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Hi this is a little story about my son Joshua. When i was about 32 weeks pregnant my doctor found that my stomach was measuring full term, so immediately they started do ultrasound twice a week & i was put on bed rest. The doctor recommended that i get the amniocentesis done so we can find out if my son would be born with any complications. So at 36 weeks i went into my appointment for the amniocentesis and the moment they finished i went into labor.
January 14, 2012 Joshua Logan Ortega was born 5lb 12 1/2 oz 17in long. As soon as he came out he was rushed away due to not breathing for 3 mins. After a couple of hours which felt like forever I finally got to see my son in the NICU. Doctors came to explain that Joshua came out with a high arched pallet with caused him to have difficulty feeding. They told me day after day that my son will need to be tube fed and as he grows it might be permanent. Joshua refused to feed threw bottle most nights. He stayed in the hospital for 2 weeks.
A week after he was born his doctor came to me with very important information. They told me my son is diagnose with Pallister-Killian Syndrome which is a rare condition. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Big words right? I know.
With his condition he will not be able to do a lot of things growing up including sitting, standing, walking and even talking.
The hospital wanted to keep him for which they said was because Joshua wasn't eating right but my issue was they didn't allow him to learn. He was tube fed threw his nose since he was born so when it came to eating with a bottle he refused because his stomach was already full. I had to fight with doctors to allow him to go 24hrs without his feeding tube so he can learn the feeling of hungry and would want to look for food. Sure enough less then 24hrs Joshua was bottle feeding as I new he would. Still after that they refused to release him from the hospital after they explained to me that was the only reason he was being held. Another week passed and i couldn't take it anymore and got his hospital transferred for a second opinion.
Joshua failed every hearing test he ever got and doctors told me he would need a hearing aid. But i thought they were wrong about almost everything they said. I feel as if because my son has PKS and its so rare there is not much known about this syndrome that any little thing he had they would blame it on his syndrome. To me i find it unfair that instead of being treated like any child in this world they choose to treat him as if he was different and they had no answer to anything of my questions besides "its because of his syndrome".
My son Joshua is now 2 years old weighting 34lb nice and healthy.
He is currently In medical daycare 5 days a week receiving PT,OT, and speech therapy. Also works with
early intervention 1 a week since he was 3 months. Right now my son is anywhere between 9-12 month level as far as his gross motor skills.
As Joshua gets older things become more difficult. Because he is not able to sit on his own, walk, talk, crawl he depends on help from me.
I don't always speak about his syndrome because to me he is just as normal as any other child. As he gets older and bigger it's gets so much harder to deal with. I live on the 3rd floor of an apartment building with my 2 kids. There are no ramps or eleavators in my building. Bringing Joshua up and down everyday has begun to give me lots of back pains because he is getting to heavy to carry. I have medical equipment that barely fits in my home and there is so much more I will be getting over the years. In the winter my house gets really cold it's almost like we're sitting outside, we can't use the heat we have because it's an eletric/gas fire place which is bad for my sons lung problems. So threw out the winter he becomes really sick in and out the hospital. I found out about this hospital called Children Hospital of Philadelphia that I been trying to bring my son because there is a doctor there that specializes in PKS. Unfortunately his insurance won't cover the cost of the visit and it's way more then I can afford.
Reaching out to people has been the hard I'm so use to keeping things to myself and saying I'm going to figure this out. But for once I'm asking for support. Every penny and resource counts thank you.
January 14, 2012 Joshua Logan Ortega was born 5lb 12 1/2 oz 17in long. As soon as he came out he was rushed away due to not breathing for 3 mins. After a couple of hours which felt like forever I finally got to see my son in the NICU. Doctors came to explain that Joshua came out with a high arched pallet with caused him to have difficulty feeding. They told me day after day that my son will need to be tube fed and as he grows it might be permanent. Joshua refused to feed threw bottle most nights. He stayed in the hospital for 2 weeks.
A week after he was born his doctor came to me with very important information. They told me my son is diagnose with Pallister-Killian Syndrome which is a rare condition. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Big words right? I know.
With his condition he will not be able to do a lot of things growing up including sitting, standing, walking and even talking.
The hospital wanted to keep him for which they said was because Joshua wasn't eating right but my issue was they didn't allow him to learn. He was tube fed threw his nose since he was born so when it came to eating with a bottle he refused because his stomach was already full. I had to fight with doctors to allow him to go 24hrs without his feeding tube so he can learn the feeling of hungry and would want to look for food. Sure enough less then 24hrs Joshua was bottle feeding as I new he would. Still after that they refused to release him from the hospital after they explained to me that was the only reason he was being held. Another week passed and i couldn't take it anymore and got his hospital transferred for a second opinion.
Joshua failed every hearing test he ever got and doctors told me he would need a hearing aid. But i thought they were wrong about almost everything they said. I feel as if because my son has PKS and its so rare there is not much known about this syndrome that any little thing he had they would blame it on his syndrome. To me i find it unfair that instead of being treated like any child in this world they choose to treat him as if he was different and they had no answer to anything of my questions besides "its because of his syndrome".
My son Joshua is now 2 years old weighting 34lb nice and healthy.
He is currently In medical daycare 5 days a week receiving PT,OT, and speech therapy. Also works with
early intervention 1 a week since he was 3 months. Right now my son is anywhere between 9-12 month level as far as his gross motor skills.
As Joshua gets older things become more difficult. Because he is not able to sit on his own, walk, talk, crawl he depends on help from me.
I don't always speak about his syndrome because to me he is just as normal as any other child. As he gets older and bigger it's gets so much harder to deal with. I live on the 3rd floor of an apartment building with my 2 kids. There are no ramps or eleavators in my building. Bringing Joshua up and down everyday has begun to give me lots of back pains because he is getting to heavy to carry. I have medical equipment that barely fits in my home and there is so much more I will be getting over the years. In the winter my house gets really cold it's almost like we're sitting outside, we can't use the heat we have because it's an eletric/gas fire place which is bad for my sons lung problems. So threw out the winter he becomes really sick in and out the hospital. I found out about this hospital called Children Hospital of Philadelphia that I been trying to bring my son because there is a doctor there that specializes in PKS. Unfortunately his insurance won't cover the cost of the visit and it's way more then I can afford.
Reaching out to people has been the hard I'm so use to keeping things to myself and saying I'm going to figure this out. But for once I'm asking for support. Every penny and resource counts thank you.
Organizer
Jazmin Ayala
Organizer
