Neverland Without a GPS

I haven’t named Caleb’s diagnosis specifically before because I’d like this forum to be a place where parents of kids with all different issues can assemble and know they are not alone.  ABC has forced me to go into more detail.

Caleb was diagnosed in 1996 at birth with DiGeorge Syndrome.  The syndrome was being studied by several physicians at the time, and the name has been in flux for years.  In the mid-1960s, Dr. Angelo DiGeorge of St. Christopher’s Hospital for Children in Philadelphia discovered the disorder characterized by a congenitally missing thymus (it’s a tiny organ of the immune system).  Dr. Robert Schprintzen of the Montefiore and Einstein Center in the Bronx, New York was studying in the craniofacial genetics program.  In 1978, Schprintzen wrote a paper about Velo (palate) Cardio (heart) Facial (facies) Syndrome.  In the 1980s and beyond, technology allowed for specific genetics testing to be performed to identify the chromosomal deletion which occurs near the middle of the 22^nd chromosome at q11.2.

Recently, the trend has been to lump all of the different names of this syndrome into one: 22q deletion syndrome.  It occurs in approximately one out of 3,000 – 4,000 live births.  According to the Children’s Hospital of Philadephia, 90% of the time, the deletion is random, meaning doctors can’t identify a single cause.  10% of the time, testing shows the deletion is inherited and other family members are at risk for passing the deletion on to their children.  In Caleb’s case, both his father and I tested negative.  If Caleb were to have a child, his child would have a 50% chance of inheriting the deletion.

If you research this disorder by any of the given names above, you will find that there are 188 possible conditions associated with it.  You will find ranges for intelligence, mobility, cardiac health, learning differences, immunologic function and other possible challenges.  Almost all affected individuals have at least a few of the challenges, but to my knowledge no one individual has had all 188.  Though there are specific facial characteristics that can identify a 22q patient it is not as familiar, as, perhaps, the Down Syndrome facial characteristics are, so these individuals are not as readily identifiable outside the medical community.  Some of us parents have gotten pretty good at recognition too.  Further, I’ve met many families whose children have this syndrome, and not one was even remotely like any other child, in any capacity.  The range of sub diagnoses in this syndrome is incredibly broad.

Which brings me to the mention of “Grey’s Anatomy.”  I don’t watch the show, but I remember in 2013, the main character, Meredith Grey, said to her colleague:

“I am at 28 weeks and I am worried about DiGeorge Syndrome.”

“DiGeorge?  That’s like, what, one in 100,000?  It’s too rare.”

How could they confuse one is 3,000 – 4,000 with one in 100,000?  It boggles my mind and is giving me a headache.

On the February 5, 2015 episode, “Grey’s” went at it again.  Two doctors are discussing a patient:

Doctor 1: “Mother’s pregnant for the third time, and each baby was stillborn.”

Doctor 2:  “Well, this one will be too.  22q Deletion?  She should adopt.”

As I said, I’m not a fan of this show so I don’t know what preceded this absurd statement.  The mom in me wants to know what doctor ordered the FISH test in utero, because it is not routinely performed.  The mom in me also wants to know why the show has bothered to mention this diagnosis twice, without doing adequate research or seeming to understand anything about it or that the clinical name has changed in the past two years.

As a parent, I would like to see information about 22q furthered so that Caleb would be easier to explain to others.  But that information needs to be correct and factual.

Being the parent of a disabled child is hard.  By the time our kids reach their late teens, we are battle scarred and have learned to badger and push our way through challenges to get our children what they need.  The two episodes of this show which have mentioned my son’s diagnosis were kicks in the teeth—the kind that leave jagged bits of tooth anchored in your mouth and blood running down your throat.  Using your child’s diagnosis as a worst-case scenario will do that to a parent.  I’m sure that “Grey’s Anatomy” is an equal opportunity offender and has used other diagnoses as fodder as well.  We should form a support group.

I want to be naïve and ask if everyone can please play nicely in the sandbox and not make fun of anyone.  I know this show wants to be titillating and I know we can’t censor television so that nothing unkind is ever said about anywhere, anytime.  I get that.  Still, I want to ask all television shows, commercials, books, newspapers, web sites and every person everywhere to, quoting Ellen DeGeneres here: “Be kind to one another.”  Oh, yeah, and do your research.

“Grey’s” could have used the actual information to further the awareness of the condition, allowing the actors to sound educated and providing a very intriguing plot.  For example, they could have found via ultrasound that the fetus had Tetralogy of Fallot (one hallmark cardiac condition of 22q) and had pediatric cardiovascular surgeons standing by at its birth to perform life-saving surgery.  They could have discussed the miracle that FISH testing is (I don’t fully get it but it employs fluorescent light to show the deletion).  They could have discussed the implications of a missing thymus and how to function best in a world where you can get the measles going to Disneyland.  They could have, gasp, employed an actual young adult with 22q who was just accepted to college (there are many) to come to the set and give encouragement to the mom whose fetus was just diagnosed.  They could have brought in a genetics specialist to actually explain the deletion.

Alas, “Grey’s Anatomy” did none of these things.  They did, however, do a grave disservice to all of the individuals out there who live with 22q Deletion Syndrome on a daily basis.  To say any child is better off stillborn than born with this syndrome is repulsive.  Even worse, it was a throw-away statement, in a clip that lasted less than 10 seconds.  Shame on ABC and shame on this show.

I have been moved to happy tears today as I see the Dempster Family Foundation page flooded with pictures of happy, loved, adored kids with 22q Deletion.  We parents know the truth.