Anita Frisone

June 30, 2010

Anita was born at 9 a.m. by a planned caesarean section. 2130g birth weight and 45cm in length. From the seventh month of pregnancy we were aware of child growth retardation due to ultrasound. At 12:30 p.m. the doctors warn us that because of facial dysmorphism such as low-hanging ears, eyes down, syndactyly between the second and third toes, small mouth, narrow shoulders, saddle nose, suspected genetic problems. She was hospitalized for 12 days as they checked: chest X-ray, CT skull, heart ultrasound, brain ultrasound, hearing test and eye exam. All of them reported nothing wrong. She didn't feed well so doctors put a nasogastric tube for the period hospitals and she reached a minimum weight of 1905g. They discharged her from the hospital when she weighed 2000g. Everything is going well except that we find it hard to give her milk with bottle feeding, crying while eating. At three months old, a kidney ultrasound showed a pielectasia 6mm to be checked after 5 months. Ultrasound of the hips were normal. Vaccines given as normal. On February 22, they reported there were problems on chromosome 21, but on March 12 they said the problem was in chromosome 22. On March 19, Anita's problem was defined as partial trisomy of chromosome 10 on 22. The mutation is de novo. Karyotype's result is "arr CGH (10q24.2qter) (A_14_P12460-> A_14_P129951), given by the hospital "Gemelli" in Rome. The genetist diagnose possible psychomotor retardation so we started kinesitherapy on April 14. Nowadays Anita is growing well (she's about 6300g and 62cm tall). Only two cases of a cold with fever, May 25 and June 28.

Anita is not hypotonic, is very attentive to the objects and television. She doesn't eat much but is growing. She likes homogenized fruit and homogenized yoghurt. She smiles very little to external stimuli. She's a bit slow to take objects but takes them. She's very attracted to the movement of hands. She holds her head perfectly aligned, she sits with support because she has a bit of a hump.

--- Daniele Frisone

Update: Nov 1, 2012

Anita turns 3.

Anita is now has a younger brother, Alessandro, born on May 18 2011. He was a huge incentivr. I will briefly list the progress she made. She began to walk alone at 25 months. Unfortunately Anita is not quick enough to protect herself when she falls while walking. She has not learned how to put her hands forward to protect herself from hitting her face on the floor She ends up hitting her face on the floor. Often she hurts herself and her nose bleeds. On the whole she is a very quiet girl and is a great sense of observation. She tries to imitate everything her brother does. She imitates his movements and his climbing. Se learned to ride a rocking horse, a tricycle and to jump on the couch to watch his brother.She like crawling and walking on her knees until she manages to get hold of an object which she can use to stand up. Two months ago she has started to stand up by herself even if with asome difficulty .

She moves well in the space around, she uses objects such as brooms, dustpans, rags for cleaning everything from bread crumbs to the water on the sink. He has a very strong and determined, if she does not get what she wants she gets angry and seeks help from any person who can help her to get what she wants. She manages to take off his dress, pants and shoes by herself.She is able to put on shoes without laces.She needs help to wear a T shirt and pants. Since a few days she has stated to put hair bands. If she watches herself in a mirror,she stats combing her hair. She adores dolls with lots of hair and handbags.

Now the biggest problem: Anita has a strong bilateral hearing loss.She hears sounds above 60db. We bought hearing aids but it is difficult to make her keep them on more than 10 minutes. We have to keep trying because the therapist made clear that hearing aids are vert beneficial for her.

Since she can't hear wellshe does not speak. She makes sounds like "da-da" "ma-ma", and when she gets angry she starts babbling. She has much phlegm in the ears which affects her hearing. For this reason she takes cycles of antihistamine drops alternated with cortisone nasal spray.the therapy is giving positive results.When she wakes up she takes a gastroprotector, iron, vitamin C and all the vitamins b daily. She takes the gastroprotector also before dinner, for gastroesophageal reflux.

Food remains a problem. She eats only creamy and soft food. She can not swallow solid things, although the dentition is well under way. She enjoys yoghurt and milk and ketchup! She drinks from the bottle and with the glass by herself. She does not use yet cutlery to eat, but she feeds dolls with a spoon .

Anita is 87cm high, has 47cm head circumference and weighs 11kg. Remains constant at 5 percentile growth. She wears number 20 (Italian) shoes.

A hug to everyone.

Update: Sep 14, 2013

Now Anita wears hearing aids all day. Now she points with the index finger and not with the whole hand and she calls you if he can not do something.

Anita started speech therapy and sign language because she still does not speak.

Anita began to climb alone on the chairs and beds, has improved a lot and if she looses balance she often fails to protect herself with her hands.

She still does not eat solid foods.

She is 92 cm high and weighs 12.5 kg and she wears number 21 shoes.

She started kindergarten a week ago, hopefully good ...

As always sorry for my Google Translate english.

Thank a lot!

Name Anita Frisone
Date of Birth Nov 2009
Gender Female
Diagnosis 10q (10q24.2-qter)
Parents Daniele and Fabiana Frisone
City Rome, Italy
e-mail daniele.frisone[at]gmail[dot]com (change [at] to "@")

6 Months
2 years
3 years

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