back to work

Hey, look at me, I got pictures uploaded (or is it downloaded??) to my blog-I wanted to get them on the main page, but this is a start. Anyway-I went to work today for the first time in several weeks. Re-entry was successful and I did manage to get some work done. Everyone at work was very sweet. I tried to institute a no-hugging policy because that makes me cry. Some people were able to restrain themselves and others were not (which of course is fine). I'm anxious to get back into the swing of things at work to keep my mind occupied.

Nathan has a cold, which is hopefully the reason he is not eating well again. He is back down to 15 pounds, 13 ounces. On several occasions we have thought that we had the weight thing conquered so hopefully this is just temporary setback. He got several mosquito bites on his face which I took as a good sign. They never used to bother him before, so he must be getting meaty enough for them now!

no news from CHOP

feeling down

I am feeling pretty down today. I am hurting so much knowing that my little boy is not going to live past his teens. I put a onsie on him this morning that says Future Quarterback and it seemed like a cruel joke. I get sad when I look at his transparent skin and know that it will not get better. Yada Yada-I know you have heard all this sad stuff before. I am anxious to know what Nathan has and we may not ever find out what genetic mutation has occured. I have been emailing the director of the Progeria Research Foundation and she cannot give me any information on other Progeriod Syndromes and if they are all progressive. I guess they don't really understand it all, but I am anxious to move on. She just ask that I take some pictures of Nathan and email them to her. I did talk with a mom in Pottsville today-Her son Josiah just turned two in May and he is on the PRF website. Her daughter is 3 1/2 too. That was helpful. She squelched my idea that since Nathan has not had any broken bones he can't have progeria. Her son has not broken any bones and she said kids this young do not brake bones any easier than other children. She did say that it gets better.

Thank you to all who are supportive of us, who check the blog, read my crazy ramblings and comment. We feel very blessed to have such understanding, caring people in our lives (mostly me because Mark seems to be handling this much better than me). Anyway that sounds like such a cliche until you are the one in the difficult situation with all the caring people around you. Then there is no way to really say thank you. I'm so happy to hear that everyone loves Nathan so much no matter what he has or is or becomes. He is a cutie!

nothing new and exciting

Nothing new and exciting here. Nathan is still gaining! This morning he weighed 16 lbs 3 oz. He is very frustrated with his inability to get to things and wants to walk really badly. He is not even able to do the motion of walking when you hold his hands. He is able to balance at the coffee table for a few seconds which makes him very proud. When he can't get to things, he screams a blood curdling scream. Mark said he screams like a girl. I say he reminds me of the boy who cried wolf. The first several times I came running to his aid, thinking he was in some life threatening predicament. Now I take my time and usually find him bent completely over trying to reach a toy or backed in a corner somewhere. He still seems a long way off from crawling or walking, but we will see.

I was feeling a lot better about the situation towards the end of last week. My perspective was that he is here now, he is a son, grandson and brother and we all will have several years to enjoy him and get to know him. Then on Saturday I began feeling down again. I guess being around him, it is hard to believe that he could have a fatal disorder. He is so alive and vibrant and sociable. Plus after Thursday nights phone call, I began thinking that maybe Nathan just has a skin disorder that is not progressive and not fatal. Then I looked up all the other Progeria disorders and they are all progressive and fatal. Not to mention that now if he has a progeria disorder, but not the classic (Hutchinson Guilford) will he qualify for the clinical trials? Anyway, sorry for rambling, I just feel confused. We don't know when the bloodwork will be back, Livia said a couple weeks. I worry that I'll be here alone with the kids and we'll get a call confirming a progeria like disorder. We can't just wait a couple weeks for this phone call. We have to get things back to normal. We will let you know as soon as we hear from CHOP

PHYLLIS' HELPFUL HINT OF THE DAY
Never use an electric hedge trimmer when you just found out your son has a fatal disorder. The bushes in front of our house have some major bald spots and are all different shapes thanks to my angry and random acts of trimming! At least I didn't decide to cut anyone's hair.

me again

I am writing again to let you know that we just weighed Nathan and he cracked the 16 pound mark-16 pounds, 1 ounce!! I reread my blog and he weighed 15 pounds 2 ounces on September 11, so almost one pound in 11 days is great! I know it is not an exact science on our at home scale, but still a positive sign.

Keep praying for a miracle!
Phyllis

News

We are more confused than ever. We got a call from Livia Medne last night at 8:30PM. She is the geneticist from CHOP (the one that held Nathan for us). She said she got a call from Chicago and the initial bloodwork ruled out classic progeria. They asked the lab to first look for classic progeria as this is what she, Dr. Zackai and Dr. Yen thought that Nathan had. They will now complete genetic testing on the blood sample in order to test for other types of progeria. She said that this only rules out the progeria that you see on tv shows. I asked if this rules out a fatal and progressive progeria and she said "no not necessarily" She said none of the disorders in the "progeria family are a picnic." She was very honest that they have no idea. The other disorders in the progeria family are also rare and some even rarer than classic progeria. She mentioned one that has only one other known case. I asked her to explain it to Mark too and he got the same thing-that basically the one type of progeria was ruled out and they will do further testing. I was initially excited beyond belief, but I don't want to get my hopes up. Obviously anything that wasn't fatal or progressive would be good news at this point. We don't know when we will have further information. I am going to try to call the Progeria Research Foundation today and see if someone can answer some questions for me. Livia was unable to put names to other disorders in the Progeria Family and I was not successful in my internet search.

Keep praying for us!

Phyllis

Libby is at school today and we (me, my mom and Nathan) are going to try to get out-a big trip to BJ's! Thank goodness my mom is here to keep me from laying on the couch all day wallowing in self-pity. Libby has given her such a hard time though. Her behavior is out of control, I assume because of all of this. Yesterday she said, "Mommy can you not stay in your room this afternoon?" I need to try to get things back to "normal" as quickly as possible for her, but I don't know if I have the energy. As mom said, even Carter knows something is wrong and has been hovering near me more than usual.

I emailed a mom from Pottsville whose son has Progeria. She emailed me her telephone number. I feel like I don't have the energy to call her, but I definitely will soon. It is good to know someone I can call.

My emotions change from minute to minute. At times I feel sad and hopeless. Nathan is going to lose his beautiful red hair and slowly deteriorate. At times I feel hopeful about the trials they are doing through Progeria Research Foundations. Sometimes I feel like giving up, like throwing in the towel and just caring for him while he is here. Other times I am defiant and feel 100% sure they will find a cure in time for Nathan. Sometimes I am in complete denial. He is so adorable and so bright eyed. How could he possibly have a progressive, fatal disorder??? Maybe there is something even more rare that they don't know about that he has that is not fatal-How completely ridiculous I know, but it goes through your head when it is your child.

Anyway-on a positive note, the appetite stimulant seems to be working because Nathan is eating 5&6 ounce bottles whereas before he ate two and was done. We haven't weighed him in a while, so I don't know if it is paying off in weight gain. I threatened to slip some of it in Mark's food if he crosses me-just kidding of course! He didn't find it very funny, especially since I bought him a half-gallon of coffee ice cream to ease his pain.

Friends and family have been asking what they can do, which we really appreciate, but unfortunately there is nothing really to do. It is hard because I know that you all are grieving too and I can't just worry about myself. Just knowing how many people care about our family is amazing. I hope that everyone can understand that I can't always answer the phone or return phone calls right away because talking about it often gets me really upset. Especially when Libby is around, I don't want to get upset because she really needs my attention right now. I hope this doesn't offend anyone or discourage anyone from calling and supporting us. We do not want to be left alone.

Soon will be the call to rally the troops and begin fundraising (see mom and dad, my rebellious and defiant spirit might pay off) I am not there yet, but that is when people can help with ideas, connections etc. Also, if anyone would be willing to help me put together a website for Nathan, let me know. I tried to put one picture of Nathan on this blog and I couldn't even figure that out.

thank you all again for your prayers for our family and your support.
love phyllis

Dr. Yen called today. The skin biopsy supported progeria. It also ruled out all other diagnosis they were considering. Therefore, it seems that the bloodwork is a formality and that Nathan has progeria. Don't know what to do, what to think or how to go on. Losing a child is one thing, but being sentenced to watch them die over the course of several years is another. It is not as if this is a life threatening disorder, it is 100% fatal. How could we be 1 in 8 million? It's not like there are even support groups for this because there are so few cases. So many things going through my mind. How do we make life normal for Libby? She is a kid that especially needs stability since she has such separation anxiety issues. Why does this have to be happening to her. How do we go on? How could I be losing my baby. He is supposed to be getting big and running around with his sister. How could this happen to us after all we have been through to have children? How could God take him away from us when we waited so long for him to come. He was a dream come true for us. I will write more later. Thank you all for your thoughts and prayers. I feel like I can't breathe. I wish I was having a nightmare.

very nice GI dr.

We had our appt today with GI dr., Dr. Kevin Kelly. He put Nathan on Prevacid and a appetite stimulant to see if we can get him more interested in eating. Nathan weighed 15 pounds 10 ounces and was still 27 inches long. We did not hear anything from genetics today. They said tomorrow we will be able to find out the results of the biopsy. The more I look at Nathan, the more I see how different he looks than other babies. We had to pull out clothes from last winter for him to wear (3-6 mo.) His skin is so transparent too. Somedays I feel very strong and capable of dealing with all this and other times (like this am) I feel like I can't breathe when I think about everything. We will let you know when we hear from CHOP tomorrow.

warning-very negative

I just need to have a pity party and get some things off my chest. I need to express myself and say some things that are not necessarily politically correct and definitely not the "I'm blessed to have a special needs child" menality that I think I am supposed to have. All of this is assuming the diagnosis of Progeria is confirmed, something Mark and I are convinced of already.

How could this be happening to us? Haven't we been through enough? Why have we had to work so hard to have a family? How do I tell my three year old that her brother is going to die? What do I tell her is the reason that I am crying all the time?

We could not wait for the day when Nathan would start walking and playing with Libby and the age difference between them would slowly close. Now what is that for? They can grow close and pal around only to have us lose him?

Libby will be an only child. We can't think about having more children in the middle of all of this? We can't afford to do invitro again, which is what we would need to do for genetic testing. Where as others give birth we have spent a fortune and are in debt up to our eyeballs from just bringing home the two that we have! We can't have another child when all we will be doing for the next several years is taking Nathan to appointments. That is not fair to Libby, Nathan or any other child.

And what about Nathan. Progeria is the worst of the worst-not only is it fatal, with no known treatment yet, but it is disfiguring. How long do we want him to be here, possibly suffering physically and emotionally. Not only will he know he is going to die, but he will also have people staring at him, we will have people staring at us, giving us the "we feel sorry for you" head tilt and the fake kindness. We will hear people saying how strong we are when we know the truth, that we are not strong (at least not me), I am not strong-I am scared, I am angry, I feel cheated, I am envious of others-that is not the definition of strength. Maybe he will have those feelings too or maybe he won't.

Intellectually I know that I will be in a better place some day. Sometimes I feel like this is the most difficult time and sometimes I feel like it is the easiest. This is the time when family and friends are rallying behind us. This is the time when it is okay if I stay in bed and don't answer the phone. This is the time when my goal for the day is to brush my teeth and take a shower (I did the first, but not the latter-It's only 9:15am). It is understandable that the laundry is piling up and that I haven't made dinner all week. Right now I am taking baby steps, putting one foot in front of the other. But in a couple weeks or months, I will have to smile and talk about the weather. I'll have to go to work and listen to clients mistreat their kids. I've done this before you know-after being told that my eggs were old and I had less than a five percent chance of having a baby. Eventually, I will have to go to birthday parties and play dates, watch my friends babies grow and flourish, watch other families move on and everyone will forget that I am hurting. Because it will have been a while since we heard the news that our son is never going to grow up and be the man we had dreamed. That he will never stand by his father with his first new car or at his wedding or when he becomes a father.

Then again, maybe they are wrong. I have beaten the odds all my life-in good ways and in bad. People have asked if I am angry at God, but I don't think I am. I think I am feeling ambivelent. Where has he been? He feels so far away. How do I get to him again? Do I want to get to him again or should I just take it from here?

Hope this isn't too personal or hopeless for people. I just needed to be real and express all the tings that I have been feeling guilty about feeling.

If it is not progeria and merely dwarfism, it is still not fair. It will still mean stares and whispers and the loss of the life we had hoped for our son.

some resignation

Looking at pictures now over the course of the last few months, Nathan has changed. His skin has become thinner, his recessed chin more defined, his neck more wrinkly and it looks to me like Nathan has had some thinning of his hair. People have noticed that it is lighter, but I think it is becaue there is less of it. From what I have read, Nathan fits everything for progeria. I have searched and searched for something that does not fit and I can't find anything. Everyone's stories are the same, normal baby, at 6 months weight gain slowed, reflux, recessed chin, tight skin and joints, white marks on skin and then the diagnosis after which hair loss begins.

My beautiful little boy that we waited so long for will most likely wither away. I always admired people that became advocates for a cause or started a foundation for something after they experienced a tragedy or illness. Now I understand where that determination comes from. It is nothing to be admired, it is instinct, an adrenaline or superhuman strength. If Nathan has progeria, I will fight and do whatever I can to find a cure.

Hell

I am going to try to explain and convey the outcome of our appointment yesterday to the best of my ability. It was the worst day of my life so far and the details are a bit blurry.

as you know we had our appointment with Genetics yesterday, Dr. Zackai who turned out to be a heavy-set, gray haired woman whom one would not picture to be a dr. our appt was for 1pm and by 2:30 we had only seen an annoying resident who did not have much patience and was not very good at what she did. Finally at almost 3, Dr. Zakai came in with the resident and someone else (intern/resident/fellow???) They looked Nathan over and Dr. Zakai asked a couple of the same questions the resident had asked. She was particularly interested in his fingers which she noted had some "clubbing" and the skin which she noted had some "thickening." She ordered x-rays of his hands and feet and also referred us to dermatology. Charles (who had hooked us up with the appt) escorted us to radiology and waited for us. He then shuttled us down to dermatology who was willing to see Nathan(which in retrospect was a bad sign). Two residents from dermatology came in and looked Nathan over asking the same questions the genetics resident had asked although they were a lot nicer. We repeated them. They were particularly interested in the little white puckers thick spots of skin on Nathan's chest and belly. They have been there for more than six months. I asked Dr. Lockman (our ped.) about them and he dismissed them as nothing significant. At that time our primary concern for Nathan was weight gain/development etc and that did not seem to be a priority. By this time we felt as if Nathan was a science experiment because the resident from genetics had come back down to check things out. Finally Dr. Yen (the derm.) came in and looked Nathan over, asking the same questions. He went on to say that Genetics and Dermatology had talked and they were thinking of similiar possibilities of a diagnosis for Nathan. He spoke in very general terms saying that he did not want to worry us by giving us possible conditions that we would worry about and look up on the internet. Dr. Yen has the gift of saying a lot of words in a gentle way without saying anything substantial. We pressured him to give us some ideas of what could be wrong because we would be worrying and looking things up on the internet anyway because he is our son. He said that what they wanted to rule out first is a condition called Progeria-a progressive, premature aging disorder. They would do a biopsy later in the week and look at the x-rays in order to confirm or disprove. Mark asked about the disorder and I said, It is fatal right? yes it is fatal-most live until the age of thirteen. We broke down of course. Mark asked if we could do the biopsy right now (good idea) and he said yes. They did the biopsy which involved numbing solution and poking a tiny hole out of Nathan's belly. Meanwhile I went to call my friend Susan to ask if Libby could stay for dinner (thank you Susan) and to get gas in my car (it was so low I was worried that I wouldn't make it out of the parking garage and I needed something to do) When I returned, they were shuffling Mark and Nathan back into the exam room and Mark broke down sobbing. It was one of the worst moments of my life, Mark told me that Dr. Zackai and her two interns had come down from genetics (another bad sign) and with Dr. Yen and all their little pupils kept going in the conference room to convene. They told Mark that the X-rays confirmed their suspicions-that Nathan's fingers and feet show signs of acro-osteolysis, a sign of Progeria. I am still not clear what acro-osteolysis is exactly, it is an abnormality of the end of the bone-a sort of reabsorbtion of the bone. There was so much information, it was hard to be clear on a lot of stuff. After "giving us a moment" (they were all staring at us with blank faces), they ushered us into the conference room where they had text books open on a table. They showed us the x-rays (again with blank stares). The one woman, the tall woman with an unknown accent offered to hold Nathan which was very sweet-especially since she seemed to have never held a baby before, strange in a children's hospital.

So these are the options they said, Progeria is first and foremost-it would account for the skin abnormalities (wrinkling, stiffness), and growth retardation. The only thing that does not fit is the fact that he has hair and it is unusual that he has not broken any bones yet. As mentioned, Progeria is progressive, no treatment (tx) available and life span is usually 13. Death is usually caused by stroke or heart disease. These are the kids that you often see on the Maury Povich show (my words not theirs-they were not that insensitive). Only fifty known cases in the world.

Hutchinson-Gilford progeriaThis syndrome occurs in about 1 in 8 million children. At birth, a child with Hutchinson-Gilford progeria appears normal. The syndrome begins to show around 6-12 months of age, when the baby fails to gain weight and skin changes occur. Over time, the child begins to look like an elderly person. Some of the characteristic symptoms are:
Head and face: baldness, prominent scalp veins and eyes, small jaw, delayed tooth formation
Bones: thin limbs with prominent joints, short stature, joint stiffness, hip dislocations
Heart disease and artery disease

Best case scenario is Pycnodysostosis-a similar condtion affecting the skin which is not progressive. It explains the delayed eruption of teeth, bones, but not the thickening of the skin. It is not fatal, but 4' is the typical height. Bloodwork had to be sent to Portugal because there is no lab in the US for this disorder.

They appeared confident that Nathan fit into one of these categories, Acrogeria or Hajdu-Cheney Syndrome included-none of which are pleasant. I asked about the other disorders that I have either stumbled upon or that have been suggested to us, and there was a resounding response of No, No, No, definitely not. I asked the chances of them being completely off base and they looked at me blankly. It seems that the skin condition cannot be explained away easily.

So as it turns out, cognitive delays are the least of our worries now and all we pray for now is a non-fatal disorder. It is unbelievable when dwarfism is the best case scenario for your child. It is weird because I was so focused on his skin for a while because it was the only thing I could not find for a while in my search, but then I let it go.

It truly was one of the worst days of my life so far-I can't imagine that this is true. the biopsy results will be in on Tuesday-we are not clear on what they will reveal, what with all the information being thrown at us. The tall, foreign woman will be calling today to make sure I am okay and I will ask her to explain again. Poor Nathan, poor Libby, poor us. We just wanted a couple of healthy little kids. We even gave up the idea of having them be spitting images of us and were thrilled for those few months that we had our healthy family of four. It now feels like a brief moment in time when my life was finally as I had imagined it to be. We wanted Libby to have a sibling to grow old with and now she may not. Please pray for us to have the strength to be a good mommy and daddy to Libby and Nathan and to be good to each other. It is hard to have the energy for each other at the end of the day when the appointments, finances and worry wear you down. I have this unhealthy prospective that my life is one big mistake after another and that these pitfalls are somehow a relfection of me not being good enough. Please pray for me for as I struggle with this.

We love you all and thank you all so much for your love and support.

weight

Weighed Nathan this morning, 15 pounds, 2 ounces. The weight issue continues to be my biggest worry and frustration. Hoping we get some answers at next weeks GI appt or we can get into the feeding clinic earlier than December.

a nervous breakdown finally pays off

just wanted to let you know that I called on Tuesday down to CHOP (Children's Hospital of Phila.) in order to schedule an appointment with a geneticist, Dr. Zakai. I spoke with a receptionist who took my information and told me she would run it by the director and call right back. Well she did not call me back. I called again today and spoke to a gentlemen about the situation. He looked up Nathan and told me that they will not even schedule an appointment until I call the pediatrician and neurologist and have information faxed down to their office. I lost it and began sobbing. The thought of trying to get dr.s offices (sorry Jodi) to fax down information and not being able to schedule an appointment until then was overwhelming. I pictured myself back and forth on the telephone and not being able to schedule an appt until sometime next week. Well, the man said "are you okay" and I said "No" and proceeded to unload on him about how overwhelmed I was at the idea of calling to get records when I just wanted to find out what was wrong with my son and why didn't they call me back on Tuesday to tell me this so that I could begin working on it already-time is wasting. He was very sweet and said he was sorry and understood, but he said fortunately the wait for appts is not long so as soon as I get the info faxed, they can schedule. I asked how long and he said 8 weeks. This started a whole new episode of tears, with a dramatic statement of "8 weeks might as well be a lifetime for a mom who is trying to find out what is wrong with her son." He asked if he could put me on hold and came back after several minutes saying that he had spoken directly with Dr. Zakai and they could fit us in on Monday at 1:00PM. In retrospect I wish I could have triggered a breakdown when I called the feeding clinic, but we will take what we can get. So Monday is the day of reckoning and hopefully we will get some answers. we'll keep you posted.

dr. appt/wheezing

Nathan saw Dr. Lockman today-no sign of problems with his lungs. Don't know why he is wheezing, possibly because we took him off Zantac, so we will start it again. Nathan weighed 15 pounds 8 ounces-down four ounces from last week and the same as he weighed four weeks ago at the dr. office. I don't understand why he is losing/not gaining weight!!! We scheduled a barium swallow test for October 20,2006. Seems far away, but they will put us on a list for cancellations (that never happens).

wheezing

On Sunday we noticed that Nathan was wheezing a bit although he has had no other symptoms of a cold such as fever, runny nose, cough etc. We have started nebulizing him again. Called the on call dr. who said it could be change in weather, asthma or beginning of a cold. We will take him to the dr. tomorrow. It does not seem to be affecting his appetite, but he is stil 15 pounds 10 ounces-no gains yet. Never a dull moment with Nathan-we'll let you know.

I like this blog thing-hopefully it is imformative. Some of the feedback I have received has been that I am better at expressing myself in writing than I am verbally. Don't be surprised if I have a chalkboard in hand the next time you see me!

Back From the Beach-September 2, 2006

We are back from our rainy week at the shore! We had a good time with the Chesshires despite the rain and being stuck inside with four children under four. Abby, Libby and Dorothy did a little bit of bickering, but got along as well as could be expected. We only had one good day at the beach out of seven, so we were pretty disappointed. We spent most of our time eating in order to soothe the pain.

Unfortunately, Nathan didn't get to experience much of the beach. He did enjoy riding in his new wagon on the boardwalk. Lots of people on the boardwalk did a double take and commented on how cute he was sitting there all pleased with himself. The lactose-free diet doesn't seem to be doing too much. This morning he weighed 15 pounds, 10 ounces, down a tiny bit. We keep thinking we have found the answer, but have not yet. We are so anxious to get to the feeding clinic and for the GI appointment and find out definitively what is going on. He definitely seems to be drinking more so we will continue the no dairy thing for a while. Call it denial, but we really don't believe that Nathan is cognitively impaired. He just seems so aware, looking under things, responding to his name, imitating etc. Over vacation we also noticed how badly he wants to eat big people food, but throws up with the slightest bit of food-ie grated cheese, mashed potatoes, bread crumb, cheerios. About the only food he has been able to "chew" on is pizza crust, which he cried when we took away. The one dinner we ate out, he screamed throughout the meal (poor Kate and Jon). We tried giving him his sippy cup, baby food, toys etc. and the only time he stopped screaming was when we gave him a french fry to put in his mouth. The poor little guy is frustrated (as are his parents). He is quite the cutie though-he has the best giggle and is very ticklish!