Friday, February 28, 2014

Rare disease awareness day

Are you wearing your "jeans" with pride?

Thursday, February 27, 2014

Funny thoughts

While I was pregnant with my second child I was very big and very uncomfortable. Being under 5 ft tall and carrying an almost 9lb baby, there is nowhere for baby to go but out. trying to make the best of the situation a jotted down some thoughts. Enjoy!






Wednesday, February 26, 2014

I don't think I can fix this


Well I had a really funny post I was going to put out there today but I just can't. Today was a visit to the muscle doctor. Noelie has what they call "torticollis". Basically, his muscles are tight, especially in his neck. This causes him to favor looking to the right. We have worked with him and he looks to the middle more now. He can almost look all the way to the left, if he wants to. He screams if you force him too.

We had talked about doing botox injections to help loosen his neck and get him to look to the left more. While at the doctors office we talked about it again. They saw that back in September he had an xray done to check the shunt placement, and the tech made a side note that he thought 2 vertebrate were fused together. WHAT! Why were we not told about this?

I am clearly upset by this! I was hoping that his movement was something we could fix. We have a CT scan scheduled to find out more but I don't think I can fix this. As a parent, you just want to make it better. To give your child the best life you can. There is a lot of things I have learned to deal with. This is the way it is and I can't fix it. His brain size, the fact that I am a carrier of the gene, and his low chances of walking, talking, getting out of diapers, or getting rid of his g-tube. I have learned to except most of this. We are trying to change some of those things, like him walking and getting rid of the g-tube. I realize that if it does happen it may take years. But his neck movement? What? I really thought we could fix this.

Ok so maybe this is something I will also have to except as fact. My big question is why was this not mentioned earlier? I really can't complain much about the clinic, hospital, and doctors that we have come to know and trust, but I thought someone would have seen it and mentioned it. I am nervous about the scan. I want to fix this, but I (in my heart) don't thing I can. Tonight I have a heavy heart knowing that, as a mom, I can't make it better. I have peace when I look at his smile. It is almost as if he is saying "I am good mom. I am ok. You are doing great. I love you." I love his smile!


Tuesday, February 25, 2014

Rare Disease Day

I was surfing the web and blogs and I came across this web site. www.GlobalGenes.org is an organization that is dedicated to bringing awareness (and research money) to over 7000 rare genetic diseases! I have added our story to the hundreds that are already on there. Click on the link above to go to their web site and check it out. Our little man is so rare that x linked hydrocephalus was not even in their database! I added it in hopes that someone else has heard of it and would like to connect with me. Please share this post, picture, or Global Genes web site to spread awareness and WEAR YOUR JEANS on FEB 28th! Our guy has been through so much and has proven the doctors wrong. He has made big strides and will continue to improve every day. Lets help them out by supporting their cause!

A little reminder



For God... the greatest Lover
so loved... the greatest degree
the world... the greatest company
that He gave... the greatest act
His only begotten Son... the greatest gift
that whoever... the greatest opportunity
believes... the greatest simplicity
in Him... the greatest attraction
should not perish... the greatest promise
but... the greatest difference
have... the greatest certainty
everlasting life... the greatest possession

Monday, February 24, 2014

One more back story

Now that I have updated you about my family history, Noelie, and my cancer, there is one more thing...sometime in January 2013 we got pregnant again! For thinking we would never get pregnant at all, now we have two! Of course this was not planned, and we were just getting to a good place with Noelie and were not sure we wanted to do this all over again. Through blood work, I found out at 10 weeks, that it was another boy and did not have downs syndrome or T-13 or 14. Great, another boy. Was he affected? Were we going to have to endure all that worry and pain all over again?

The first ultrasound was "normal". WHAT!!! We don't even know what that means anymore. All the following ultrasounds were "normal" too. Thank God! But wait...what does a normal baby do? Honestly I was almost more scared for normal. 2am feedings, crying, wiggling, rolling...crap. I didn't know how to parent "normal". With Noelie I had LOTS of doctors and nurses to help me. We had a social worker and nurse assigned to us to help navigate appointments and the special needs system, to help us remember and interpret things. We weren't going to have any of that this time. We were on our own, just us. Oh crap.

Well our second baby boy, Samuel (Sam), went full term and was 8 days late. He was a healthy 8lbs +, hungry, and very wiggly. He is now just over 2 months old. Noelie is now 19 months and I think we are finally getting the hang of this.We have good days and bad. They keep me on my toes. Most days I am lacking sleep. I rarely get to catch up with friends because the boys are usually eating, sleeping, crying, or doing therapy. It has also been an unusually cold winter so most days we are hunkered down trying to avoid the cold and getting sick.




We can't wait for spring and warmer weather. That is a bit about our back story and how we got to were we are now. I hope you have enjoyed it so far and follow along to keep up with our crazy life.

Friday, February 21, 2014

July 2012-January 2013- Our story, updated

After Noelie was born he spent almost 2 months in the NICU. It was so hard to leave my baby there everyday and just come to visit. All you have to look at is the monitors, your baby, and the staff. There is only so much you can do with your baby that is hooked up to all kinds of machines. We couldn't even hold him till he was a couple weeks old. All we could do was put our hand though the hole in the "incubator" and hold his hand.

He needed a feeding tube in his nose, IV's in his head or belly button, and some of the time he needed a tube down his throat or in his nose for oxygen. He was 5 days old when he had surgery to put a shunt in his head. This helps keep the fluid in his head regulated and draining.

I spent 2 nights in a room near the NICU, with Noelie, before bringing him home. The staff does this for a lot of parents to make sure they feel confident to take baby home. If you need help they are just a push of a button away. I made it through those 2 nights and we were ready to go home!




We were so happy! We were going to be a "normal" family. I knew it was going to be hard but nothing could prepare me for how it really was. Noelie never learned to suck and swallow, so he come with a feeding tube in his nose. I had to take it out and switch sides every 3 days. He had issues with keeping food down. He would eat over an hour. I would have to stay awake during that time and for about an hour afterward, in case he threw up. He was at high risk for food getting into his lungs so I had to suction him out if he did throw up. I would get an hour of rest then have to start feeding him again. This was 24/7. It was hell. I got very little sleep and became very irritable. I hated my baby.

2 weeks at home he ended up get aspirated phenomena and was hospitalized. We decided to do a surgery to twist his stomach (so he can't throw up) and put a tube going right into his stomach. This eliminated the tube in his nose and having to suction him out as much. This was the best thing we could have ever done. I could get more sleep and fell in love with him again.

Every month after that (till the end of January) he was in the hospital for something. He would still get aspirated phenomena. He also had kidney stones that needed to be removed and were too big to pass on his own. He got a viral infection. He was always there. Coming from the NICU, and not being able to stay with him, we were used to leaving him and just visiting. We became very familiar with the staff too. Actually, I miss them now.

The end of January was his last un-planned hospital stay. He had to wear a helmet for a couple months to correct a flat spot, but doesn't have to wear it now. He has been through a lot and is doing as well as he can be. We have gotten him to a good place with his health. He is growing well. We have gotten used to his feeding tube. He only eats twice during the day but is hooked up all night. He is off oxygen during the day. He had a sleep study done and is on a bi-pap machine at night with oxygen running through it. There is a lot of time, during the day, when he is not hooked up to any tubes. Just like a "normal" child!



Now that I have pretty much caught you up on our story, I want to focus on what it is like raising our special boy. I hope to shed light on this rare genetic disorder. I hope to give others with special children a reason to keep going. To offer advice to get through the day. To encourage them. To share in the little steps that are a really big deal.   

Please feel free to share my blog with someone you may know, or follow it for yourself. I can't wait to hear from you and get to know more people that are raising amazing, special children!
     

Thursday, February 20, 2014

Noelie loves sledding 2-18-2014



We have been feeling a bit of cabin fever this winter. We finally had some days that were above freezing (yes 32* feels great) and decided to take advantage of it. We got a sled from Grandpa Felix that he modified years ago with higher sides. It works great for Noelie! He was laughing the whole time, as long as you are going fast or making circles. He seemed board with just going straight. A lot of the things we do with him he just seems to tolerate. Making snow angles is one of them. He didn't cry or laugh, just looked at us like "what are you doing now?" We want him to have as normal a childhood as possible and thought it was a good idea, despite his look of confusion. 

Wednesday, February 19, 2014

Cancer

After learning I had cancer we came up with a plan. Because I was pregnant we couldn't do anything till baby Noel was born. Good thing I didn't have to wait long. 1 week to be exact. On the 9 year anniversary of one Grandma's death. Baby Noel (Noelie) was born on July 26th, 2012. I had surgery to completely remove my thyroid but had to wait till my milk ducts were completely dry before I could get the rest of the treatment. 

The week of deer gun season, I took two blue pills. This was the rest of the treatment. Radio-active iodine. This made me so sick, I really looked like death. I was very gray for a whole week. This killed off any cells that may have been left after surgery. The next week I went in for a scan to make sure the cancer was gone. After treatment I went on thyroid medication. Today I am cancer free!

Noelie really is my miracle. I never thought I would get pregnant. If it weren't for my miserably, stuffy nose, while being pregnant, I wouldn't have insisted that it wasn't allergies. I wouldn't have gone in and found the cancer. If I wouldn't have had 2 biopsies on my thyroid, causing high blood pressure, I wouldn't have needed to be observed overnight in the hospital. The doctors would never known that Noelie's heart rate dropped and that he was in trouble. Needless to say, our lives revolve around prayers. Everything happens for a reason. And we are always exactly where we are supposed to be.  




Our world gets turned upside down, again





I had a stuffy nose the whole time. The doctors kept telling me it was allergies. Turns out it wasn't. 

  My journal entry from June 20th:
Everything happens for a reason. For it has been granted to you that for the sake of Christ you should not only believe in him but also suffer for his sake...Philippians 1:29 I don't know why things are happening the way they are, and I am trying to stay positive, but after this week it is hard. I am so lucky to have a Great husband that is right next to me every step of the way. He says we are a team and can get through anything. I feel so blessed to have so many people supporting us too. thank you


I don't want to focus on the negative but I know some of you would like an update of how this last week went for us, so here it goes.
Monday= Ultrasound revealed that baby's fluid increased from 2.5 and 2.7cm to 4.0 and 4.1cm. his head is the size it should be at 40 weeks. he is only 32 weeks. We toured the NICU. We also had my thyroid ultrasound and blood work read. They told us they wanted to do a biopsy. It got set up for Thursday.

Wednesday= After review of the ultrasound Doctors wanted to move the c-section to the week earlier. Arrival date is now Aug. 13th, first thing in the morning. This means that both OB Dr.s and both priests will be able to be there. :) The original Neurosurgeon will not be, but the one that will be there is very good too.
Thursday= we were supposed to meet with the neurosurgeon but that appointment was cancelled. Just had to do the thyroid biopsy. That really hurt. I didn't faint. afterward it felt like someone punched me in the throat. We also celebrated our 9 year anniversary by going out to eat.
Friday= We had a regular OB appt to check baby's heart beat in measure my belly. Everything sounds good and belly size is right on track. We talked to the clinic social worker again to come up with a birth plan and talk about some other things. While we were there I got a call with the results of the biopsy. They took 5 samples. 4 came back with not enough cells for a good reading. 1 came back as cancer. They want me to come back in for another biopsy.

Saturday= Have to go to the bank to verify some transactions. My debit card got hacked into.
Next week= Jury duty for me
The next doctor appointments that I have coming up are; having another biopsy done, then meeting with my reg. OB doctor on the 8th for one last check up. I am very excited to not have to go to the clinic for awhile.

Well there it is. This is my life. I feel very drained from the week and am trying to just keep moving forward. Father Brice called and ask if we would like to be put in the prayer intercessions at church and also included, in prayer, with the 2 other baptisms that are happening Aug 12th. Of course we said yes!

July 23rd the results from the second biopsy came back. I was 34 weeks pregnant and found out that I had Thyroid cancer! 


X-linked Hydrocephalus, an explination




It's also known as L1 Syndrome. Anybody can get hydrocephalus. This just means “fluid on the brain”. You or I can just wake up with this. Commonly people will get this if they have been in a car accident or had a traumatic brain injury. Ours is linked to the chromosomes. Without sounding too much like a doctor here, basically it is something that boys are affected by and are born with. It will never go away or get better. There is a 50/50 chance that girls in our family are a carrier of this disorder and a 50/50 chance that boys are affected by it. To take you back a bit into my family history with this, My Grandma had 2 sons and 2 daughters. One son passed away from this disorder shortly after birth, and the other is still here. He is as normal as they come. Out of the 2 girls, one went on to have 2 girls and 2 boys of her own without any problems. My mom on the other hand was not so lucky. My mom had 2 boys and 1 girl. The girl is me and I am doing fine. The boys on the other hand…one passed away after 9 months and the other is doing well and is a pain, just like a brother should be.
 


 My journal entry
March 28th- My mom had her genetic test come back and, as we already knew, she is a carrier. On the 20th I had my blood drawn and sent to the lab to see if I am a carrier too. They called today with the news that I am a carrier too. We could do amniocentesis, but that scares the crap out of me. There is a 1 in 500 chance that baby could miscarry. My luck I would be that one. I’m not willing to take that risk. We will just monitor brain activity though ultrasound. And pray, a lot. Besides that this is going as well as expected. I have had cramping the whole time and my nose has been driving me crazy. It’s plugged and itchy. I have started to feel pressure in my uterus but no feelings of butterflies yet. I’m told that is what to wait for, that is baby moving. I haven’t gained any weight yet. My memory is starting to go. For the last 2 days I have been sick with “allergies” there is nothing that the doctors can really give me anyway so I suffer through. I think today is my brake through day. Coughing up a lot of phlegm but once it’s out them hopefully I will be done with it.

We found out on the first ultrasound that our boy was probably affected. All the ultrasounds after that just confirmed it. Our lives were going to be difficult from here on out. Everyday was hard. Knowing all that we would have to deal with. Knowing our son would never be "normal". We prepared as much as we could. We toured the NICU at the local hospital. We formed a team of doctors that would be at the c-section. We planned a c-section for 3 weeks earlier than the due date.

I went in for an appointment 5 weeks before the due date. I had high blood pressure and they wanted to monitor me overnight. My pressure got better but baby Noel's heart rate dropped, indicating he was in trouble. He was coming out now! No one from our team was able to be there, but we proceeded anyway. He came very fast. They whisked him away to baptize him and check all his vitals. I went to recovery and baby Noel went to the NICU.
                                                           Baby Noel IV getting baptized
                                                          MRI taken 2 days after birth
  The dark area is all fluid. His brain is being pushed against his skull, causing his head to be abnormally large.

The day that changed our world

It was early January 2012. 3am. 
We had been trying to get pregnant for 8 years. We tried fertility treatments. They didn't work so we decided to adopt. We had gone through classes, background checks, and completed the home-study. We had to make a few improvements to our house, take pictures, and send them to our social worker. Then we would be all set for our info to start being shown to birth mothers. We were so excited!

Then I took one more at-home pregnancy test. At 3am. I waited, thinking it would be negative, just like all the other ones. It wasn't! We were finally pregnant! I ran up stairs and woke up my husband. He was so confused and so sleepy that it took him a while to understand what was going on and what I was waving in front of his face. He finally got it though. We hugged and he went back to sleep! What! How could anyone sleep at a time like this? My adrenaline and heart were going so fast I thought I could run a marathon.


On March 20th (the first day of spring) we found out that we were having a little baby boy. We are due September 2. We were so excited to find out what we were having but it came with a lot of worry too. We called the social worker for our adoption and told her what was going on. She told us that they would put our file on hold for as long as we needed and to just keep her updated. You see, there is a rare genetic disorder that runs on my side of the family. It is called X-linked hydrocephalus.  



Lord Jesus,
This life you have given us
is so tiny, fragile and vulnerable,
... safe in the womb of flesh and hope,
yet subject to danger and death.
O God of love, creator of Life.
Hear our prayer.
We want this baby so much.
Please grant this child of ours
a full term of nurture
the joy and mystery of life
and the blessings of your love.
Grant us the fullfillment of our dream,
a baby to cherish and protect,
a child to teach and guide.
and a blessing to our family. Amen.