The Real Update Part 2- The Phone Call and Initial Diagnosis

On Monday, March 28^th, 2016 I received a phone call that would potentially change my life forever.  We had been waiting almost four weeks to hear the results from Lucy’s chromosome micro array genetic testing.  The woman on the phone asked for the parent of Lucy Lewis and I knew right then that this was the call I waited for anxiously.  Luckily Ben was working from home that morning so I ran up to his office and put the phone on speaker so we could both hear.  I don’t remember many details but I think she introduced herself as a Janice the genetic counselor from the University of Utah.  She then proceeded to say that Lucy’s test results came back in and that they had a diagnosis for us, 12p trisomy.  I squeezed Ben’s leg and my heart sank.  She went on to explain that it is an extremely rare chromosome abnormality, 1 in 50,000 births.  She said Lucy had trisomy 12p "T12P" meaning she has an extra chromosome on her 12^th chromosome, on the short arm, p.  Ben quickly googled the term and we searched the internet as Janice explained some potential outcomes with us.  She mentioned that it is associated with gross motor and intense speech delays with the possibility of eye muscles being hindered and hearing.  We were still waiting to retest Lucy’s left ear after having an ear infection for the few weeks.  After hanging up with Janice I just knelt on the floor sobbing in Ben’s lap, so devastated with the news.  We spoke together for a few minutes and then called my mom to tell her the news, followed by Ben’s mom. 

We tried moving on with our day but it was difficult to hold the emotions in and stay levelheaded.  Ben found a website that had contact information of a woman on the east coast.  I emailed her and got a response back within an hour. She directed me to a few Facebook pages of support groups where I requested to join right away.  I emailed them a few times and then I was accepted to the T12p groups and began looking for other kids with T12p that were similar to Lucy.  The more I looked at the kids in the group, the more worried I became.  The first mom I spoke to said her son never walked. 

It was literally a dark, rainy Monday and I felt confused and full of anxiety inside.  That night I randomly had a girl’s night planned with three London study abroad friends.  It was really nice getting out that night and getting a good laugh in.  My dad called when I was on my way out and spoke for a few minutes about Lucy.  Every time I hear family’s positive encouragement I got teary eyed.   

The next few days composed of a lot of searching the internet and messaging T12p moms.  I even completely forgot to go visiting teaching at my neighbor’s despite reminding her late the night before.  Every other hour I would debate with myself if Lucy really would be that different and have learning disabilities.  All the research and other cases show that is the outcome, but Lucy seemed so perfect to me.  She didn’t seem that far behind and she was taking a few steps here and there!  The whole situation seemed to confuse me. 

I called back the genetic counselor, Janice, a few days later to go over a few details again.  She clarified that the genetics report found Lucy had isolated 12p trisomy and not mosaic.  In all of the cells they tested in her cheek, she had the extra chromosome on the short arm of number 12.  I continued to ask her how Lucy doesn’t have mosaic when it seems the children with it are less affected as regular t12p.  She clarified that Lucy doesn’t have an unbalanced translocation of the extra 12p chromosome.  Possibly some of the other kids with t12p have a translocation meaning it attached somewhere else.  I also learned about another change on the x chromosome on her p, short arm, but the findings of that are inconclusive.   She told me to ask my insurance if Lucy qualifies for any services such as private speech, occupational, and physical therapists.  She mentioned that some people qualify for Medicaid disabililty and social security that my insurance might not cover. 

The symbolism of her diagnosis could not have been better.  The phone call with her diagnosis came the day after Easter Sunday.  I can’t think of a more fitting time to remember how lucky we are to have the knowledge of our Savior and that he was resurrected that we all may be and to become perfect someday.  Down syndrome awareness day was also a few days before the diagnosis phone call.  It is the most similar to T12p and I had been thinking about Lucy’s possible outcome the whole week before that she might have Down Syndrome, like her pediatrician suggested.  

The entire week was all a blur and I continued to have random sporadic sadness and crying.  Almost every night before bed I would cry about Lucy and what I wanted for her in life.  I really appreciated family members reaching out and sending their love and support.  That weekend was General Conference, for our church (where we receive guidance and talks from Church leaders about gospel living).  I looked forward to God’s messages for me through his apostles and called leaders.  On Saturday I had a hard time picking out messages that felt right for me or remembering specific feelings.  For Sunday’s session I wrote down notes and found that extremely beneficial to recall what the spirit spoke to me.  God didn’t come out and say, Paige, everything is going to be alright, although I may have wanted him to.  One speaker, Bonnie Oscarson, spoke about the gospel being more than just words, and asked “do you believe it, that families are forever?”  Waddell said “We will always have sorrow, but we have been promised peace in Christ, but the peace requires action”.  Uchtdorf said “However broken our heart may be, he can rebuild it… draw near to him to show that you want to be rescued.”  Paul V. Johnson spoke about his daughter that died of cancer and how Easter is his favorite reminder of how *Lucy will have a perfect body when we are resurrected.  “Jesus has already cured ___ *Lucy’s T12P through the resurrection.  He cures our heartache with hope.”  Elder Oaks gave a quote from, President Thomas S. Monson explained:  “Some of you may at times have cried out in your suffering, wondering why our Heavenly Father would allow you to go through whatever trials you are facing. … “Our mortal life, however, was never meant to be easy or consistently pleasant. Our Heavenly Father … knows that we learn and grow and become refined through hard challenges, heartbreaking sorrows, and difficult choices. These and other trials present us with the real test of our ability to endure.”

These messages were just what I needed to pull me out of my “funk” and remind me of the purpose of life and that I am so blessed to have the knowledge of God’s plan for us eternally.  Today is Wednesday (many months ago) and I haven’t cried about Lucy in three days! I’m excited to be Lucy’s champion and be the best mom that she can have.  She is the brightest piece of pure joy and I am so lucky to call her my daughter.  So you better watch out trisomy 12p, you don’t know who you messed with, I’m going to come fight back!!

 4/23/16

In the last few weeks there have been ups and downs as we shared Lucy’s diagnosis with family and a few friends.  Almost every time I would bring it up to somebody or receive a response back in an email, text or phone call, I would cry. A few times I held strong and didn’t lose it but it almost felt worse that way.  Some of my first thoughts after receiving the news were: why wasn’t she diagnosed earlier and how do I deal with such a rare “syndrome”.  Since then I’ve decided that it was a blessing for me to not have Lucy diagnosed until 14 months.  I got to have a “perfectly normal” baby for a whole year without worrying about missing milestones, her future life, being different, or changing our lives completely.  In some ways I would have liked to have known earlier, but I am grateful for that year of time with our utterly “perfect” Lucy.  Now I don’t feel like she is broken and I don’t love her any less, of course.  But now we have appointments weekly, exercises, concerns and that underlying question of what will she really be able to accomplish in this life.  I am excited and glad that Lucy chose me to help her through this journey and am ready and willing to take it on full speed ahead.  As I mentioned, in the first few days I was frustrated with the diagnosis of 12p trisomy.  At first I wished it was down syndrome.  I wished it was something I could look up and get an idea of where she might be in a few years.  Yes, there was information on T12p on the internet but all 50 cases were so extreme, all across the board, and didn’t seem to fit Lucy’s current status.  Ultimately I have decided that I am grateful for the 1 in 50,000 chance that I got to be Lucy’s mother.  Although it is difficult to know what her future holds, it is actually a blessing that we get to discover that together and work through our struggles as a “team”.  Another T12p mom gave me the idea of making a spreadsheet of daily activities to perform with Lucy in speech, physical and occupational therapy.  Often Ben comes home from work and asks what exercises he can work on with Lucy and takes her for more one-on-one time.  Lucy has been making great improvements and continues to be a complete joy and blessing in our lives.