Chalupa Family
I am the oldest of five children. My only brother is seven years younger than me, with three sisters between us. In the early years Charles was diagnosed with Cerebral Palsy. He was born in December of 1960 and currently lives at home with my sisters being his primary caregivers. Charles is pretty much confined to bed these days because of his scoliosis, but he is able to sit for short periods of time in a reclined position. Charles is also able to hold a conversation, however, his speech is very slow and drawn out as it is with many of the PMD guys. Charles can feed himself finger foods or sandwiches. He is also able to manage a urinal independently. His mental abilities are difficult to test due to visual and motor involvement and communication barrier, but he is a very content person day and night.
I was the first to have children. Melissa (my daughter) was the first. After that my sisters had four children (all girls) among them, JR was born in June 1980. Every one was so excited. I took home what I thought was a healthy bouncing baby boy. Life was Great!
One day while visiting my mother she commented that JR's eyes were doing the same thing that my brother's did when when he was little. JR was less than two weeks old. I blew her off. -- Nothing was wrong with my baby!
But as time passed it was more obvious that JR was not achieving milestones at the same pace Melissa had. So he went for a formal evaluation. At nine months old JR was admitted to Kennedy Institute for a three day evaluation that turned into three weeks. After all kinds of testing JR was tentatively diagnosed with PMD.
Wanting to know all I could, I read everything. But I could only get 3/4 of a page of information on PMD, and even that was not completely accurate. JR had a chromosome study done in February of 1982 which showed no abnormalities. Diagnosing PMD has gotten easier with MRI, FISH, and the like. Our duplication was found late 1997 to early 1998. When a disease affects someone you love, research cannot move fast enough. But just stop and think where we are today and the strides that have been made...
I am the oldest of five children. My only brother is seven years younger than me, with three sisters between us. In the early years Charles was diagnosed with Cerebral Palsy. He was born in December of 1960 and currently lives at home with my sisters being his primary caregivers. Charles is pretty much confined to bed these days because of his scoliosis, but he is able to sit for short periods of time in a reclined position. Charles is also able to hold a conversation, however, his speech is very slow and drawn out as it is with many of the PMD guys. Charles can feed himself finger foods or sandwiches. He is also able to manage a urinal independently. His mental abilities are difficult to test due to visual and motor involvement and communication barrier, but he is a very content person day and night.
I was the first to have children. Melissa (my daughter) was the first. After that my sisters had four children (all girls) among them, JR was born in June 1980. Every one was so excited. I took home what I thought was a healthy bouncing baby boy. Life was Great!
One day while visiting my mother she commented that JR's eyes were doing the same thing that my brother's did when when he was little. JR was less than two weeks old. I blew her off. -- Nothing was wrong with my baby!
But as time passed it was more obvious that JR was not achieving milestones at the same pace Melissa had. So he went for a formal evaluation. At nine months old JR was admitted to Kennedy Institute for a three day evaluation that turned into three weeks. After all kinds of testing JR was tentatively diagnosed with PMD.
Wanting to know all I could, I read everything. But I could only get 3/4 of a page of information on PMD, and even that was not completely accurate. JR had a chromosome study done in February of 1982 which showed no abnormalities. Diagnosing PMD has gotten easier with MRI, FISH, and the like. Our duplication was found late 1997 to early 1998. When a disease affects someone you love, research cannot move fast enough. But just stop and think where we are today and the strides that have been made...
JR is a very active young man. He had a spinal fusion in May 1996. Since that time he gets uncomfortable sitting for long periods, and requires frequent positioning changes. JR is unable to walk or sit independently but he can weight bear to assist in transferring. JR uses a power chair for mobility outside the home but when at home he prefers to combat crawl. JR is verbal but his speech is very slow and drawn out. He doesn't do well with blends (ie: shop becomes hop). He also uses hand gestures to help get his point across. JR eats anything but prefers softer foods that don't require as much chewing, fatigue is a factor. That seems a little funny because it seems like he talks non-stop... JR finger feeds but if utensils are needed he must be fed. He uses a straw to drink. After a swallow study in July 2000 we learned that he aspirates thin liquids. As a result his drinks need to be thickened to a honey consistency. JR is independent with most of his entertainment activities TV - Nintendo - Walkman - and some other hand held games. JR's visual acuity is 400/20 and is legally blind, but don't let that fool you, he can see! JR has nystagmus we don't notice it much anymore but the ophthalmologist can make it become more obvious during his exam. JR has optic nerve pallor which and some doctors refer to it as optic nerve atrophy. JR's legs are very spastic. He has difficulty flexing his hips to sit but once he is seated hip flexion isn't a problem. He takes Tegretol (or Carbamazepin) to help with spasticity.
MYL, born in August 1995, has lived with us since he was six weeks old. He is my niece's son and soon after he came to live with us he was also diagnosed with PMD. JR calls him his "busin" meaning that he is more like his brother than his cousin. MYL seems to be more affected than the other guys in my family. He has sleep apnea and is on a pulse-ox monitor at night. He had stridor when he was much younger and sounded like he was snoring most of the time even when he was awake. I have to use suction at times (more during the winter) to help him clear the mucus. MYL had a g-tube placed in December 2004 due to vomiting issues. He will occasionally take bites of food, but he is predominately tube fed. MYL takes Depakene (or Valproic Acid) for cyclic vomiting. He was mobile in his younger years on the floor, in his own interesting way. While on his back using extension and tone, he sort of wormed and wiggled like a sidewinder snake. MYL is very attached to me and doesn't enjoy venturing far from home, so we deal with some anxiety issues with him. MYL makes three generations in my family diagnosed with PMD.
I have tried to give a fair idea of what the guys in my family are like. It is hard to compare them because the age difference is so great. Even though they are alike, they are also so different.
Anita
Anita has a Facebook page and welcomes you to message her. To learn more about her family and reach out to an amazing PMD family click here.
I have tried to give a fair idea of what the guys in my family are like. It is hard to compare them because the age difference is so great. Even though they are alike, they are also so different.
Anita
Anita has a Facebook page and welcomes you to message her. To learn more about her family and reach out to an amazing PMD family click here.
