Filippo (Phil) Colasanti
Born: 7 September 1996
Diagnosed: June 1998
Place: Rome, ITALY
Filippo (Phil) Colasanti was born in Rome, ITALY, on 7th September 1996 after 39 weeks of pregnancy. His weight at birth was 3,750 Kg.
His mother suffered from polyhydramnios probably caused by PKS. She also had an amniocentesis but the syndrome didn't show up.
He suffered from breathing problems (distress) and he was in the Neonatal Intensive Care nursery for 4 weeks. He had low muscle tone at birth, sparse scalp hair, a high forehead, a wide space between the eyes, a broad nasal bridge and hypopigmentation (streaks of skin in which there is no colour).
I will never forget many of the sensations I had during the first days of Phil's life. The first time I saw him with tubes and wires, the long time he spent in the hospital (4 weeks) with the daily visits taking hundreds of kilometres. The vague explanation that doctors gave us.
We are Italians and we live in Rome. We didn't receive very good support from the Italian Health Care system at the beginning and we spent a lot of time in finding the right specialists. PKS was quite mysterious in Italy in 1996 and it still is pretty unknown.At the beginning we wasted a lot of time and money with doctors asserting the strangest hypothesis like the percentage of iron in his blood. One doctor told us that the child was almost perfect, another one told us that he was in terrible conditions. We were really confused and sad.
Phil has been diagnosed with PKS at the age of 20 months. The diagnosis was that 26% of his cells are injured with Tetrasomy 12p 46,XY[37]/47,XY,+i(12p)[13] also known as Pallister-Killian Syndrome.
The syndrome was relatively "new", very poorly spread and studied and it has so many characteristics that could be attributable. Everything about it makes it a complex syndrome to manage.
The approach that we followed was to give low relevance to the genetic aberration itself but instead consider each single symptom individually, concentrating on the problems and trying to solve them one at a time. At the beginning I was disorientated but now I feel it was quite a good way to approach an unknown syndrome. And it is working.
During the first three years of his life Phil attended several hospitals in Rome to check or to treat the different disabilities.
Phil had 2 EEG's and one MRI scan but no anomalies resulted.We went on step by step. First of all we analysed all the main anomalies reported for PKS on scientific papers (heart, digestive system, eyesight, hearing, etc.). All the vital functions were ok.
FIRST STEP
The first very important step was "walking". He started crawling at 12 months and he started walking at the age of two. He just had a low muscle tone and we helped him with a method derived from the "Glenn Doman" one (but much lighter). It has very important to him because he improved much faster also in other areas.SECOND STEP
The second important step was "hearing". Phil went through 4 different hearing tests with 4 different results!
We have a lot of charts describing the decibel of attenuation (his hearing) at the different frequencies. It may be important but not very useful. After 4 tests we decided to move to another doctor and in a short time we improved the situation so much! He has some problem in the shape of his mouth (muscular hypotone, big tongue, etc) that had negative effect on his hearing but with simple surgery (Ventilation Tube) Phil's hearing improved enormously and consequently, he started to speak. He started a speech therapy at three and he still attends a speech therapist twice a week and things have been improved a lot. It was quite simple but it took 3 years to get the result!THIRD STEP
Phil has several "small" anomalies derived from PKS and we decided to fix one problem at the time. Cryptorchidism is typical in children with PKS and other genetic syndromes and it could take to cancer and infections. Since his testicles were not in the right position, we decided to fix it with a surgery on March 2003. Phil suffered from ear infections all along the 2003 using dozen different antibiotics. On November 2003 he had a new surgery inserting fixed Ventilation Tubes. It improved the situation although it doesn't fix the problem totally. Having the tubes inserted in his ear-drums means avoid swimming pools and paying an higher level of attention during daily life. Next medical issue will be reducing the gap between his jaws (lower jaw is bigger than the upper one). It will improve language and chewing but it will take time.FOURTH STEP
Our long-term target now is a greater "level of independence" that includes toilet training (still not perfect), the ability to dress/undress, socializing, read and write, etc.
We made mistakes, we trusted the wrong people, we wasted time. We keep on trying. We are aware that Phil needs more attentions than a "normal" boy but we treat him as a "normal" child as much as possible and we are sure Phil makes progress day by day. Phil has always attended a "normal" school from the time he was 6 months old. He was able to write his name, spell and count up to 5 at the age of 4. He went to kindergarten and did the majority of the activities with the other 3 to 5 year old children. Phil started elementary school at the age of 7 and during the first year he was able to learn reading and writing and to solve simple problems with sums and subtractions. He has a limited learning support with a dedicated teacher for 10 hours a week.At the age of 7 he can run as fast as "normal" 5 year old kid and he enjoys going on the slide or swings with the other kids. He can ride bike (but he gets tired very quickly) but he walks for hours. He is a nice boy often happy and friendly . He loves cartoons, drawing and playing with puppets, small plastic animals and LEGO or similar things. He likes reading books and hearing fairy tales.
He can eat almost the same food we have although he is quite energetic eater. He really loves chocolate and sweets. He has a very sweet tooth. On February 2002 he enjoyed a swimming class. He liked it a lot and he was very committed to it but we had to stop it after 16 months for the continuous ear infections. To go on doing some sport he joined a Judo class in September 2003. When Phil was older than 3 years old we decided to have another baby (Phil is our first child). We were very apprehensive but now we are very happy for several reasons, especially for the "therapeutic" effect he is having on Phil. Daniele joined us on 26th October 2000, when Phil was 4.
An update: June 2005
Phil is almost 9 year-old now and he completed successfully the second class of the elementary public school in Rome. He can read, even if he doesn’t like it very much. He prefers performing maths (sum, subtractions, multiplications) and simple problems.He is fine and healthy. His main problem is still the language. He is still attending Speech Therapy mostly focused on improving the control of the lips and tongue.
On may 2005 he run the S. G. Komen Breast Cancer Foundation’s Race for the Cure 5 km Marathon (he is the one wearing red) in less than one hour, mostly walking.
