Rare Disease Day

Today is "Rare Disease Day." I honestly didn't know there was such a day but it started showing up all over my facebook page so I thought I would use this as an oppurtunity to let everyone know about Kruz's genetic disorder.

We refer to Kruz's genetic condition as Jacobsen Syndrome, but in actuality it is a bit more complex than that. 

Jacobsen Syndrome is a loss or deletion of part of the long arm of the 11th human chromosome. It occurs in only 1 in 50,000 births.  The deletion causes quite an array of health and developmental problems, including heart defects, a bleeding disorder known as Paris Trousseau,  gastrointestinal abnormalities, kidney defects, eating difficulties, intellectual disability, and immunodeficiency. With the exception of immunodeficiency, so far Kruz has nailed everyone of these. 

People with JS are often short in stature and have skull and facial deformities.  The facial deformities can include wide set eyes, droopy eyelids, broad nasal bridge, V-shaped lips, small lower jaw and small low set ears that rotate backwards.  All of these perfectly describe Kruz.  He is tiny, so tiny, weighing only 22 lbs at 2 years, 8 months.  Kruz also has slightly deformed fingers, although I have never really seen documentation that this is typical of JS. 

People often ask me what the life expectantcy is for JS.  Honestly, sadly, since becoming aware of this disorder, I have known of many......too many.......little ones who have died.  It seems that the ones that I have known to die have been very young (under 2 yrs) and often due to heart conditions.  Otherwise, many live into adulthood. 

That's Jacobsen Syndrome in a nut shell.

But wait!! Kruz is even more interesting.  And more rare.

He also has an extra part or duplication on the short arm of his 9th chromosome, which is referred to as Partial Trisomy 9.  To my knowledge, there are only two other recorded cases of children with a combination of JS and Trisomy 9 in the world. How's that for RARE!!! There may, of course, be others and we just aren't aware of them.  One of the other children is in Austalia and the other is here in the US and ironically, is only a month younger than Kruz.

There is not a great deal of information about Trisomy 9 but what I have found is that it is not all that different from JS.  Common T9 features include growth deficiency, intellectual disablitiy, heart defects, abnormal skull and facial structure: including sloping forehead, short eyelid folds, large nose, and malformed ears.

So what does all this mean?  A whole lot and nothing at all.  It means that as we journey through life with Kruz we know very little of what to expect.  His genetic anomally is so rare that we have no idea what we can expect from him developmentally and intellectually. In his neurologists words, "he'll keep us guessing our whole life."   We can travel with some degree of knowledge as we educate ourselves on these two disorders but we take each moment as it comes, knowing that Kruz's road is unique and not well traveled.

We can follow other kids with JS.  We can follow other kids with T9.

 Put the two together and what do you get?

KRUZ

Neither Jacobsen Syndrome nor Trisomy 9 define Kruz.  They are not who he is.

Kruz is first and foremost a child. Our child.   He's a beautiful little boy with a radiant smile and a gentle spirit. He learns new things every day.  He brings joy, so very much joy to our home.  He's a little boy who just happens to have special chromosomes.   He's unique.  He's special.  Just like every other child that I have ever met.

God is good, all the time.

Closure

All the world is full of suffering, it is also full of overcoming.  --Helen Keller

Two weeks ago we met with Moise's eye doctor for his post op/talk about what comes next appointment.

  I had no idea what to expect from this appointment.  I knew that we had taken a risk going sans eye patch after the cataract surgery on the right eye.  I knew also that this appointment could very possibly send us on a journey of unknowns where the left eye was concerned.  My stomach clenched tight at the very idea of corneal transplant.

Much to my relief, the right eye looked better than we even dared to hope.  There was evidence of very minimal hemorrhage, but that was good considering there was no patch protecting it.  Moise cooperated beautifully (cooperation is rare at the eye doctor) giving the doctor a very clear view of that right eye.  While it is doubtful that there will be any vision gained from the surgery, we have confidence that there will be no further loss.  Because we don't want to miss even the slightest bit of vision that he may have, next week we will meet with a team of doctors who will work together to determine  what, if anything, he can see. From there, they will come up with a prescription that will give him the greatest level of vision enhancement. I'm excited about this.  Moise has a way of defying all the laws of medicine and I am holding onto hope for that eye.

My heart skipped a few beats as the doctor leaned back and said "Now, let's talk about the left eye." He told me that the eye is so "hazy and cloudy and messy"  that light cannot penetrate the lens. "Simply put," he said, "if I can't see in through the lens, Moise can't see out."  In other words, the left eye is nothing more than darkness. This wasn't exactly a surprise.  The only possible option for improvement would be a corneal transplant.  Doctor consulted with several doctors, including a transplant specialist, and the consensus is that "Moise is not a good transplant candidate."  He leaned close when he said "a corneal transplant is a long and very difficult process for a healthy 50 year old man who understands exactly what's going on. We just can't see how it would be possible for Moise." 

I knew this.  In my soul I knew that a transplant would not be a viable option for Moise.  Still, it took a few moments for my brain to process what he was saying.   Finally I asked, "So?? That's it?? It's done??  We do nothing more with that eye??"

"Correct,"  he said, "and if there is vision in the right eye, we make that work as much as it possibly can for him."

And you know what?  It's okay.  It's more than okay. It's closure.  It's freedom to accept what is, to step away from all the turmoil that this eye has caused and move forward.   For nearly two years we have fought for this eye and now it's done.  It's over.  We don't have to fight anymore. 

The truth is.........Moise accepted it long ago.  He has adapted to his vision loss. I am the one who has struggled and fought so hard against it.    Because I thought it would limit him even more.   Because it felt so incredibly unfair.  Because I didn't want to have to adapt to the changes.

Here's the thing about Moise.  He's resilient, far more so than I could ever be.  He's brave.  He's amazing.  He's learning to communicate without vision.  He's learning to read braille, in spite of the fact that we were told he probably didn't have the cognition to learn it. He already knows the letters A, B, C, T, H, F and M and short words containing these letters and he'll keep learning until he knows them all.  I know it.  Moise does not need vision to be the best that he can be. 

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It's finished.  The search for answers and solutions, the disappointment, the anger, the resentment, the endless eye appointments  We have fought hard and done everything possible to restore vision.  But we cannot.  We know that now and there is great freedom in acceptance.  We know that we can't change what is but I suspect it will change us.

God is good, all the time.  

Sorrow, Grace, Love

My friend Rachael said it best in a text to me.  "What a hard, rough, DUMB week!!!"  I had to laugh a little at the simplicity of her statement but it was ever so accurate.  Last week was a dumb week,  packed with emotion and heciticness and attitude and inadequacy.

The too familiar ebb and flow of grief-- we felt it in our own hearts and witnessed it in those we love so much--was nearly palpable  There were rivers of tears.  There were smiles too, smiles over cherished memories, smiles that didn't quite reach the eyes, smiles that didn't give way to laughter.  Not yet.  Someday, but not right now, not when grief is so very raw.

We shook our heads in disbelief as sorrow was compounded by more sorrow, loss upon loss, grief upon grief.  We railed on God a bit and wondered at his plan which, right now, seems upside down and backward.  We searched for words but found none.  We longed to help but were helpless.
 
Still, somehow, somewhere, in the midst of all the sadness, there was beauty.  We witnessed love in action.  We gained an even deeper appreciation for our church family.   We saw the brokenhearted held and comforted by arms that the human eye cannot see.  We held tight to the hope that we have of  heaven. We entertained mental images of our little girl being swung around in her uncle's arms.  We saw grace poured out. We observed strength in the brokenness.

At week's end, we celebrated Valentine's Day, a day of love, with those we love most.  The one's who know our imperfections, our weaknesses, our failures and love us anyway. Love felt even more precious with the fresh, aching awareness of how quickly life can end.  We didn't celebrate with flashy or fancy.  Just simple and quiet because we know that when all is said and done, when life ends, it's the simple that we cherish most.

  Blessed are they that mourn, for they shall be comforted

Matthew 5:4

God is good, all the time

Clinging To What I Know

I have been asked hundreds of times in my life why God allows tragedy and suffering.

I have to confess that I really do not know the answer totally, even to my own satisfaction.

I have to accept, by faith, that God is sovereign, and he is a God of love and mercy and compassion in the midst of suffering.

-Rev. Billy Graham

I've avoided blogging in recent days.  This place, this sanctuary of sorts, where I come to purge my thoughts, has beckoned me, but I have feared the intensity of my own emotions.

I know that God is good. I know that God does good. I know that He is sovereign.  I know that his ways are higher than my own. I know that he knows the beginning from the end. I know that he works all things together for good.

I know all of these things on a cerebral level.  But right now life just doesn't make sense.

Last Saturday, February 7th, an ordinary weekend turned tragic in a heartbeat.  My brother in law, Matt, a loving husband, extraordinary father, son, brother, uncle and friend drew his last breath on earth.  He left a wife and two beautiful daughters, my sweet nieces, ages 10 and 13.  We were blind sided by his death.  He had faced serious health issues in the past but last week we never even imagined that he was near the end of his life.

Shortly after Laynee's accident I received an email from someone.  One of the things that he wrote was this: "Don't try to make sense of it.  You won't be able to.  Like Noah's flood, grief washes everything else away."

Throughout the last week we have witnessed the grief and sorrow of many.  We have seen the aching emptiness that Matt's abscence has left.  We have heard of the many lives he has touched.  We have remembered and celebrated his life and mourned his death.

And because I cannot make sense of it, I am clinging.  Clinging not to what I see or feel but to what I know..........that God is good.  That Matt is in heaven.  That he has been reunited with Laynee, a fact that we all know makes him very happy.  That we will see him again one day.

God is not surprised by what has happened.  He's got it all under control.

But I do not want you to be ignorant, brethren, concerning those who have fallen asleep,lest you sorrow as others who have no hope.   I Thessalonians 4:13

God is good, all the time.