Culllen

Heather, Thank you for starting this! My name is Dawn and my son, Cullen, was diagnosed with Tetrasomy 9p at 6 months of age.

Age: 1 year

First Diagnosed: 6 months

Birth weight: 5lbs 4oz

Current weight: 28 lbs

Anomalies:

* Sacral dimple with low-normal conus medullaris

* Single palmar crease

* Low tone hearing loss (may be related to excess ear fluid)

* Large fontanel* Very slow growth - in 3rd percentile

* Psedoarthrosis of the right clavical (collar bone formed in 2 pieces)

* Delayed gross motor skills

* Sat up at 8 months

* Mild left pelvicaliectasis

* Under ossification of pubic bonesMuch of this sounds far worse that it really is. Most of his conditions are what doctors call "variations of normal". In other words, everyone has some deviation of normal. Like Heather, I look forward to meeting all of you!
January 13, 2009 6:43 PM

Questions, concerns, and feelings!!

Having Hallie has truly been a blessing for my husband Jerry and I. She is so amazing!! She has such a sweet demeanor about her. She is always out to please us! She does have the "typical" toddler attitude! She gets upset when she doesn't get what she wants or when she is punished for doing something she isn't supposed to! But shes an angel! My big concerns are for the future~ will she lead a "normal" life? Will she do good in school and keep up with her classmates? Will she fall in love and be able to have a family? These things really scare me as time goes on but we have given it all to God and know he has a plan for her. She has a surgery coming up this fall to have her heart fixed, I'm really nervous about that, I think its normal! Well those are the feelings for the day!

Esteban

Esteban








I am so happy and excited that this blog exists. Thank you for starting this! My name is Luisa, I am 24 years old and my son Esteban was diagnosed with Tetrasomy 9p, when I was 23 weeks pregnant.
Age: 8 Months
First Diagnosed: 6 months
Birth weight: 6lbs 11oz
Current weight: 16.5 lbs
Anomalies: * Mild Dialation of his heart's Aortic Root
* Single palmar crease
* Large fontanel
* Slow growth - 5th percentile in weight & 25th in height.
* Rolled Over at 3.5 months.
* Sat up at 8 months
* Started saying "mamama and papapa" at 8 months(1 week ago) From the moment he was born he has been a very calm and happy baby. He enjoys playing with his toys, hugging his cousins, and being held by mommie at all times :) I look forward to sharing all my experiences and stories with all of you!!!

Results of Recent Appointments:

Please share any pertinent information!

Upcoming Appointments

Hallie has an upcoming Neurology apt. On Feb. 16th. Thank you Dawn for mentioning it to me that Cullen was being seen as well I hope that everything went well! If you feel comfortable with sharing that would be great!! I will also do another post for Results of the apts.!

Hallie 1 week old

Hallie 6 months old

Hallie 14 months old

Hallie 16 months old

Hallie 26 months old

My name is Heather and I'm starting this blog for others with this disorder. My 2 year old daughter Hallie was diagnosed at 16 months with Tetrasomy 9p. I would love to be able to compare and share stories with others who have experience with Tetrasomy 9p. I will layout a baseline of Hallies history and anomalies.

Age: 2 years old

First Diagnosed: 16 months

Birth weight: 7lbs 8oz

Current weight: 24.7 lbs

Anomalies (In order of discovery):

* Hypoxia until 3 months of age, required 02.

*Atrial Septal Defect (found at 1 month)

* Large fontanel

* Very slow growth (3rd percentile for weight)

*Underdeveloped right collar bone (found at 7 months)

* Low muscle tone (diagnosed at 10 months)

*Delayed gross motor skills~Sat up at 7 months~ Crawled at 12 months~Walked at 21 months

*Tetrasomy 9p ( diagnosed at 16 months)

* Hydronephrosis of right kidney

*Sacral dimple*Unusually formed toe nails

*Lactose intolerance

* Most recent-a cyst on her right cheek (was removed) we believe this is related to the disorder.

She sees a genectist at UNC Hospital in North Carolina for this, however there is very little information that has been compared. She also sees a Physical, Speech and Occupational Therapists, to ensure she stays on track. However she is behind in all areas. I hope that this information can be helpful to you and you will share your stories. I only ask that we keep this blog strictly for Tetrasomy 9p, I would love to have others but it would interfere with research purposes.