The
last few months have been very eventful for our family. In December,
we welcomed baby girl Laney and she is doing very well. Noah adores
his little sister and his favorite thing to do is hold her. On the
other hand, Peter is less sure of the baby. The month following
Laney's arrival was especially challenging for Peter. He developed
intense separation anxiety and an extreme preference for Matt
following our brief (30 hour) hospital stay for the birth. This seems
to have finally calmed down for the most part, but it still pops up
on occasion. Petey has also been aggressive toward the baby a few
times, lashing out to scratch her or try to flip her bouncy seat with
her in it, so we have to be on high alert all the time. Whether this
is out of jealousy, malicious intent or just the result of a child
without impulse control who doesn't understand gentle touch is
unclear. But it is still a serious concern.
It
has also been frustrating when well-meaning people, either implicitly
or explicitly, refer to Laney as a blessing we've received because of
Petey. Make no mistake, Laney is a tremendous blessing to our family.
But we are uncomfortable with the idea that we were blessed with her
because of Petey, because that means Petey was the trial to be
endured in order to be blessed. Petey is our son--he is not a trial
or tribulation to be endured. Rather, he is a blessing in his own
right, and even if God did bless us with Laney because of our
faithfulness in following His call to adopt, we still do not want to
think about either of them that way.
The
other significant event recently was finally receiving the results of
extensive genetic testing for Peter after 4+ months of waiting.
Unfortunately, the results were devastating. Peter has Claes-Jensen
Syndrome (or medically speaking, X-Linked
Intellectual Disability, Syndromic, Claes-Jensen Type)
a
genetic defect/mutation of the KDM5C gene that is marked by, among
other things, severe intellectual disability (formerly known as
"mental retardation").
For context, and while there are many outliers on the spectrum,
Downs Syndrome is associated with "mild to moderate"
intellectual deficit. Claes-Jensen Syndrome also causes speech
impairment, problems with adaptive behavior and aggressive behavior,
microcephaly, awkward gait with slowly progressive spastic
paraplegia, seizures, and many more minor symptoms such as small
stature, high and narrow palate, etc. Given the hitch in Petey's
giddy-up, paraplegia is a very possible eventual outcome for him.
There are many non-specific symptoms Petey displays that in a vacuum
could have meant something or nothing, but looking at them through
the lens of Claes-Jensen leaves no doubt as to the accuracy of the
diagnosis.
We
have no concrete answers for Petey's progression or future because
this syndrome is so rarely diagnosed. While the gene mutation may not
be rare, the ability to test for it is new, so not many people have
been diagnosed as of yet. Previously, children with this condition
would just be classified as intellectually disabled. So, there is
little to study and little to compare. In fact, in the one study we
did find, citings were not for percentages of this particular
population, but for specific individuals. This is the first case
Petey's geneticist has ever had of Claes-Jensen Syndrome and we are
learning as we go, since Petey is a case study himself.
This
diagnosis is in many ways an end. An end to hope that Petey will ever
be independent in any way. An end to hope that he will progress
cognitively in any significant way, and maybe even the hope that he
will ever talk. But it is also a beginning. A beginning of reasonable
expectations for his future. A beginning of real plans to make sure
he will always be taken care of. We have also discovered reservoirs
of patience within ourselves that we never knew we had – patience
that only God could produce in us.
We've
shared before that life with Petey is difficult. There are really two
Peteys: Medicated and Unmedicated. Sweet Pete and the Tasmanian
devil. When Petey is medicated during the day, he is usually as sweet
and docile as can be. But when his meds wear off in the late
afternoon, watch out! It's sad, but so many days we find ourselves
just living for 6 pm so we can start his bedtime routine because
there are just so many things that are on hold until Petey is in bed.
While Petey
spends much of his time either in his own little world or rampaging,
he has rare moments of clarity when it seems his cloud of confusion
lifts and we see the real Petey that is lost in there due to the
ugliness of Claes-Jensen Syndrome and its effects on his mind. For
example, one morning recently, he sat on Allie's lap while she read
him “If You Give a Mouse a Cookie.” He was interested in the
pictures, turned all the pages when prompted, and even did the signs
for words and concepts he knows, like eat, drink and wash. Another
morning, he colored with Allie and scribbled with five different
color markers before losing focus, which is absolutely amazing
considering his minuscule attention span. And one morning this week,
he was watching Allie change Laney. She asked him to get an outfit
and he opened the correct drawer and brought pajamas. Then she asked
him to put the other outfit in the laundry basket in the closet. He
opened the closet door, placed the outfit in the basket, and closed
the door. While Petey's future looks grim (at five years of age, he
seems to have plateaued in the 18 months to 2 year range
developmentally), we remember the phrase “But God.” With God, all
things are possible.
There is
also one more end here: the end of this blog. It has been a great
means of sharing our journey with you and we hope we've been
transparent about the good and bad times. We will leave the blog up
in hopes that it may help others considering this journey, as many
other blogs helped us. But now that we have a diagnosis and a clearer
picture of the future, we feel that it is important to make this our
last post.
As
we said before, this news was devastating and we are grieving, and
the grief washes over us in waves after periods of peace. Thank
you for following our journey. Thank you for laughing, crying and
praying with us. We appreciate your prayers now more than ever.
Thank you,
Matt and
Allie