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Monday, February 7, 2011

Genetic testing results

In November we went to Loma Linda to have her 6 month follow-up done and have genetic bloodwork drawn. We had hoped her bloodwork would give us some answers on her condition. She had something they rarely see, Hypertrophic Cardiomyopathy with Restrictive presentation, and questions were out there as to whether or not it was genetic and what it could possibly mean.

I got a call today from the genetics doctor at Loma Linda. Everything is still in the very early stages of gathering some answers, but I will share a few things here. Gabriella did have a change in the gene associated with cardiomyopathy, meaning she was born with the mutation and it was not anything that happened during my pregnancy that caused her condition. That was a slight relief, because I naturally had little bits of me that wondered. The issue with this gene, which I will call the T gene because the code names won't mean anything to all of you, is that it is the type of mutation that shows in adult onset cardiomyopathy, in ones 20's or 30's. So why did Gabriella fall into heart failure at 4 years old? This take us to a second gene mutation they found, we will call the M gene. On file, this combination of mutations has not ever been recorded in a case of cardiomyopathy. Given that they have not seen this combined, there are no statistics or information available. The genetics doctor says this causes her to consider that the M gene mutation caused the T gene mutation to progress, causing Gabriella to fall into a condition she shouldn't have experienced until later in life and at a much less severe level. This M gene, in my understanding, is like an instigator that made the T gene issues bigger than they needed to be.

The question is, where did the T gene come from, and is the M gene present in the parent that the T gene is present in? This is why Paul and I will now go forward with testing. Knowing which one of us, if either of us, carries it, we can better prepare not only our future but the future our son PJ and of the children on either given side of the family.

The other question, the one much harder for me to swallow, is that with this combination of mutations still in her blood, is her transplanted heart at risk? Doctors words to my question today, "it is possible." She did reassure me that Gabriella is going to be closely monitored for the rest of her life, with or without this information, but this may just mean we need to be a bit more conservative in her testing and monitoring to catch an early onset of HCM with Restrictive presentation again. The only thing this says to me is RISK. IF this did happen, the chances a transplant board would approve her for transplant listing are slim, given she has a condition that is chronic and it would happen again to a new heart. On the flip side, there is an equal chance this will not happen again to her transplanted heart and we will move forward as if she is solely a transplant case.

Now onto my selfish emotional moment.... The hardest part of this is, as most of you heart moms or moms of medically fragile kids know, I have dedicated my life to not just my kids but to this condition I have no control over but must maintain. I give 100% of myself to ensure Gabriella has the possibility of moving through the steps of life like any other kid her age. I try and do everything possible so she does not feel the exceptions that are in her life like the medications, bloodwork, side effects, invasive frequent doctors visits, therapies, etc. I want her to not worry about anything else other than just being a kid, like other kids do with ease. I want her to worry more about the new Justin Bieber movie or the super cute new headband she just got like the average 6 year old than the next ECHO or blood draw. While it seems simple in the grand scheme of things, it takes constant work on my end to always make sure everything is in line. While most parents work hard to make sure their kid has all the opportunities life has to offer, parents of kids like mine want that just as bad but have to jump through hoops of fire to achieve it. I am not complaining and wouldn't change this life for anything, but it is in fact difficult, I will not lie. Then, when you think you are in a groove of maintaining everything, you are told something that yet again changes the game, like I was today. My whole life invested in this- I silently carry the burden of the possibilities of her future while everyone enjoys her success of today. I praise God for the blessing we have been given, with a constant thought of what might be.

The biggest concerns up until today have been the side effects of the medications over the future, kidney function, possible coronary artery disease or losing this heart to slow rejection... I felt I was over the fear of such an uncontrollable and deadly disease taking over her heart, since the diseased heart is gone. Now, I have to always wonder if or when she might be faced with this defect again. No matter what else we find in her bloodwork, no data will tell us God's will. We must use this information as a tool for preparation. But given that being in my position, a heart mom, who I am now... this will always linger in the back of my brain.

It is impossible to explain, I am noticing. The burden and blessing of information... the way it changes everything for me as her mom knowing it is possible to come back just as much as it is that it won't happen. Though any more information won't change what is in Gabriella's bloodwork, I will be sure to update any new information we find about the origin of this CHD.


Colleen said...

Your mind must be going a thousand miles a minute! How do you sleep at night? My mind would be constantly going! Praying for peace, understanding and nothing bad ever coming from the news you received today!

Danielle said...

I wish I were in Arizona so I could give you a major hug! While I'm in a different set of shoes, I think we must be ordering from the same company. Lily has a genetic condition that we know nothing about, and likely won't ever know anything about. What I can tell you is that not knowing does get easier, though it takes quite some time for that to happen. But I know you'll be okay because you won't cling to the fear, only cope with what you know and move on in faith.

By the way, have I told you lately that I am truly honored to know you? Because I am, and sharing this next phase of your life is a privilege I am very grateful to have.


Megan@SortaCrunchy said...

Oh, Kristy. This must have come as such a shock for everyone. I honestly don't have any words . . .

Father God, please comfort Kristy in this time of confusion and distress. Thank you for the miracles in Gabriella's life, and thank you for sustaining this family to this point. Please infuse each of them with all of the strength and endurance they will need in the days to come.

* * * * *

I so wish I could be there, too, to just squeeze you tight. You all are always in my heart and prayers.

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Suzy said...

Kristi, I don't know how you cope with such're an amazing inspiration to all of us who know you. Sending huge hugs and continued prayers across the Atlantic- people all over the world are thinking of you all, all the time. xxxxx

Linda said...

Ugh! :( How horrible... I am so sorry! You thought you were just over the worst of the worrying and then it slams you in the face AGAIN! (((hugs))) to all of you!

Corey~living and loving said...

I have no clear idea of how difficult it must be for you. I can only imagine that I would die of the worry. I'm so glad you have such a wonderful support system around you and your family.