One Chapter Closes : The Diagnosis

The road has been long and filled with twists and turns, but today we reached a milestone.  Since last year, our minds have swirled with questions, doubts and fears about what may have been affecting Will's growth, mainly in his chest.  Today at 9 AM, we got our answer.

The faxed results were photocopied and placed in our hands.  The biology lesson began and soon we found the air filled with words and exchanges about compound heterozygous missense alterations, our pedigree, and dominant and recessive inheritance models.  It was enough to make my already queasy belly even more nauseous.  The words were big and, frankly, exhausting, but the short version was simple.  Will does indeed have Asphyxiating Thoracic Dystrophy 3, also known as Jeune Syndrome.  If you click on that link, you can learn more about it, but the short version is that people with this syndrome typically have small chests.  The reason it's called asphyxiating is because often people with this condition have such small chests that it makes it difficult to breathe.  This is the biggest concern, but there are other potential side effects, too, like kidney issues, that can negatively impact the body.

Will's specific condition occurred because he inherited a gene alteration from me + he had another spontaneous alteration that occurred during cell division.  So, yep, I'm a carrier.  Basically, he has one gene in his body, the DYNC2H1 gene, that is a bit funky.  That one gene has two alterations on it.  One is from me and is a new alteration for Jeune Syndrome (meaning, Will has the first known type).  The second alteration on the gene is a new mosaic mutation.  Mosaic is the key word there.  One way to think of a mosaic mutation is by thinking of tiles on the floor.  If you think of Will's cells as being a bunch of tiles on the floor, typically all of the tiles would be the same.  BUT with a mosaic floor, some of the tiles are different.  In Will's case, 37% of his tiles (cells) have a mutation that is linked to Jeune Syndrome (another new type as well).  This mosaicism is what likely makes Will's clinical presentation of Jeune's rather mild.  If 100% of his cells were affected by both alterations of the gene, we likely would have had a very different outcome.  Thankfully, though, some of his cells are okay and this is what has made him do well in comparison.  The interesting part of the 37% is that it totally matters where those cells reside.  When Will's mutation occurred during cell division, these altered cells went into making his body parts.  What we don't know is where they went!?!?  If they went towards building a major organ, then we may have some issues down the road. Enough of all that stuff, though, it makes my head hurt.

So, what does the diagnosis mean?  We are going to be extra, extra careful with him and try to give his lungs all the protection we can.  It would be very, very bad for him to get a respiratory illness.  This means, we will be very cautious in determining who handles him, whether they have had all their vaccinations, etc.  What's important to us is finding a balance between giving Will a normal life and, yet, giving him extra buffer from catching lots of illnesses.

We will also see a pulmonologist soon and have already scheduled our next visit with the genetics team.  We are going to do routine ultrasounds of Will's kidneys and liver to make sure they're functioning well.  We will also continue to monitor his chest size and breathing.  The crazy part is that there isn't a whole lot we can do on a day-to-day basis other than just trying to keep him healthy.  He is a little small on the growth charts, but initial indications are that Will won't fit the typical profile of a little person.  He's average in his height right now and his long bones don't appear super short, so we will just have to see how he continues growing.  If there's one thing to pray for, though, it is that his chest continues to grow large enough to support his lungs and that he doesn't have any renal complications.

Now for the introspective part for me.  I walked into today's meeting desiring closure.  I wanted to end the speculation and what ifs about his diagnosis and we accomplished that.  I also wanted some assurances.  I wanted the doctor to be able to tell me that everything was going to be okay.  Unfortunately, that's just not possible.  We don't know what Will's "outcome" will be, so we have to just focus on each day that lies ahead.  In some ways, we didn't get closure at all because now we can forever be caught in the land of uncertainty about Will's future.  BUT HERE'S THE THING, aren't we all kind of stuck in that land anyway?  I could walk out into the backyard, slip on a pile of dog poo, land just right and magically find myself in the hospital.  ;)  We just don't know what the future holds for any of us.  So, as much as I wanted closure today and as much as I feel like we didn't really get it, I'm deciding that I'm going to allow myself to close this chapter with Will.  I am hereby declaring that I no longer need to dwell on those ultrasound pictures, I no longer need to wonder what's "wrong" with Will.  I'm opening up a new chapter today.  A chapter filled with optimism and carefree joy.  I am making the choice to let go of the agony of the unknown.  Will is here and he's doing well.  Our job is to do everything in our power to keep him on that path while giving him the absolute best life we can.  This means lots of cuddles, spoiling and kisses!  We will not know if this syndrome is going to shorten his life, but that shouldn't be what we're focused on anyway.  None of us are guaranteed tomorrow, so our mission will continue to be living each day to its fullest and cherishing each moment together.

A necklace I cherish that serves as a constant reminder
to live fully in each moment.  Thanks, Kelly!

As I tried to explain it to the doctor today, we have already experienced the full range of emotions about Will.  When I had last sat in her office, I was seven months pregnant with a baby they didn't think was going to live.  Today, I sat there with a smiling five month old and we have every reason in the world to rejoice in that!!!

So, that's the end of the journey of the uncertain diagnosis.  Please just pray that Will's chest grows to accommodate his lungs and that his renal system doesn't develop any complications.  I'm emotionally and mentally exhausted, so that's it for today.  No more biology lessons or talk of genes.  I'm off to figure out a creative way to showcase Will's amazing exome sequencing...surely I can turn this into a craft project.  ;)

Source