Well talk about not having to wait! Dr Boney (yes that is her name) Kelsey's endocrinologist, called this afternoon......and her heart is GREAT!!! The murmur is just that a murmur. Everything is perfect for now. She goes back for another echo next year!!!! WOOHOOO!!!! Dr Boney just said to wear a chest protector for hockey!.
Kelsey is going to be thrilled! Well off to register her for this season and get ready to play on Friday night at the girls clinic!!!!
Wednesday, July 27, 2011
Tuesday, July 26, 2011
In the beginning.....
So first thing is first....kidneys are good....echo went well but we wait to hear it from the doctors later this week...now how did we get here.....
Kelsey came into this world FAST! She was here within an hour of arriving at the hospital ...by c section mind you...and it was rough on both of us.She was barely 7lb... a far cry form the 9 and 1/2 lber that I was expecting!!! I actually asked the dr to check again because the predictions had been she would be over 9lbs. But she was here and healthy and I was DONE!
She turned blue twice during our stay at the hospital....why we don't know,....I must have asked a dozen times that week what is wrong with her ( I knew that something wasn't right...she couldn't close her mouth)...."section babies don't get squeezed out so they have a lot of "junk" to get out of their lungs" after the first tine she did it while I was feeding her with the nurse in the room about 10 hours after she was born .....the second time was 2 days later and I was alone with her and it was just after I had finished feeding her and placed her down to sleep....I never moved so fast in my life! But again it was "she was a section baby" Feeding was not going well....I was trying to nurse but she was not latching well...even her latch on to a bottle was poor. She wore more than she ate! This would be a trend for her for the first year of her life.
As time went on by 11 weeks I was back to work with a baby who projectile vomited her bottles, what she did get in, and was soaked after every feeding from the neck down. But she was a tiny smiley baby! She caught RSV and we spent a day at the hospital....then began ear infections, bronchitis, ear infections, fevers, ear infections (11 of them in 9 months) But she was beautiful baby girl with a mess of soft curly hair and huge brown eyes! Within her first year of life she was involved with Early Intervention/Failure to Thrive dx 9lb@ 6mo 13lb @1year...she did not make sounds other than screaming/screeching (hearing loss/ear infections) Sensory Integration Disorder (oral,texture sensitivity) and food allergies (milk)....Preschool was tough ...she learns differently and socially she is rough with others but her size makes it so she gets away with alot because she looks alot younger. She had her first set of ear tubes at 13 months, then adnoidectomy at 15 months, Tonsillectomy( she closed her mouth for the first time the tonsils were so big they blocked her breathing when her mouth was closed...feeding and sleeping were hard up till then) and new tubes at 2 years, New tubes at 3 1/2, another set of tubes at 5. Hearing loss dx at 4yo. With all of this she was always small......but on the lowest point of the growth chart as she always grew...till this year when she didn't.....(well less then 1/2" in 18months)
In May she went to a pediatric dermatologist for the vitaligo and eczema . Derm wanted her thyroid checked because short stature and vitaligo can match up with thyroid issues....so pediatrician agreed and off for blood work we went.....thyroid came back wonky so we went to pediatric endocrinologist......more blood work and that's how it all got put together and Kelsey was DX with Turner's Syndrome.....Finally an answer to my question I asked 6 years ago....what is wrong with her.....but now it not what is wrong but what make her Kelsey!
Kelsey came into this world FAST! She was here within an hour of arriving at the hospital ...by c section mind you...and it was rough on both of us.She was barely 7lb... a far cry form the 9 and 1/2 lber that I was expecting!!! I actually asked the dr to check again because the predictions had been she would be over 9lbs. But she was here and healthy and I was DONE!
She turned blue twice during our stay at the hospital....why we don't know,....I must have asked a dozen times that week what is wrong with her ( I knew that something wasn't right...she couldn't close her mouth)...."section babies don't get squeezed out so they have a lot of "junk" to get out of their lungs" after the first tine she did it while I was feeding her with the nurse in the room about 10 hours after she was born .....the second time was 2 days later and I was alone with her and it was just after I had finished feeding her and placed her down to sleep....I never moved so fast in my life! But again it was "she was a section baby" Feeding was not going well....I was trying to nurse but she was not latching well...even her latch on to a bottle was poor. She wore more than she ate! This would be a trend for her for the first year of her life.
As time went on by 11 weeks I was back to work with a baby who projectile vomited her bottles, what she did get in, and was soaked after every feeding from the neck down. But she was a tiny smiley baby! She caught RSV and we spent a day at the hospital....then began ear infections, bronchitis, ear infections, fevers, ear infections (11 of them in 9 months) But she was beautiful baby girl with a mess of soft curly hair and huge brown eyes! Within her first year of life she was involved with Early Intervention/Failure to Thrive dx 9lb@ 6mo 13lb @1year...she did not make sounds other than screaming/screeching (hearing loss/ear infections) Sensory Integration Disorder (oral,texture sensitivity) and food allergies (milk)....Preschool was tough ...she learns differently and socially she is rough with others but her size makes it so she gets away with alot because she looks alot younger. She had her first set of ear tubes at 13 months, then adnoidectomy at 15 months, Tonsillectomy( she closed her mouth for the first time the tonsils were so big they blocked her breathing when her mouth was closed...feeding and sleeping were hard up till then) and new tubes at 2 years, New tubes at 3 1/2, another set of tubes at 5. Hearing loss dx at 4yo. With all of this she was always small......but on the lowest point of the growth chart as she always grew...till this year when she didn't.....(well less then 1/2" in 18months)
In May she went to a pediatric dermatologist for the vitaligo and eczema . Derm wanted her thyroid checked because short stature and vitaligo can match up with thyroid issues....so pediatrician agreed and off for blood work we went.....thyroid came back wonky so we went to pediatric endocrinologist......more blood work and that's how it all got put together and Kelsey was DX with Turner's Syndrome.....Finally an answer to my question I asked 6 years ago....what is wrong with her.....but now it not what is wrong but what make her Kelsey!
Monday, July 25, 2011
Welcome to Growing Up Kelsey
How did we get here.....
6 years....6 years it took to get here. That's a long time when you look back. Over the past three weeks so many times people have asked me why no one picked up on this earlier. I can't answer them, other than to say no one was looking for it. But I will say I have always said that something was not right from the day she was born.
If you are here you know us and want to know what is going on....for those of you who are new to the story....I am Jenn. Darryl and I are raising Kianna and Kelsey here in RI. Kianna is a great gymnast, a fantastic singer and good student...she definitely is beginning to give us pre-teen attitude but she is generally a good kid. Kelsey is my little firecracker! She loves hockey (and gymnastics by default) and swimming actually she loves anything that requires her to be moving!!! She can be a challenge but what kid isn't.
Three weeks ago Kelsey was diagnosed with mosaic Turner's Syndrome. She has 80% one x chromosome is missing part of its x and part is damaged and 20% one x is missing all together. Turner's Syndrome is characterized by
Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same symptoms.
Okay now that I gave you all the technical stuff...here is how Kelsey is affected so far....
Short stature,Low hairline ,high-arch palate (narrow maxilla),pigmented moles, drooping eyelids,thyroid, ear infections/hearing loss, High waist-to-hip ratio (the hips are not much bigger than the waist),soft upturned nails and probably adhd and nld...we are going to doctors this week to look at her kidneys and heart.
So up next will be how we got to this diagnosis and where we are going....
6 years....6 years it took to get here. That's a long time when you look back. Over the past three weeks so many times people have asked me why no one picked up on this earlier. I can't answer them, other than to say no one was looking for it. But I will say I have always said that something was not right from the day she was born.
If you are here you know us and want to know what is going on....for those of you who are new to the story....I am Jenn. Darryl and I are raising Kianna and Kelsey here in RI. Kianna is a great gymnast, a fantastic singer and good student...she definitely is beginning to give us pre-teen attitude but she is generally a good kid. Kelsey is my little firecracker! She loves hockey (and gymnastics by default) and swimming actually she loves anything that requires her to be moving!!! She can be a challenge but what kid isn't.
Three weeks ago Kelsey was diagnosed with mosaic Turner's Syndrome. She has 80% one x chromosome is missing part of its x and part is damaged and 20% one x is missing all together. Turner's Syndrome is characterized by
- Short stature
- Lymphedema (swelling) of the hands and feet
- Broad chest (shield chest) and widely spaced nipples
- Low hairline
- Low-set ears
- Reproductive sterility
- Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrosed)
- the absence of a menstrual period
- Increased weight, obesity
- Shield shaped thorax of heart
- Shortened metacarpal IV
- Small fingernails
- Characteristic facial features
- high-arch palate (narrow maxilla).
- pigmented moles
- Webbed neck from cystic hygroma in infancy
- Coarctation of the aorta
- Bicuspid aortic valve
- Poor breast development
- Horseshoe kidney
- Visual impairments sclera, cornea, glaucoma, etc.
- drooping eyelids
- a small lower jaw
- Ear infections and hearing loss
- High waist-to-hip ratio (the hips are not much bigger than the waist)
- cubitus valgus (turned-in elbows),
- soft upturned nails
- Thyroid issues
- Attention Deficit/Hyperactivity Disorder or ADHD (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
- Nonverbal Learning Disability (problems with math, social skills and spatial relations)
Okay now that I gave you all the technical stuff...here is how Kelsey is affected so far....
Short stature,Low hairline ,high-arch palate (narrow maxilla),pigmented moles, drooping eyelids,thyroid, ear infections/hearing loss, High waist-to-hip ratio (the hips are not much bigger than the waist),soft upturned nails and probably adhd and nld...we are going to doctors this week to look at her kidneys and heart.
So up next will be how we got to this diagnosis and where we are going....
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