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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