Most recently Keagan under went chromosone testing... and we have gotten the results. She has 3 flaws in her chromosone chain... she has a duplication in 22 and 17 and deletion in 3.... the duplication in chromosone 17 is currently not something to worry about... but 22 and 3 are something we need to watch... they currently cause things like developental delays, heart problems, frequent ear infection and eye problems. They have reccommended that her dad and I also go through the testing to futher give them information on why this has happened to her. She also will undergo an ekg/echo of her heart in Feb. as well as meet with a team of doctors in IA City Cleft Clinic to see if or what they can do for the muscle and nerve damage in the right side of her face.
We have also been meeting with an audiologist regularly for testing on her ears. The news we have been getting is disheartening but we are still trying to keep it positive. We do not currently know if Keagan can hear out of her special ear but she can hear out of the left ear. Because of all the cold and flu germs going around she has been struggling with fluid and pressure around her eardrum which can cause hear issues. Also from there we have been meeting with early childhood education teacher/therapist who is going to meet with us to help us help Keagan. They are going to evaluate her every so often and make sure she is hitting her milestones and what we can do to help her meet those. Some of the things we will be doing is dictating our life, reading to her often and singing to her also... these things will help her learn tone, pitch, sounds and syllables while she is still calm enough for us to hold her. So if you see me constantly talking to her or acting goofy singing and what not this is why.
Ok so we have many more doctor's appts to look forward too but as for the moment we are just enjoying our beautiful little girl. We have our 2 appts in Feb then one in March and one in April so far in IA City.
I have the most amazing little girl, who is so beautiful and fun to be around! She is growing like a weed, eating food now and trying to sit up like a big girl! Now if we can just get her to sleep through the night :)
I think that is all the updating for now...
Until next time...
Ashley
Friday, December 28, 2012
So I am new to this...
Ok so I am new to this but I am going to try and use this to keep those who would like to know what is going with Keagan updated. All of the information you will read on her is information as I understand it... I do not claim to completely understand any of it or anything like that. I just ask if you read this or leave comments that you be kind and respectful.
Sooo lets get the basics on here and will continue to update with information as I have time...
Keagan was born on July 10th. When she was born, she was born with a malformed right ear. After not passing hearing tests in her right ear at the hospital we were referred to AEA here in Bettendorf for further testing. Throughout our journey these last 5 months she has had a bagillion different tests. So far she has had a clean MRI and a clean bone scan which is great news but she has had a few diagnoses'
So far she has...
hemifacial microsomia - is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a tracheotomy. It is the second most common facial birth defect after clefts, with an incidence in the range of 1 in 3500 to 4000
microcia -is a congenital deformity where the pinna (external ear) is underdeveloped (microtia). A completely undeveloped pinna is referred to as anotia (anotia). Because microtia and anotia have the same origin, it can be referred to as microtia-anotia.[1] Microtia can be unilateral (one side only) or bilateral (affecting both sides). Microtia occurs in 1 out of about 8,000–10,000 births.
duane syndrome - is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to abduct or move outwards. It affects the neural pathways associated with the sixth cranial nerve and the parts of the brain associated with reason and taste[
Sooo lets get the basics on here and will continue to update with information as I have time...
Keagan was born on July 10th. When she was born, she was born with a malformed right ear. After not passing hearing tests in her right ear at the hospital we were referred to AEA here in Bettendorf for further testing. Throughout our journey these last 5 months she has had a bagillion different tests. So far she has had a clean MRI and a clean bone scan which is great news but she has had a few diagnoses'
So far she has...
hemifacial microsomia - is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a tracheotomy. It is the second most common facial birth defect after clefts, with an incidence in the range of 1 in 3500 to 4000
microcia -is a congenital deformity where the pinna (external ear) is underdeveloped (microtia). A completely undeveloped pinna is referred to as anotia (anotia). Because microtia and anotia have the same origin, it can be referred to as microtia-anotia.[1] Microtia can be unilateral (one side only) or bilateral (affecting both sides). Microtia occurs in 1 out of about 8,000–10,000 births.
duane syndrome - is a rare, congenital eye movement disorder most commonly characterized by the inability of the eye to abduct or move outwards. It affects the neural pathways associated with the sixth cranial nerve and the parts of the brain associated with reason and taste[
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