September & October Pictures

Myotonic Dystrophy Foundation Conference in CA

In the beginning of October, Dave, Kate and I flew out to LA to attend the Myotonic Dystrophy Family Conference. We were excited, yet nervous, about being confronted with the disease so directly, but know we definently made the right decision to attend. We met many wonderful families, got "best practices" from experienced parents and learned all about the latest research from the experts.

One of the biggest things that we walked away with was the fact that there is no "road map" that tells us where Kate is headed or what to expect. We know that she will continue to see specialists for eyes, heart, digestion, orthopedic, neurology and genetics as well as physical, speech and occupational therapists. We still don't have DNA-tested answers for our family genetic situation, but we aren't rushing into this area since I and Charlie are symptomless.

One of the most exciting parts of the conference for me was getting to meet Lisa Vittek, the Director of the Myotonic Dystrophy Foundation (MDF) and mother of Kayla, a 4 year old girl who also has CMMD (Congenital Myotonic Muscular Dystrophy). The day that Kate was diagnosed, Lisa found my announcement post on this blog and left a comment for me, reaching out her hand in support. When I discovered it later that night, I cried and closed my computer. At the time, I just wasn't ready, but a few days later, I realized that this diagnosis wasn't going away and I needed to learn everything I could to help my daughter make progress and stay healthy. It was so nice to finally meet her and her family at the conference and spend some time talking. I even got a hug from Kayla the night before we returned home. We also met a sweet little girl, Raina, and her family. Raina had the same start that Kate has had and is now 7 years old. She is walking, talking and has the most adorable face. I've posted some pictures of the families we met.

Even though this was a "medical trip," Dave and I really enjoyed our time. Kate is such a laid-back baby, we even took her on a tour of Hollywood. It was fun to see the stars' homes and visit all the iconic sights. Charlie had an awesome time with Glamma, Uncle Luke, Aunt Karen, Cousin Grace, Aunt Jenny, Uncle Tommy and Cousin Josh....thanks for making his time away from us so special and fun!

If you are looking for more information about this disease or how you can help, check out www.myotonic.com, the website for the Myotonic Dystrophy Foundation. Dave and I are talking with MDF about how we can be involved. Check back soon for our plans!

Busy Times

It's been a busy month in the Conte household.

Dave and I celebrated our 5th wedding anniversary on Sept. 4th. We got to spend a little time with Deeks and Dianne when they came to visit and stayed at Marriott Sawgrass. Charlie loved the pool time and the playground! Kate was content hanging out in the shade. We even ran into our good friends, the Davey family, out there. That same weekend, Aunt Jenny and cousin Jordan came to visit. Charlie was SO sad when Jordan had to leave...he hugged her tight and said "Jordan stay."

Shortly after Kate was diagnosed, we learned that my dad had kidney cancer. This past Tuesday, he had surgery to remove his affected kidney. He is now at home and recovering well. The surgeons said everything else looked good, so they are hopeful that he stays cancer-free.

Charlie started 2 year old preschool twice a week and finally had his first day with a"no tears" goodbye. He turned around, smiled and blew me a kiss....now, I wanted to cry!

Kate turned 4 months old and has continued to get good results from all of the specialists she is seeing. She is making great gains in Speech (feeding) therapy and can now take a bottle almost like a normal baby. She is working hard at physical therapy and her PT now comes to the house twice a week to work with her. Kate responds very well to her and her strength is improving. She actually lifted her head off of the floor by herself for the first time! Her little foot has decided it wants to continue to turn in (even after casting), but we are hopeful it will correct before she is ready to use it to move around. She is such a sweet little girl and LOVES to look at faces. She is growing and has reached the 25th percentile...hooray Kate!

October 1-5, Dave, Kate and I are attending the Myotonic Dystrophy Foundation Family Conference in Manhattan Beach, CA, so we can learn everything we can about this disease and how we can help our little Baby Kakes grow and prosper! Charlie has a date with several relatives while we are away so he can have some fun!

It's been quite the whirlwind since Kate's diagnosis in August and I know many of you are wondering how we are doing. The best way I can explain it is this: it's a grieving process. We have been through several stages of this process already and have basically come to the conclusion that no matter what, Kate is our baby girl and was born into our lives for a special reason. We will do whatever it takes to get her the best possible care and love her as much as we can. Learning that she got the disease from me has been quite unsettling, but even more concerning is knowing that there is a chance that Charlie might have it as well. This is a wait-and-see disease, so only time will tell. Having said all this, we still have our moments when we mourn and have a good cry, but overall, we are doing great. We are taking one day at a time and trying to live life as normally as possible. We love spending time with our family and friends!

First Day of 2 year old Preschool

Charlie was so excited about starting school that he didn't fall asleep until after 10pm last night. We packed his backpack and his lunchbox, set out his "first day of school" clothes and "school" shoes, and put together his little bag of gifts for his classroom (Lysol wipes and yummy "safety-pops"). He was chanting "school, school, school" on our short little drive to school and walked in all smiles while holding his daddy's hand! When daddy turned to leave though, poor Charlie wouldn't let go. After his sweet teacher pried him loose, we said our quick goodbyes and stood silently in the hallway (out of his sight) until we couldn't hear him crying anymore. No tears from mommy or daddy (we were trying to be tough), but daddy felt really bad!

Poor little Kate got toted along on this little outing, but was a good sport. I'm sure Charlie is having a splendid time, playing with his friends Caroline and Ethan and others he is meeting for the first time today. Only 40 minutes until I get to go pick him up...I can't wait! Hopefully Thursday will be an easier goodbye, as only mommy and Kate will be dropping him off at school...we'll see!

"Mac" Truck Boy

Oh, the love of a two year old boy...he is completely obsessed with "Mac" trucks. He plays with them at home, begs to buy them at stores, looks for them on the highway and complains when they don't have trailers attached to them. Daddy, of course, LOVES this stage of Charlie's and plays "trucks" with him all the time.

Well, thanks to my cousin Darin, from Alabama, Charlie got to ride in a real "Mac" truck (it was even red, like Mac in the Cars movie). Darin came to visit the past weekend and brought his truck with him. After a delicious lunch at Aunt Sue's house and a visit with all the Roy/Green relatives, Darin let Charlie ride in his big truck all the way to the truck stop, where he parked it. Charlie was a little nervous, and sat quietly the whole trip, but his eyes were big and full of excitement. Needless to say, it has been the topic of conversations with Charlie and he is already asking when he can ride in Darin's truck again! Thank you Darin for making my little boy's day!!!

Diagnosis at 3 Months Old

Well, yesterday Kate turned 3 months old. My sister-n-law helped me take her 3 month pictures in a sweet little dress (given to her by my other sister-n-law) and wearing a cute matching barrette (made by my sweet friend). She looked so adorable and we finally got a picture of her little smile.

Today, we finally received a diagnosis for Kate's condition. The Neurologist told us this morning that her DNA test for Myotonic Dystrophy came back "abnormal" and she has Myotonic Dystrophy (DM 1). The emotional stress we have endured today has not been easy, but we are trying to keep in mind the comforting words the Geneticist told us a couple of weeks ago before the results were back....treating the patient and not the disease. He told us to look at the progress she has been making over the past month and not to focus on all of the negative things about the disease that may or may not affect her. Dave has done a lot of reading today (I'm not quite ready for all the scary facts). Since this is a hereditary disease, we will have to see the geneticist for family genetic counseling.

I know it will take some time for us to process all of this, but we wanted to go ahead and share her diagnosis with all of you that have been praying for and thinking about Kate and our family over the past three months. We know that God has a special plan for Kate and I feel blessed to spend each day with her. The road ahead may not be predictable, but we will do the best we can to continue our family life as normally as possible. Thank you all for your continued prayers, love and support!

Dave, Elizabeth, Charlie and "Baby Kakes"

PS- Dave sent the message below to his family this morning:
As you all know by now we got the diagnosis we have been searching for since Katherine's birth. While it wasn't the one we wanted, it is what it is and we will deal with it. With that said I get a lot of questions as to what is DM1 ( Myotonic Dystrophy type 1) ? Well, I have found 2 links (from the same site) that explain what it is globally and more specifically what hers is. She has what is called congenital DM1. So when you are reading you can sort through what to read and so forth by only reading about the congenital. While there are some disturbing things you will read we are hopeful she will be better than all those. Unfortunately we are left with watching her as time goes and handling the issues that arise one at a time. Enjoy!!!

http://ghr.nlm.nih.gov/condition=myotonicdystrophy

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonic-d

Making Progress

Our little Kate is making progress and we are so thrilled to watch it all happen. Her muscle tone has been improving some and she is trying to put her hands in her mouth quite often. Her feeding has improved some and at times, she can suck on her bottle with very little help from mommy. So watch out daddy, it is going to be your turn to feed her soon! The feeding/speech therapist told us today that she won't need to see us again until next month...hooray! Lifting her head is still a big struggle for her, but her physical therapist is teaching us new exercises every week to help her strengthen these muscles.

We met with the Geneticist last week, and had a great 1 1/2 hour conversation with him. He was very positive with us, which helped us walk away feeling positive. He basically told us that even if she ends up being diagnosed with something down the road, that it is not a "sentence," but rather some insight to help her. He told us that we need to focus on the progress she is making and gave us many examples of patients who have exceeded the dignosis' expectations. So, with that said, we are still a little nervous about our appointment with the Neurologist this coming Wednesday, where we should find out the results of the Myotonic Dystrophy DNA test, but are hopeful that she continues to improve.

The orthopedic doctor had us try some special shoes attached by a metal bar to help correct her positional club foot, but they gave her a bad blister. So, at our visit last Thursday to Nemours, the doctor casted her left leg/foot. She will wear this cast for the next three weeks. We are hopeful this will do the job!



Grandma (my mom) and Glamma (Dave's mom) have been helping out SO MUCH with Charlie during all of these appointments for Kate, and we are so grateful that they live near and have flexible schedules. Last Thursday, we all got to go to Chik-fil-A together.



Thank you all for your love, support and prayers!

Good News!

We finally received the call we have been anxiously waiting for since Tuesday....and good news- Kate's brain scan was normal, so no surgery needed. Hooray! We also received news that the DNA test for Prader Willy came back negative, so we are very relieved. Kate's therapists also feel like she has shown some improvement in her feeding skills as well as her muscle tone. She got her new orthopedic shoes and brace yesterday, so she is now sporting a new fashion trend (well, I don't think anyone will want to copy this trend) and she doesn't really like wearing them. We are now waiting on results from the DNA test for Myotonic Dystrophy (which we don't expect to get for at least a few weeks) and her thyroid blood test.

Our BIG celebration at home has been that Kate has become a little more alert and active and even gave Mommy 3 smiles in a row after her 5am feeding the other day. Mommy was so excited, she cried! Oh, Katie-bug, we have been waiting to see that beautiful smile...thanks for finally sharing it!

We are getting a true lesson in the virtue of patience! For now, we will continue to go to Kate's weekly therapy appointments and doctor appointments, swimming lessons and playdates for Charlie and try to be a normal family. We have such supportive friends and family, which makes this journey we are on right now go a little more smoothly. Thank you all for your love, support and prayers! We are hopeful that we will continue to share only good news from now on!

The Latest on Katherine

Dave and I have decided that we need to start keeping everyone updated on the latest "Katherine" news through our family blog. This will help us share the news on a timely basis without repeating ourselves over and over.

At her neurology appointment on Tuesday, the Dr. decided to do further testing based on his observations of her. They are completing 2 DNA blood tests to test for Prader Willy and Myotonic Syndrome. We won't know the results from these 2 tests for a few weeks. She will also be having an ultrasound on her head/brain this coming Tuesday as they are concerned with the increase in size of her head and lack of closure of the soft spot. We should get the results from this test relatively quickly. On a positive note, she has continued to gain weight.

In the meantime, she will continue her weekly physical therapy appointments and her bi-weekly speech (feeding) therapy appointments. Poor Charlie thinks that every time we leave the house, we are going to the doctor. We are trying to live one day at a time, even though our parental instincts push us to google for the latest information or take our thoughts to what the future might hold for our little baby and our lives. We have taken a couple of vacations with our families this summer and are attending as many playdates as our schedule permits, so that Charlie gets to have a little fun.

Please know that while many of you will ask us "how are you" or "what can I do to help" our general response will most likely be that we are "ok" right now. This is only because we are just trying to live life the best way we know how right now...by continuing to be a family and spend as much time with our children, friends and family members as possible, hoping to find some normalcy to carry us through this stage of our lives. This roller coaster ride has been full of ups and downs and it has been very helpful to know that we have so many caring family members and friends surrounding us with love, prayers and support. We ask that you continue to pray for baby Kate, wisdom for the doctors, and peace for Dave, Charlie and I.

Our Family Picture

Charlie & Kate

We brought Kate home from the NICU on Friday and Charlie was very happy to finally have his sister at home. Of course, we have spent a good bit of time teaching Charlie that Kate cannot eat chips and poptarts, drink juice or be covered from head to toe with a blanket. He has been a great helper by telling mommy when she is crying and needs to be picked up, assisting with diaper changes, wanting to pour water on her during bathtime and covering her toes with her blanket. Mommy got permisson to drive from the doctor now, so we went on a little "date" (just Charlie & Mommy) tonight to Publix and bought a special treat from the bakery (a big m&m cookie). He even told the cashier as he held his cookie box "special treat Charlie." It's amazing how grown up he seems to us now that Kate is home. How time flies!

Katherine Elizabeth Conte

Well, folks, sorry it took so long, but here she is...

Our precious baby girl, Katherine Elizabeth Conte, was born on Monday, May 11th at 8am, weighing 6.5 pounds and measuring 19 inches. She has been through quite an ordeal since that time, but we know that prayer works and hope that she will join us at home very soon!

Spring Time Fun

I haven't posted any new pictures in a while...much to my husband's dismay. He begged me to PLEASE update the blog and NOT facebook. So, here are some pictures of what we Contes have been up to this spring. With only 2 days to go until Katherine's arrival, I decided now was the best time to stay up a little late and check this "to do" off of my list that never ends.

By the way, you'll have to visit the blog again soon so you can see some snapshots of our baby girl whom we cannot wait to meet!

Choo-choo!

We decided to take a "last hoorah" trip this past weekend. We wanted to have one last special memory of just the 3 of us, before Katherine arrives and makes us a family of 4. So, we decided to thrill Charlie by taking him for his first real train ride. We traveled down to Parrish, FL (just south of Tampa) to the Railroad Museum and hopped aboard for a steam engine ride. Of course, Charlie was thrilled and loved it when the engine whistled and let off steam.

We topped off our weekend with a visit to see "Deeks" and company in Tampa, where Charlie had a blast playing with Diane's 2 girls, Emma and Olivia, and particularly all their girly toys! We couldn't convince him to play in the bounce houses at Jungle Bounce, but he had fun just running around in circles and playing with the water fountains.

On our way back to Jax, we stopped by Glamma's house for a delicious dinner with Glamma, Jack and Maw Maw. We even got a great view of the space shuttle launch in the colorful sunset sky. Charlie, of course, barely noticed the shuttle launch, as he was busy devouring his St. Patty's cupcake Glamma got for him!

I wouldn't wish this on my worst enemy!

We are still trying to figure out who was the most traumatized...Charlie, Mommy, Daddy or poor Jack the dog...

Tuesday night around 7pm, Charlie took a very hard fall on our kitchen tile floor. He was amped because he had just waved hello to daddy in the front window and was running to greet him at the door, when he and our dog Jack crossed paths. Neither Dave nor I saw it actually happen...all we heard was a very loud THUD and nothing more. I ran from the sink to see what happened and found Charlie lying on the tile floor on his back...his legs and arms motionless and his eyes and mouth wide open like he was trying to scream, but had to get his breath first. I immediately held my arm over his body to keep him still, not sure of what kind of injuries I would find. I waited for the scream to come out, but instead, his eyes rolled back in his head, his face got pale white and he was out. I screamed for Dave (who was coming through the door...hearing the THUD himself). He ran and picked up Charlie's limp body in his arms and told me to call 911 and that Charlie wasn't breathing. I followed instructions, starting rambling on to the operator about the whole ordeal until she yelled, "MAM...I need your address first!" I followed instructions again, rambling out our very long street address, spelling it 3 times and the next thing I heard was Charlie screaming and crying...THANK GOD!!!

After I hung up the phone, I held Charlie on me and waited with Dave in the driveway for the rescue vehicles to arrive. Charlie, who LOVES firetrucks, especially with sirens and lights, didn't move to look at them...just laid his head on my shoulder. He softly whispered, "truck." The 5 or so large men surrounded us, asking questions, taking his vital signs and feeling for a bump on his head. The only problem was that we couldn't find a bump at all. The rescue crew told us that his vitals were good, but that we would need to wake him every hour or so to check him through the night.

We went back inside as the firetruck and ambulance played their lights and sirens for Charlie. Of course, I immediately called my sister, a Pediatric Nurse at Shands in Gainesville, and mother of a boy who constantly hit his head when he was little. She confirmed my feelings...Charlie needed to be thoroughly examined and have a cat-scan done to make sure he didn't have a serious head injury. We were concerned that the bump didn't come out.

We headed off to Wolfson's ER downtown in our van. After 8 hours in the ER, a lot of crying and screaming, an IV, sedation for Charlie and a cat-scan....Charlie was pronounced HEALTHY and we crawled into bed (yes, Charlie in between us) around 4:30am.

I can honestly say that we have never been so scared in our entire lives! The actual thought of losing Charlie is unbearable and this incident has left its mark on us. Charlie is back to being a normal boy now...running, jumping, climbing and scaring his mommy all day long. So, I guess we've earned another survival parenting badge...we just pray that it is the only one of its kind that we will ever earn.




PS- in this cell phone era, 911 does not automatically know your home address. Should you ever need to call 911, use your home phone or remember to tell them your address first.

Happy 2nd Birthday Charlie

Oh, how the time flies...I am thrilled and saddened that our little Charlie is now 2 years old. He has become such an entertaining little soul who now loves to make you laugh, try your patience and climb everything in sight! As parents, Dave and I are trying to soak up every little bit of him at this age...he loves to wrestle with daddy, get "cozy" with mommy, chase his dog Jack, keep up with his cousins, high-five the seafood guy at Publix and fake-cry to exagerate his ouchies! He really doesn't understand that he has a little sister on the way, but knowing him, he'll have an opinion on the matter! :-)

Charlie had a blast at his party this year (much better than his 1st birthday, where I'm not even sure he smiled!) He wore a train balloon tied to his pants and you could see him bopping all over the place. Even though he got REALLY sick with strep and a double ear infection right after his party, I'm sure he wouldn't trade all the partying for anything! He thought all the presents were "CCOOLL!" and wanted to keep playing so long that he actually fell asleep in daddy's arms in the ballpit in the backyard. Oh, to have the energy of a 2-year-old and the ability to fall asleep anywhere!

He is truly a blessing to our family and are grateful we have been given the opportunity to watch his little life blossom before our eyes.

"John Fly"

Ok, so anyone who knows me well, knows that I am very attached to my youngest brother John. Growing up, my brothers, sister and I always knew he was the "favorite" in the family, not only because he was the baby, and not because he had Down Syndrome, but because he had an endearing quality and love of life that made you want to be around him. We grew up being comfortable with having a Down Syndrome brother. I would take John places and wonder why people would stare at him or even worse, I would listen to comments made while I waited for him to come out of a public bathroom and sat there enraged at the smart-allecky little punks who dared speak ill of such a sweet guy. Some years later, my husband (to-be) pointed out that kids that had not grown up around someone like John were uncomfortable because they weren't sure how to treat him. I then made it my motto that my children would grow up knowing and loving their Uncle John and never be one of those punks I had encountered so many times.

So, it is with great pride and emotions that I tell you that Charlie knows his Uncle John and really loves him. John came home to visit over Thanksgiving and Christmas break. He spent a lot of time at our house and Charlie loved having his Uncle John here. He would wake up in the morning and want to go to John's room to see him. He wanted John to play with him in the play room and watch "Choo-choo" with him. Every time he left to go visit with my parents or siblings, Charlie would cry, "I want John." And finally, when we took John to the airport and accompanied him all the way to the boarding gate, Charlie cried out "bye John" and "John fly" until his airplane took flight. As I pushed Charlie in his stroller through the airport on our way back to the parking garage, Charlie started crying "JJOHHHHNNNN," which broke this mother's heart. I fought back the tears myself and knew at that moment that my son really KNEW his Uncle John and LOVED him. Since that day, Charlie still talks about his Uncle John and says "John fly" as he puts his arms out to fly like an airplane. I know this mission of mine is not over yet, but I will continue to do my best so that my children will always hold a special place in their hearts for their Uncle John.