Baby Charlotte's Medical Support

Backstory

Last November, Baby Charlotte's parents Tammy and Dusty had their world rocked when they were told their baby had multiple abnormalities found upon ultrasound at her anatomy scan. After genetic screening and chromosomal tests came back normal they were sent to Children's Hospital of Wisconsin to see genetic specialists and a neonatologist.  It was quickly determined that Baby Charlotte had a rough road ahead of her but there was no diagnosis to be given. 

The road felt even longer for Tammy and Dusty. They desperately wanted answers that they weren't going to be able to receive until after Charlotte was born. It was a long wait and they remained strong and patient throughout.  

In the beginning of February it was noted upon her fetal echocardiogram that the right side of Charlotte's heart was being forced to work harder  and this is what in turn led to her early delivery just a few weeks later. 

2/28/17- Baby Charlotte entered the world! 

At 35 weeks gestation she weighed 5lbs 3oz and was 18 in long! Much bigger than expected!  

Shortly after delivery she was intubated and placed on a ventilator for airway support. Placing the tube was challenging as Charlotte has micrognathia (extremely small lower jaw) and a cleft palate. Shortly after that it was determined she would need a tracheostomy to maintain her airway as she was at too great of a risk of losing her ET tube. The potential of not being able to place a new one quickly enough made this too high of a risk.

Her great team of doctors noticed that she had multiple features that pointed to a specific genetic mutation and were hoping to have the answers back from her genetic testing within a few weeks. 

During this time Tammy and Dusty had to learn to balance life in a whole new way. Their two older children, Novella 3 1/2 yo and Wyatt 1 1/2 yo, have had to make some big adjustments as well. Novella is a wonderful big sister and loves to hold Charlotte whenever she can. As many little kids do, Wyatt has had a harder time adjusting to having to share his mommy with the hospital and his new sister. The family also was adjusting to living 2 hrs from home at that Ronald McDonald House. As you can imagine, balancing the care of their older children along with feeling like they were being there enough for Charlotte upon everything else takes an emotional toll. They are strong though and adapting quickly! 

On Monday March 27th Charlotte received a diagnosis! 

Shprintzen-Goldberg Syndrome 

An extremely rare connective tissue disorder that has less than 50 cases reported worldwide! 

https://www.marfan.org/download/file/fid/314/Shprintzen-Goldberg.pdf 

As the diagnosis made it easier to determine her plan of care it was time to work on getting her home. She tolerated being weaned off of the ventilator incredibly well and is supported now by a trach collar with humidified air. She was hooking her very long fingers onto her NG tube and pulling it out so it was determined a G-tube was a better solution as her jaw surgeries will have to be postponed until closer to her second birthday. She also started physical therapy to work on her low tone and joint dysfunctions and speech therapy to work on getting her to notice that she has a cute little mouth. She currently is not able to open her eyes and that will be one of her first follow ups next week to decide if surgery will be needed to allow her to look at the world around her. Her first cranial surgery will be performed in about 6 months to correct the early fusing of the bones at the back of her skull. 

Needless to say, there is a lot that will go into managing the care of this sweet little girl. And that's where we come in.

5/11/17- Baby Charlotte WENT HOME!  

This sweet little girl is home for the first time tonight and everyone that knows them is bursting with joy!

How you can help

The family will be making frequent trips to Milwaukee to the Children's Hospital for follow ups, surgeries and consults and the family currently lives over 2 hours away. Their only vehicle is a car that was going to fit 3 car seats but with all of the equipment needed to safely transport Charlotte to and from her appointments it became glaringly obvious that they will need a bigger vehicle. The family will also be needing to move closer to her specialists in Milwaukee and family in Fond du Lac. Charlotte really needs to have her own room and getting the family into a house will help make that a possibilty. 

I have known Tammy almost my entire life and I can tell you how much they truly appreciate each and every one of you for taking the time to read their story and give if you are able. Prayers, thoughts and shares are also incredibly appreciated. 

Thank you!