Gabrielle’s Story

Site created on November 14, 2018

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Gabrielle was born May 26, 2018 weighing in at  6lbs, 3.2 oz.  and 19 inches long.  During her stay at Bronson, the pediatrician made the following diagnosis: Concern for craniosynostosis with possible genetic component
1. Newborn found to have smooth coronal cranial sutures and also possible synostotic lambdoid sutures with wide anterior and very large posterior fontanelle. Concern for craniosynostosis. Newborn acting appropriately during hospital stay. 
2. Father of baby also required craniosynostosis repair and also has hx of ptosis, deviated nasal septum, hearing issues, short stature. Newborn's brother has autism (but different father) and there was a maternal grandfather with syndactyly. Given possible concerning features on newborn and father of baby's medical history, possibility of genetic syndrome. I question if the family has Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type III which is autosomal dominant. 


We were referred to Mott's children's hospital at the University of Michigan hospital in Ann Arbor and met with head pediatric plastic surgeon Dr. Buchman and head pediatric neurosurgeon Dr. Muraszko, along with half a dozen other residents.  We followed up the visit with a fast scan MRI to confirm the craniosynostosis and start a plan of action. It was determined that she would need Cranial Vault Reconstructive surgery before her first birthday.  A surgery similar to the ones John had when he was little.   We also met with Dr. Del Monte, a pediatric ophthalmologist at the Kellogg Eye Center.  He checked her eyes to make sure that there wasn't any pressure on the optic nerve from her growing brain.  Luckily at this point she is doing great.  He did diagnose her with Ptosis, a droopy left eyelid.  He also indicated that she may have to have glasses at an early age.  We will be following up with him in January.  We also consulted with Dr. Quinonez, a genetics doctor that ran blood test that confirmed her Saethre-Chotzen syndrome diagnosis.  John will be getting tested as well to confirm that it is 100% genetic.


This past november Gabrielle met with Dr. Bohm, an ENT.  She also confirmed that Gabrielle is exhibiting symptoms of Saethre-Chotzen syndrome including flattened facial features that could cause issues with congestion.  She scoped her nose and noticed that the right nostril is structurally blocked.  Surgery may be an option in the future, but we will be waiting until after the Cranial Vault Reconstruction surgery.  Gabrielle also endured an audiogram test and we found that she has fluid behind her ear drums.  Tubes will be an option, but again, we will need to wait.  We will be following up with them after her february sleep study.


We are meeting regularly with her pediatrician and early on advocate and find that Gabrielle is healthy and thriving.  None of this syndrome seems to be slowing her down which gives us lots of hope and optimism.  She smiles and laughs and is such a good tempered little girl.  She has a long road ahead with follow up appointments, detailed MRI and CT scans, and even a sleep study all before she heads off to surgery.  But she is strong and is a child of God and is destined for great things.  John and I have waited 15 years for her and feel so blessed to hold her every day.


Many people have asked how they can help us.  I think the biggest thing we are looking for is prayers and happy thoughts as she starts this journey.   I'm sure we will need help when she has surgery in the form of friendship and someone to sit with her so we can get rest too, and maybe the gift of a good meal.  I will try to keep this updated as she has been blessed with a huge support network.  


Newest Update

Journal entry by Rebecca Brancheau

I haven’t been able to update this like I’ve wanted to. It’s been busy and chaotic. Surgery went as expected. She did battle high fevers but was allowed to leave Tuesday. Her eyes remained swollen shut until yesterday (over a week post op). She still is only peeping them.

Friday, the 21st I woke up at 3am to Gaby whimpering and whining in her bed. I went to change her and she was burning up. I checked her temp and it was 104. We gave her a cool bath and some Tylenol and called the on call plastic surgeon who encouraged us to make the trip to Motts ER. She went through a battery of poking and prodding to rule out a handful of possible infections. She tested positive for Ecoli. And after her WBC increased to 35 and she continued to battle fevers they needed to test her for meningitis. The thing with that though it that regardless of the results she needs to be admitted and begin IV antibiotics treatment while they culture the fluid. So here it is Sunday night. They still haven’t figured out the source of the infection it her numbers are better. They have stopped antibiotics to see how her body reacts. Hopefully we can go home by Wednesday. In the meantime many of my friends have asked how they can help. My friends Aubrey and Tammy have set up a Facebook group and go fund me page. This is for those that want to help with dinners, time, or financially. We feel blessed for all of the love,prayers and support. And are super appreciative. Here’s the link to the Facebook page. https://www.facebook.com/groups/1168956493299786/?ref=share

GoFundMe page: gf.me/u/tnrchb
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