Thursday, December 16, 2010

Genetics {Minus} 101 and Giovanni

Remember when I said that they were 95% certain she had MLD? Well, we are now facing that 5% of not MLD. I am trying to find any humor I can these days and my humor for this evening is in what will be my attempt at a genetics crash course hence the {Minus} . My graduate education although vast did not cover much of genetics and certainly the world of pseudo-deficiencies, ARSA enzymes and alleles was never touched on. I will do my best.

First, I felt my knees get weak and I thought I was going to pass out when Dr. Rizzo told Brad and I on the phone today that Giovanni had the same ARSA (or ASA) enzyme deficiency that Liviana has. At the same time he was reassuring that this does not mean he will go down the same road she is. That unfortunately is little consolation to me right now. He also shared that Liviana does indeed have a pseudo-deficiency allele for the ARSA enzyme which means that there is a good chance...more than 85% chance that she does not have MLD. She has A leukodystrophy but likely not MLD. The confirmation will come from urine which will be overnighted tomorrow (assuming I can finally be successful collecting enough from her). It is rare to find MLD in people with one copy of the pseudo-deficiency allele all though it does happen.

So...what does this all mean? It means that she is still deteriorating, she is still losing the white matter on her brain and we do not know why yet. There are other genetic tests being performed, particularly for a mutation in a e1f2b gene which would mean Vanishing White Matter Disease which is another, more rare leukodystrophy. For Giovanni it means we don't know anything either and don't know if he will begin having the same symptoms or what would be causing them at this point because we don't know what Liviana has.

So...if you are pouring your glass of wine right now...I will join you. I really have to find humor folks because I am terrified beyond belief, upset, confused and grasping at anything and everything I can. I will take any answer at this point and I just have to hope and pray that Giovanni's future is not the same as what Liviana is facing. It tears me down to the core to see her sweet face. Dear God it can't be! Please, it can't be.

We will know next week if the kids have sulfatides in their urine and will have one more answer that unfortunately may just lead to more questions.

My crazy, hair brained theory at this point comes from an article I found while researching the pseudo-deficiency of the ARSA enzyme. (By the way....1 in 11 of you have a pseudo-deficiency allele for the ARSA enzyme.) Here is the article. Basically, a pseudo-deficiency of the ARSA gene exacerbates the neurotoxicity of lead exposure increasing the sulfatide production. I do not know if Liviana has lead exposure but 1) she hasn't been tested and 2) Omaha has high levels of lead exposure (google Omaha and lead poisoning...we are on a CDC "list"). Our last home had our neighbors home replaced by the EPA for lead levels and our current home is flagged by the EPA for exterior trim painting and they were out measuring levels in our yard again 2 weeks ago. I called Dr. Rizzo's office and he said that lead poisoning would present itself differently, like anemia, and dismissed the notion. She hasn't been tested for anemia either. As a crazed mother I must rule out the lead poisoning since we know she has the pseudo-deficiency allele which could mean she does not have MLD but something else causing the rapid white matter loss. I am taking her to the pediatrician tomorrow to be tested for lead levels.

I guess if you are praying....pray for lead levels off the charts as an explanation because that would be a million times better than what we were facing or could face with an unknown leukodystrophy. I feel crazy even asking for lead to be an issue and I am also frustrated with myself for giving a sliver of hope to myself since I am not a doctor and surely they would have considered the lead issue with the known combination of ARSA enzyme deficiency.

Blah...it sounds crazy to even type it all out. I guess I am still in the denial stage. I bounce back and forth.

Thank you to everyone supporting us through prayer, meals, kind words, donations, gifts and love. Thank you to Jen for the Wednesday post on The Maternal Lens. The world of moms and photographers is strong and supportive.

I am getting Livi and Giovanni in the bath now. More later. Hug your babies TIGHT!

Amy

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14 comments:

Jennifer Morais - JMPNY said...

I am soooo praying for crazy lead levels with you mama!!! I love you guys! Keep strong!

Kennagurl said...

I have no words. I am from cafemom. Your story is touching my heart. I am in tears reading this. Please let me know what i can do to help.

Dotty said...

amy, im with jennifer, praying for extreme lead numbers, and i also feel nuts for praying for that, but like you said it would be sooooo much better than the alternative. my heart breaks for you and your family. prayers for Liviana and Giovanni.

Kara said...

I'm so at a loss. I just keep hoping they're going to say "silly us,it's just a wheat allergy" and then boom both kids are fine. Something, anything fixable.

Tara said...

I'm hoping and praying for lead levels as well with you!! I read your posts back a few days and cried through each one. I can't even FATHOM what you all are going through.I'm one that wants answers NOW- not in a week, do NOT take your time doctors! I think it's awesome what you're doing with the supplements, and when I keep reading deficiency, that's telling me deficient means you can supplement it with something. In my mind anyway. I'll have to do more research now. I'll let you know if I find anything. ;-) Keep us posted, and many, many (((((HUGS)))) to you all!!

Liz and Shane said...

I have been thinking of you and your family often and have you in my prayers. I brought Liviana up to the CDH team at UCSF. They are shocked and are saddened by the news. I am praying that the doctors get Gods guidance and have a solution and a cure quickly for your little girl. Praying Giovanni too.

Destiney Fischer said...

:( let me know in January when you are up to having someone for a few days, I will cook, Clean, do dishes, What ever you need, I'm here for you <3

craftytammie said...

I just wish I could help, Amy. I am thinking about you guys all the time. Let me know if I can help somehow...

Candice and Rob Beal said...

praying for you and the family! Im not really understanding what your saying about your son...im not wanting to think that he sick too....ill pray for them both! This is sooo not fair!!!! and i thought my life was hard! May God keep giving you strength!

kmm0305 said...

I was surprised to read that Livi's lead levels have never been tested. At every yearly physical we fill out a sheet to say if the kids have been exposed to lead in anyway, and they have a simple finger prick done. We get a letter with the results--I figured this was a common pediatric test. :( After Leah was born we found out that our house (and Iowa in general) had extrememly high levels of radon. No one seems to make a big deal out of that, either.

Hoping for the best for both Livi and Giovanni.

Jessica Fohner said...

Praying for lead levels to be way up there! You're not ridiculous for doing this, Amy. You're a mother and you, of all people, know that sometimes mom knows more than the doctor does when it comes to your own child. Lots of prayers coming your way today....and everyday! Love you guys!

Lorelei said...

Amy...your story will touch more people than you will ever know. Even though God knows the plan, even in our suffering...your family is so fortunate to have you as their Mommy! Prayers continue that the right doctors / research warriors, will lead you to the answers. Look to God to strengthen your weakness... then tear through the rest with ferocious intensity! You are amazing!

Lacy Hilliard said...

Amy,

I'm still here and I'm still praying. I don't know what to say to help you.... All I know to offer is my eyes and ears. I feel so much love and pain for you.

Please try to take care of yourself in the midst of this emotional trauma.

Keri said...

Found your story from THe Maternal Lense and I am so sad for you. Your beautiful beautiful children deserve a full and happy life with your cute family. I wish I could do more for you than pray for you right now, and hug my own babies tighter.
Sending HUGS from Connecticut. May you find moments or peace and understanding this Christmas season and lots of joy.
And somehow continue to capture that all on your camera. Your work is just absolutely stunning and powerful.