MOSAIC MOMENTS

On Monday I shared a wonderful video of the remarkable story of young Joe. I have had the opportunity to talk more with Joe’s mom Sharon and I wanted to share more about their life.  

Joe’s mom (Sharon Just) and dad (Jim Anderson) met at Georgia Tech as undergraduates.  Sharon was former Student Body President of Georgia Tech, and Jim was editor of the GT student newspaper (the Technique).  Although married for many years, they waited to start a family until after their careers were established.  Sharon is a civil/environmental engineer.  She worked for a large company for 11 years, before leaving to start her own engineering consulting firm in 2001, where she continues to work (Just Engineering & Associates, Inc.).  Jim also worked in engineering consulting, before migrating to an internet career.  He was VP of Product Development with Earthlink, before leaving to join a start-up social media company (Vitrue), where he is currently Chief Product Officer.    Here is their mosaic story.

We have three children – Joe was our first born.  AFP screens early in the pregnancy were normal, showing a risk less than predicted based on age.  When 20 weeks pregnant with Joe, a routine ultrasound identified several potential “markers” of concern.  Including a “possible” heart defect – though Joe was turned in such a way during the scan that it was difficult to confirm.   The 20 week scan also identified “slightly” enlarged kidneys, though that was considered only a “soft” marker – not a definite issue – especially since Joe was a boy.  The OB strongly recommended an amnio, which we declined due to miscarriage risk.  At a follow-up ultrasound at 22 weeks, two heart defects were seen, as well as additional issues with Joe’s brain ventricles and limb ratios.  The OB strongly recommended an amnio again, “to have info” due to the number of defects.  Preliminary amnio results came back the next day, based on Fluorescence in situ hybridization (FISH) tests.  FISH only screens for chromosomes 13, 18, 21, X, and Y, and the results confirmed Down syndrome (Trisomy 21).  Full amnio results came back about 10 days later – 24 weeks into the pregnancy.  The results “floored” our doctor – Joe had mosaic Down Syndrome and Tetrasomy 8p, a never-before-reported combination.  The OB asked if we wanted to continue the pregnancy.  We said yes.  The OB recommended immediate (next day) consultation with a geneticist. 

In retrospect, the hurry to schedule the geneticist appointment was because they expected the consultation to impact our decision.  We met with the geneticist, and he explained issues typically associated with Down syndrome.  He then outlined the small amount of literature available on Tetrasomy 8p:  “high likelihood of cerebral ventriculomegaly, hypotonia, mental retardation, craniofacial abnormalities, congenital heart disease, postnatal growth delay, and a variety of other features.”  Or, in plain English, muscle, heart, brain, and facial impacts.  The geneticist indicated “the outlook for children with Down syndrome is brighter than it has ever been before,” but also noted due to the tetrasomy 8p “there is little information upon which to base the long-term prognosis”, and the child was “likely to have more severe problems due to the two abnormalities.”  Two days later, the OB called the house to ask if we were “sure” about continuing the pregnancy because “we could still come in today” in case our decision had changed.  We assured her it had not.

Joe’s amnio showed 25% of his cells had an extra Chromosome 8 (Tetrasomy 8p), and 75% had an extra Chromosome 21 (Trisomy 21 or Down syndrome). None of the cells were normal, but none had both 8 and 21 problems.  Meaning, Joe likely formed normally, but had two separate and distinct problems/events occur during his very first division of cells.  Peripheral blood samples after Joe was born confirmed 28% Tetrasomy 8p and 72% Trisomy 21, very similar to the amnio.  No one could tell us what to expect with Joe – although doctors universally predicted “worse” issues due to having two genetic conditions.   At 24 weeks, we were told there was a significant chance he could miscarry in the third trimester, since “impacts to the larger chromosomes are often not survived”.    

Flash forward to delivery day – Joe was induced.  There were 10 to 15 hospital staff in the delivery room (we lost count!).  During the first day or two after birth, every specialist brought more bad news:  “His heart condition is worse than expected – he’ll likely need surgery in the next few weeks – like stitching butterfly wings.”  “50% chance of surviving the first month.”  “He’s missing part of his brain where visual interpretation occurs; therefore, even though his eyes and retinas work, he may be cortically blind and not see.”  “He tested deaf.”  “He has agenesis of his corpus callosum, which means he is missing the part of the brain that connects the left and right halves.”  “Due to the missing brain matter plus the two genetic conditions, expect significant delay - he may not do much ever.”

 And the kicker – as we interviewed pediatricians: “Joe scares me – I would not want to take him on as a patient because I’m a single practitioner” (at least he got good marks for honesty!). 

What is our reality now (at age 5)?  Joe’s heart surgery was able to be delayed until after age 1, once he gained weight.  One of the holes in his heart closed on its own; the other was fixed during the surgery.  Joe can see – he wears a normal pair of glasses.  He is not deaf.  His failed newborn hearing test was due to the test equipment not fitting his small ear canals.  He passed his follow-up hearing screen as an infant.  Although Joe now wears hearing aids for mild & moderate hearing loss; his hearing loss may have been caused by other issues (not genetic) – but instead related to ear infections.   Ear infections can cause hearing loss.  Ear tubes drain fluid out – preventing damage. 

Here’s a tip:  If you are selecting an ENT for a child with a complicated medical history, make sure they have surgical rights at a children’s hospital.  When Joe’s first ENT recommended putting in ear tubes, he said they could just do it in his day clinic.  But, we weren’t going to put Joe under anesthesia anyplace other than a hospital – not with two genetic conditions and a repaired heart.  The wait time for a “new patient” appointment with an ENT with surgical rights can take months – especially in the middle of cold/flu season.   Pick your first ENT assuming you’ll eventually need tube surgery!  Joe’s hearing loss was not diagnosed until age 4, and we do not know when he developed the loss.  Hearing losses impact speech development.  Joe has recently begun to babble some meaningful sounds (wawa, ba, mama, etc.), and it remains to be seen what he is capable of in speech.  And,  yes, Joe has a pediatrician – one who’s not scared of him.

Other milestones:  Joe took his first independent steps in his walker (him pushing it) when he turned 5.  Eight months later, he walked a 0.5 mile long Down Syndrome Buddy Walk on a city street.  He is now learning to walk holding on with one hand, and we expect he will eventually graduate from his walker.  He likes to go downhill – he laughs when he’s going fast.  He learned to eat at age 5 at the Marcus Institute in Atlanta – using applied behavior approaches.  Joe likes to play.  He has a sense of humor.  If you turn your back on him or leave the room, he will go hide his hearing aids:  Down the HVAC vent grate.  In his bucket of blocks (the brown color conceals them).  Hanging on his bead wire track (where, at first glance, they look like another bead).  Tucked in his shirt.  In his sister’s play kitchen oven.  In the garbage can.  Inside a purse placed inside a dresser drawer.  Etc.  And – he’ll laugh when you come back in looking for them. 

We still don’t know what the future holds for Joe – but then again - we could say the same for his sister and brother!

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