Addy – Jacobsen Syndrome

My granddaughter Addy has Jacobsen Syndrome, a rare genetic chromosomal disorder. Without getting too clinical, chromosome 11q has a deletion, resulting in severe developmental, physical and mental  delays.  Tomorrow Addy turns 3 years old, she is a miracle, and I have no idea what life would be like without her in our family.

Through the whole pregnancy my daughter was telling the doctors something was wrong, she had morning sickness the entire 9 months.  At the final doctor’s appointment an ultrasound was done to look at the baby’s heart, the ultrasound results showed normal.  The cesarean was scheduled, and when Addy was born she was full term and only 4 pounds 11 ounces, struggling to breath.

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After Addy had spent 2 days in the nursery on oxygen with no diagnosis,  my daughter demanded the hospital transfer her baby to a hospital with a specialized NICU.  Within 1 hour upon arrival at the specialized hospital,  it was determined Addy needed to be transferred to U of M for open heart surgery or,  she was not going to survive. Additionally, the new hospital thought Addy may have a chromosome disorder.

In one moment everything in our family changed.  We packed our bags and headed down to U of M hospital, slept in couches and chairs,  Addy underwent open heart surgery at 4 pounds 11 ounces.  She was in the NICU for 6 weeks.  On Christmas eve of 2014 they lost Addy 2 times, she coded, and she survived.  My daughter asked them to not resuscitate, please let her baby go, she has suffered enough.  We all prayed that night, separately, later we all talked and found out we prayed the same prayer. “God, please God take me, she is so little, please take me and not her…”.

Addy pulled through that night, on Christmas morning her vital signs improved. Within weeks Addy was being moved to step down units within the hospital.

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It was in the step down unit where the genetics doctors approached my daughter with the results of the chromosome testing.  Jacobsen Syndrome.  They told us do not google it!  Right!  The first thing we do is google it, find out her life expectancy may be 2 years old,  her platelets being low is caused by her disorder,  she could potentially bleed out anytime she gets a small cut.   Then we kept wondering about her eyes, why she could not focus, she is blind. Those who do survive the heart defects and bleeding are severely autistic and could struggle to ever walk or talk.

Tomorrow Addy turns 3 years old!  She will be starting school in January at a specialized facility.  Our lives are so full because of this little girl, she has the BIGGEST heart!  And even though we know God hasn’t promised us a lifetime with Addy,  we know today is promised.

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