Name Mackenzie Bartkowiak
Gender Female
Diagnosis 10q21-10q22
Parents Brian and Nicloe Bartkowiak
City Milwaukee, WI, USA
Email nicolebarkowiak [at] yahoo [dot] com
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February 18, 2011
Mackenzie was born in June of 2009 and she appeared healthy.She weighed 6lbs 5oz. and was 19in. We lived normal lives up until she was 6 months old. She did however miss milestones of rolling at this point. She started losing weight drastically at 6 months of age. She was watched and seen by a GI team and finally admitted to the hospital to place a feeding tube when she had lost to much weight. ( 8 months old she weighed 11lbs) She was also put on PT at this time to help her with her lack of muscle tone and get "up to speed" with milestones. During her hospital stay they ran CT's, MRI of her brain. and TONS of blood work. All of which was abnormal at the time but we were no closer to a dx. of what was going on.

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.