Savannah: Age 5
Diagnosis: Opitz gbbb type 2 syndrome & Sticklers type 2 syndrome
After a crazy turn of events our insurance covered whole exome sequencing. My hubby, Savvy, & I were tested. We waited 5 long months. Knowing we had a very little chance of getting any answers. But by the grace of God we got answers!!! Savvy has 5 different genes. 3 of them at this time are not considered to be making a difference.
Her main health problems are attributed to Opitz gbbb type 2 syndrome. This was spontaneous and not passed through her parents. She will have a 50% chance of paying it down though. This covers her laryngeal cleft type 3, dilated heart valves, & developmental delays. As far as it is known this syndrome happens before birth & does not deteriorate.
The other different gene is responsible for Sticklers type 2 syndrome. This one was passed genetically. I learned I had this. Now I’m trying to find a Dr for myself. Savvy & I both have a 50% chance of passing this. This is linked to hearing loss, vision loss, & joint issues. This syndrome is progressive. But there are a few things that can be done to slow it down if you know it’s coming. And now we do!
So far I’m not able to find anyone else with this combination. But we’re elated that after 5 years we have answers
My name is Savannah Rose. But most people call me Savvy. I am almost 5 years old. I live in the United States of America.
My mom and dad were so excited to have a typical and healthy pregnancy. The day I was born the house got vacuumed and the car seat was placed properly in the car. What they didn’t know was that I wasn’t coming home the next day. Instead it would be about four and a half months later.
When my Mommy was delivering me things got complicated quick. My heart rate started to plummet. So I was born via c-section. Which was good since I wasn’t breathing when I was born. The nurses and doctors helped me to breathe and rushed me off to the NICU. Thanks to an amazing doctor a new treatment was suggested to potentially help my brain from being too damaged from lack of oxygen. I had to go through a cooling therapy (induced hypothermia) for 3 days. Then an MRI would let us know how much damage there might be. During this time my mommy and daddy could only touch my fingers for short periods so they wouldn’t warm me up. I was covered with tubes to help me breathe, eat, give me medicine and check my vitals. Finally on the fourth day I was warmed up and Mommy and daddy got to hold me on mother’s day!
The next week I was finally getting strong enough to try to eat without tubes. The nurses and my mommy noticed every time I tried to eat I would turn blue and cough a lot. I also sounded a little different. My scream could barely be heard at the door way. And I sounded very raspy when I was breathing. The doctor called it stridor. A lot of babies had it and just grow out of it. But they sent a doctor to check my trachea anyways. Good thing!
After the doctor checked my trachea it was decided I should be transferred to the children’s hospital for an evaluation before going home to make sure everything was OK.
Then shortly after I arrived at the children’s hospital my new doctor discovered I had a Laryngeal Cleft type 3 and severe tracheo/bronchi malacia.
It wasn’t safe for me to eat so I had a gtube placed. I kept throwing up a lot (which is very dangerous for an LC type 3) so I was switched to a g/j tube. After several more surgeries to fix my LC type 3 I still wasn’t strong enough to breathe on my own. I needed CPR for the second time! The doctors decided it was best for me to have a tracheotomy tube and a ventilator. But after 4 days with a trach I proved I didn’t need a ventilator!!! My parents had to train really hard on how to take care of me.
After four months I was finally ready to go home!
Several early intervention therapists and my mommy started my therapy at home. They helped me to learn how to crawl, walk, and even learn some ASL. With a trach I couldn’t talk. Not even cry out loud. I also was diagnosed with Oral Aversion. I tried several feeding therapies but I wasn’t ready to put anything edible in my mouth. With the help of everyone I can walk and I’m starting to run (walk slightly faster).
The weekend after my first Christmas I went on my first vacation to my grandma’s house. On the way there we stopped to get gas and eat breakfast. I had to have CPR for the third time. There was no doctor or nurses. Just me and my mommy on the bathroom floor of a restaurant. Everything turned out OK and I finally got to grandma’s house.
My first couple years were filled with lots of doctor appointments, therapies, trainings, hospital stays, and more. Even with a g/j tube I kept throwing up almost everyday. Sometimes multiple times a day. We tried a few different formulas but nothing helped. After some time we learned i had intestinal malrotation. The doctors were able to remove my appendix and untwist everything without losing any of my intestines. This greatly helped my throwing up problem.
During all of this I kept testing low on my right ear for hearing. After a few ABR’s it was determined I needed a hearing aid. I love it! I’m very protective of it.
I had a pretty major surgery just after I turned 3 years old. Then 3 more times in the OR that month. Making a grand total of 24 times I’ve been in the OR and I was only 3 years old! This was the fourth attempt to correct my LC type 3. Everything we’ve tried so far has failed. This time I had a piece of my rib cartilage grafted into my trachea to close my LC type 3. And I had some excess tissue in my trachea taken off. Sadly we learned later this attempt failed as well.
The first week after this surgery I broke my record and went four days off oxygen support at night! Unfortunately the next day I needed CPR for the fourth time. This time it was just me and my daddy at home. Things turned out fine after everything calmed down. Since then I’ve been all over the map in my oxygen needs.
For unknown reasons after this surgery I no longer tolerated my formula. We tried a few different types but nothing worked. I threw up every meal. My mommy tried a blended diet and I immediately stopped throwing up! She’s been making it everyday for me for seven months now. And I’m finally thriving.
When I was three and a half years old I started preschool at the school for the deaf and blind. It has been amazing! Since I just barely started to make some voice sounds; ASL is the best way for me to communicate. I’m already starting three word phrases! Watching the other kids eat is helping me to address my Oral Aversion. I’ve even started to lick some foods. My family even heard me laugh out loud recently! I kinda sound like Woody the Woodpecker when I laugh. I’m trying to wear a Passy – Muir Valve to help with talking but so far I don’t seem like it.
Recently my mommy and daddy learned how to do trach inhalers and CPT. We do it every morning and evening. It takes about forty minutes. Sometimes I don’t mind and other times I hate it. My mommy wants to get me a percussion therapy vest but my insurance isn’t sure if they want to cover it for me even though it could help me to breathe better.
My parents have thought about having a Whole Genome Sequencing done but are worried insurance won’t cover it since it’s not “medically necessary”. The hard part is not knowing if there are more challenges awaiting me in the future.
I’m usually a pretty happy kid. I really like my picture being taken. I’ve actually done a few photo shoots. One of my pictures was even on the cover of a magazine! I don’t let anything get in my way. I’m a Super Tubie and proud of it!
Email communications can go through mom Patty at firstname.lastname@example.org