Madison's Diagnosis

I have been wanting to write this post for a while now, but just haven't been ready to share what Madison's diagnosis is. She has a genetic abnormality, and when we first found out about it when she was in the NICU, I was very upset about it. We didn't tell anyone except close family. I have told a few people about it since then if it has come up in conversation, and some of you may have assumed something based on all the issues she has had. I was just so afraid that she would be treated differently if everyone knew, but the truth is, she is treated differently just based on everything that has happened in the past 14 months.

She has 16q22.3-16q24.3 duplication with attachment to a derivative chromosome 7. What does this mean? We have no idea. Vanderbilt has no exact match for this mutation for anyone else in their system. (So don't try to Google it because you won't find anything that is relevant). Our geneticist made sure to make that clear to us when he first evaluated Madison.

The only things we know for sure are that this mutation caused her to only have one kidney, and she has a 50% chance of passing on this mutation to her children. I also have some suspicions that her sleep apnea, respiratory issues, and slight development delays could be attributed to this. However, we have no way of really knowing that for sure. Jake & I both had our genes tested, and ours were normal. So any future children for us shouldn't really have a chance for this mutation.

Her prognosis from the geneticist we see is really good. He doesn't expect her to have major issues that he can foresee right now. However, the scary thing for me is we just have to wait and see what may or may not happen. She has done pretty well so far considering everything she's been through, so I'm just hoping that things continue to improve for her.

If anyone has questions, feel free to ask. I just felt like it was time to not be afraid to let people know the underlying issue that we haven't really talked about much. I'm comfortable with it now & know that she really is one of a kind :)

Lots of Appointments!

This week has been really busy so far. We had 4 doctor's appointments between yesterday & today. Between the 2 days, we also have added 3 new doctors / specialists we have to go see in the next month.

Madison's pediatrician referred us to an eye doctor at Vanderbilt to get her eyes checked out. One of her eyes always runs, so I'm afraid she has a clogged tear duct that she never grew out of. We also are going to have her vision checked.

Then today she had another swallow study done. She never has had a clear chest x-ray so they are thinking she may be aspirating some. The study showed that she did aspirate some, so we are going to have a feeding evaluation next week & probably will be going to a specialist for feeding therapy after the evaluation.

She's also going for a speech evaluation towards the end of September.

Lots & lots going on :)

On a side note, she took a few steps by herself yesterday! She's getting closer and closer to walking! It cracks me up because she knows she did something too & she gets so excited! Love my sweet little princess to pieces!!

What's Been Going On

Madison did great with her surgery. The doctors were very surprised with how well she did & we ended up getting to go home after 2 nights! For about a week she would only drink milk & she lost about a pound, but she's been eating really good since then.

We have lots of doctor's appointments coming up in the next few months:

*Gastroenterologist next week - we haven't seen this doctor before, but Madison's ENT referred us because of her acid reflux

*Another appointment with Madison's new pediatrician, Dr. White in August - we changed to Dr. White because she will go to Vanderbilt if Madison is admitted. Her previous doctor did not go to the hospital. Given all of Madison's issues she has had, we felt more comfortable with someone who would go. We had our first visit with her last week, and I really liked her! She has her hands full with Madison!

*Also in August, Madison will have another swallow study to make sure she's not silently aspirating because she hasn't had a clear chest x-ray since she's been born. She will also have a follow up with pulmonology & ENT. Hopefully they will have her next sleep study set up for early October.

*Early September she has to have a hearing test done at Vanderbilt.

*Then in September / October she will be seeing her kidney doctor & geneticist again.

Lots to do!!

On a follow up to an earlier post, Madison has been doing so good with her therapist that comes to the house once a week. She finally started crawling on her hands & knees instead of "army crawling" on her stomach. She's so active now & is pulling up all the time. She loves to stand up in her play pen, crib, or on the couch and walk around. We're hoping to get her walking by the end of August because she's flower girl in a wedding, but still have some work to do on that.

She is saying four words that we can understand:  mama, dada, baba (for her cup), and bye bye. I love hearing her sweet voice!

She is doing a lot better on her eating too. She will feed herself a few things with her hands, and today she fed herself some of her lunch with a fork!

She continues to make progress all the time, and I love watching her learn how to do new things!

Focus on what could go right

As most of you know, Madison is having surgery Monday morning. This has been planned for about a month, and it has been torture waiting for it to get here. This week especially has been rough. It doesn't help that I have been watching Grey's Anatomy reruns & bawling my eyes out at something almost every episode.

This week there was an episode that came on that pretty much made me lose it. A girl went in for a routine surgery, and never woke up. Add one more thing to my worry list for Monday... I cried for about an hour & a half, and then just went in Madison's room and watched her sleep like a crazy person haha.

While I was crying my eyes out, a few things kept running through my head...
-What if her vocal chords close up again during this surgery & she has trouble breathing again?
-What if they can't do a breathing tube if it's needed & have to do a tracheostomy?
-What if she comes out of surgery fine, but then they find something in her brain MRI when we get the results back?
-What if when they do the bronchoscopy (airway evaluation), they find something in her lungs? (she has had spots show up in several chest x-rays)

I saw something that made me stop & think tonight...

"Stop being afraid of what could go wrong, and focus on what could go right."

Slap in the face...

What if the surgery goes fine & she does great in recovery?

I've been focusing so much on what could go wrong & negative outcomes instead of praying & hoping for a good outcome. Instead of hoping for the best, I've been expecting the worst. As you are praying for Madison's surgery, I would also ask that you pray that Jake & I have the right attitude about this situation. We need to stay positive & focus on the things that go right instead of what could go wrong.

Madison's "Shabby Chic" 1st Birthday

Madison had her 1st birthday party yesterday. Those that know me know that I love to plan pretty much anything. So I've been planning her party since the beginning of the year. After finishing up decorating yesterday, I felt a little silly for how much work was put into it since she won't remember it anyways, but I wanted her to have a special 1st birthday. There were a few times this year that I wasn't sure if she would make it to her first birthday. Hopefully she can look back at pictures & video and be able to appreciate it.

I guess if there was a theme for Madison's party, it was "shabby chic." Since she's not really old enough to tell me what kind of party she wants, I got a lot of inspiration from Pinterest. I made a lot of the decorations, and had so much fun doing it!

 

Dessert table



 Madison's smash cake

 

 Madison's high chair

 

 Food table

 

Gift table

 

Centerpieces

 

0-12 month picture banner

 

 

My mom helped me make some of the decorations, and without her help & Jake's mom's help I wouldn't have been able to get everything set up. I also have some amazing family members who helped me with the food. I was so happy with how everything turned out! Madison is so loved, and she is such a blessed little girl!!

 

Here are just a few other pictures from the party...

 

 





Nurses for Newborns & Tennessee Early Intervention Services

When Madison was in the NICU at Baptist, they told us about a program called Nurses for Newborns that we could use since she came home with an NG tube & had other issues. At first I wasn't 100% comfortable with the idea, but it has been a blessing.

Madison's nurse, Tina, comes once a month to check on her. She checks on how Madison has been doing, helps answer questions, gives advice, and just is a good resource that I have had over this past year.

Another thing that Tina does when she comes is go through a list of things Madison should be doing for her age. There were a couple of months where Madison was a little below where she should be (mostly in communication & gross motor skills). So Tina put in a referral to Tennessee Early Intervention Services (TEIS) to come do an evaluation.

When TEIS did their evaluation of Madison she showed a 25% delay in communication. With another medical condition she has, this qualified her for services. The amazing thing is we are not out any money for these services. Whatever insurance doesn't cover, TEIS does. This is definitely something the state of Tennessee is doing right, and I am so thankful we are able to take advantage of this additional resource.

Madison's therapist, Nicole, came this morning. Madison did great! I think that Nicole is going to be so great for Madison. She got her to eat a graham cracker by herself after only a few tries - something I haven't been able to do. It may seem like something little, but I was so excited! Even after Nicole left she picked up a cracker & started chewing on it without me trying to get her to. She also showed me different exercises / activities I can work with Madison on.

We knew from the beginning that Madison may need some extra help, so I have been open to any resources we have been able to use. I know that sometimes parents don't want to accept that their child may need some extra help, in whatever area it may be. But I would encourage anyone that has some concerns about their toddler being behind or delayed to talk to your pediatrician. They can also request TEIS evaluations, or may have other suggestions. Never be afraid to ask for help because that is what these programs are in place for.

Lots to do!

The next few weeks are going to be super busy! This week I'm finishing up getting everything together for Madison's first birthday party, we have Madison's one year pictures, and Jake & I are celebrating our 4th wedding anniversary.

Then the next week is Madison's big day! I can't believe how much time, money, and effort I have put into this party, but I am so excited!! I know she won't remember it, but I wanted it to be special for her. Something else that Jake & I are doing each year on her birthday is writing her a letter. On her 18th birthday, we'll give her all the letters we have written over the years. :)

Then on June 24th, Madison is having surgery. We still haven't found out the results from the blood work she had done a couple of weeks ago (testing for the central sleep apnea gene), but hopefully we will hear something this week. When we go bright & early on the 24th to Vanderbilt, she'll be having a brain MRI & airway evaluation first. Then as long as they don't see anything unexpected during the evaluation, they will take out her tonsils & adenoids. Last they will open up the right side of her nose where she has a really narrow nasal passage.

Her ENT told us to expect to stay in the hospital 1-2 weeks. But if she does really well after a few nights we may be able to go home. It all depends on how she's doing with her breathing & oxygen needs. They did tell us that she will more than likely have to stay in the ICU after surgery & she may have a breathing tube until they feel comfortable she will breathe ok on her own. We are praying that things will go smoothly for her. It's so scary knowing she's going to have surgery after what happened when she was put to sleep for her ear tubes. But they feel confident that she had such a hard time last time because she had RSV & we didn't know it.

Lots going on over the next couple of weeks!!