Julien has come as a mature child by Cesarean section on 21/07/2011. He had an Apgar of 10/10/10. During pregnancy, heart sounds were on at the lower limit, but the doctors found no other abnormalities.
Julien drank from the beginning very bad. His iron value was conspicuously low. Therefore, he had to stay in the children’s hospital longer than expected for several days.
After about 10 weeks he was admitted to the hospital for a blood transfusion because the iron value despite substitution was still very low. It has also had massive problems with the diet. Julien drank still very little and it was difficult for him to put on weight. He cried constantly and was unable to calm down by anything I tried to comfort him.
On examination for blood transfusion abnormal heart sounds were detected. Then we went to the clinic and an ultrasound diagnosed 3 heart failure (pers. Foramen ovale, pers. Ductus arteriosus with hemodynamic relevance and a muscular ventricular septal defect). His Pediatric cardiologists told us we should wait until Julien is a year old and then the duct should be closed naturally.
But Julien’s condition deteriorated faster than expected, so he was operated in the ages of four months in November 2011. I have never been so scared.
Everyone thought that Julien would recover quickly after surgery and many would catch up, because it was already apparent that he developed different from his peers. Unfortunately, this was not the case! It was (and still is!) a problem to feed him. He could not suck properly, he lacked the force.
After the operation there was no change in his delayed development. In October 2012 Julien was finally transferred to our urgent request to a pediatric center. The doctors there had immediately suspected a genetic defect. We were first confronted by 15 months so that our child probably has a disability!
Then, genetic studies have been initiated and 9 months later PACS1 was diagnosed.
Julien has hypotonic both sides of a Simian crease, heart failure already mentioned, low-set ears, “finger pads”, fascial dysmorphism and is hypotonic. Moreover it with him on a slightly elevated CK value and a slight lack of immunoglobulins.
In July 2013 Julien human geneticists was introduced, who wanted to publish PACS1 (he was previously diagnosed with PACS1 child as 3rd world, from the girls diagnosed before him knew the human geneticists still nothing).
Now to the development of Julien:
Since about 12 weeks, he begins to run free! We are very pleased !! He speaks the words mom, grandma, yes, no, there, Anna, car, hello and “babbling” a bit. He understands some may point to demand many things.
He receives speech therapy and once a week physiotherapy. Since August 2013 he visited from 8 am to 2 pm a kindergarten as a “integration-child”.
His food behavior is very noticeable. He eats alone rarely a little. In kindergarten he sits at the table and looking the other while eating. We think he has a troubled feeling of hunger. We always have to distract him and then try to feed, so he eats anything.
Unfortunately, he drinks too little. We had multiple health problems therefore. Julien dehydrated very quickly and had to be supplied in Krankenaus with infusions several times.
Loud noises and height make him afraid. Also on balloons and elevators he is afraid. Cars he loved more than anything! He is extremely sensitive, cries, if another cry, etc. But mostly he is a very happy child.
As an aid we have orthoses, a nursing bed and a walker. Julien takes Movicol every day, which he receives in his porridge in the morning stirred into it. Unfortunately, he refuses to take this more often and get instant constipation that we have to fight.
We are very glad that we can have on Facebook Connect with other parents with PACS1. It’s incredibly important for us to see how these children can develop! We benefit greatly from the exchange with each other.
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