Name | Mackenzie Bartkowiak |
---|---|
Gender | Female |
Diagnosis | 10q21-10q22 |
Parents | Brian and Nicloe Bartkowiak |
City | Milwaukee, WI, USA |
nicolebarkowiak [at] yahoo [dot] com |




February 18, 2011
A few months later she became very sick fevers for over 14 days in the 104's and nobody knew what was wrong. She was in the hospital again with test after test. All they knew was she had a infection...but where? Finally my husband was playing with her in a playroom at the hospital and out of nowhere came this mass in her neck. He called the nurse and she was taken down to have a CT immediately. She had a huge abscess in her neck that required surgery twice because it came back 2 weeks after she was discharged. Finally after the 2nd surgery she had a PICC line placed and we found out she was immune suppressed. The NP saw her in the outpatient clinic a few weeks later to follow up on her. She was the one who thought although she doesn't look really different she has a small nose, no real bridge, growth issues and missed milestones...we need a genetic work up.
6 long weeks later the test is back....i got a call from the NP from Immunology telling me that my daughter has a genetic disorder it's a duplication of her 10th Chromosome. She told me that she doesn't know much about it and the information she could find was limited but I should call genetics ASAP and get an apt so they can help us with this all.
Today Mackenzie is walking she walked at 14 months. Sat up at 6 1/2 months Rolled over at 9 months Pulled up at 13 months crawled at 12 months.
She gets sick easily and has already had a hospital stay this year. She is getting a lot of fevers lately indicating infection. She has problems with her hips. She goes to PT & Speech 4x/week and is slowly progressing.