Beach

We are at the beach! Packing for three kids with one being a baby was interesting. I cannot believe how much stuff we had packed in our car. We even left some stuff behind because we had no room. We should have borrowed Memaw and Pop pop Falcone's escargo but didn't think about it. Actually we would have probably just brought junk we didn't need.


The kids are really enjoying themselves! Nathan loves the water and of course the boardwalk. He really is almost running! It's really cute. The sand is great exercise for him because it is such an unstable surface. Libby is fearless in the water, boogie boarding with her cousins, Uncle Joel and Mark. She is very strong. When she is knocked over she pops right back up and goes for another wave. One of the benefits for her of not being genetically related to me. We bought Nathan a Superman boogie board last night so we will see how that goes. I need to take some pictures.

ups and downs

Well, I still have lots of ups and downs regarding the boys condition. I'm feeling down the last couple of days. I wish my sons had the milky skin of healthy kids and not the mottled, pocked skin from their disorder. I wish they had the age appropriate teeth and could move in all directions, falling flat on their butts and hopping back up again. There for a while I was convinced that they would be cured; however, now I am beginning to accept that they may live through their twenties only. I recently read a book, Nothing Can Separate Us which was written by Connie Jackson. The author is a relative of a family friend and she gave a copy of it to us to read. She has six children, three of whom died from a horrible genetic disorder called Batten Disease. When I read the book, it gave me a temporary feeling of normalcy. Ms. Jackson's daughter died when she was 16 and her two sons died in their mid-twenties. It made the possibility of my sons not living past their twenties a reality for me. In a way I guess I assumed this could not happen, the same way I assumed that infertility was "our one thing" and that we could not have a second child with special needs. The irony of keeping two kids healthy and growing when they essentially have a death sentence twenty years from now really hit me. When will they begin to understand this? I don't know and I don't want to know. They are so precious and perfect and innocent. Who knows maybe they will handle it better than I am.


Reading about Ms. Jackson enjoying her three surviving children as they grew to adulthood makes me long for another child. I don't want Libby to be the only surviving child; however, four children right now is not within the realm of possibility for us. The biggest thing I think I learned from the book was from the three sections at the end that the author wrote about her three surviving children and their perspectives. They felt left out, guilty for being healthy, overlooked and that they had to be perfect. These are some great insights into making sure that we do the best job possible in helping Libby feel loved and respected as she grows. Even the fact that the sibling sections were at the end of the book was a good reminder for me. It was the only way to write the book as the true "story" is the struggle with the three afflicted children; however, I certainly do not want Libby to look back at her life and feel like an afterthought.

He rolled!!!

yes, he did it! Bennett rolled over from his back to his belly!!! My friend Sue was over and all of a sudden she said, look, look, he rolled over! It took me a while to comprehend what she was so excited about and pointing at, but sure enough he was on his belly with his little butt up in the air! We are so excited!! Miss Cindy, the physical therapist was saying yesterday that we really need to work with him more at home because he is falling farther behind (which I know is true). I'm pretty sure he heard you Miss Cindy and has risen to the challenge! It is further inspiration for me to work with him which is good! The big kids were excited for him too!

We went to the library for story time today. At one point the librarian asked all the kids to stand and come get a maraca in order to sing a song. I was watching Nathan who was up front because I know it is difficult for him to stand up quickly. I was worried about him being trampled by the 40 or so other preschoolers; however, he was soon on his feet. He got his maraca and was not to be pushed out of the way, trampled or otherwise ignored! It just made me smile. I guess I don't have to worry about him so much. He has such a great little spirit! Libby did not participate in story time as she felt she was too big. She's too funny. I read each of the kids their library books in their beds with a flashlight tonight. It was another good day!

What a difference a telephone call makes.

Well, the title says it all. Mark spoke to Livia today and here is the deal. The cells will soon be on their way to Maryland, to Francis Collins who came up with the Human Genome thingy. There they will be treated with the medications. We will most likely not find out if they are responding to treatment until the end of November/December, so hopefully we will get another nice early Christmas present this year! This information is translated from Livia to Mark to me and now to you so along the way there is bound to be some missing or misinformation. There was apparently a discussion of off-label use of the medications and getting approval from the IRB for a clinical trial. The clinical trial route would take longer but in the end may be the better route because there would be documentation of outcomes. All this will hopefully be clarified during our visit to Texas. So off to Texas we shall go! She then called back to tell Mark that the people from Boston are meeting this week and will discuss 'our case.' They are pretty busy with the results of the progeria clinical trials that are due in October 2009. Pretty exciting to have hope on the horizon! Just to hear that the wheels are still in motion and we are not forgotten is so encouraging!

The baptism was so nice yesterday! We had lots of family there for the occasion and took up many pews of the church. It was awesome to look out and see their happy faces so thank you for coming. The only family member who didn't come was my sister, Donna...some excuse about she just had a baby..couldn't travel the 5 hours......just kidding Donna, I love you and miss you! Bennett was delightfully happy and well-behaved! I'm pretty sure it was an attempt to make a liar out of me. Honestly, he is truly high maintenance. He just loves being talked too so having all those people around thrilled him. Libby and Nathan were on cloud nine having their cousins with them. Nathan was a little naughty in church but just typical almost four year old boy stuff which is good to see. He is so darn cute! I'm sorry. I know you are not supposed to say that about your own kid, but he is just a riot! I think it is partly the age. They are just so full of themselves at 3 and 4 years old. The church gave Bennett his first Bible, a certificate and a blanket! It was a wonderful day!

Whatever I do, it feels as if the situation is looming over me, kind of always there overshadowing. I feel like I could really enjoy something if only I didn't have all this worry on my back. It was especially present when shopping for the post-baptism luncheon. People would ask about the occasion, I would tell them "my son's baptism", they would smile and I smiled but in my mind I was thinking...'but he has a progressive and devestating medical disorder and so does his brother. This is in not a typical happy baptism. How can it be?' For the day of the baptism I managed to push that cloud away and enjoy the day. I decided to let myself be normal for the day and it was well worth it. We did not get a good family picture in front of the church on my camera so hopefully someone else did. Here is Bennett post baptism and then post-party.

No Word

Mark paged Livia again and still no response. It's making me crazy! Bennett's baptism is on Sunday. Bennett and Nathan had PT today from 2:15 to 3:15 at Nathan's school. Mark joined us halfway through so hopefully now he will be able to do some of the things with Bennett. Nathan did a great job with Miss Cindy today. When he saw Mark he actually ran a few steps down the hall!

Texas

Mark paged Livia yesterday; however, we have not heard back from her yet. I emailed Claudia from Texas again and she left us a voicemail message. In her message she said that everything is still on schedule for our visit but that I need to talk to Dr. Garg about the treatment question. I have gotten myself in a panic which I'm hoping is just self-manufactured. Mark is not worried and says we have no reason to believe anything has changed from the original plan. I want to know if the cells were shipped from Texas to Baltimore to be treated with the medications and how long they will be treated before we will know if it is effective. I want to keep moving! This is just one small part of what the doctors and staff are working on, but to me it is my whole life and the hours are ticking by.

Oh and what about Boston? Are they going to be an option for us?

Worried

Okay, so we have been completing all the paperwork for TX and the language is all about testing and research. We have to sign one consent that acknowledges that we understand this is in no way a treatment..... I have a feeling these consents are the same for everyone and our situation is unique; however, it has me fearful that we are on a different page as Dr. Garg. I emailed Claudia (his nurse) yesterday with a CC to Livia kindly trying to clarify this as we don't want to spend our time, money and volunteer our boys unless the eventual goal is treatment. (I didn't put that about spending our time, money etc.) Claudia typically emails me back right away so now I am worried that maybe my concerns were valid. I know there could be a very simple explanation, out of the office etc. but at this point I am getting concerned. This is feeling like back in the day, waiting for a boy to call! I guess we'll use that dating rule, wait and call on day 3! (Mark did that to me.) It was yesterday morning so technically we are through two days. The waiting just makes me crazy!!

You know it's bad when.....

you drive up to the Walgreens window and they say, "Hi Mrs. Falcone." uggh The boys each have three prescriptions so we are always there, but still.....

I also realized something bad about the possible treatment for the boys. I'm not as concerned about weight issues and development issues. Every time I feel the need to push them, I remember that they are going to get medication that is going to resolve some of those issues!! Call me crazy but it's becoming ingrained in my head that this is going to be successful. Speaking of development. Nathan had a three month re-evaluation at Theraplay and he made little progress towards his goals. The PT said that she thinks we have to drop the goal of having him sit criss-cross applesauce (formerly known as indian style but no longer PC) because it may not be something he will be able to accomplish. I don't like the sound of that!! I hope it is not a response to the diagnosis. We weren't sure if he could walk either, but not knowing that it was a skin issue his therapists worked and worked with him and look at him now! Mark had the same reaction when I told him. I know we need to work harder with him too. It's just that we are always in such a rush and it is easier to pick him up, take his plate to the sink for him...or.....ask Libby to help him. Yes, I must admit I ask Libby for help too often and I have been working on not asking her as frequently.

We are starting to make plans for a visit to Texas. Libby is sooo excited. I think I told her too early. The woman's name with whom I have been corresponding in Texas is Claudia and she is very nice and helpful. I explained that we would love to bring Libby so we can make it a family trip and she said we will have alot of down time and should definitely bring her. This will be a pretty expensive trip with the airfare; however, we should be able to use some points for about half of the costs. We have never used them, ever so it seems as if we were unknowingly saving them for this trip! Now when we have to go back we may be staying in a youth hostile but for now we are doing it right. We are still trying to squeeze in a beach trip too because we didn't go last year. For some reason it seems like the kids deserve a trip to see some sand and the ocean even with an airplane ride to Texas. Or perhaps Nathan just deserves a needle free vacation.

Sunday

We went to church this morning, then the pool, then nap and then the first night of bible school. Libby, Nathan and Bennett have been sitting with us in Church this summer. During the summer all the kids are combined for Sunday School and Libby doesn't like being with the big kids. Nathan would be in the nursery because summer Sunday School is for age 4 and up. And Bennett....well we just like him. Unfortunately it doesn't make for a very peaceful service. Today they were especially disruptive for which they received consequences. It was quite embarrassing though.

Nathan actually sat down today in the baby pool which is the most he's done this year. He actually fell down and got himself back up again which was impressive! After getting wet accidentally I guess he figured it wouldn't be that bad. Bennett on the other hand did not do well with his first pool experience. I tried putting him in a baby swim thing and he screamed bloody murder! I felt bad for torturing him.

Bible School was a success! Nathan and Libby are in different classes which is great. Nathan is so cute. I love hearing him talk. His teachers said he even participated which is great. Hopefully they won't baby him too much. He will let people do everything for him if allowed and there are some impressionable teenage girls helping with his class. That is his target audience! Libby had a great time too and can't wait to go back. We never know what to expect with her. I think she may have missed the main point of the evening because she said "I don't know why they told us to look for God. We can't see Him."

A while ago I was talking with another mom who has a son with special needs. We were talking about dealing with our children looking different. She said that it doesn't bother her when other kids stare or make comments about her child; however, it bothers her when it is an adult who stares. I definitely noticed that I feel the opposite. Sometimes it takes me a while and then today at the pool I realized the reason. I can handle the adult stares, I'm a big girl; however, the kids are the ones that will matter to Nathan and eventually Bennett. It was an aha moment as Oprah would say (basically the same thing a 'duh' moment).

I just keep thinking of the picture of the model mice that were positively treated with the medications. They had more hair, more weight and we generally bigger. I know that God is capable of curing the boys. I know it is what I have been praying for and hopefully others have too.

It's really progeria

Lets face it, it really is progeria only slower. So we will hopefully have more time with our boys for which I am grateful! I wasn't always grateful. Initially I thought 'why bother' but the longer we get to spend with them the better. It's just that in my head I keep replaying the events of the last three years. I keep hearing Dr. Zackai in my head saying, "You've got to get progeria out of your head." Then I think back to when Nathan started losing his hair and how it made me worry that he had progeria. We were assured that it was a separate diagnosis of "pili torti." I remember saying so many times how much Nathan looked like the children with Progeria.

Whenever I am at CHOP, in the parking garage, I have flashbacks of "that day" when we received the original diagnosis. Normally then I breathe a sigh of relief and wonder how I got through that day and the days that followed. The other day when I was there I went through the same feelings, first the flashback to "the day", Mark and I sobbing, pushing Nathan in the stroller back to our cars. Then came the relief and then I realized that I am not allowed to feel that relief because it has become reality again.

The other thing I recall from "that day" is following Livia through a hallway and asking questions about having future children. She said that if it was Progeria, we would be no more likely than any other couple to have a second child with progeria. If it was pycnodysostosis, we would need to have genetic testing because we would most likely be carriers for the disorder. So there was a positive for both. But here we are a combination of both scenarios, a progressive disorder with shortened lifespan and being carriers for the disorder.....very strange.

Can't sleep

Well, I cannot sleep, so many things running through my head. What will this trip to TX be like? When will we go? How much money will it cost us in flights, hotel and food? (not complaining, just thinking) How many times will we return? Will we be able to afford all these expenses? What if the cells don't respond to the medication? Forget I said that one. Will Libby be resentful of being a sibling of special needs children? Will she define her childhood as being dragged around to medical professionals, dropped off at people's houses or helping her brothers? Will we become obsessed with finding a cure and lose sight of all else? When will we find time to complete all this paperwork? What if my boys don't get to be Daddies? How do I explain all this to them? Everyone jokes about kids not coming with a handbook; however, we all expect that eventually we will have some tough discussions. Certainly telling my kids that Nathan and Bennett may not.....I can't even say it right now and don't want too.

My brain is so filled with all these thoughts that there is barely room for the other things in my life that require planning. Bennett's baptism is next Sunday and I haven't even thought about what we will be eating for lunch afterwards. I am THRILLED that all of our family is coming; however, the thought of all the details involved in getting ready for that feels insurmountable. Please Allison/Falcone families (it was alphabetical Falcone's), don't take this the wrong way. I cannot wait for you all to be here next Sunday and spending time at our house with our kids! And there will be food, no worries.

Sometimes I forget about Bennett, forget that he is here and has the same thing as Nathan. Subconsciously I am back prior to his birth when we were still expecting to have a chance at giving birth to a healthy full term baby. I think it was the little boy section of Target that pulled me back to reality. I had hopes of a big beefy baby speeding through the sizes and dressing him in "future quarterback" onsies without irony. It just hits me that this is now a reality. We have two children with this progressive disorder. I don't feel like I am being negative right now. I love my kids so much and wouldn't trade them for the world. I am not saying, 'poor us' although I do wonder what life would be like with typical children, moving through childhood without so many obstacles. I don't want to go back. I am grateful for what we have been through because it is a part of us, Mark and I as a couple. I just want them to get better now. I want to be on the front page of the paper with a picture of the miraculous boys who defied all the odds and were cured from a devastating, debilitating disorder. There we will be, the five of us and a picture of Livia, Dr. Zackai and several other people who made it happen. We will have a happy ending! .....and then we will gratefully worry about homework, drivers liscences, curfews......

A PS regarding Libby helping her brothers, Several weeks ago we were at the McDonalds playplace. A little boy there was being mean to Nathan. I don't think it had anything to do with his special needs. Libby told us of coming to his aid and telling the little boy "Be nice to my brother. He is going to look different when he gets big." We were so proud of her. She is constantly saying that the doctors are wrong about Bennett because he is getting big and doesn't look different.

It's now 5:00am and I am going to try this sleeping thing again!

I survived!

Well, I survived as anticipated and the kids were super super well behaved. Regardless of how well-behaved they are, it is a lot taking three kids with a stroller in a cramped doctors office. Initially everything is neatly packed in the stroller basket, baby stuff in one bag, my stuff in another and the big kids stuff in another bag. By the end it is a pile of crayons, papers, wipes and half drank bottles etc. The biggest issue was that the office was in the main hospital and I'm used to going to the Wood Center. They are connected but if you park at the Wood Center garage you have to take the elevator up, walk across a connecting bridge and get on another elevator to go to the office you need. We did that many times which I'll explain.

The appt went well. Dr. Meyers is so nice. He is from South Africa! It's neat meeting people from all different parts of the world. He had read a ton of articles regarding the diagnosis. Dr. Zackai had given them to him and he had done his homework. He wanted a urine sample from the boys so he put bags on them. Bennett had some by the end of the appt, but Nathan did not so Dr. M gave us the supplies to take it off at home and drop the samples off at our pediatrician. After the appt we got on the elevator to get to the other part of the hospital to get lunch. On the way back Nathan continued to fuss about the bag and how he couldn't walk. I picked him up and pee started running down his legs onto me! So we stopped at the bathroom. Picture me with three children taking up an entire bathroom, trying to take off Nathan's bag while he's crying because it hurts. I poured what little was left in the bag and took the elevator back up to Dr. Meyers office. Dr. Meyer was nice enough to take us back to the same exam room so we could get Bennett's sample. Well Bennett's had leaked too and was now empty. Dr. Meyer said he would use the sample Nathan had provided and give Bennett a reprieve.

Anyway, Dr. Meyers did not see anything in his physical exam that would cause concern. He talked about scarring of the kidney's as a symptom of MAD; however, he didn't think we need to do anything for a while if they don't have any protein in their urine. When we were leaving the first time I thanked him for taking so much time with us and he said they had set aside a large chunk of time for us because it is such a complicated situation. I'm glad the medical professionals are so fascinated by the boys because it means they are getting the best care possible.

Part of the longness of the day is due to Nathan walking so slow! I would love to get one of those strollers with the little seat on the back, the Sit N Stand. It would be alot easier, but I think he needs to develop the endurance (plus Mark would kill me if I bought another stroller).

off to Nephrology

No new news regarding our cells, a trip to Texas or a trip to Boston. The kids are doing fine. We had a great time at the Phillies game on Saturday night! Nathan does have a nice big welt on his forehead. After the pool yesterday, Libby took off her seat belt and the metal part clocked him in the head. It is nasty looking. It's so stressful with him because I worry about every little injury.

Today I am off to a nephrology appointment for both boys. I don't feel like going. The appointments are at 9 and 10:30 so it will basically be my whole day between being there and unpacking all the things I took along to keep the kids from going crazy. I know waaah waah waah! I don't even know what they will do. I'm expecting them to refer the boys for different kinds of tests, which will be more overwhelming. I can't believe there is a part of Nathan that has not undergone testing, but of course there are many parts that make up the miraculous human body!

Here are two pictures (obviously!) Mark took the one of Bennett who fell asleep while propped up on the couch. We are dog sitting for our friends so the other picture is Libby and Nathan with Clayton. They are having a great time micro-managing her.

Cardiologist

Nathan had his cardiology appointment on Thursday in King of Prussia. Mark met me there and we actually had a good time at the appointment just because we enjoy being together! The exception was when Mark explained that Nathan has Mandibuloacral Dysplasia, which "is a form of Progeria." My heart sank as I heard him say it, as if I were hearing it for the first time. The word Progeria sounds so harsh and it was like I was jolted back into reality for a few minutes. How can we be such a happy family and be dealing with two children with such a horrendous prognosis? For so long when we talked about pycno and how 'at least it's not progeria.' When we talked to other people about it, they would say, "Wow, much better than the original diagnosis!" It's weird to now be hearing it again.

The echo was fine, looks the same as the one he had last year and the year prior so Nathan is cleared to be on Erythromycin. Dr. V seemed confused as to why Dr. B referred us to him. As we were leaving, Dr. V told us to enjoy our family. It was almost as if he didn't hear the diagnosis because we acted as if things were completely normal. Plus he didn't know that we are dealing with two children with the disorder.

After the appointment we met Meemaw and Pop Pop Allison for dinner at The Cheesecake Factory at the mall. I'm so impressed that my parents braved the traffic and drove from Gap to King of Prussia on short notice! We had a great time and a great dinner courtesy of Pop Pop and Meemaw! Thank you! The kids were good, even Bennett was much better than he was the last time we took him out for dinner. We are not sure if the Prevacid is working as well as the Axid. He has been a little bit more fussy so I guess we will have to give it time.

I printed out the consents that Livia sent us for the University of Texas. There are 50 pages of questionnaires and consents to be completed and we have to do one pack for each of us, Mark, myself, Nathan and Bennett. 200 pages! Some of the information is scary. It makes it seem like we are going to be human guinea pigs, being poked and prodded all day. They ask for consent to do muscle biopsies, skin biopsies, tissue biopsies, MRI's, blood draws, heparin injections, skeletal x-rays, dexa scan, cardiac activity (stationary bike-Bennett might have trouble with that one), nerve conduction study (electrical shocks applied over the skin), cardiac Echo, underwater weighing (huh??).....and the list continues. We can check "no" for any of these procedures. Of course we want to be as cooperative as possible because one assumes that the more behaved we are as patients, the better the treatment. I can't believe we have to take our kids on a plane too! That should be interesting. Going on a plane usually happens with expectations of a relaxing vacation, beautiful destination etc. It will be weird to be boarding a plane to be going to a hospital. I hope we see more than the walls of the medical center. They offered lodging in their "inpatient research unit"; however, that doesn't sound too inviting. We will be splurging for a hotel! We really want to take Libby as it is important for us to be together as a family and for her not to feel left out; however, I am not sure how much time will be spent actually in testing. I explained my concerns to Dr. Garg's nurse so hopefully she will let me know what to expect in terms of down time.

That's all for now! I don't know what happens to me, but it seems it is impossible for me to write a short, concise blog. I am so sorry. Skimming is perfectly acceptable! (I'm pretty sure that's what Mark does.)

Things are happening!

Well, things are happening! We heard from Livia and the cells were sent to Texas and Boston. We should be going to TX the end of August. Dr. Garg is the doctor we will be seeing/working with and his nurse already emailed me to make arrangements. This depends on how the cells react to treatment so please pray that positive results are acheived. They will be sent to Baltimore after they grow out for two more weeks in the labs at Boston and TX. Livia also sent via email, the results of our blood work and although I don't understand it, it confirms that each of us has a mutation that together causes Mandibuloacral Dysplasia. Like I said before, I am glad it is both of us and not one of us; however, it was still strange to look at the information and know that we have these gene mutations that caused our sons to have this disorder. Liva also emailed tons of paperwork for us to sign so I am in the middle of printing out consents, some of which are 15 pages. All the consents talk about this being a research project which is such a strange thing to consider. Livia also said they are looking into whether or not the embryos can be utilized for some purpose. She said that Dr. Garb has to check with the Institutional Research Board; however, it is more likely they can be used since Obama signed the bill allowing embryonic stem cell use. It's weird to be directly affected by something Obama has done! I know that this is very controverial and some people are very against it. Mark and I are not going to use the embryos to have more children and obviously they cannot be donated for another couple, so to be able to use them to possibly help our boys seems better than disposing of them. We need to do something with them soon because we are paying for storage and I don't want to be tempted to have another child. It will be sad though when they are officially gone though because it represents our last chance at having a healthy biological child.

I am surviving the summer with three kids. They are a handful though! Taking them out to a store is very interesting. Nathan and Libby walk and they walk right in front of the cart and bc of Bennett I can't see where they are and continually tell them to keep moving. If they walk behind me, Nathan lags five feet back and complains that he is tired. Nathan refuses to hold Libby's hand and with Bennett in the cart there is no room for Nathan and whatever I am buying. I thought I was doing well but several people have commented that I have my hands full so I guess I am not making it look easy!

We have been to the pool a couple of times too. Bennett is great! Libby is great!! Nathan........not so great. He can't swim in the big pool with Libby because he is not potty trained. He doesn't really do much in the baby pool except transfer water between toys. We could do that at home in the sink! Last year he tried the boogie board and this year he wants nothing to do with swimming. I would love to get him private swim lessons, but since he is not allowed in the big pool, I don't know how that would work. So we set up camp at the baby pool for a while, then go to the big pool where Libby swims and back and forth moving the entire set-up each time. Nathan's appearance does not bother me at the pool. When people look at him I could care less. What does bother me is the 1-2 year old kids running circles around him, running on the concrete, in and out of the pool etc. Even swimming in the big pool is not incentive for Nathan to go in the potty. He won't even try now. We have tried the tractor , which he says he doesn't want to ride it anyway bc it's too high. We have tried the pool. We have tried going for a ride on the Strasburg Railroad again. We have tried threatening no fire station birthday party. The one thing he doesn't like is taking naps so I even promised him that once he is potty trained he can be like Libby and skip nap/rest time. It is still not motivating him!

and......Libby said to me today, "I love being home with you all day Mommy." Ahhhh, one of the rewarding moments of motherhood! Sometimes I still can't believe I'm a Mommy to three little people. It's pretty great!