What we have not yet shared publically about Isabel is the cause of all of her medical issues. We have been reluctant for a variety of reasons, but now feel that we are ready. Isabel has been diagnosed with CHARGE syndrome. CHARGE is an acronym for several conditions that individuals can have, and until recent years the combination of some, or all, of these conditions was the only way that the syndrome was diagnosed.
This is the acronym that was used to diagnose CHARGE:
C - Coloboma of the eye (malformation of the iris and/or retina)
H - Heart defect
A - Atresia of the choanae (blocked nasal passages)
R - Retardation of growth and/or development
G - Genital or urinary abnormalities
E - Ear abnormalities
In 2004, a single gene mutation was discovered as one cause of CHARGE. Only about half of individuals with a CHARGE diagnosis have a mutation in this gene. Isabel’s genetic testing revealed that she does have this mutation. Sure we were nervous when we received this information, but overall we were relieved. In the weeks leading up to the formal diagnosis, many doctors suspected that she had CHARGE, some were positive that she did, others were not sure. They were not sure if the test would be positive and give us an answer, or negative and give us nothing, and they were not sure if there was some other underlying cause for her issues. So, we felt relieved. We had an answer and we could move forward.
What we know about Isabel is that she was born with a heart defect (Incomplete AVSD), blocked nasal passages, and malformations of both her eyes and ears. Her nasal passages and heart have been repaired, although she will most likely need a follow up heart surgery sometime in the future. We know that she can see and hear, but don’t know to what extent. She will be having full hearing and vision exams in the near future to determine if she has any impairments in either of those areas.
Having both blocked nasal passages and a heart defect that causes increased work for breathing were the main reasons for having to be on a ventilator. Her lungs work just fine! Despite her lungs working well, being on a vent can stress the airways to the lungs making them weak (Tracheobronchomalacia). This is why she is still on the ventilator now, and will be for a while in order to give her airways time to grow and strengthen. Having a tracheostomy allows her to be on the vent, without holding her back in other ways. We’ll just have to wait and see how long she needs it.
What we also know about Isabel is that she has gorgeous, wavy, auburn hair, a dimple on her left cheek, dimples on her elbows, long skinny feet, toes, and fingers, and a spirit that won’t quit. She has a very strong grip, long thick eyelashes, and loves her pacifier. She has her daddy’s brown eyes and her mama’s knobby chin. Her fingernails grow really fast. She rolls her eyes like a teenager, and scrunches up her face to let Mama to know she is “done” with taking pictures. She loves to listen to music and the sound of Daddy’s voice. She has captured our hearts and the hearts of many of her caregivers.
There are still a lot of things that we don’t know about her growth and development in the future, but then again, no one knows what their child will be like, or what they will need. We are scared and nervous because we do not know what our lives will be like, and we are so excited to learn more about our little girl. Her likes and dislikes, her personality, who she really is, and how many lives she will touch through the journey. We love her more than we can even begin to explain.
Thank you all so much for your constant encouragement, love, support, and prayers over the past few months. It has been a crazy roller coaster so far, and we have a feeling that the ride is only beginning...
