recheck at GI

I took Nathan to his GI appt. He gained 10 ounces since 9/18/06, not outstanding by any means, but at least it's in the positive direction. He grew 1/2 inch in length. They are keeping him on the same medications, Prevacid and the appetite stimulant and will recheck him in four weeks. We did not see Dr. Kelly this time, but one of his nurse practioners. She was very nice as well and said she has a Nathan who is one month younger than ours. Wonderful to go to a specialist and not have to pay the $40 copay. I did feel a little bit guilty though.

back down again

Nathan had his Modified Barium Swallow Study on Friday. It went fine. He had to drink barium from a bottle and spoon feed a thicker barium while being x-rayed. The results indicated that there were no structural abnormalities. In the words of the doctor, "It shows that everything is going down the right pipe." She did not give him the lumpier textures that he tends to choke on because she said that it is developmentally appropriate for him to be having difficulty with them. Not in terms of his age or adjusted age, but in terms of his abilities. Crawling, changing positions and speech all go hand in hand. So that is good news.

For some reason I am back down again. I don't know why exactly because we have had no more news. Maybe it is that the news of him not having Progeria has worn off. I am just very depressed again and I can't seem to shake it. It is strange how sometimes I have such a positive outlook and good perspective on things and then sometimes I just feel very angry and down. I am back to being discouraged about the ever growing difference between Nathan's development and other children his age. I am back to being frustrated that fourteen months after having him, he is still a baby. I am back to being jealous of pregnant women and kids in stores that are Nathan's age and walking around (not jealous of the kids, their parents). This has taken me all the way back to infertility. It has taken me back to being bitter about our lack of control over building our family and the spacing between our children. All of those choices were taken away and I have such a hard time with that. My pain and anger is deep down and feels like it will never go away. I am 34 years old and I have spent the last five years fighting against the emotional, financial and physical affects of infertility and now Nathan's development. We struggled so much to have children, shouldn't we have at least have had two healthy children? We should not have to face having a child with possible long term developmental delays, dwarfism or worse case scenario, death. Mark always tells me not to say this, but I feel like a big mess. I feel like I can't deal. It hurts that I can't enjoy my marriage, my children, my friends and my family because of all of that is happening. When are we going to be able to breathe. Then after all those feelings, I begin feeling guilty for being such a victim. I should feel blessed with having two beautiful children; however, they came to us. I should be grateful for my wonderful husband, friends and family who support me despite all my imperfections. Now you can understand why I am so tired, with all this going through my head.

Today we have Occupational Therapy and an appointment with the GI doctor for a recheck. I just wonder when we will hear from Portugal. What if it is positive for Pycnodystosis? What if it is negative? I hate not knowing. Today will be seven weeks of waiting.

brief update

Just an update on Nathey. He is still hanging in at about 16 pounds, 8 ounces, so his weight continues to be an issue. We are scheduled to have his Modified Barium Swallow study on Friday at Chop (rescheduled from last friday. Hopefully the weight is due to not having the Prevacid for several days. Insurance wouldn't pay to have it refilled after we overdosed him on it. Mark and I are always looking for an excuse for his weight.

We are no longer going to Theraplay because of the expense. Nathan had a re-evaluation with Early Intervention yesterday and will now be getting Physical Therapy twice a week, Occupational Therapy one time a week and a Teacher once a week. All of these services are at home. I realized that these in-home appts are the reason I am not getting much done around the house. Libby's nap time is the only time I can really accomplish much and several days per week that is consumed by therapy. I have to get her to sleep before the therapist comes or she won't go down and then I miss the nap window. While the therapist is working with Nathan, they require that you sit there too. I am also just trying to remind myself that these appointments are my job right now and not just time away from house projects.

Nothing new on the diagnosis front. Livia left us a message last week that she still had not heard from Portugal. She told us to "hang in there" which I thought was sweet. We were apporoved for medical assistance for Nathan and someone hooked us up with 6 free cases of Pediasure (legally)-Yeah!!!

oh and no more new teeth since the giant eye tooth and he has not pulled to a stand since that one time two weeks ago. He is cruising and looking like he is about to crawl, but he still can't get into any positions. You have to stand him up or lay him on his belly if he is sitting. He does each task well, but just can't do them in sequence. Maybe we should stop doing them for him.

Tooth!!

The boy has his first tooth! He is fourteen months old (I guess only 12 adjusted) and it is an eye tooth, but it is a tooth and is definitely down through. Mark discovered it (I stopped checking long ago). Yeah Nathan!

Weight

I weighed Nathan this morning and he weighed 16 pounds 8 ounces which is what he has been for the last week and a half. We ran out of Prevacid because we were giving it to him twice daily instead of once so he has not had it since wednesday of last week. We are such competent parents! The double dose didn't seem to hurt him though. He has not pulled himself up since last week, but he did "cruise" around a coffee table this weekend. He also did "touchdown" a couple of times (after the Eagles big loss).

Nothing much else new and exciting, just waiting to hear from CHOP about the Pycno.....however it is spelled. He also has his modified barium swallow study on Friday afternoon which should be interesting. Nothing else new and exciting here.

A shout-out (do people still say that?) to our friends Michael and Eileen were nice enough to invite us down to their beach home at LBI for the weekend! We had a great time! It was very relaxing and great to forget about all the anxiety about diagnosis etc. It was just us enjoying our kids. Libby had a great time with her "best friend", Brendan who is almost 18 months. He is very cute and followed her around. She told him all sorts of things and he just listened. He is obviously well on his way to being a good husband.

happy blogging

Just a quick note to let you all know of Nathan's latest accomplishment. This morning he was sitting in his crib playing with toys while I got ready for work. I asked Libby to check on him (more to occupy her than to get an accurate report). She came back and said "he's okay, he's just standin in his crib" I didn't rush right in considering my three year old source, but when I went in, low and behold he was standing, holding onto the crib railing. I don't know how he got himself up on those twiggy little legs, but he did it!!! I was so excited and made Libby clap with me for him. I am so happy to see him doing these things. It is beginning to sink in that he is not going to die. It was hard to believe at first because they were so convinced and he fit the diagnosis to a tee, but bloodwork is about as definitive as you can get. Part of me was waiting for the bottom to drop out again, like it did at the 9/11 appt., but I'm just going to go with this good news. As long as Libby will have a brother that is all I care about right now....and he is standingup!!!

addendum to good news

I just looked up Hajdu Cheney which does not look so good either. It does cover a lot of Nathey's features/symptoms, but it does not account for the skin changes. Also I looked at a child who has it and he does not look like Nathan. Anyway-I considered not broadcasting these latest developments and waiting until we have a final diagnosis for him, but the truth is it may take a very long time to get one. There is also the possibility that we may never know-or that he has something brand new! (In which case my father suggested he'll be famous!) Also I feel like everyone deserves to know what is going on since you are all thinking about and praying for Nathan and our family. It's always nice to have friends and family along when you are on a roller coaster ride of emotions.

Thank you to my mom and dad who came down yesterday, spur of the moment, to be with me in case "the phone call" sent me into a tailspin. Fortunately it was a great phone call, confusing, but great. I wish I would have paid more attention in freshman biology. It came back to bite me in the butt.

Good News! sorry, long

Well-we finally heard from CHOP today-actually, I called them because Livia was back at work. The news is this-Nathan does not have Progeria as they (mostly Dr. Yan) believed that he had. The blookwork came back from Chicago and Nathan's Lamin A gene is normal! We are cautiously optimistic due to their certainty (especially after the biopsy) that he had some type of progeria. It's a bit difficult to be completely relieved about because we and they were so sure about it. It is still the only disorder that accounted for all Nathan's symptoms.

The other two disorders they had considered the day of the genetics appt were Pycnodystostosis (I don't think that is spelled right, but I'm sure none of you mind) and Acrogeria. With Acrogeria, (progeria of the skin/extremities) a gene has not been identified (except in one known case of an individual that had a collegen gene change) Acrogeria is not progressive. From what I can remember, Acrogeria does not account for the wormian bones and the acroosteolysis. Pynodystostosis is also not progressive and has a typical life span. Pycnodystostis does not account for the sclerodermoid skin changes that were confirmed in the biopsy and from what I have read are only associated with Progeria/Acrogeria. I guess (my own assumption) it is possible that he would have two conditions, but as I said I am only speculating. Pycnodystostis is the only other disorder they tested for and the bloodwork was sent to the only lab in the world-to Portugal. We don't know when that will come back. I asked Livia if we have ruled out a progressive disorder, and she said that she is 90% sure we have ruled that out. The other diagnosis they had indicated on the day from "hell" was Hadju Cheney Syndrome which I still have to look into-I don't know anything about it. We are relieved to say the least, but now are anxious to know what Nathan has. All we want at this point is for Nathan to be around for a long time, in whatever capacity that is. Thank you so much for all of prayers as we continue to try to figure out what is wrong with Nathan.

Here is a summary of Nathan's current known symptoms:
plagiocephaly-(just repositioning needed)
failure to thrive
delayed teeth eruption
open posterior fontanelle
wormian bones in lambdoidal sutures (back of head)
reflux
dysmorphic facial features (recessed chin, prominent forehead, prominent eyes, lowset ears, overfold of right ear)
bruising
stiff skin
lack of subcutaneous fat
developmental delays
mild cerebral palsy-increased tone in legs, decreased tone in trunk(Dr. Sapin neurology documented this)
clubbing of fingers
sclerodermoid skin changes
high palate (typical of a gentic disorder)
acroosteolysis-reabsorbtion of fingers and toes
prominent veins in forehead
hypopigmented papules on chest and abdomen-small white areas on the skin

Anyway-as you can see, this is all a bit confusing. That he does not have Progeria is great, but it is hard to believe because they were so convinced and it covered all of Nathan's issues. Some of my concerns are that these other diagnosis don't account for everything he has. Sorry for all the confusion. I was starting to second guess myself that maybe we jumped to conclusions with the progeria diagnosis, but that is truly what they were convinced he had and even what they had convinced Dr. Lockman that he had (pediatrician) when they talked to him.

Ahhhaa

I got Nathan to give hugs and say Ahhaa when he hugs!! I was worried that it was a fluke at first, but he has done it several times now and even did it for Mark. It is really really cute!

Sad

I feel very sad today. The rain probably doesn't help. I just see all the signs that point to Progeria, the veins in his forehead, the tight legs, the white skin marks and the flattened fingers where reabsorbtion is occuring and I just feel so sad. My heart is breaking and I am hurting so badly. Sometimes I have to force myself to keep moving-literally moving. While doing everyday things like wiping off the table, I want to just sit down and throw in the towel. I feel like I am going through my days pretending to be someone else, someone who is happy. I just can't believe this is really happening to us. I still am hoping to wake up.

We will hopefully hear something on Monday from CHOP. Our girl, Livia, will be back.

Nathan's Adjusted Birthday

Today is Nathan's adjusted first birthday. He has been doing well-as cute as ever. I have concluded that I would be able to handle all of this if it had not taken us so long to have Libby and Nathan. I don't mean that Nathan or any other child is replaceable and I still would be devastated that he has this disease, but I would feel like my dream of a family would not be gone too. I would still be sad and grieve for him, but I would be able to pick myself up a little bit easier. I feel like I would love and accept Nathan more for who he is and what he brings to our family, rather than looking at what he is not. I look at him and worry that he may be our only biological child and our last chance at "building our family" (that's a phrase they use in adoption). If I knew we could have another child as easily as most people, I would be able to focus on Nathan and not be so obsessed with the size of my family. It just feels like we have spent the last four years on "the baby chase" (my friend Megan's phrase), we breathed a sigh of relief that now we had two children and then boom, we got the wind taken out of our sails again. I guess maybe that is what I should pray for...to focus on Nathan and Libby, enjoy them and not worry about the future. Maybe I shouldn't be praying for a misdiagnosis or a miraculous cure, but rather being able to live in the moment. It probably seems so obvious to everyone else, but it just dawned on me that this is what I need to do. I know there are people who are in far worse situations than we are, so I need to stop whining and move on with my life. I'm getting there, it is just a slow process for me.