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This is Mackenzie's story,
Mackenzie was born April 23, 2015 at only 35 weeks.
I remember being on the operating table and watching doctors and nurses crowd about my new born daughter, it was loud and there was chaos but all was quiet in my head all I could think is why isn't she crying what is going on?!?!
Shortly after she was rushed to nicu to be put on a machine to help her breathe. She was only 35 weeks so we expected some minor complications. We spent 6 days in nicu before we were given the all clear to take our 4th and final child home.
As time went on we realized Mackenzie was not like other babies, she was sleeping 23 hours a day, wouldn't feed, her muscle tone was almost non existent we couldn't rid her jaundice and she began to lose weight. Upon taking her to the ER we were told something was wrong and they were transferring her to a children's hospital 2 hours away.
This was only the first of many hospital stays to come, it seemed every 2 months on the dot she was being admitted to the hospital for various infections in which they couldn't find the cause.
We eventually learnt after seeing doctors and specialists all over the states that Mackenzie has a rare genetic condition called Cantú syndrome, not only was she 1 in 50 with the condition but the variant found in her gene was the first reported in literature. This is a condition that effects the 12th chromosome and allows the potassium channels to stay open when they should close before birth. This effects vital organs such as the heart, kidneys and causes an overgrowth of hair also called Hypertrichosis. She also tested positive for the BRCA-1 gene, this is the gene which makes her more susceptible to breast and ovarian cancer.
coincidentally she was also diagnosed with transaminitis, immune deficiency, anemia, mild liver damage, spastistic muscles and a congenital brain defect called dysgenisis of the corpus callosum. These are non-related to her condition.
Mackenzie see's a wide variety of doctor's including 13 specialists and multiple therapists.
As you can imagine because her condition is so rare it's almost unheard of to most doctors.
Because of the uncertainty of what tomorrow could bring we take things day by day and today our goal is to continue to spread her story and find everyone we can that could possibly help her. Please feel free to share and continue sending prayers as they are more then appreciated Thank you.
If you don't already please keep up with Mackenzie's page on social media!
https://m.facebook.com/keepingupwithmackenzie/
Mackenzie was born April 23, 2015 at only 35 weeks.
I remember being on the operating table and watching doctors and nurses crowd about my new born daughter, it was loud and there was chaos but all was quiet in my head all I could think is why isn't she crying what is going on?!?!
Shortly after she was rushed to nicu to be put on a machine to help her breathe. She was only 35 weeks so we expected some minor complications. We spent 6 days in nicu before we were given the all clear to take our 4th and final child home.
As time went on we realized Mackenzie was not like other babies, she was sleeping 23 hours a day, wouldn't feed, her muscle tone was almost non existent we couldn't rid her jaundice and she began to lose weight. Upon taking her to the ER we were told something was wrong and they were transferring her to a children's hospital 2 hours away.
This was only the first of many hospital stays to come, it seemed every 2 months on the dot she was being admitted to the hospital for various infections in which they couldn't find the cause.
We eventually learnt after seeing doctors and specialists all over the states that Mackenzie has a rare genetic condition called Cantú syndrome, not only was she 1 in 50 with the condition but the variant found in her gene was the first reported in literature. This is a condition that effects the 12th chromosome and allows the potassium channels to stay open when they should close before birth. This effects vital organs such as the heart, kidneys and causes an overgrowth of hair also called Hypertrichosis. She also tested positive for the BRCA-1 gene, this is the gene which makes her more susceptible to breast and ovarian cancer.
coincidentally she was also diagnosed with transaminitis, immune deficiency, anemia, mild liver damage, spastistic muscles and a congenital brain defect called dysgenisis of the corpus callosum. These are non-related to her condition.
Mackenzie see's a wide variety of doctor's including 13 specialists and multiple therapists.
As you can imagine because her condition is so rare it's almost unheard of to most doctors.
Because of the uncertainty of what tomorrow could bring we take things day by day and today our goal is to continue to spread her story and find everyone we can that could possibly help her. Please feel free to share and continue sending prayers as they are more then appreciated Thank you.
If you don't already please keep up with Mackenzie's page on social media!
https://m.facebook.com/keepingupwithmackenzie/