Such a big boy :) Well the test showed that there is NO reflux going back up into his kidneys, so that is GREAT news! Now we just don't know what is causing it.. lol But the fact that it isn't reflux and there aren't any stones is great.
Now the reflux... the devil that has been haunting my poor lil guy since birth... We have had Lucca on two of the strongest reflux medications out there that he is allowed to be on, and while they work slightly for a little bit, it's almost like his body becomes immune to them and they don't even begin to touch his puking.. His throat is so raw and he is constantly making weird noises that you can tell is because his throat burns :( I hate it! He can't keep anything down (fluids or solids), EVERY time he burps something comes up, even if it is HOURS later.. for example: he eats dinner around 6:30-7:00. The other morning around 3am he burped and stuff came up.. alot of times it isn't even digested. Stuff comes up while he is just sitting doing nothing. The sphincter where his esophagus and stomach meet doesn't work properly so it allows food to come back up just as easily as it goes down. It sucks. It is definitely hindering him physically because anytime he rolls onto his stomach or sits and it is putting pressure onto his stomach, stuff comes up.. all day every day.
So last year after Lucca had his endoscopy and everything came back with no abnormalities except his sphincter and that he just has severe reflux , the doctor recommended a surgery: Nissen Fundoplication. (where they take the top portion of his stomach and sew it around the bottom portion of his esophagus) Of course back then we were like, "heck no! if it is just severe reflux then he will grow out of it." Well, one year and ONE pound later...he hasn't grown out of it. Soo.. knowing this his reflux is possibly a trait of his condition, we aren't sure if he is ever going to grow out of it.. We decided to make an appointment with that GI doctor to discuss some other options on how to help him. Do I want him to have surgery? Of course not. What mom wants their kids to have surgery?! But we are starting to think that this might be the only thing that cures him of the constant throwing up. If it wasn't hindering his growth and his physical development it wouldn't be an issue..but it is. And his poor throat is so raw!
Anyway, this is where we are right now.. Appt on Monday to talk about possible options and to find out more information about this surgery. Will keep everyone updated on what we find out! Please keep us and Lucca in your prayers as this is a HUGE decision for us to make. I'm scared to make the wrong one..
A year ago he had an ultrasound done of his stomach because he was having alot of bloating and cramping, so they were looking for bowel obstructions/abnormalities.. Everything turned out ok, but as a fluke they found that his left kidney had some fluid on it. Nothing to be TOO concerned about but his doctors wanted us to get a follow up just to make sure it wasn't something small like he had to pee really bad and the fluid was just backed up.. So we had the follow-up done of just his kidneys and it showed that his left kidney has more fluid than the last one done, and his bladder was completely empty so we know it wasn't because he had to pee. The pediatric radiologist recommended that he have a procedure called a V.C.U.G. done (where they stick a catheter through his urethra into his bladder and inject contrast into his bladder to see if any urine is refluxing back up into his kidneys causing the fluid). Can you say PAINFUL!? Well we had that done yesterday and my big boy didn't cry AT ALL! He didn't even flinch! He did SO good that after the procedure was done the radiologist asked if I had given him medication to relax! lol She said she has NEVER had a kid be so good and not even cry! Such a big boy :) Well the test showed that there is NO reflux going back up into his kidneys, so that is GREAT news! Now we just don't know what is causing it.. lol But the fact that it isn't reflux and there aren't any stones is great.
Now the reflux... the devil that has been haunting my poor lil guy since birth... We have had Lucca on two of the strongest reflux medications out there that he is allowed to be on, and while they work slightly for a little bit, it's almost like his body becomes immune to them and they don't even begin to touch his puking.. His throat is so raw and he is constantly making weird noises that you can tell is because his throat burns :( I hate it! He can't keep anything down (fluids or solids), EVERY time he burps something comes up, even if it is HOURS later.. for example: he eats dinner around 6:30-7:00. The other morning around 3am he burped and stuff came up.. alot of times it isn't even digested. Stuff comes up while he is just sitting doing nothing. The sphincter where his esophagus and stomach meet doesn't work properly so it allows food to come back up just as easily as it goes down. It sucks. It is definitely hindering him physically because anytime he rolls onto his stomach or sits and it is putting pressure onto his stomach, stuff comes up.. all day every day.
So last year after Lucca had his endoscopy and everything came back with no abnormalities except his sphincter and that he just has severe reflux , the doctor recommended a surgery: Nissen Fundoplication. (where they take the top portion of his stomach and sew it around the bottom portion of his esophagus) Of course back then we were like, "heck no! if it is just severe reflux then he will grow out of it." Well, one year and ONE pound later...he hasn't grown out of it. Soo.. knowing this his reflux is possibly a trait of his condition, we aren't sure if he is ever going to grow out of it.. We decided to make an appointment with that GI doctor to discuss some other options on how to help him. Do I want him to have surgery? Of course not. What mom wants their kids to have surgery?! But we are starting to think that this might be the only thing that cures him of the constant throwing up. If it wasn't hindering his growth and his physical development it wouldn't be an issue..but it is. And his poor throat is so raw!
Anyway, this is where we are right now.. Appt on Monday to talk about possible options and to find out more information about this surgery. Will keep everyone updated on what we find out! Please keep us and Lucca in your prayers as this is a HUGE decision for us to make. I'm scared to make the wrong one..
Wednesday, November 10, 2010
Just when you think....
Just a little recap of what has been going on...
We have been waiting for Lucca's "specific" bloodwork results to come back which were supposed to tell us (and the doctor of course) exactly where the "additional piece of material" was attaced on Lucca's 22nd chromosome... so we have been waiting..and waiting...and waiting... we were originally told they would take about a month....when that month was up, we were told another week... that was last week. So.. like any worried mother would do, I called to check on the status of the bloodwork, to which I was told "it isnt back yet". To which I said "Man I can't believe this has taken almost 2 months to come back..." and the response I got.." Um Maam, 2 months is not that long of a wait, we have stuff that takes even longer to get back so I can assure you that you have not waited that long.." OOOOHHHH I almost BLEW up!! I so had to catch myself and breeeeathe.. Anyway, after that lovely conversation on Monday, the nurse called me Tuesday to let me know the results had come in and that she was going to fax them to the genetic Dr. I asked her if she could tell me the results and she told me she couldn't over the phone...Later that day she called and told me that I could call Dr. Perszyk's office and they would be able to tell me the results...NOPE, they said the same thing.. So today after work, I took it upon myself to go up to Nemours in PERSON so they couldn't tell me no.. I left with results in hand.. :)
Now that I know Dr. Perszyk has them, I am just waiting for him to call me and explain them and hopefully what it entails, because I can't understand all that jibberish talk. The part I CAN understand and that is plain as day is the diagnosis... It is all kinda strange and that is why I cant wait for the doctor to call because I don't know if these are Lucca's results or not, but some things about it make me think it is....so HURRY UP AND CALL ME DR PERSZYK!! PLEASE!!
Anyway, the diagnosis says that Lucca actually has a deletion on 22, not a duplication like the original said, and wait...that's not the only thing going on like we thought...he also has a duplication on the 1st chromosome AND a duplication on the 10th! Really..really?! it also says that because of these type of results that it most likely came from one of the parents, so basically right now I feel like, great...its because of me that my son is having to go through and deal with this.. because of mine or Randy's defective genes, he is going to have to struggle.. I kinda hope that they got this bloodwork mixed up with someone elses because all of this just blows my mind! The reason I don't think it is mixed up is because the area where it says he has the deletion (22q13.3) is the EXACT area where the 1st test said he had the extra piece of material... I am really trying not to read into this and jump to conclusions, I am just so scared and how can you help but not think the worst? I also have a feeling that they are going to do another bloodtest... *sigh* Just when you think the test you are waiting on is going to give you all the answers, it only gets more complicated... I just really hope all of this doesn't mean anything worse for my little Lucca Man.
We have been waiting for Lucca's "specific" bloodwork results to come back which were supposed to tell us (and the doctor of course) exactly where the "additional piece of material" was attaced on Lucca's 22nd chromosome... so we have been waiting..and waiting...and waiting... we were originally told they would take about a month....when that month was up, we were told another week... that was last week. So.. like any worried mother would do, I called to check on the status of the bloodwork, to which I was told "it isnt back yet". To which I said "Man I can't believe this has taken almost 2 months to come back..." and the response I got.." Um Maam, 2 months is not that long of a wait, we have stuff that takes even longer to get back so I can assure you that you have not waited that long.." OOOOHHHH I almost BLEW up!! I so had to catch myself and breeeeathe.. Anyway, after that lovely conversation on Monday, the nurse called me Tuesday to let me know the results had come in and that she was going to fax them to the genetic Dr. I asked her if she could tell me the results and she told me she couldn't over the phone...Later that day she called and told me that I could call Dr. Perszyk's office and they would be able to tell me the results...NOPE, they said the same thing.. So today after work, I took it upon myself to go up to Nemours in PERSON so they couldn't tell me no.. I left with results in hand.. :)
Now that I know Dr. Perszyk has them, I am just waiting for him to call me and explain them and hopefully what it entails, because I can't understand all that jibberish talk. The part I CAN understand and that is plain as day is the diagnosis... It is all kinda strange and that is why I cant wait for the doctor to call because I don't know if these are Lucca's results or not, but some things about it make me think it is....so HURRY UP AND CALL ME DR PERSZYK!! PLEASE!!
Anyway, the diagnosis says that Lucca actually has a deletion on 22, not a duplication like the original said, and wait...that's not the only thing going on like we thought...he also has a duplication on the 1st chromosome AND a duplication on the 10th! Really..really?! it also says that because of these type of results that it most likely came from one of the parents, so basically right now I feel like, great...its because of me that my son is having to go through and deal with this.. because of mine or Randy's defective genes, he is going to have to struggle.. I kinda hope that they got this bloodwork mixed up with someone elses because all of this just blows my mind! The reason I don't think it is mixed up is because the area where it says he has the deletion (22q13.3) is the EXACT area where the 1st test said he had the extra piece of material... I am really trying not to read into this and jump to conclusions, I am just so scared and how can you help but not think the worst? I also have a feeling that they are going to do another bloodtest... *sigh* Just when you think the test you are waiting on is going to give you all the answers, it only gets more complicated... I just really hope all of this doesn't mean anything worse for my little Lucca Man.
Thursday, October 28, 2010
Lucca's Genetic Appt
Today was the LONG awaited appt with Lucca's Geneticist, Dr. Perszyk...whom I absolutely LOVE after today! He has such AWESOME bed-side manner and seems to really lay it out there pretty straight-forward for you.
Our last visit with the neurologist we had a "more specific" type of bloodwork drawn to basically tell us more information about what is going on on Lucca's chromosome 22. They told me that the bloodwork would be back in PLENTY of time for the genetic appt. When I called on Tuesday they told me it wasn't back yet and it would be at LEAST another week... Another week?! what happened to the plenty of time before the appt??? So of course this made me worry that the doctor would not have enough information to go on today, to be able to tell us what we were wanting to know....what is the future outcome, what does this mean, etc? I had faxed over Lucca's previous bloodwork to him a few weeks ago so he would hopefully be able to look it over and have some idea of what was going on BEFORE our actualappt.. My biggest fear was that after waiting over 3 months for this appt that we were going to to in and him say "well since I am just meeting him I will need to go research the results and see you back in a few months to discuss"..
So...the bloodwork obviously did not come back yet.. we go to the appt and he says "well unfortuantely I really need the results of that more specific bloodwork to be able to tell you exactly what is going on. This previous bloodtest just tells us that he has an extra piece of material on the long end of chromosome 22.. but i need to know exactly where, how long or short it is, which genes it is located between, etc. " ahhhhh just what I was afraid of :( So we have an appointment with him in February...but he DID say that when the results do come in to have them faxed to his office and he will research and get everything put together and give me a call to say what he knows.. and THEN he will have me and Randy get bloodwork done because he will know exactly what to test for..
What we DID find out:...
Lucca had an MRI of his brain back in July... Our neurologist told us at the last visit that everything looked fine that there was just a little bit of extra fluid around his brain... So I happened to mention to Dr. Perszyk today that Lucca had an MRI and everything came back normal, but it still seems to us that he doesn't really understand what we are saying to him, and it is almost like his brain isn't sending signals to the rest of his body to do certain things, (ie pull up, clap, crawl, walk, move in a certain way..) like his body is physically capable of doing certain things, but its like his brain isnt sending the signal to move his leg, or pull up or move a certain way and he would crawl,etc. So he asked if the results of the MRI mentioned anything about mylenation (sp). Luckily I had the results in my purse and let him read it...he says"well right here it says that his brain is only partially mylenated, so basically his brain isnt fully developed, so his brain is probably trying to send the signals, but they arent going fast enough to make it to the other parts of his body... Usually by age 1 the brain is fully mylenated and thats how they know to crawl, walk and do certain things because their brain is sending the signals to do so... his isn't fully mylenated yet like it should be, so hopefully when it does get fully mylenated (which he thinks in around 6 months...hopefully!) that this brain will start sending those signals..." HOPEFULLY HE IS RIGHT!
Where we are right now...
basically waiting for the bloodwork results to come back so they can be faxed to Dr. Perszyk and he can research and put together a chart that tells us exactly where and what is going on with his 22nd chromosome. Then Randy & I can get specific bloodwork done to tell if one of us carry that gene.. Lucca has an eye appt in the morning to make sure everything is going on ok there. I will update more as soon as I get more.. Hoping the bloodwork actaully comes back next week like they are now saying. And HOPEFULLY, if the Dr is right about the mylenation finishing up within the next 6 months or so, Lucca will start trying to crawl and walk! And we are HOPING that along with is, his cognitive development will improve as well :)
Our last visit with the neurologist we had a "more specific" type of bloodwork drawn to basically tell us more information about what is going on on Lucca's chromosome 22. They told me that the bloodwork would be back in PLENTY of time for the genetic appt. When I called on Tuesday they told me it wasn't back yet and it would be at LEAST another week... Another week?! what happened to the plenty of time before the appt??? So of course this made me worry that the doctor would not have enough information to go on today, to be able to tell us what we were wanting to know....what is the future outcome, what does this mean, etc? I had faxed over Lucca's previous bloodwork to him a few weeks ago so he would hopefully be able to look it over and have some idea of what was going on BEFORE our actualappt.. My biggest fear was that after waiting over 3 months for this appt that we were going to to in and him say "well since I am just meeting him I will need to go research the results and see you back in a few months to discuss"..
So...the bloodwork obviously did not come back yet.. we go to the appt and he says "well unfortuantely I really need the results of that more specific bloodwork to be able to tell you exactly what is going on. This previous bloodtest just tells us that he has an extra piece of material on the long end of chromosome 22.. but i need to know exactly where, how long or short it is, which genes it is located between, etc. " ahhhhh just what I was afraid of :( So we have an appointment with him in February...but he DID say that when the results do come in to have them faxed to his office and he will research and get everything put together and give me a call to say what he knows.. and THEN he will have me and Randy get bloodwork done because he will know exactly what to test for..
What we DID find out:...
Lucca had an MRI of his brain back in July... Our neurologist told us at the last visit that everything looked fine that there was just a little bit of extra fluid around his brain... So I happened to mention to Dr. Perszyk today that Lucca had an MRI and everything came back normal, but it still seems to us that he doesn't really understand what we are saying to him, and it is almost like his brain isn't sending signals to the rest of his body to do certain things, (ie pull up, clap, crawl, walk, move in a certain way..) like his body is physically capable of doing certain things, but its like his brain isnt sending the signal to move his leg, or pull up or move a certain way and he would crawl,etc. So he asked if the results of the MRI mentioned anything about mylenation (sp). Luckily I had the results in my purse and let him read it...he says"well right here it says that his brain is only partially mylenated, so basically his brain isnt fully developed, so his brain is probably trying to send the signals, but they arent going fast enough to make it to the other parts of his body... Usually by age 1 the brain is fully mylenated and thats how they know to crawl, walk and do certain things because their brain is sending the signals to do so... his isn't fully mylenated yet like it should be, so hopefully when it does get fully mylenated (which he thinks in around 6 months...hopefully!) that this brain will start sending those signals..." HOPEFULLY HE IS RIGHT!
Where we are right now...
basically waiting for the bloodwork results to come back so they can be faxed to Dr. Perszyk and he can research and put together a chart that tells us exactly where and what is going on with his 22nd chromosome. Then Randy & I can get specific bloodwork done to tell if one of us carry that gene.. Lucca has an eye appt in the morning to make sure everything is going on ok there. I will update more as soon as I get more.. Hoping the bloodwork actaully comes back next week like they are now saying. And HOPEFULLY, if the Dr is right about the mylenation finishing up within the next 6 months or so, Lucca will start trying to crawl and walk! And we are HOPING that along with is, his cognitive development will improve as well :)
Friday, September 24, 2010
Not The News We Were Hoping For...
We had Lucca's follow-up Neuro appt today to go over all the tests that were ordered in June from our first visit. (i.e. bloodwork, chromosome tests, MRI, etc.) We knew that the chromosome test came back abnormal, and he just went over that a little bit saying that it was of extreme concern and was most definitely the cause of his delays, but he didn't know how serious the case or to what extent it would be and that we would have to wait to talk to the genetic doctor next month because obviously that is his specialty... also his MRI came back that he has some extra fluid around his brain between his brain and his skull cap, but not enough to be considered hydrocephalus. He told us that he doesn't think Lucca has any sort of autism because he is such a social baby and smiles, laughs, makes eye contact and plays well.. so thats a good thing =) We asked him if he thought Lucca would ever walk/talk, etc and if he had ever seen any cases before similar to Lucca, how are they now, what are they like,etc.... For the walking/talking he said it was "very hard to say.. he might not.. he might. Hard to tell." And he said he has seen cases like Lucca and "they are very slow progressing, and usually do not catch up to a "normal" level. They are slow their whole life and need constant and special attention. There are some cases where they stop progressing, start regressing, and die at an ealry age." Gee doc thanks, thats exactly what I wanted to hear this morning...ya know? I do not think that Lucca's case is THAT severe..I certainly HOPE and PRAY not anyway. So we have to go get more bloodwork that is more specific to the chromosomes and repeat some bloodwork that came back abnormal last time.. and of course they couldnt get any blood out of either arm this morning so we have to go back this afternoon and try again.. so that's where we are right now..definitely not what I was wanting to hear at this appt but we will go with it and hope for better news at the genetic doc appt. Just please continue to keep us and Lucca in your prayers. =)
Tuesday, July 13, 2010
Bittersweet News
The nurse from Nemours called me today with the rest of Lucca's bloodwork results. His amino acids are normal and some of his urine was questionable, but she said that was probably due to something he ate for breakfast... And lastly, the big one that we have been waiting a month for...His chromosome tests came back abnormal...the very word I was dreading but hoping for at the same time..
The test showed that he has an abnormal piece of material attached to his 22nd chromosome, which could definitely be the cause of all of his delays.. Apparently that chromosome (just from what the nurse told me) really affects that stuff. So now we definitely have to go see a geneticist, and of course that appointment isn't until October 28th... and Randy & I also have to get bloodwork done to test our chromosomes.. They said this particular abnormality could be something that Randy or I, or the combination of our genes, passed on to him. Soooooo, this is where we are right now.. I'm super bummed about the whole thing, because I was really starting to hope and wish that he was really just super behind... and trying to dwell on the positives..which I still am, but it's definitely hard. And then I am also glad that we FINALLY have an answer and a lead to SOMETHING.. just sucks too.. =\ Anyway, please keep Lucca in your prayers! We definitely appreciate it =) I will update as I find out more.
The test showed that he has an abnormal piece of material attached to his 22nd chromosome, which could definitely be the cause of all of his delays.. Apparently that chromosome (just from what the nurse told me) really affects that stuff. So now we definitely have to go see a geneticist, and of course that appointment isn't until October 28th... and Randy & I also have to get bloodwork done to test our chromosomes.. They said this particular abnormality could be something that Randy or I, or the combination of our genes, passed on to him. Soooooo, this is where we are right now.. I'm super bummed about the whole thing, because I was really starting to hope and wish that he was really just super behind... and trying to dwell on the positives..which I still am, but it's definitely hard. And then I am also glad that we FINALLY have an answer and a lead to SOMETHING.. just sucks too.. =\ Anyway, please keep Lucca in your prayers! We definitely appreciate it =) I will update as I find out more.
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