3.31.2007
me again today
yesterdays appt if you have had time to read about it, went as well as could be expected, but i am still not happy-this still sucks. (sorry). it just sucks that we have to go through all this when we have already had such a bumpy road. it sucks that libby wasn't born to us and we have to explain how her birthmother chose adoption. it sucks that nathan has a genetic disorder and looks so different. it sucks that we have to go to all these appointments and stress so much when we should be enjoying our kids and each other. it sucks that six of the eight years of our marriage have been such an uphill battle. it sucks that i feel like we don't have a normal family and look longingly at families with 'matching' children. i want to see things in a different way. i want to get past all this, obviously not through it changing miraculously, but through me looking at things differently. otherwise i am going to waste all this time wallowing in self-pity, envy and anger.
sorry it is VERY long-get a drink, get comfy
Here goes my attempt at explaining the outcome of our appointment yesterday. We really got no conclusive news, oh with the exception that he does indeed have teeth in there???? The radiologist showed me all the teeth waiting (for what I don't know) to come down. You couldn't see the two front teeth because she said there is always a lot of bone there, but all the others were there!!!!! Yay what a relief! But you know that only kept me happy for so long.
The appointment went as well as could be expected. Mark didn't cry and I only teared up once so I guess that is a success. Dr. Yan said "wow he has a lot of hair???" He sounded so disappointed (Mark thought so too). Dr. Zackai shuffled down from genetics with her latest sidekick, Alana who could do nothing right in Dr. Zackai's eyes (I felt bad). Liivia came down from genetics. Mark told her he forgot how tall she is and she told us she is 6'1" tall. Anyway, she is from Latvia-I finally asked. All four of them checked out Nathan who was none too pleased with the whole set-up. They said his skin around his neck shows some sclerodermoid skin changes, Dr. Zakai mentioned that the whites of his eyes are a shade darker than they should be (???). Overall they thought his skin looked a little bit better, which Dr. Yan reported was not something he expected to see. And once again he sounded a bit disappointed-poor Dr. Yan. He was so convinced about Progeria. They took more pictures of him for comparison and teaching purposes. They really have a way of inspecting him as if he is a used car. "fingers show increased clubbing"....'tires show signs of wear' I'm not sure if there is a better way.
Anyway, they sent us up to X-rays and we had 30 films taken of Nathan. That is not fun torturing a child like that. I got to do that job and Mark got to do the bloodwork job. I think he got off easy. They took bloodwork to test for iron deficiency and general nutrition. I think similar to the GI doctor's bloodwork.
They seem confused by Nathan and cannot really tell us anything new. The bloodwork came back from Portugal on Thursday and did not indicate that Mark and I are carriers for Pycno. She emailed them back and is waiting for some answers to see if we have been ruled out as carriers. So all we know for sure is that Nathan does not have Classic Progreria and that he has one of the two mutations necessary for a diagnosis of Pycnodystosis. The other mutation may be hidden or he may just be a carrier; however, Liivia believes it is "curious". I asked about Hadju Cheney which is not great either and they said lets just wait for the x-rays to come back. They will call us within the next couple weeks (CHOP time?) after they have been studied to determine changes to his bones. I don't even want to get that telephone call.
Dr. Yan referred us to a cardiologist as a precaution. Many of the syndromes they have suggested have an associated heart condition. They said Acrogeria is still a possibility but only a small percentage of patients with Acrogeria have the gene change associated. It is so frustrating to not know what the potential is for Nathan. That is when I did tear up. Dr. Zackai asked how we were doing with everything. As the four of them stood in a line side by side staring at me, I explained it is difficult to see other children and know how different he looks. It is also difficult to not know what he will be able to do or not do when (if) he gets big. It is also difficult to know if we can have more children because we don't even know what he has yet.
It is hard to verbalize our desire to have another biological child. I don't know about Mark, but I feel horrible even thinking it, because it implies that Libby and Nathan are not good enough. We always wanted three, but I wonder if we would have been satisfied with two if Nathan was "normal" (you know what i mean by normal). Maybe it is wrong to want another child. Seeing Libby's behavior you can tell we are super good at parenting! Is there such thing as the terrible 4's??
I cannot tell you how strange it is to be dealing with disorders in which there is virtually no information and no support groups. There are no one else to look to and say, oh this family did it this way, or this is the typical course.....in a way I want to fast forward to see what he will be like at eighteen, but of course you don't want to wish your life away. I keep assuming he is out of the woods for a fatal disorder, but they really have not confirmed that. Only classic progeria has been ruled out and I can't even get an answer on what that means.
That is all I can think of about our appointment yesterday. We were put in the same exam room as the last time which was an awful feeling. Dr. Yan and Dr. Zackai were almost as impersonal as they seemed when they were giving us bad news six months ago. Dr. Yan wants to see Nathan in six months. So now we are waiting for bloodwork results, x-ray results, scheduling an appt with cardiologist, waiting for sleep study at the end of May, waiting for a GI appt and waiting to hear back from Portugal again.
Hadju Cheney Syndrome http://tinyurl.com/39vvm4
The appointment went as well as could be expected. Mark didn't cry and I only teared up once so I guess that is a success. Dr. Yan said "wow he has a lot of hair???" He sounded so disappointed (Mark thought so too). Dr. Zackai shuffled down from genetics with her latest sidekick, Alana who could do nothing right in Dr. Zackai's eyes (I felt bad). Liivia came down from genetics. Mark told her he forgot how tall she is and she told us she is 6'1" tall. Anyway, she is from Latvia-I finally asked. All four of them checked out Nathan who was none too pleased with the whole set-up. They said his skin around his neck shows some sclerodermoid skin changes, Dr. Zakai mentioned that the whites of his eyes are a shade darker than they should be (???). Overall they thought his skin looked a little bit better, which Dr. Yan reported was not something he expected to see. And once again he sounded a bit disappointed-poor Dr. Yan. He was so convinced about Progeria. They took more pictures of him for comparison and teaching purposes. They really have a way of inspecting him as if he is a used car. "fingers show increased clubbing"....'tires show signs of wear' I'm not sure if there is a better way.
Anyway, they sent us up to X-rays and we had 30 films taken of Nathan. That is not fun torturing a child like that. I got to do that job and Mark got to do the bloodwork job. I think he got off easy. They took bloodwork to test for iron deficiency and general nutrition. I think similar to the GI doctor's bloodwork.
They seem confused by Nathan and cannot really tell us anything new. The bloodwork came back from Portugal on Thursday and did not indicate that Mark and I are carriers for Pycno. She emailed them back and is waiting for some answers to see if we have been ruled out as carriers. So all we know for sure is that Nathan does not have Classic Progreria and that he has one of the two mutations necessary for a diagnosis of Pycnodystosis. The other mutation may be hidden or he may just be a carrier; however, Liivia believes it is "curious". I asked about Hadju Cheney which is not great either and they said lets just wait for the x-rays to come back. They will call us within the next couple weeks (CHOP time?) after they have been studied to determine changes to his bones. I don't even want to get that telephone call.
Dr. Yan referred us to a cardiologist as a precaution. Many of the syndromes they have suggested have an associated heart condition. They said Acrogeria is still a possibility but only a small percentage of patients with Acrogeria have the gene change associated. It is so frustrating to not know what the potential is for Nathan. That is when I did tear up. Dr. Zackai asked how we were doing with everything. As the four of them stood in a line side by side staring at me, I explained it is difficult to see other children and know how different he looks. It is also difficult to not know what he will be able to do or not do when (if) he gets big. It is also difficult to know if we can have more children because we don't even know what he has yet.
It is hard to verbalize our desire to have another biological child. I don't know about Mark, but I feel horrible even thinking it, because it implies that Libby and Nathan are not good enough. We always wanted three, but I wonder if we would have been satisfied with two if Nathan was "normal" (you know what i mean by normal). Maybe it is wrong to want another child. Seeing Libby's behavior you can tell we are super good at parenting! Is there such thing as the terrible 4's??
I cannot tell you how strange it is to be dealing with disorders in which there is virtually no information and no support groups. There are no one else to look to and say, oh this family did it this way, or this is the typical course.....in a way I want to fast forward to see what he will be like at eighteen, but of course you don't want to wish your life away. I keep assuming he is out of the woods for a fatal disorder, but they really have not confirmed that. Only classic progeria has been ruled out and I can't even get an answer on what that means.
That is all I can think of about our appointment yesterday. We were put in the same exam room as the last time which was an awful feeling. Dr. Yan and Dr. Zackai were almost as impersonal as they seemed when they were giving us bad news six months ago. Dr. Yan wants to see Nathan in six months. So now we are waiting for bloodwork results, x-ray results, scheduling an appt with cardiologist, waiting for sleep study at the end of May, waiting for a GI appt and waiting to hear back from Portugal again.
Hadju Cheney Syndrome http://tinyurl.com/39vvm4
3.28.2007
i don't want to goooo!!!!!!
nathan stuck in the lego box--it shows you how small he really is. i was taking pictures for ebay in the same room so don't think i am cruel enough to have left him there while i went to get a camera!
i just don't want to go on friday. not that anything major will be discovered, but i don't want to go hear about all nathan's abnormalities. he is nathan and can't i just bury my head in the sand and pretend he is fine? i asked mark to go by himself, to which he happily agreed, but obviously i would never consider that. for lots of reasons, the least of which would be that he would sum up a four hour appt in two minutes-'yeah it was fine, bloodwork, portugal, Dr. Yan, that's it really' with men you never really get the full scoop.
i just am not looking forward to this appt kicking me down again. how can one appt send me into a tailspin, possibly without learning any new information. someone at work said it well when they said i must always feel like i have to dig deep. that is so true. i am doing that countless times throughout the day, making the decision to dig deep and buck up. I just don't know why i am not dealing well with all this, why i am still having such a hard time and why it still hurts so much. i guess in retrospect i have gotton alot better, but still..
nathan played at the playground today for an hour and a half with his friend Julia (which he now says by the way). he tried to keep up with her and loved going up the steps to the baby slide and down. he didn't even care that he is not strong enough to stay sitting up going down the slide. we need to work on those abs!! it was good to see him out of the stroller trying to do things. he took a couple of steps when forced to and did okay. three and a half hour nap this afternoon, so you know he worked hard!!
i just am not looking forward to this appt kicking me down again. how can one appt send me into a tailspin, possibly without learning any new information. someone at work said it well when they said i must always feel like i have to dig deep. that is so true. i am doing that countless times throughout the day, making the decision to dig deep and buck up. I just don't know why i am not dealing well with all this, why i am still having such a hard time and why it still hurts so much. i guess in retrospect i have gotton alot better, but still..
nathan played at the playground today for an hour and a half with his friend Julia (which he now says by the way). he tried to keep up with her and loved going up the steps to the baby slide and down. he didn't even care that he is not strong enough to stay sitting up going down the slide. we need to work on those abs!! it was good to see him out of the stroller trying to do things. he took a couple of steps when forced to and did okay. three and a half hour nap this afternoon, so you know he worked hard!!
3.24.2007
nathan's 18 month check-up
i took nathan for his 18 month check up yesterday. he is still just 17 pounds, 12 ounces. he is a bit taller, 31 inches to be exact. Dr. Lockman said that is between the 10% and the 25% on the preemie growth chart which is good. at least he is somewhere on some chart. His weight is still not on the charts and his head circumference is tracking at 5%. He checked his ears and his ear infection from last week is better. Three nurses came by to see Nathan and say hi-they heard he was talking and cruising.
Dr. Lockman asked if i was becoming anxious about next weeks appointment at CHOP which was sweet. I am definitely nervous. Regardless of the outcome, it is not fun to sit in a room full of people and discussing each imperfection with no regard that he is your son. Then of course there are interns/residents who sit with eagerness to see this puzzling child with the "novel" gene change. I understand it is how they learn though.
Dr. Lockman asked if i was becoming anxious about next weeks appointment at CHOP which was sweet. I am definitely nervous. Regardless of the outcome, it is not fun to sit in a room full of people and discussing each imperfection with no regard that he is your son. Then of course there are interns/residents who sit with eagerness to see this puzzling child with the "novel" gene change. I understand it is how they learn though.
3.12.2007
irish ent
so i took nathan to see Dr. Callanan, Callahan you say?? no Callanan-he appeared to have come straight from Ireland! He was very sweet, showed genuine interest in Nathan, introduced himself to me etc. Sounds simple, but not always a given with specialists. He checked Nathan out, listened to my concerns about his breathing, asked how to spell Pycnodysostosis (said he would look it up) and deemed Nathan to be "a puzzle." They did a hearing test and Nathan did really well. He does have fluid in his ears. Dr. Callanan recommended not rushing into an adenoidectomy, and especially not a tonsilectomy. He said he definitley is a mouth breather so enlarged adenoids may very well be the case. I inquired about x-rays, but he said you can only really know when you go in to remove them. If they went in and put tubes in his ears for the fluid, they would be able to see the adenoids. He is cautious about doing anything due to Nathan's weight which is good. His recommendation was to get a sleep study done at Temple Univ. to see if he has apnea. Then we will go from there. We called to schedule and the first available appt. is the end of May.
So i am frustrated because now we have to wait ten weeks for the study, a week from then for the results and see Dr. Callanan again for further recommendations. We are now talking June!
I am also frustrated that we had to wait this long for the dermatology appt. I can't imagine that they did not have an appt between Jan. 10 and March 30th. I feel like a hampster on a wheel, with my baby on my hip. I am ready for a toddler. I hope he is walking on his own by summer so we can move out of the baby stage. His teeth (lack of) are really bothering me right now. I will call the dentist to see about scheduling x-rays. I'm not sure why i haven't done it already. I guess the derm. appt isn't really going to hoist him into toddler hood. It will most likely confuse us more. I dread it and anticipate it at the same time. I think I have a touch of PTSD from the 9/11 appt. I've been there since then and i have minor flashbacks of that day. I'm not sure what we are hoping will come out of the appt. I don't know what would be good news...anyway, just trying to anticipate what it will be like. We are already not scheduling anything for that weekend in case we need to hunker down and have a good cry.
So i am frustrated because now we have to wait ten weeks for the study, a week from then for the results and see Dr. Callanan again for further recommendations. We are now talking June!
I am also frustrated that we had to wait this long for the dermatology appt. I can't imagine that they did not have an appt between Jan. 10 and March 30th. I feel like a hampster on a wheel, with my baby on my hip. I am ready for a toddler. I hope he is walking on his own by summer so we can move out of the baby stage. His teeth (lack of) are really bothering me right now. I will call the dentist to see about scheduling x-rays. I'm not sure why i haven't done it already. I guess the derm. appt isn't really going to hoist him into toddler hood. It will most likely confuse us more. I dread it and anticipate it at the same time. I think I have a touch of PTSD from the 9/11 appt. I've been there since then and i have minor flashbacks of that day. I'm not sure what we are hoping will come out of the appt. I don't know what would be good news...anyway, just trying to anticipate what it will be like. We are already not scheduling anything for that weekend in case we need to hunker down and have a good cry.
3.08.2007
a couple of appts.
so I got a couple of appts lined up for Nathan----first is an appt with an ENT for Monday at 9:30am. i'm not even sure i know what i am asking, so i'm a little nervous. next we have an appt for Nathan with his pcp on friday, March 23, 2007 for his something month check-up---I don't know how old he is anymore. i get confused. lastly, we have the appt at CHOP on March 30th, which i am dreading. it is with dermatology, but genetics will also "join" us which means lots of eyes staring at Nathan. hopefully he will be charming! he was rolling a ball back and forth with Mark the other night in between helping me. I was printing and he would hear the printer (at his height), come over, grab the paper, give it to me and scootch back over to Mark to play ball, hear the printer.....over and over. it was hilarious!
the check out girl at the grocery store commented on Nathan's "chubby chipmunk cheeks" I was THRILLED to no end and had a goofy little smile on my face, until..........after I paid, she said bye to him and than said "how old is he, eight months?" she took the wind right out of my sails. i dread summer season with his little twiggly legs sticking out of his shorts, he looks better in long pants and a hat--hey much like myself!!!
the check out girl at the grocery store commented on Nathan's "chubby chipmunk cheeks" I was THRILLED to no end and had a goofy little smile on my face, until..........after I paid, she said bye to him and than said "how old is he, eight months?" she took the wind right out of my sails. i dread summer season with his little twiggly legs sticking out of his shorts, he looks better in long pants and a hat--hey much like myself!!!
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