Hannah’s World

Just as we thought life was calming down, Hannah caught a cold, which lead to a double ear infection. Ear infections and cochlear implants are super dangerous. The implant could get infected and need to come out. So, after a long ER visit, she’s being admitted for IV antibiotics to hopefully knock out the infection before it gets to her implant. Hoping for a speedy stay 🤞🏻

Long time no talk 💖 we have been so busy over here, enjoying summer! But here’s an update from Hannah’s appointment today with the genetics specialist.

After a very long wait, we found out neither Jon or I are carriers of the gene mutation causing TBS. This means there’s no worry Mason or Tommy have it either. It was just a fluke in Hannah’s genes. The only downside is if Hannah were to have children, there’s a 50% chance she’d pass it down.

The way the geneticist explained it is, there’s a sequence of letters that make up our genes. CGAT. They can be in any order but at the end of the sequence they always land on TAG. Which tells the body to stop developing. Normally, this happens when they are fully developed, in Hannah’s case, her gene mutation caused the sequence TAG to early on, stoping her development in my belly before she was fully developed. This is what caused her abnormalities. Genes are super confusing and in depth but it was nice to get more detail about what happened and how it happened!

As most of you know, Hannah is quite a bit behind for her age. She’s starting to make gains physically (standing, trying to walk along things) but cognitively, she’s still really behind. We’ve been noticing for a while now a lot of signs of autism. And we’ve had a gut feeling she’s definitely on the spectrum. The geneticist agreed, and sent a referral to a developmental specialist to get it further looked into.

It was a long day filled with lots of info, but feeling good about the appointment.

🤟🏻🤟🏻💕

Surgery #5 complete ✔️ Officaly has a cochlear implant 🤟🏻 we don’t get activated until July 20th, so until then she just heals 💕

Surgery didn’t go completely as planned. Her ear anatomy was different than her scans originally showed which made the surgery extremely difficult. The surgeon thinks he may have nicked her facial nerve. They tried 3 different nerve stimulators, and didn’t get any movement until the last one. Her face isn’t drooping, and she’s making sounds which is a really good sign and the surgeon said if he did hit the nerve that it would be minor and it would repair it self. Basically we have to wait and see once the freezing is worn off how much she can move her face but we’re staying hopeful!!

She’s home and resting now 💖 thank you everyone for all your kind words and thoughts! We have a had busy couple of months, so it means a lot 🥰

It’s implant day!! 🤟🏻💕 keep her in your thoughts 🥰

Nephrology appointment today! Good news, her kidneys look good and are growing, and her cysts aren’t! Her function is at 60% which is great!! Around two is when your kidneys are functioning the way they will stay, so Hannah being almost two and them function at 60% is awesome.

Kidney issues are super super common with Townes brocks, and most people also end up needing transplants. Luckily, Hannah’s kidneys have been the most boring part of her syndrome so far! Hoping it stays that way 💖

WE HAVE A DATE FOR A COCHLEAR IMPLANT!! June 19th here we come!!! 💖💖 this has been the longest wait ever and we are so excited it’s officially happening!!!! Unfortunately, because Hannah’s ears are so small, (the smallest any doctors have seen) she’s only a candidate in one ear. But this will still give plenty of access to sound.

I love Hannah exactly the way she is, her tiny little ears might be my favourite thing about her actually 💕 this doesn’t change the fact that she’s deaf. It’s not a “cure”. It’s simply another route of communication for her to explore. We want her to every single thing offered to her, and then let her decide as she gets older what she prefers. Wether that be spoken language or sign language. Either way, I’m going to make sure she is still a huge part of the deaf community 💖

***a huge throwback of our little princess because her ears are seriously the cutest 😍💖

I’m late on positing but on Monday this girl got her cast off!!! 💖 she still has a ton of healing to do, and she wears a splint for a month. But we are very happy to say goodbye to that big cast!!

The surgeon moved her index finger over and slightly down, and turned it in to mimic a thumb. The goal is that she’ll start to use it like a thumb. It’ll take lots of physio and she’ll never have the full mobility of a real thumb, but the goal is to get close. Thumbs are 60% of hand movement so this surgery was her best bet to be able to lift objects, open things etc. We are still deciding if we are going to go through with her second hand. Right now her hand looks awful, because it’s so fresh. So it’ll all take time to see how it heals and how she uses it before we come to a decision.

But there’s one more surgery for the books 💕

**picture in comments of her new hand incase anyone likes gore lol**

Officially a G tubie! 💕 very happy to get rid of the NG tube and her pretty face finally gets a breather ❤️

Unfortunately, during Hannah’s airway study today, the ENT found that she has a laryngeal cleft. Basically whatever she drinks or eats can go into her lungs. This is pretty frustrating to find out because since she was born we have been fighting to get her eating looked into more. She’s had terrible reflux since she was born. Like full feeds would come up, it would pour out her nose, she would cough and choke. But they always brushed it off and said it was ”normal”. Shes always had a hard time gaining weight as well. It’s taken 20 months, almost two years to get this diagnosis. 20 months she’s been dealing with feeding issues. We don’t know if this is what caused her aversion to food, leading to her g tube. But it definitely could be. The ENT is coming up to the hospital tomorrow to give us some more info on it, but it sounds like surgery is the only way to fix it. I’m glad they found out what was causing all her vomiting, and coughing, but I’m insanely frustrated it took this long because no one took us seriously.

Anyway, on a happier note, Hannah is doing good! She’s definitely tender. But we’ve started feeding through her G tube and she’s tolerating it well! We have a bit of a hospital stay, but hopefully will be able to go home in a few days ❤️

Keep her in your thoughts!! 💕🤟

Update on Hannah 💕

G tube surgery and ear tube replacement is booked for Monday! Also going to be checking her throat and airway to make sure everything is normal and looks good. Will be in the hospital for 2-3 days or so afterwards.

Hannah is doing amazing after her hand surgery! She’s moving around with the cast on, and her other hand looks awesome! 3 and 1/2 weeks to go until she gets her cast off! Busy month but all for the best💕

Surgery went well!! She is not loving the casts and she’s in a lot of pain, but finally asleep in the stroller. 💕🤟 staying over night to keep an eye the finger and home tomorrow!

This babe is finally getting 1/2 thumbs tomorrow! And her extra silly finger removed 🤟💕 Enjoy these throwbacks of her hands because they’re so dang cute ❤️

This surgery is major, and we are feeling all the feels today, and I’m sure tomorrow will be even worse. Just keep us all, especially Hannah, in your thoughts over the next few days ❤️❤️

Hope you guys are all enjoying the weather this week!☀️

Unfortunately we got some annoying news this week.

First, Hannah’s G tube surgery was scheduled for the 20th, but it’s been canceled due to them having another case they need to put first. we completely understand that, but I was really hoping this surgery would be done before her hand surgery on the 27th. Hopefully it’ll happen sooner rather than later but for now the Ng tube is working just fine!

Second, Hannah has been on the wait list for her cochlear implant since November. Apparently they only book the OR when enough kids are on the wait list to get the surgery. So until more children need surgery, Hannah doesn’t get hers. I kind of can understand why, they do them all back to back. But I’m not going to lie, it’s slightly frustrating having Hannah’s surgery pushed back because not enough kids need surgery.

And third, In January 2022, Jon and I went to get bloodwork done to be sent off to see if either of us carry the gene mutation that Hannah has. Finding out is really important as it effects both of our entire families, and our other children. I didn’t hear back so I called yesterday and apparently they lost our blood and nothing was ever done to it. So they have to track down our blood and hope it’s still good for them to run the test to see if we are carriers.

None of this is the end of the world, but it’s all kind of frustrating.

luckily we got blessed with beautiful weather this week which are soaking up! ❤️

Hannah’s hand surgery is still on for April 27th! Keep her in your thoughts 💕💕

Just got done Hannah’s consultation for her G tube! All is set, and happening in the next two weeks once the tube is ordered in!

Her surgeon also mentioned he wants her to have an upper GI study done where she swallows dye to make sure nothing is abnormal. That’ll be done before her surgery so within a week or so.

On a happy note, our happy girl loved the spring weather yesterday! 💓🤟🏼

I want to talk about what it’s like being a medical mom. I said this page was like my journal and tonight i’m going to use it as such.

My heart feels really heavy tonight thinking about everything that’s coming up in the next few months. Her Gtube surgery, her hand surgeries, and her cochlear implants surgery.

Being a mom to a child who needs so much medical attention is the hardest thing i’ve had to do. From weekly appointments, so many hospital stays i’ve lost count, sitting in OR waiting room, and paperwork. Don’t even get me started on the paperwork haha. It’s absolutely exhausting. And I know how that sounds, don’t get me wrong, Hannah is amazing. And I can’t even put into words how much I love her. She brings me so much happiness, and love. But i’m also exhausted. I’m tired of always having something to worry about. What appointment do we have this week, when’s her next surgery, when was her last feed, ugh she pulled her tube out again, she’s constipated again, when does she need her next dose of medicine, Im always thinking about when and why. And it’s exhausting.

I think the hardest part though, is feeling guilty. I have two other beautiful boys at home, who I feel don’t get as much of my attention. I always feel like I have to stop playing with them to tend to Hannah, or ship them off to grandparents when Hannah has an appointment or they get sick, or I have to go days without seeing them when we’re in the hospital. Our lives are so focused her that I feel guilty that they may miss out on something. I know it has to be this way, and so do they. But it doesn’t change how hard it is. My children are my life, and I just feel guilty I can’t always be in two places at once. I’m scared they might grow up to resent me, or Hannah.

I’m lucky I have such an amazing support system because there is absolutely no way I could do this without it. We have such a strong village standing behind us, and I am so incredibly grateful that my children know how loved they are. I know as the boys get older, they’ll understand more, I just hope they know that mama loves them just as much. Those 3 babes are my sunshine.

Being a medical mom is going days without being able to take care of yourself because you have a little one to take care of. It’s forgetting your own medicine but remembering it’s time for your child’s, it’s no sleep some nights, clothes covered in vomit, or p**p. It’s cleaning up messes from feeding tubes. It’s holding your child down for bloodwork, or vitals, or ultrasounds, or inserting feeding tubes. It’s hearing their heart shattering screams as nurses force needles in them. Hannah being deaf, although I think is beautiful about her, is also so hard. She can’t hear me when I try to comfort her. She thinks she’s being held down and tortured and her moms voice can’t soothe her. God, I hope she knows i’m there.

I met a lady the other day who kept telling me “god doesn’t ever give you more than
you can handle” and I really hope that’s true. It’s days like today, where i’m feeling overwhelmed, and scared, that I try and remember, as hard as days like today are. There is no one better for this than me. She needs me. And I’m her advocate. I’m her lifeline.

I’m a medical mom, and although this isn’t how pictured my life, I love this little girl. And I would do this 100 times over again.

To the moon and back, and around the world twice baby girl 💓

The first surgery.

One of many. The hardest one to date. Definitely the hardest emotionally. A rectoplasty. To correct her imperforate a**s. She also received a loop colostomy bag.

The feelings I felt when they called me on that Friday, to tell me they could fit her in on the Monday, I was scared, and sad. Why her? Why does my 6 month old need surgery? Why is life so unfair that she has to go through all this pain, in order to get out of pain. It didn’t make any sense. Honestly, I still feel like that sometimes.

So, Monday morning we got to the hospital at 6am. By 830, they were coming to take her back to the OR. I think that was the hardest part. Not being able to be with her when they put her under, wondering if she was scared, or crying. It was the longest 4 hours of our lives. They finally came to tell us she was out and we could see her. She was so swollen and sleepy. Seeing her with that little colostomy bag was something I never pictured. We had a four day hospital stay after that. Learning her colostomy care, and making sure her incisions were starting to heal okay. She was so incredibly strong throughout the surgery and post OP. There hasn’t been a time she hasn’t shown immense strength.

She always comes out stronger than ever 💓🤟🏼

I’m probably going to be posting a lot, honestly i’m finding it pretty therapeutic for me to be able to reflect on how far we’ve come, and remembering how we all felt during the first year of Hannah’s life. I’ve never been a fan of journaling but I guess in a way, this is kind of like that.

So, after we left the NICU, we had so much we were unsure of. We knew she needed surgery to fix her bum, and her thumbs, we knew she would be followed for the rest of her life due to her kidneys. The main thing we wanted to know was if she could hear.

Ovbiously, we were wishing and hoping that by some miracle those tiny little ears could hear us. But I think we both knew in our hearts that wasn’t the case. Hannah had four ABRs total before they totally confirmed she had profound loss. I hate the word deaf, people think that it’s such a negative thing. But it’s not. We started learning ASL right away!

She has hearing aids, but they don’t give her much benefit because the severity of her loss. She will be getting a cochlear implant in her left ear soon. She wasn’t a candidate for the right ear. This will give her access to sound!

We decided to do the implant because we want her to have every possible route available to her and have it be her choice. If she hates the implant, than we will communicate through ASL. If she loves it, and succeeds with it, we will do spoken language and ASL. The implant doesn’t change the the fact that she’s “deaf”. It’s not a cure, it’s simply another route for her to explore and learn communication. If she chooses not to then that’s okay too. We going to follow her lead. And no matter what, she will be apart of the amazing community that is the deaf community 💓🤟🏼

I’d thought I’d start off from the beginning.

My pregnancy was completely normal for a twin pregnancy. Baby B (Hannah) was always a lot smaller than Baby A (Thomas, her brother), and they weren’t sure that Baby A would make it, at one point I was even told that she didn’t. But after a second opinion, two very healthy babies!

I went in to be induced on August 28th 2021! It went pretty quick, around 7 hours start to finish! It was fast and intense, but also absolutely amazing birthing two babies at once. Baby A came out, got looked at and was perfectly healthy! About 10 minutes later, our world completely changed. Baby B came out, they set her on my chest for what felt like two seconds, then they took her over to look at her. I remember being so dazed and out of it from pushing, they told me she had to go to the NICU and I just sobbed. I made their dad (Jon) go with her and I stayed back with Thomas. I remember I kept asking the nurses what was wrong and no one would tell me anything. Finally after me sobbing for what felt like forever, a nurse told me she wasn’t sure exactly what was wrong, but that Hannah didn’t have any thumbs. I thought it was the end of the world. I was so distraught. Not knowing that was only the beginning.

After about an hour of being back in the room with Thomas, my husband came back to the room. Ill never forget the look on his face. The NICU followed in and told us her many abnormalities.

We stayed for only 5 days in the NICU, but it felt like a lifetime. We saw a lot of different specialties. Most importantly a geneticist. Who said she suspected TBS. After a 3 month wait, we got her blood results back to confirm it. She was officially diagnosed with TBS.

Hi everyone!! Welcome to Hannah’s world! A page where you can follow along Hannah, and learn all about Townes - Brocks Syndrome.

TBS is caused by a gene mutation in the SALL1 gene. This can cause many different abnormalities. For Hannah, she was born with an imperforate a**s, microtia (small, malformed ears), profound hearing loss, no thumbs, an extra finger,a sacral dimple, cysts on her kidneys, feeding issues, and muscle weakness.

She has already had multiple surgeries, with many more coming up, and is in many different therapies. She’s been kicking butt since day 1, and I don’t see that changing any time soon. Follow along to watch her journey unfold.

This is also where my medical mom
brain will post haha! 🥰💓