Saturday, February 28, 2015

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?


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.

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