Aiden's Genetic Testing Results

Monday, September 29, 2014

We received Aiden's genetic testing results today and it was very good news.... He does NOT have TSC!! This is a huge relief!! God is good y'all! 

Aiden's Birth Story

Wednesday, August 27, 2014

I woke up suddenly around 12:30-1:00 AM Monday morning to my water breaking. My doctor told/warned me that I would definitely know if my water broke since I had a high amount of fluid, and she wasn't kidding.. There was a ton of fluid so I knew for sure that I didn't just pee my pants. (Sorry for TMI but come on, this is a birth story. Labor and delivery are full of icky stuff.) 

When we arrived at the hospital we had to go in through the emergency room since it was late. The ER was empty except for a security guard sitting by the entrance. He asked what we needed help with, and I swear his eyes almost popped out of his head when we said we needed L&D. He pointed us in the direction we needed to go and gave me a wheelchair. As Jeremy wheeled me down the long hall to the elevator we laughed at how it didn't seem real yet because at that point I didn't feel like I was in labor. I was feeling a little crampy but it wasn't too painful. 

Headed to L&D.. but first.. let's take a selfie!

I was taken straight to triage so the nurses could make sure my water did actually break. I was 2 cm when they checked me. I started to get more uncomfortable while we waited for the nurses to get in touch with the on-call doctor to let him know I was a primary c-section. I was nervous about having a c-section but on the other hand I was thankful I wouldn't have to deal with painful contractions for who knows how many hours.

Around 3 AM we were moved to a room. The contractions were very uncomfortable at this point and I felt nauseous and shaky. The doctor arrived a 6 AM and I was brought back to the OR. When I was moved to the OR table I started to cry. I felt overwhelmed with different emotions; I was scared and anxious but excited to finally meet our second little boy. All the nurses were sweet and kept talking to me the entire time to help with my anxiety. Once I was numb I started to have a full on panic attack though. The feeling of wanting/needing to move my feet but not being able to totally freaked me out. A nurse tried to help me relax by making me close my eyes and imagine being on a beach.. but.. yeah.. that didn't help. All I could do was cry and beg them to let Jeremy in. They usually don't let husbands in until a certain point but they let Jeremy in early to help me relax. Jer came in and held my hand while I kept telling him "I'm so scared." He stayed calm (as usual) and kept telling me everything was going to be ok. I think I almost broke his hand because I was squeezing it so hard. 

Before we knew it the doctor was holding our new, 10 lbs .4 oz, precious baby boy up over the curtain so we could see him! Everyone in the OR was surprised by how big he was. They kept saying he looked like a one month old! Ha!

proud daddy holding Aiden for the first time
Seeing Aiden helped me relax for a while. Unfortunately the panic set in again while the doctor was closing everything up. I was given a medicine to help me relax (they couldn't give me anything until baby was born because they didn't want the meds to affect him) and it made me fall asleep for a few mins. Soon after I woke up we were taken back to my room to recover. 

My mother-in-law brought Joel to see us and meet Aiden a few hours later. Joel was excited but he didn't want to get too close or hold baby brother.. We expected that so we didn't push it. He slowly started to warm up to him though and would sit next to us while we held Aiden. He would throw in a random "aww, so sweet" or "I love him" when he would look at Aiden. It melted my heart!


A Sweet Surprise!

Saturday, August 16, 2014

Aiden Thomas
born 6:32 AM on Monday, August 11, 2014
10 lbs 0.4 oz, 21 3/4" 

I was scheduled to have a csection on Thursday, August 14 but someone decided to surprise us and arrive early. He is healthy and we are both doing well. Big Brother (Joel) is over the moon excited and seems to be adjusting well. Our hearts are full of joy and we feel blessed beyond measure! I will post more about Aiden's birth story later.. after I have a nap.. or two..

38 Week Pregnancy Update

Friday, August 8, 2014

The end of this pregnancy has been rough on me. I have struggled with guilt during this last trimester because most of our days have been spent hanging out around the house and watching too many cartoons. If I'm up walking or standing for too long I get super achy fast and feel like my stomach muscles are being ripped apart because my belly is so heavy, though. I have to keep reminding myself that this won't last forever and soon I will be back in Super Mom mode.

I had an ultrasound yesterday afternoon to check baby's weight because he has been consistently measuring two weeks ahead at every appointment... and according to the ultrasound Aiden weighs 10lbs 5oz!! (This explains why I have been in so much pain!) Since I had a such difficult L&D with Joel (and he was only 8lbs 2oz!) and because of a few other concerns, my doctor has scheduled me for a c-section. I have never had surgery so I'm a little nervous about it. If I'm being totally honest though, I'm more nervous/worried about how Joel is going to handle everything. It makes me cry just thinking about it!

Please keep us in your prayers -- that everything will go smoothly next week with the csection and recovery, and that we (especially our sweet Joel) will all adjust quickly to having a newborn in the house.

38 weeks 3 days pregnant
sorry not the best photo
it was taken during big brother's bath time :-)


Saturday, August 2, 2014

I was beyond nervous about Joel having to take a summer break from preschool. In the past we have seen regression in his development during long breaks from therapies. Thankfully we have seen the opposite during this break! Our little guy has been making SO much progress! The most exciting thing.. he is talking in sentences now!! 

Oh, and yesterday we attended his LAST speech therapy session! It's a huge accomplishment for our sweet boy!! We are praying he will continue to progress.

Ending speech is beyond exciting and it also takes a little weight off my shoulders... We recently started feeding therapy once a week and it's almost an hour away. I was stressing about how I was going to juggle speech and feeding therapy around the preschool schedule, all while trying to adjust to having a newborn.

Progress with feeding therapy has been slow but we are praying it will help us figure out whether Joel's lack of eating is from his medicine or not. As of right now we are leaning towards switching his meds sooner rather than later (due to the lack of eating and because we are worried he might be having seizures at night while sleeping)... Please keep praying about this issue for us. We need wisdom to know what we should do.

31 Weeks Pregnancy Update

Monday, June 16, 2014

I had my third ultrasound with the high risk OB. Baby Aiden is still looking healthy and showing no signs of having Tuberous Sclerosis Complex. It was awesome to hear the OB say "baby boy's heart and brain look great, praise God!" He still recommends we continue to with our plan to have genetic testing for Aiden shortly after birth though. Unfortunately, as I have mentioned before, we have to face the reality that the ultrasound could miss something... BUT.. we are praying that Aiden will be TSC-free, and the genetic testing will only give us peace of mind early on.

At my last appointment with my regular OB I was measuring two weeks early. The ultrasound showed that Aiden weighs 04lbs 11oz (which is big for 30 weeks) and looks as though he will be tall just like his daddy and big brother. I am set up to have another ultrasound in seven weeks to check his weight again. Joel was 8lbs 2oz and I had a difficult time delivering him (I was able to do it with assistance but I ended up with tearing and needing stitches) {you can read about his birth story here} so my OB wants to monitor Aiden's weight to make sure he doesn't get too big.

I am thankful this pregnancy has been going so well. The hardest part has been finding time to rest. Resting is not easy when you have a 3 year old. When I try to sit or lay down I usually have to jump right back up because of Joel. By the end of the day I have to crawl into bed because I am so sore. Now that I'm getting closer to the end of pregnancy I'm starting to feel nervous.. not really about labor, but mostly about how I will manage taking care of a newborn and a 3 year old. If you have any tips on how to make it an easy adjustment or how to take care of two without losing all my hair.. please share!!

To Infinity & Beyond!

Tuesday, June 3, 2014

Joel is a huge Buzz Lightyear fan. Lately, for the past two or three weeks, he asks daily to wear his Buzz [Halloween] costume. If the costume is dirty and/or he isn't able to wear it, a huge meltdown will occur. When he takes the costume off he always says "Joel back!" It cracks me up every time he says it!

It's fun to watch as he is finally starting to use his imagination and trying to be more verbal while playing. When he catches us watching or if we join in, especially when the play involves being Buzz, his whole face lights up.

The other night while watching one of the T0y Story movies (for the millionth time), he started lifting up his foot and saying "Andy." It took me a minute to figure it out, but he was telling me that his foot had the name Andy written on it just like Buzz in the movie.

Anytime he sees a commercial for Di$ney he says "go there!!" and then he starts to talk about seeing Buzz. Hopefully we can take him one day so he can meet his favorite character.  :-)

How Having A Child With TSC Has Changed Me

Thursday, May 15, 2014

Today is Tuberous Sclerosis Complex Global Awareness Day.

All week I have been trying to think of what I want people to know on this day. Obviously I want people to know what TSC is (if you don't know, click here).. but I also want people to know how having a child with TSC has changed me..

Having a child with TSC has made me a more compassionate person. Sadly, I use to be quick to judge others. Then my child was diagnosed with TSC and my eyes were opened to a whole new world. A world filled with strong individuals that may not look "sick" on the outside but inside are fighting off something that they cannot always control. These days when I see a child having a meltdown in public I no longer think "man, what a brat those parents are raising!" I now realize the child may have sensory issues like Joel, and being in stores or large crowds may be overwhelming for that child. He/she may not know how to focus or process everything. It can cause what looks like a tantrum or (usually in our case) it can cause the child to be very hyperactive.

Having a child with TSC has taught me to celebrate every day. We know tomorrow is not promised for us, but the reality of that never hit until my child was diagnosed with epilepsy and TSC. Every day I am reminded to celebrate every breath, every step, and every word spoken because in an instant TSC and/or his epilepsy could steal it away us.

Having a child with TSC has made me want to change the world. Before having Joel I never really paid attention to politics or medical challenges that families face. These days I know more than I want to. Meeting political leaders that would rather fund bike paths for our state than help fund medical research that could save many lives (true story)... and meeting families that are having to celebrate their child's birthday in a hospital, unsure of when they will be able to leave... those things break my heart but also encourages me to continue being an advocate for Joel and others. I may be a stay at home mom but I still have a voice and I refuse to be silent! I would have never said that before I had a child with TSC.

Genetic Testing Round 2

Wednesday, May 7, 2014

I met with a genetic counselor to discuss genetic testing for our second son, Aiden, that is due in August. {Click here to read about Joel's genetic testing results.} Going into the appointment I wasn't sure I would learn anything I didn't already know, and I was right.. but something good did come from it. The genetic counselor, Dr. S, suggested we do testing on Aiden just a few weeks after he is born. I agreed because it would be nice to either have peace of mind early on and know that Aiden does not have TSC or know early on that we need to see a specialist as soon as possible. The giant we have to face in the meantime is our insurance company. Dr. S will have to submit a letter to the insurance company (probably after Aiden is born) that states the medical need for the testing, which at this point is just family history unless Aiden shows signs at my 30 week ultrasound or after birth... The insurance company will then review the letter and either chose to approve or deny the testing. We really need them to approve it because if not it will be very expensive. Please continue to keep us in your prayers, and keep your fingers crossed that the insurance company will approve the testing after Aiden is born!

Easter 2014

Monday, April 21, 2014

On Saturday, the day before Easter, we took Joel to an egg hunt. We arrived just as the announcer was starting the count down for the kids to run. There were a ton of people so Jeremy had to pick Joel up and try to run past the crowd. The huge crowd seemed to be a overwhelming for Joel but he had the biggest smile on his face when he was showing me all the eggs he found after the hunt.

Saturday night we let Joel dye Easter eggs for the first time ever. I had a mom fail; I forgot to buy vinegar so the only colors that came out were the pink and blue. Thankfully Joel didn't mind too much.. He still thought it was fun!

Joel was a little spoiled this Easter. On top of the goodies he got from the Easter Bunny, he also received stuff in the mail from Grammie (my mom), Great Aunt Cheryl, + Pawpaw & Granny (my dad and stepmom). Grandma (Jer's mom) also had a basket for him and Crystal (Jer's cousin's girlfriend) gave him a bucket full of goodies. He was very excited about each gift, and now he wants to it be Easter every day. He wakes up every morning and asks me if it's Easter still. It's cute.

{Easter morning}
{Egg hunt at Grandma's house}

I'm thankful he has so many people that love him and gave him fun goodies.. but at the end of the day I want him to know the real reason we celebrated Easter. The resurrection of Jesus Christ. It's not easy to explain it to a 3 year old but I still try. Joel LOVES for us to read books to him so the Easter Bunny put a book called "Let's Celebrate Jesus on Easter" in his basket. I already talk about Jesus every day to him and I always pray out loud (throughout the day and before bedtime) so Joel can hear. Sometimes I pray out loud and don't realize he is actually listening until I'm done praying and I hear a sweet voice say "AMEN!"  :-)

Spring Weather

Tuesday, April 15, 2014

We had a wonderful weekend. We were finally able to go outside and not freeze our butts off! We had perfect weather with temps in the 70s. It was great! We took advantage of it by playing outside all day long and doing yardwork. Well, actually.. Jeremy did the yard work... me and Joel just played.  :-)

Our warm weather fun unfortunately did not last long though. We woke up this morning and it was snowing. Yes, seriously. Needless to say.. we are bummed!

Baby #2 Update

Thursday, April 10, 2014

I had my second ultrasound with the high risk doctor today. Baby #2 looks very healthy (he weighs 1 pound already) and still has no signs of TSC that the doctor can see. The doctor did tell me, though, that we have to realize they can't tell for sure until after the baby is born. Sometimes the ultrasounds can miss something or it won't develop until later on. I have moments where I worry about it but for the most part I'm choosing joy. I'm thankful for this second miracle God has blessed us with! We are going to keep praying that he will continue to grow and stay healthy.

Oh! The ultrasound tech surprised me and gave me a clear look at our sweet boy's face. We think he looks like his big brother.  :-)

arm and hand


Monday, March 31, 2014

On Joel's 3rd birthday (February 3rd) he started attending the county preschool for 3-4 year olds. I was thrilled that we were FINALLY able to get him into a program, and even more thrilled that we could FINALLY start focusing on his progress instead of all the areas of delays. (It feels like a punch in the gut when you have to sit through meeting after meeting and listen to a stranger explain test results that show your child is delayed. I just wanted to scream at them and say "YES I KNOW, NOW JUST HELP HIM!")

The first two days were rough. Joel had a difficult time when I had to drop him off and I had a difficult time leaving him knowing he was upset. Thankfully he adjusted quickly to the new routine and he is doing AWESOME. He has been communicating with us more than ever and it also seems to be helping sensory wise. It's exciting to see how he is growing, and even more exciting to see the smile on his face when he realizes that he learned something new.. like counting, for instance. One day he came home from preschool and counted to 6 all by himself. A few days later he was trying to count to 18!! He now walks around the house counting everything. :-)

I have to admit though, I felt a little bit of mom guilt when he started to progress. I felt like I [obviously] wasn't doing a good enough job at home or else he would already know these things. Right? Wrong. Joel has issues focusing. He still has issues with it at school. So regardless of what I could try at home, it really wouldn't have mattered. He needed the structure of the classroom setting. Being around the other kids definitely helps too.

Summer is approaching quickly and I'm nervous he will lose everything he has learned so far. I'm trying to find programs and activities that will hopefully help during the break from school. One fun thing we will be trying is teeball for 3-4 year olds. I'm not sure he will really learn anything from it but I know he will have fun meeting new friends and running around.  :-)

Second Guessing EVERYTHING

Saturday, March 29, 2014

We have always had issues with Joel not eating but most doctors just take a note of it and move on even though they tell us his medication is known for causing lack of appetite. Since Joel wasn't having seizures they didn't want to rock the boat by switching meds. On one hand I get their reasoning but then again, my child never eats and I'm concerned about his health & weight. It's not fun to go to bed at night worried that your child is hungry because he wouldn't eat anything (once again) all day. Not even snacks.

When we met with the TS neurologist in Cincinnati he agreed that something needed to be done to help. I'm in the process of trying to get Joel into a feeding therapy which he agreed was a good idea, but he also suggested changing meds.  Unfortunately there are no tests that can be done to figure out if the lack of appetite is from the current seizure med or just Joel being super picky so all we can do is switch to something else and see if he starts to eat. 

He also mentioned they don't normally give his current medication to TS patients, especially children, because it can stunt developmental growth and is known for causing appetite loss and break-through seizures like Joel was having around the holidays. (No one ever told us that it could harm Joel's development. Isn't that nice?) 

The med he suggested we try is called  Sabril. It's a medication that has great success in TS kids. The only issue is that it can cause vision damage which is a big concern for me. I know every seizure medication will come with a risk of a scary side effect but how do we know which one is worth the risk? If we decided to try Sabril and Joel ends up with vision damage I would never forgive myself. The whole drive home I went back and forth on whether we should try it or not. I decided to call the clinic the next day and ask for different treatment options. I know Sabril is a very aggressive drug but I don't feel like Joel really needs that at the moment. If he was having seizures multiple times a day I wouldn't hesitate to try it, but he's not. The neurologist even said Joel is doing very well for a TS patient.. So there has to be something else we can try first, right?

The hardest part of parenting Joel is that I'm ALWAYS second guessing EVERYTHING when it comes to his medical. Some days it's just too much for me to deal with and I end up crying my eyes out while Jeremy holds me and tells me everything will be ok. Every parent wants the best for their child.. but imagine if the best for your child comes with scary risks.. That's what I'm dealing with and it's not easy nor fun. I just want to him to have a healthy and happy life. I pray every day that God will give me wisdom and guidance because.. honestly... I have no idea what I'm doing. 

A New Neurologist

Friday, March 28, 2014

The great thing about living in Ohio is that we have access to the best TS doctors in the country. People from all over the country (and world) travel to Cincinnati just so their child with TS can be seen by one of the doctor's at the clinic. Cincinnati is 3 1/2 hours south of us so we decided when we first moved to Ohio that we would use that as a back-up plan if things with our Cleveland neurologist didn't work out. 

Our Cleveland neurologist has been very nice, but we just haven't felt like we were getting the care we needed. For instance, around the holidays we started to see what we thought were break through seizures (Joel would make a face like he had a nasty taste in his mouth, put his hand to his mouth and rub it, and then whine and want to lay down.) and I called several times but I would always get the same response from a nurse--that the doctor just wanted me to keep a seizure diary and he would see us in X amount of months. I also called several times regarding Joel's lack of appetite but again, I would only get calls back from a nurse and she would tell me to just keep monitoring Joel. {One time she actually asked me if I have tried giving Joel finger foods. I flat out asked her, "do you think I would be calling you if I haven't tried to feed him everything under the friggen sun?"} That wasn't ok to me. I felt like he was going to wait for my child to be skin and bones and/or have a seizure that sends us to the ER before he did something about it. So one night I told Jeremy I was done with Cleveland and I was calling the next morning to schedule an appointment with Cincinnati. That was most definitely the best decision I have ever made. 

We met with a TS neurologist in Cincinnati on Wednesday. He listened to every concern and answered every single question we had. We left the appointment thinking I wish we would've come here to begin with!

So for now on we will be contacting Cinci for all things TS. We will keep our Cleveland neurologist for emergencies only. 

March The Hill 2014

Saturday, March 22, 2014

At the beginning of March I once again had the amazing opportunity to attend March The Hill with the TS Alliance in Washington, DC. I went last year and represented the entire Pacific Northwest. (You can read about it here.) This year I represented Ohio and Kentucky with a few other people.

Traveling while pregnant made me nervous but everything went smoothly and I had a great time. It was fun to see friends from last year--friends that I usually only get to communicate with via FB--and exciting to make new friends this year. I hate that Tuberous Sclerosis is the reason we met but I'm thankful to have these people in my life. It gives me a sense of peace in knowing that even if something happened to me and I was no longer able to advocate for Joel, there are still so many amazing people that are willing to be his voice and fight for his cure.

Whenever I come home from these trips I always feel empowered and honored to be able to advocate for Joel and others fighting TSC. There are not enough thank you's in the world that I could give to the TS Alliance for allowing me to attend March The Hill with them.

a few members of the TS Alliance of Ohio with Senator Sherrod Brown 

It's A...

Thursday, March 20, 2014

It's a BOY!!! 

Today we had the anatomy scan for Baby Nelson #2 and afterwards we had a consult with a high risk doctor. My regular OB referred me to the high risk doctor so we can have a little bit of peace of mind regarding the health of this baby. So far everything looks great and the baby is healthy. The high risk doctor wants to do another ultrasound in four weeks and then again in my third trimester just to be safe, though. 

Jeremy and I had genetic testing after we received Joel's results and neither of us have the TSC1 mutation that Joel has.. which is good news.. but since we already had one child with the random mutation, the doctors can't tell us our chances of having another child with TSC is zero. We are still at a low risk. So please continue to pray for baby boy #2. 

Thursday, January 9, 2014

Please excuse the mess.. I'm in the process of moving all my blog posts to this new site. Can't wait to start blogging again!
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