Tuesday, November 22, 2011

No longer a CHARGER??

So we met with genetics on Monday. We have a pretty great genetic's doctor that takes plenty of time with us and really likes to do her research.
She does not think that Nick has CHARGE syndrome anymore. She believes he has Lenz Microphthalmia syndrome. Nick has grown a lot the past year and has developed many more characteristics, I guess you could say, that push more towards Lenz.
His teeth are abnormal and he bottom two front teeth are fused to the teeth next to them. He also has camptodactyly, (permanent flexure of some of his fingers) which doesn't really fit CHARGE. And he has quite a few brain abnormalities.

This makes me sad in a few different ways.

First, we won't be part of the wonderful CHARGE family that we have gotten to know so well....although I still plan on keeping up with everyone and staying in touch!
Secondly, Lenz syndrome is an x-linked inherited gene. Meaning he got it from me. Only males who inherit the mutation are affected, females who inherit the mutation are carriers and are not affected.
Thirdly, the chance of this new baby boy having Lenz is 50/50. Just like flipping a coin. So far Carsen (yup that's his name!) doesn't look to have any abnormalities but we didn't see anything on Nick's ultrasounds (except for his cleft lip) until about 28 weeks. I am currently 26 weeks and we will have another level 2 ultrasound mid-december. We're praying he continues to be healthy!
Fourthly, my mother would also be a carrier, and each of my 7 (yes, I have 7 sisters and 2 brothers!) could potentially be carriers. So far, I am the only one that has had biological children. My oldest sister and brother-in-law adopted a beautiful boy last year but I've been the only one passing down the genes so far.
I have a cousin with Mowat-Wilson syndrome and apparently, Lenz and MWS are very similar and genetics is wanting me to make sure my cousin was not just clinically diagnosed with MWS and that he actually had the blood work done. I am certain he has MWS because his characteristics really line up with MWS but they want me to confirm for sure.
BUT, and I guess this is a pretty big but, they are doing further testing for Lenz to be sure. Nikolas actually tested negative for the initial BCOR gene testing for Lenz. But apparently, they only looked at one specific part of the gene. Now they are going to look at every part to see if there are any mutations.
THEN, if they find a mutation I would be tested to see if I am a carrier. I guess since Lenz is so rare they truly do not know if it's completely inherited or if it could be spontaneous.

So at this point we just wait for results, which could take 6-8 weeks. I am a little stressed about this but then I remind myself to trust in God. He's in control and nothing happens that He is unaware of and didn't allow to happen.
But, boy, that can be hard sometimes! Especially with these crazy pregnant hormones....

Just keep us in your prayers please. There is a lot of power in prayer and I realize that more and more each day.
We are so grateful for everyone praying for us all the time!

This is from earlier in the fall but I just love the face he's making!


  1. Wow. We will be praying for good and accurate answers for your family. I know how stressful it must be, and as always continued prayers for little Carsen (love the name!) to be a healthy guy! I guess if it does turn out NOT to be CHARGE (that's what they said for Mason at first too) or MWS or Lenz you could always have them check mutations on #17 chromosome in the range Mason is missing .. Mason has campdactyly (sp) also of his hands and very poor use of them at all and from the sounds of it, similar brain MRI, vision issues, etc. So far his teeth are okay though but he only has the 4 front ones in yet. or maybe we ought to look into those they think Nikolas could have...they sure do remind me of each other in several ways. Everything is sooo confusing ...

  2. Oh my goodness. I will be praying for your family. I hope they find all the answers you are looking for because not knowing is so hard. Good luck! And I love the name you picked out!
    Love, Calyn