Successful Halloween

Well it was another successful Halloween! Aren't they so cute? That first picture is really the only time Bennett smiled. He was a very unhappy caterpillar! In his defense, his costume was very hot and it was 72 degrees outside! Yes, I painted the faces. Obviously I didn't know what I was doing but the kids did not care. We got a lot of wear out of the costumes this year. Yesterday Libby and Nathan each had parades at their schools and last night they all three wore their costumes to Libby's schools Goblin Gala. Happy Halloween and Go Phillies!

Well, lots of thoughts run through my head that I want to get down in writing so today I will pick Bennett. Bennett is sitting up pretty independently these days. He is eating baby food and much less interested in bottles. The baby food/bottle phase is very time consuming. He is so interested in regular food but he has doesn't have any teeth and gags if I cut stuff up super small. He really wants it though. If I give him a banana in one of those mesh baby things he goes to town but he needs to be hosed down afterwards. The only other new thing he does is a clicking sound with his tongue. He is very pleased with himself! My mom is taking credit for teaching him that one. I'm so much more laid back about his development than I was with Nathan. I think he is behind where Nathan was at this age but I guess because I know he will eventually get there, I'm not as concerned. I think I need to be concerned though because he will be a year old soon and all he does is roll and sit. He still won't put any weight on his arms when he is on his belly.

Nathan went on a field trip yesterday with school. I would have taken him out of school for the day had I known they were going, but it was a last minute trip they were able to do for free. It's probably a good thing I didn't know about it because he had fun and he survived. Apparently they took public transportation, the bus and a train to get to the circus. Today he is going to school so he can go to the Halloween party. We gave him the choice of going or staying home and he chose to go. It is surprising because everyday he says-"Is I going to school today?" If we say yes, he starts sobbing. I don't understand why he doesn't like school because everyone I talk to says he is happy during the day there. Libby was always the same way until this year. I don't know why my kids prefer to be home with me! I'm not that exciting!

We have a Halloween party tonight at Libby's school and soccer tomorrow. Next week is GI for both boys, parent group for us and sibling group for Libby at UCP on Tuesday night and taking the kids for pictures again with Carrie Steffe.

Another unanswered prayer.....

Nathan had an appointment this morning at CHOP at the Bone Health Clinic. We scheduled it per Livia Medne due to the change in Nathan's Dexa scan between the one done at CHOP last June and the one done in Texas in August. Unfortunately I didn't realize we had to see the whole team-dietitian, physical therapist, physician and two other people whom I don't remember. As you know I get really uncomfortable with that many pair of eyes on me. There was no real purpose for us to be there but I would have felt like I was being neglectful if I didn't follow up with my questions about the Dexa scan. The doctor said the Dexa from Texas is not reliable because it was a full body scan which I assume is good since the results were not good. Dr. Barsky would like to get another Dexa scan done but we are going to wait to find out what the plan is with Boston because they might want to do a Dexa themselves. I don't want Nathan radiated more than necessary. She kept referring to Nathan having brittle bones. I asked why she says his bones are brittle if the Dexa is not accurate and she just kept referring to his history of fractures. I just feel like we don't have any proof that he has brittle bones. We try to let him be a normal little boy and work towards independence but maybe we can not do that right now. Am I supposed to follow him to the bathroom every time so he doesn't fall off the stool while washing his hands? I can't right?


Anyway, the "team" talked a lot about Nathan's low weight and how adding weight adds to the health of the bones. Dr. Barsky asked if we have considered tube feeding yet and if Nathan's other treating physicians are concerned about his weight. She also asked what the dentist is doing about his teeth (huh??). Anyway, it was just a tiring, same old thing appointment. At the end of the day even if you get past Nathan and Bennett being different we still have to deal with the millions of appointments. They want to do blood work and see him back in 6 months. I think we were supposed to schedule another orthopaedic appointment a while back as well as a dentist appt but who can keep up with all these? Next week it's GI on Wednesday. I just came home emotionally exhausted. It is good to know that the Dexa is an unreliable one even though I don't understand the reason.

Anyway, in the morning I prayed that I would be "good." I prayed that I would have a positive attitude, not be annoyed by being asked the same questions over and over...etc. But I was not so well-behaved. Nathan was playing with a Mickey Mouse children's mask we had gotten from a box in the waiting room. Dr. B asked why he had it and my response...."He is just playing with it. There are no toys in the waiting room so I had to find something to entertain him." Yikes, better luck next time. If Mark had been there I probably would not have said that because he keeps me in line. He tries anyway.

falling

Watching Nathan is truly a harrowing experience. At any moment he could lose his balance and just fall. Last week he stepped up onto the back porch and teetered for what seemed like an eternity! He could have easily fallen back and cracked his head on the concrete, but thankfully he caught himself. I can't walk behind him all the time! Well I guess I do. On thursday he was helping me cook and in a split second he fell of the stool and hit his head on the kitchen floor. It wasn't a bad one I don't think but still upsetting and unnerving. We are now getting ready for church and he fell in the shower and hit his head again. I will be shocked if he does not get a hematoma from this one. I am going to have a heart attack! I have to clarify, but I think Dr. Gordon said that if Nathan or Bennett have any broken bones they cannot start one medication. Once they begin the medication, I hope it works quickly so that Nathan has more mobility and can stay upright! This mornings fall was pretty upsetting.

OMG, OMG, OMG!!! (oh my gosh)

I just received an email from the team in Boston!! They met and would like to organize a conference call between themselves and caregivers down here, pediatrician, CHOP people etc. in order to discuss coordinating care! Yayy!!!!

Livia

I spoke with Livia today about our Boston trip and our good feelings about the place and the people. She had been leaning toward Boston originally but said she will talk with Dr. Zackai and get her opinion again. She also said she would talk with Dr. Garg's team in Texas as an advocate for us, just saying that we are looking to get treatment as quickly as possible. She also agreed with my assumption that the FTI's must have shown some promise in the first trial or they would not have included it in the triple drug trial. Ironically, one of the departments at CHOP (bone health or something) met this morning at 8:00AM for the purpose of discussing whether or not they would be able to treat the boys with the two medications. I don't know the outcome but it is interesting.

Now that it is several days post-Boston I am starting to second guess myself. I asked Mark and he agreed that it did seem they would be willing to treat the boys and the meeting within the next month would just be for them to discuss the specifics. When Livia asked me if they are willing to treat both boys it just made me doubt it. I'm pretty sure they said they would and I am pretty confident that we would go with Boston at this point. It just feels right for some reason.

I also need to confirm this, but I think that Francis Collins from the Human Genome Project is working with the boys cells too (the guy that was on the front of Parade magazine). Also, the cells that went to TX did not grow and the cells that went to Boston did grow so that makes you think too.

big decision

So I am feeling the weight of all of these recent happenings. I have the urge to return to Boston. There is something about that place that made me feel very comfortable. It is the first time I have felt at home with our unusual disorder. I don't know what I will say to Dr. Garg and his team in Texas. I don't know if it is possible to do both. We are not trying to play one team over another or threatening someone into action. We simply want the best for the boys. Livia and Dr. Zackai recommended that we visit both and make a decision. That is more difficult than I expected. Dr. Zackai had been leaning towards TX because Dr. Garg is specializing in the ZMP3*&% mutation. What if we are missing out on an opportunity by choosing one over the other? Why can't we all just work together? I know the answer to that question. So I think I will call Livia tomorrow and try to have an honest discussion with her....and pray that we make the right decision.

I had a bad weekend, boy wise. When we were out today people looked at Nathan and I get tired of the looks. I don't get angry, just tired of seeing people look, keep going and then take a longer look and smile when they catch my eye. I even saw one mom try to get her daughter to stop staring at Nathan. And then she looked at me with apologetic eyes. These people did nothing wrong. I do a double take at people who look different too. I'm also wondering when Nathan will begin to notice that he looks different than his peers. He is a little clueless as are most boys I think. It will be interesting though. Bennett is starting to lose the hair on the back of his head. His hair is still soft like it should be, but it is rubbing off in the back. Perhaps that is why I had a bad weekend. Who knows. I can never tell why one week I feel so great and the next feel so defeated. I guess that is part of the grieving process, two steps forward one step back.

I have a confession to make. Drs. have repeatedly explained the genes, how they make proteins, how there is some type of blob on top........I still do not understand it all. I'm not sure what is wrong with me but it is so confusing to me. I'm not the only one right? Mark says he understands the basic premise. Maybe Wikipedia shouldn't be my go to source for genetics information.

Boston-long!

Where to begin....we drove up to Boston on Thursday night and stayed in Auburn, MA about 45 miles outside of Boston. We drove through much rain, snow and traffic. It was much cheaper to stay outside of the city, but it did backfire on us. In the morning we got lost getting to the hospital and it ended up taking us two hours and we were embarrasingly late for the appointment. We ended up on the wrong side of the city, irritated and snapping at each other. This is the reason we would never ever consider going on The Amazing Race. We would surely kill each other.

Dr. Miller, Dr. Catherine Gordon and Dr. Leslie Gordon were very gracious; however, we were mad at ourselves and have vowed to be better about being on time for appointments. It also limited our time with the doctors so it was kind of a whirlwind. The doctors obtained the medical history for the boys from us and did physical examinations; however, no bloodwork or other testing was done. We discussed about the boys symptoms, which symptoms overlap with classic Hutchinson Guilford Progeria and which are unique to Mandibuloacral Dysplasia. Dr. Miller asked if their eyes are extremely sensitive to the sun and if they sleep with their eyes both of which are true of Nathan. Interestingly some of the patients with progeria are able to play sports, run and jump. Aside from being small, these children are not limited in the same ways with physical activity. The limited appetite is common to both disorders as is the small jaw, overlappping, crowded teeth and obviously their appearance. Most of the children with progeria also don't crawl (which Nathan did not do either).

So here is the scoop. They will try to meet within the next month to discuss treating the boys with two of the three medications that are being used in the triple drug trial for classic progeria which is in the beginning stages. The trial that is currently being completed included only the FTI drug. The boys will not be getting that drug as it is unavailable for off label use. That is my understanding anyway.

So it sounds like we could possibly be starting treatment for the boys with the medications zolodronate and prevastatin within the next several months which is exciting. The one medication is giving through IV every six months and stays in the body for the entire six months. The other is given daily in pill form (crushed up in food for kids). It sounds like we would need to travel to Boston once a year for Dexa scans or every six months for the IV medications. I think I would feel better doing it every six months just to touch base with them. The hospital is alot like CHOP and didn't seem quite as foreign as UTSW (Texas) although that in itself is not a reason to go with one or the other.

So the positives with Boston are we could start almost right away, it is closer and we liked it better. They seem more focused on treatment rather than research and experimentation which is always a better feeling as a parent. For me it would be nice to get to meet other families with progeria. That is if they are even willing to associate with us since our kids life expectancy is 10-20 years longer than theirs. Also the monitoring in Boston would only include physical exams, Dexa scans and monitoring weight gain. In Texas the boys would be put through much more rigorous and invasive testing. When we were there in August they had bloodwork, biopsy, Dexa scan, fat measurements (pinch fat-screaming etc.), tons of pictures etc. Also with Boston, they didn't say anything about photographs so I would assume my little boys would not be found in research magazines, naked with black strips across their eyes. But then again, someone has to be willing to do that so that advancements in medicine can be made; advancements from which we have all benefitted.

Perhaps the research that is going on with Dr. Garg is what will provide the better outcome for the boys though. Boston is focused on classic progeria and although they are very interested and willing to work with us, their primary goal is to find a cure for classic progeria which is different than the boys condition. My understanding is that with Boston, we would have to pay for medications and treatment. I don't know that insurance would cover the expense since it is experimental. If Texas is a research project, I assume there would be grant money that would cover the costs of travel, medications, tests etc. I know that if the medications are thousands of dollars we could put together some fundraisers for the expenses but it is still something to consider. At one point Dr. Gordon mentioned $1000 for 6 months supply and the she said something about $6000 for a six months supply.

I know I am flip flopping back and forth which is probably really annoying to the reader, but this is how my brain is going. I am so jealous of Mark because his brain does not do all this unproductive thinking. He had a peaceful nights sleep except when I woke him up to tell him I couldn't sleep because my mind was racing. His response was a pat on the leg and an "It will all work out." Mark is happy with Boston because they will provide medication sooner rather than later. I am happy about that too, but then the doubts creep in and I worry we are missing out on something. Maybe it seems too easy in Boston. Maybe I am making things more difficult than they need to be.

So I have to let Texas know about our visit to Boston which they knew we were going to be exploring. I am still nervous about their reaction and don't know if we can still do something with them in the future or not. I also have lots of follow up questions for Dr. Leslie Gordon about costs (not that it would prohibit us, just want to be prepared) questions about FTI's etc. What I really want to know is what we can expect in terms of changes with the boys. The other thing swirling in my head is that the clinical trial of which we have been anxiously awaiting the results, only utilized FTI's. If the results are positive it is a catch 22, good news that something is working but bad news that our boys will not be getting it anytime soon. If it didn't have any affect though, then why would they be including it in the triple drug study which just recently began? Plus we don't know if it had any affect on the cells that Dr. Garg and his team treated. We have no idea what medications produced "some response" in Nathan's cells.

This is an picture of the mice with the zmpste24 mutation that have been treated with the two medications, the Zoledronate and Prevastatin. mice I'm not sure why I am bummed today. Maybe I'm just exhausted. Maybe subconsciously I was hoping for reassurances that this will defnitely work. Maybe I am worried about not getting the FTI for the boys. Maybe I just feel like we have such big decisions to make. Please don't judge me and think I am ungrateful. On Thursday when I was at work I was so excited and felt like yelling to the world that we were on our way to have our sons treated! Part of me is feeling sad at letting go of the dream of having a healthy biological child.

nothing new and exciting..

We are getting ready for our Boston trip. I go back and forth between being excited about our trip to being totally blown away that this is our life, going to another state to find out if they can help our kids. It's so surreal. Livia called yesterday and wants to talk before we go so I still have to call her back. Our pediatrician is now in the loop with Dr. Gordon who is also going to email get Dr. Garg and Livia. That would be great to have everyone working together so Mark and I don't have to relay information between professionals. It's like a bad version of whisper down the lane when that happens because I don't understand the information I am passing along.

Bennett was denied for the Synagis vaccine. That is the vaccine for RSV and the insurance company denied payment. This winter season is pretty scary with the risk of RSV, the flu and swine flu. Nathan had his flu shot, Bennett had his first flu shot. He needs two because it is his first time getting the vaccine. If a swine flu vaccine becomes available, I would get it for all three of the kids. It just seems like it's the last thing we need right now. Swine flu is already making appearances in our area so it seems like it may be inevitable.


And in other news, singer Seal and model Heidi Klum had their fourth healthy child!! (sigh) Have I mentioned that life is not fair?

Since that was so negative I will finish on a positive note. This morning I was thinking about Bennett and asking myself, If we knew what we know now, would we have had a third child? and the answer is definitely yes! I wouldn't choose any other kids. These are my kids and this is Mark and my life. I'm not at the "blessed to be the mother of special needs children" just yet but I'm settling in a little bit more. I am feeling better and better about this treatment too. It has got to help improve their health.

halloween preview, Leslie Gordon etc.

So Nathan's Mickey Mouse costume came in the mail today. He was so excited and said "I'm so glad it comed today!" I took a picture of him and then he wanted me to take a picture of his tail! Then he proceeded to hang out and wanted to wear it to the movies. It is really cute with puffy hands and everything.

On to other news. I spoke with Dr. Leslie Gordon on Friday. She started PRF after her son was diagnosed with progeria. She was surprised that Dr. Garg was treating the cells and thought that Francis Collins was treating the cells. I thought so too and was just as confused. She said it doesn't make sense to have everyone doing the same thing. She also said that the cells they received were fine and grew well. Nathan and Bennett will not be able to participate in the clinical trial but we could possibly mimic the trial if our pediatrician is willing. Of the three drugs they would only be able to give two of them, zoledronate and prevastatin. The FTI's are not available for use and the government will not even allow "compassionate use." I am just really confused with all this and want the best possible treatment for the boys as soon as possible. I feel such a tremendous responsibility to get this right. What if we make a mistake? I feel like we are not bright enough to sift through all this medical information and make educated decisions. Please pray for us, that we get headed in the right direction. We have to have to find treatment for these two boys. I refuse to accept that they will get worse. I refuse to believe that they will die before becoming Daddy's. I believe their will be a cure for them.

mountains

Here are some pictures of our trip to the mountains this past weekend. We had a really great time with the Wiand family! Nathan and Libby adore their cousins! We took a ride up to the cabin my parents owned for twenty years. We went up there constantly growing up and had many hours of fun there so it is bittersweet to see it and not be able to go inside. The family picture is in front of that cabin. Don't worry, I will be tossing the sunglasses. Mark told me they looked like Elvis but I didn't believe him. Nathan hated riding on the back of Mark's bike. I'm sure Mark taking off like 'a bat out of you know what' didn't help him get used to the idea. Libby rode almost 6 miles and did not complain once!

Bennett had his 9 month check-up today. This was the one that was rescheduled because I was ten minutes late to the previous one. Meanwhile this time I had to wait 45-50 minutes for the doctor. Bennett weighed 14 pounds 7 ounces which is okay. He is 26.5 inches long. He received several shots and there was nothing else new and exciting. Dr. Lockman didn't seem as excited as I am about the "some response" report. I guess he doesn't want us to get our hopes up. I just keep thinking it is better than "no response so far" or "minimal response." Everywhere I take the boys, people comment on how much they look alike. It is so ironic since I have craved that so badly but yet I don't want Bennett to look like Nathan. It pains me everytime I hear someone say those words.

I have so many more unanswered questions from Texas but the news of "some response" will keep me satisfied for a little while.

"some response"

I sent another email to Texas asking for an update on the cell growth and if treatment began on the cells yet. I'm sure it was a rather snippy email because I stated that we had not had any updates since we were there end of august. I received an email back saying that the cells are growing (yayyyy!) and treatment began recently. There has been "some response"! Oh my gosh!!! What does that mean? How much "response"? What is the "response"? Dr. A said the lab would only say that and that they will be giving it more time!!! How exciting!! And nervewracking!!! Now how I am I supposed to focus on packing for our mountains trip with such exciting news????

ETA: This is especially good because it is the boys cells, not a mouse model of Mandibuloacral Dysplasia but the actual cells from the boys!!! That is just my assumption based on common sense. I cannot get my hopes up right? Oh yes I can!!!