Monday, April 14, 2014

Scrambled genes and toast.

Genetics appointment complete. Grrr.

Up until this point doctors have been using the generic diagnosis of Epidermal Nevus Syndrome, however after seeing him today they confirmed (to the best of their knowledge) what I diagnosed him with months ago, Linear Nevus Sebaceous Syndrome (aka Schimmelpenning Syndrome). See my link for more detailed information about the syndrome. Zacchaio had blood drawn today and will have a tissue biopsy in the near future to test and isolate the genetic mutation that caused his syndrome. Only those results can truly confirm his diagnosis. Today's genetic test costs $4,400 and I'm keeping my fingers crossed that insurance is as generous today as they have been in the past!

In regards to Zacchaio's diagnosis, I'm conflicted with my feelings. On one hand I'm relieved because there were far worse syndromes under the Epidermal Nevus Syndrome umbrella that he could have potentially had. At the same time, I've exhausted my research on his condition and know the many ways it can manifest in the future... and it's scary. So I take a few deep breaths and remind myself to continue taking it a day at a time.


Although they were unofficial measurements, the genetics doctor measured the lengths of Zacchaio's limbs, among other things, and they have in fact grown longer than their left-sided counterparts. That's what I was afraid of. His hemihypertrophy is in full swing.

His right leg is 1cm longer than his left. His right arm is 0.5cm longer than his left. His right hand and right foot are also marginally bigger than the left hand and foot. I can't quite recall those measurements.
We cannot, nor can the geneticist, qualify the measurements or speak to which direction his care is now headed. We at least got an orthopedist consult so we'll know more at a later time.

Overall, our geneticists will serve as a kind of orchestrator throughout Zacchaio's journey. They'll collaborate with all the other specialties and recommend further radiological testing to continue to monitor the growth of his organs and any newly developing malformations.

Zacchaio's over-growing right hand, needle-stuck left arm,
and his incredibly sweet disposition during his appointments.

In other news, I forgot to write about us going to see a homeopathic doctor last week.
I always thought of homeopathy as a bunch of hocus-pocus. That is, until I saw a homeopath in June of last year as a last-ditch effort to aid in my morning sickness and neurotic behavior (sorry, babe) while pregnant. I went in with a hopeless attitude to say the least, and couldn't wait for my grand moment to announce an operatic, "I told you so!" to my husband. The thing is, my moment to bask in my own right-ness never came. Though unable to be proven by modern science, the hocus-pocus "10 times smacked vial, 7 drops dropped, and 15-second stirred" remedy fixed me. What?!

Considering my son has only one of the most rare genetic neuro-cutaneous disorders known to man, I figured a little hocus-pocus on him couldn't hurt; so we took him in.

We're currently day 6 into his initial 20-day remedy loading period, and although we haven't witnessed a miracle (I never expected one) I do think we're seeing some progress! Seriously? Zacchaio's right leg overgrowth (thickness) doesn't seem to be as stark of a contrast to his left leg as I last remember. The homeopathic doctor (who is a homeopath and an MD) says we should give the remedy three months to do what its capable of, and if after giving it adequate time we see no difference, we can try a different remedy. The bottom line is if someone told me that rubbing maple syrup on my son three times a day would help his condition even in the slightest, I would do it... while eating french toast. :)

God continues to guide us daily in our care of Zacchaio, and though it's not my strong suit, I am finally being a good listener. (God, please remember to add a gold star to my reward chart!)


  1. Alexis and Aidan, I know this is the toughest thing that parents and grandparents can go through and baby Z is so blessed that you are the ones going through this with him. I am so glad that the homeopathic doctor is being included in the treatment. I have always had wonderful results from mine. I love and miss you and will come out there to visit all of you when things are more settled. I promise, and you let me know when might be good. Vicki O'Grady

  2. As I am Southeast Asian, with deep ancestral roots in shamanism, I have my feet planted firmly in both Western and Eastern medicine.

    I am open to the Western medicine, but I cannot dismiss medicine that has been practiced for centuries. With that being said, I'm glad you're open to alternative medicine HOWEVER with the caveat that you are deeply ingrained with researching everything. We are cut from the same cloth, my lovely cousin. :)

    We send our love and prayers to you and your family and hope that we can come by soon to shower your family with our love in person.