Kindergarten here we come!

Today was Gabriella's first day of Kindergarten. There has been such a build-up to this day, that I'm feeling a bit of a let down right now. Everything went fine. We read the Ready Confetti poem last night and sprinkled the confetti all around her bed.

And we also began what will be an annual 1st day of school tradition: A Kindercone. This is a tradition in Germany that my friend Cheryl told me about. It's kind of like a mini personal pinata. A cone, filled with goodies and trinkets to celebrate the start of school each year. David helped me make and decorate it, and we filled it with the small Target $1 aisle type gifts I keep on hand, and a special new book: "Tea for Ruby". Gabriella loved the Kindercone!

Then, after dropping Nicholas to play with his good buddies Abram and Micah, a few transportation glitches led us from waiting for a CTA bus (remember all those stories?), to getting in a taxi, to ditching the taxi and walking the rest of the way. Let's just say 1, 600 students being dropped off at one school, at the same time can cause alot of traffic chaos. Anyhow, we made it just in time, and Gabriella loves her teacher. She had met her a couple of times before, and on Sunday she made her a card which she gave to her today. I forgot to scan it, so I quickly took a picture of it when she got it out of her backpack this morning. So innocent and sweet is my daughter.

She can't wait for the first "real" day tomorrow. Today was a only a few hours and the parents accompanied their children for part of the time. Meeting the other parents of supposed "gifted" children is always very interesting to me. So many of us have alot of commonalities, yet very stark differences too. It's also interesting to watch the children and how different they are. Even more amazing is to think how smart all of these kids are at such a young age. They will be delving into 1st grade curriculum as though it's normal, and studying Mandarin Chinese for one hour daily. It's also amazing to me that the teacher can control and teach 30 kids like mine, by herself, all day. Wow. Not a job to be taken lightly. Thank a teacher the next time you see one. Especially if they work for CPS where the student:teacher ratio is so high (30:1).

The saddest part of my day was not letting go of my little girl who is growing up. The saddest part of my day was when I had to make sure Gabriella's teacher knew that she has a 504 plan. I put it off until we were leaving and Gabriella was nowhere near. When I told her about it, the teacher's response was, "Oh, does she have Asthma?" I wanted to cry. I did cry inside. After a 60 second run down on Marfan Syndrome with a "don't freak out" emphasis, the teacher was interested to read about it on the website, in addition to learning Gabriella's specifics in her 504. I had already written www.marfan.org on Gabriella's getting to know you sheet that we had to complete this morning while there.

So why does this make me so sad? Have I still failed to "get over it", and not accept what our future is? No. What makes me so sad is that my daughter can never again just be that sweet, cute blonde girl that likes pink, purple and blue. She has to be singled out from the start. She can't just be one of the kids in room xxx. I despise doing this. Setting her apart from the beginning just seems so unfair to me. She can never just be Gabriella to her teacher. Her identity is, Gabriella the girl with the heart problem and other issues from that weird syndrome I had never heard of, Marfan. This is much worse than letting my baby grow up and go off to Kindergarten. So bittersweet was the end to a great first day of Kindergarten for me.

In spite of my issues at the end of the day, Gabriella will be wonderful and will thrive in this environment, I can tell already! She will create for us daily, stories and pictures of her life as a Kindergartener, and I'm sure I will share some of them here. So for now, enjoy the shots of her new backpack and 1st day of school outfit!

And BTW, big kudos to the staff of our new school for taking the professional aspect of your job seriously enough to not dress like the latest teen pop-star. The teachers and administration all dress better than most corporate workers these days. I love it. David was even mistaken for a principal by one child, since he was wearing a suit. I'm pretty sure the real principal gets credit for the tres chic dresscode. My daughter will respect all of you so much more for the way you dress as her teacher. Oh, and me too.

With Papa

Drawing her self-portrait

Giving her teacher her card

With Mama

Sporting the new monogrammed backpack
Opening her Kindercone!

Hot town Summer in the city

This song is all I could sing after driving down a certain street in my Uptown neighborhood, on the way home from rehearsal tonight. Gang bangers were swarming everywhere. Seriously. This has got to stop.

But I do appreciate the great song by lovin' spoonful being stuck in my head. What happened to bands like this?

Here's your chance to tell me what you think of me

I am so excited that I was recently selected to do a little writing for CP magazine, my favorite parenting magazine in Chicago. I now have to come up with my official writer's "bio" for print. It's brief--I only get one sentence.

So help me out, please!

Describe me and/or my parenting style in three words or less.

Maybe your words will end up in print, or not.

Thanks everyone!

Devils or Angels?

The 52nd annual Chicago Air and Water Show just took place this weekend. For us Chicagoans, that means 4 days of feeling like we live in a war zone--or at least on a military base. (Two days of practice, two days of the show). And no, we did NOT go to the show. We only heard/saw from our house, the car, or a few times we got caught outside.

Poor Nicholas wants to love the Blue Angels so badly. He thinks watching them is amazing--through soundproof glass. He is terrified of their noise though. And I don't mean sticking his fingers in his ears for a moment. I mean he holds his hands over his ears, screams "hold me safe", suctions to me or David like a spider monkey, won't go outside, has night terrors where he does the same, and now thinks every plane going to O'Hare is a Blue Angel.

This is a problem.

We live in the flight path to O'Hare, and planes fly over us about every 3-4 minutes. It is so bad that after searching online and still being dumbfounded, I called the pediatrician. The boy has been traumatized--and I don't use that word lightly.

I usually only seek medical advice from the peds, but I need help--and hearing is medical, right? Help!

They are definitely devils, not angels.

A first for us

So after all these years in Chicago, we have just become members of one of the "Museums" for the first time ever. Most of you know, I am a big fan of utilizing free things in the city, especially the Museum passes we can check out at the library.

However, the Shedd Aquarium, has limited their participation so much, that you can only have access to a small portion of the place when using the museum pass. So when my parents visited a few weeks ago, it was literally almost the same cost to buy a family membership as it would have been to purchase tickets for all of us. So we broke down and joined. Mom and Dad even gave it to us as a gift, and we will be using it alot-thanks Mom and Dad! Both Gabriella and Nicholas love the aquarium. And I must admit over the past few years, they have made some great improvements, and the new show Fantasea is spectacular! I describe it as Cirque du Soleil with animals.

This winter, it will undoubtedly be a favorite destination for us. And since we can admit 2 adults and up to 4 kids, we can take friends. Let us know when you want to go...

The Pampered Baby

So, since birth, my kids have all been diapered in Pampers brand. First swaddlers, then cruisers, then easy-ups.

Then P&G decided to rock my world, and a whole lot of other parents too. At first, I thought I had purchased a package of defective diapers, only to learn that I was holding in my hand one of the first "new-improved with Dry-Max cruisers". I was livid, so what do I do? First, I go to the P&G website, only to find out that I'm not the only mom who thinks the new cruisers suck! Second, I start desperately searching the diaper aisles of every store in the city for the "old" cruisers box. And I will admit, I even opened a few just to make sure before I bought them.

So Pampers/P&G decided to remove the mesh liner. Hello? This is the main reason most people LOVE cruisers! Secondly, they thinned the diaper out so much that it is literally transparent on the backside. What a joke. Leaking, rashes, night wakings. Ugh!

How does this story end? Well, despite the hoards of phone calls, e-mails, website postings, facebook wall postings, etc. P&G went through with the full product line change and lost alot of customers along with it. The fall out, well you can read about it on just about any of the hundreds of thousands of hits that will come up if you google "pampers dry max problems". Here's just one to leave you with: Pampers dry max

So my personal life was changed by this, several months ago. The Pampered baby has been trying out all other diaper brands. Once I find my favorite solution (which just might be big boy underwear!), I'll let you know.

Have Heart

The last six weeks or so has been a very emotionally turbulent time for our family. Some of the fog is lifting now and I’ve decided to come to terms with this reality and even blog about it. I just joined the facebook group “National Marfan Foundation” so everyone will know soon. Through a series of medical visits and tests over several weeks Gabriella was clinically diagnosed with Marfan Syndrome on December 11th and then genetically confirmed on Christmas Eve. February is National Marfan awareness month and their annual Have Heart Campaign as well, so I thought the timing made even more sense to talk about this now. David and I are still adjusting to all of this, and Ella too of course so bear with me if this blog post is a bit rambling in nature.
For those of you that have no idea what Marfan Syndrome is please read some good excerpts I have selected for you from the National Marfan Foundation website here: http://marfan.org/marfan/2280/About-Marfan-Syndrome and here http://marfan.org/marfan/2416/Cause/ and here http://marfan.org/marfan/2320/Features and here http://marfan.org/marfan/2415/Treatment and here http://marfan.org/marfan/2439/Living-with-Marfan-Syndrome

So now that you’ve educated yourselves a bit about Marfan Syndrome here is Gabriella’s current condition. She has all of the classic physical traits of Marfan including tall stature, long wingspan, long limbs and fingers. Her current skeletal involvement is flexible flat feet and pectus excavatum (sunken chest). Her chest is mildly sunken and we’re hoping that does not change. It can affect the heart and/or lungs, which are behind that cavity of the chest wall. No scoliosis right now which tends to be seen in a lot of the children with Marfan. Her current Ocular involvement is myopia and astigmatism. She was just at the Ophthalmologist and her lenses look right in place! Her lungs are normal as far as we know. We just must remain alert for pneumothorax (sudden lung collapse) or any type of breathing issues (asthma, emphysema, etc). Her current Heart and Blood Vessel issues are the most worrisome for us right now. She has dilation of the Aortic and Pulmonic Roots and Mitral Valve Prolapse. The Pulmonic dilation doesn’t seem to bother the Doctors as much since the Pulmonic valve is a low pressure one. The Aortic dilation is more problematic since it is a very high pressure valve where the blood leaves the heart and pumps out into your body. Though researchers are trying to figure it out, right now, there is no way to stop the dilation. We can only hope to achieve a slower dilation rate by having Ella take a beta-blocker, Atenolol, which she began within a few days of being diagnosed.

Besides being variably expressed from one person to the next, Marfan is very unpredictable. For us right now this means there is no way to know how her current body system involvement will change throughout her lifetime. And right now it gives us no way to estimate how quickly her aortic dilation will progress. We are hoping for a very slow growth that might take her as far as early adult years before surgical repair is needed. We’re also hoping that a current clinical trial will show that a different drug (Losartan) proves to be effective at stopping the aortic dilation, though feedback from the study Doctor is not promising and it seems as though it is only working on some people, not everyone. We want the miracle drug, of course. Maybe Losartan is it? We just don’t know yet. We are hoping to enroll Ella in the trial soon. Her “z-score” is 3.02 and anything 2.0 and below is normal. However her actual measurement in centimeters just missed getting in the trial. She will get an echocardiogram again soon and they felt confident she would qualify. We really want her in the trial, but we also don’t want her aorta to dilate rapidly. We are talking only 2/100ths of a centimeter that she missed it by though.

How is this affecting us? As parents, David and I spend a lot of time talking about medicine, medical appointments, medical bills, getting Ella to take her medicine, medical research, medical testing, etc. We’re trying to get used to the fact that our daughter has an imperfect heart and body and a geneticist and a cardiologist. As parents it’s so easy to assume your children are physically perfect and when you find out they are not it’s pretty tough to handle. It’s still a bit surreal though becoming more of a reality almost daily. We are so thankful that in our lifetime they have discovered so much more about Marfan Syndrome. When we were children life expectancy used to be half of what it is now—about age 35. It’s now almost normal with appropriate care: age 70. We have also been spending time trying to educate ourselves on the signs of Aortic Aneurysms and dissections since it is so important to seek immediate care for Ella if we see any signs. The NMF gave us a special notification card that we can take with us to the ER. One of the problems is that a lot of doctors are not familiar with Marfan Syndrome and they send people home who then die because they had an aortic dissection that was missed. So we get to educate the doctors! I’m sure that goes over really well when it happens…. Personally, I spend a lot of my free-time reading abstracts from medical journals and wishing I had paid closer attention to genetics in biology class. Though my professors would probably be impressed already by the knowledge I’ve acquired in such a short-time. One thing I’ve learned quickly is that nothing is impossible or absolute with Marfan. Even the experts will always qualify everything they say with “most of the time” or “in patients I’ve studied” or “I just don’t know yet.” You see (if you want a little genetics lesson continue reading if not feel free to skip over the next paragraph.)

In 1991 they discovered that Marfan comes from a mutation on the Fibrillin-1 gene (FBN1) (I have actually found a dispute about this though) but also has relativity with the Transforming Growth Beta Factor (TGBF) genes, both of these genes are found on the ever so puzzling Human Chromosome 15. Yes, THE human genome Chromosome 15. In spite of all the news we hear about it, geneticists still only know the equivalent of about a drop of water in the bucket (and this is from the geneticists mouth) when it comes to Chromosome 15. We also now have a lot of cancer researchers interested in helping with Marfan research because they know so much about the Transforming Growth Beta Factor gene. And I am completely ever thankful and devoted to those men and women that spend every day of their lives trying to figure out more about the connective tissue disorders and the Marfan genetic coding and mutations. Again, yes that was plural. There is not just one mutation. So far they have recorded I want to say between 300-500 mutations of the FBN1 gene without looking it up again. And here is the kicker: Not everyone with Marfan even has a mutation. Gabriella was clinically diagnosed and followed-up with the DNA Analysis testing at a Connective Tissue Specialty lab. She does have a mutation on the FBN1 gene which just further confirms their diagnosis of Marfan. So Marfan being an autosomal dominant disorder made us crazy compiling our family health history. Thank you to everyone involved! The geneticist seemed convinced that Marfan was running in my family through my Mother’s side. And quite frankly, so are we. However, David and I were tested through the quick (and much cheaper) test called linkage analysis. So they basically took Ella’s mutation and checked each of our blood samples for the exact same mutation she has. This is because it is most common for family members to have the same mutation. Well guess what, we don’t! Surprise! Nothing in genetics is thorough or definitive when it comes to the human genome C 15, FBN1 TGBF-1 and 2, etc. They just don’t know enough yet. But nobody is convinced that I do not possess some kind of related or unrelated Connective Tissue Disorder (CTD), or even Marfan. Through the NMF I was able to contact a Marfan expert who said it would be very rare for me to have another CTD and then pass Marfan onto Ella. So we are thinking maybe we are the uncommon ones and have more than one FBN1 mutation in our family, or maybe I just don’t show the mutation but others in the family will, or God forbid, maybe the lab screwed up or the test was inaccurate? (I’ve read stories about it and it does happen). The next step is to run the full DNA sequencing on me, and also my aunt who has already had a dissection will be going through genetic counseling and testing as well. Hopefully this will provide insight into our familial genetic line of Marfan or possibly something else. Bottom line is that neither the doctors, nor we think Ella is one of the spontaneous mutations. They actually most often arise when the father is of very advanced age upon conception. They know this because they have determined the spontaneous mutation happens on the X not the Y and have studied all of the documented spontaneous mutation cases. David had just turned 35 two days before Ella was born. Of course all of the spontaneous mutations are not in this category though. Now some of you might be thinking why do you care if she inherited it through your genes or a spontaneous mutation? Here is the biggest reason why… Nicholas.

Right now we have no idea whether or not Nicholas might have Marfan due to all the inconclusiveness in the paragraph above. They have not ordered any testing on him at all. Now we completely realize he doesn’t have any physical traits like Ella. The sweet boy is small! He can barely stay on the growth chart for height and weight! He does have mild pectus excavatum though. He has also had a heart murmur since birth though the pediatrician said it has been soft or not really heard at his last few well-visits. Sadly in the past few weeks as we have studied Marfan, we have become way too aware that you can have Marfan without having the physical traits. We are also aware that mitral valve prolapse can cause heart murmurs. We are also aware that Ella’s cardiologist calls her a “click” exam which means she can hear the click of the mitral valve prolapsing upon exam. The pediatrician never heard it. Another reason why we need to know where this all came from is myself of course, and my family at large which entails 9 children (my aunts and uncles and Mom), their children (my cousins) and all of their kids too (Ella’s cousins). They did order an echocardiogram on me since I had never had one. David had just had one done in September due to his family and personal heart health history (he does them regularly). His was fine. My aortic root was within normal measurements and I do not have mitral valve prolapse. They were unable to visualize my ascending aorta though. So now I’m a bit nervous about that since I know that most Marfan dissections take place on the ascending aorta.

Gabriella has been so strong and so messed up through all of this. She won’t really talk to us about it, but asks to read her Marfan A-Z book almost daily. What a great book that the NMF provides free to children diagnosed with Marfan! She gives echocardiograms, does blood draws, and measures all of her dolls and stuffed animals, and her brother or other people that come to our home. Clara, her American Girl Doll was taking her Atenolol the other day. Only hers was strawberry flavored. She had to take it for the same reason as Ella. She holds Twinkle Stars Gymnastics class in our house with Nicholas as her student almost daily. She of course gets to be Miss Jessica the teacher. Gymnastics is the one thing she had to stop doing immediately because of her physical activity restrictions. She just had her first visit with the child/adolescent psychiatrist and it went really well. During the time I was with them Ella spent most of the time playing with the dollhouse and not answering questions. While I was gone she played with the doctor kit and the two of them were helping the baby with Marfan. After spending time with Ella alone, doctor told me that her verbal speech, communication skills, and general interaction were of someone well beyond her actual years. All I thought was dear God, please tell me the IIT Psych student figured that out too! You see, she just survived Kindergarten placement testing (basically an IQ test administered by the IIT Psych Grad students). She told us it was “mostly easy and just a little bit hard at the end”. We’re hoping for spectacular results and to get one of our top choices of schools. We don’t find out until late March. So we’ll be seeing the psych doctor about 2 or 3 more times. She seems confident that Gabriella is dealing with all of this in normal ways and has already given us helpful ways we can deal with some of the issues. Of course Ella’s behavior at school continues to be perfect through all of this. On the home front it’s a bit different though. She’s definitely lashing out at us with anger because of her bottled up emotions. She is very disobedient and spends a lot of time in time out and losing privileges. We’re really hoping the psychiatrist can help us repair this too. I know a lot of people from our generation and even more so from our parent’s generation would never dream of sending their child to therapy and have huge (unfounded) issues with psychiatry. We, however are believers in getting help when needed and boy is it needed. We and Ella must learn to deal with this now since it is here to stay for her lifetime. As Ella gets older things will only become harder for her. She will deal more with teasing, questions (why can’t you do what we’re doing in gym class today?), feel left out when she can’t participate in a lot of physical activities her friends are (like the Jump Zone party coming up), and eventually be faced with heart surgery, the knowledge that more things can go wrong in many different parts of her body, and some day the issue of having children of her own. Genetically her odds are 50/50 to pass Marfan on to her children, and physically due to her aorta problems pregnancy will have to be evaluated when the time comes. Some people with Marfan and aortic problems can have fairly normal pregnancies though they must be closely and frequently monitored, others are advised never to become pregnant. It is truly a case by case basis and only time will tell. As a woman, I know this will be a very difficult topic for her to face in the future even as she becomes involved in serious relationships, telling people and facing whatever the reality will be for her. Right now, physically, her biggest challenge is tiredness and loss of appetite. She will often nap and falls asleep very easily (i.e. 10 min.+ in the car and she will be out). We will continue to have trouble finding shoes and clothes to fit as we always have so that is nothing new! She very rarely is interested in eating though and says she is just not hungry.

So this is more like an essay than a blog post. If any of you have read on through to the end I appreciate it, but it was good for me just to “talk” about it. I’m sure there are a million and one more things I could tell you but will close for now. I predict many future posts on this topic.

We are so blessed with great family and friends who are being a great support through all of this. We so appreciate the phone calls, e-mails and prayers. So everyone please “Have Heart” for Marfan, for Gabriella and our family and all of the others affected by Marfan Syndrome. If you are able please consider a donation to the National Marfan Foundation through my First giving page in honor of Gabriella and her diagnosis. Your donation will help fund research that is so important us, to Ella and to everyone with Marfan Syndrome: http://www.firstgiving.com/gabriellaearnhart or use the widget in the sidebar.