Final Genetics Results

In February, I posted preliminary results of Gaberiella's genetic testing. The full blog is here: http://listeningthruthenoise.blogspot.com/2011/02/genetic-testing-results.html but here is the most important excerpt:

"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."

And right before this recent stent in the hospital, I got our follow up results!!!!! We were scheduled to go in to genetics at Loma Linda, but this was cancelled due to her hospitalization. We will have to reschedule, but the genetic counselor at the genetics lab spoke to me in detail and explained the results.

Neither Paul, PJ nor myself carry the disease causing gene linked with HCM, mentioned above as the T gene. This means it was a "spontaneous" mutation (per the geneticist) or in  my words, the way God carefully created her. Paul and PJ both carry the M gene, also called a variant gene. But without a disease causing gene for the variant gene to modify, it is a harmless gene.

This means so much. It means we do not have to worry about PJ having this same condition. It means we do not have to worry about this being a genetic condition passed through family lines to our 11 nieces and nephews or hundreds of cousins. It means that if we do choose to have more children one day, the risk of having another CHD baby is that of any other parent, 1 in 100, with only the added risk of the modifier gene being passed down.

I always say to everyone that God gave us Gabriella for a reason. Her story is to be shared as a physical reflection of His mercies and love. Regardless of the results, we would have believed this, but it makes it even more special and isolated knowing she truly is unique and was created with such intricacy, something we were blessed to be able to see through gene testing.

Romans 8:28 And we know that in all things God works for the good of those who love him, who have been called according to his purpose.

Winning. Duh.

What a relief. The weekend went well despite Friday night being a little rough on my girl. We enjoyed being inside, since both Gabriella is on house arrest and it is hotter than an oven out there! Saturday I ran errands... Had to catch up on 2 weeks of neglected groceries and household items and go to my long over due eye appointment I had cancelled while Gabriella was in the hospital. Saturday night, PJ and I went on a mommy son date to my sisters dance recital. Sunday we stayed home and I made a yummy dinner... Gumbo! Things were nice and uneventful, just the way we like it. :)

Gabriellas bloodwork done today by home health was great! Her levels of immunosuppressant are a little high now, which is better than low. Her magnesium levels are being stubborn but we will continue watching it. If her levels stay stable we will remove the PICC line before next weekend. We went in today for an ECHO and that too looked great! Function returning and leakage improving. We have a few more blood draws and a clinic appointment Thursday for this week and I am sure it will only get better!

Our coordinator was telling me how a girl they just did a biopsy on last week showed grade 3 rejection with no symptoms while Gabriella showed a grade 1-2 with total decline. Its amazing how rejection works and how it is so unique for each kiddo.

We don't know what our future holds with the risk of further rejection but I know this was another battle won by Gabriella! This girl keeps pushing on through whatever is handed to her.

HOME!

I'll quickly get to and past the hard part, because harping on my disappointment is not worth it. Long story short, we were moved from cardiac at 1am to the general peds floor. Thankfully it was a private room, but nonetheless it is more of a holding cell for kids like Gabriella. They needed the bed on cardiac, and I cannot blame the nurses, doctors, or any of our medical team. I'm disappointed in the hospital for opening a brand new, state of the art hospital set to cater to all the kids in the southwest at a level of excellence and they still have yet to open a cardiac step down for our kids who need more than general peds.

Anyways....

My lack of sleep last night over my aggrivation built confidence to tell the docs on the unit I wanted out today. She isn't on any advanced monitoring and only here to take meds orally & have blood drawn. Luckily my amazing transplant team agreed and is sending us home on home health and a PICC line. A nurse will come and draw levels daily so we can intricately adjust her med levels. We got her 12 outpatient meds delivered and sorted, my advanced schedule of 7 med times through the day and supplies to get us by at home. One last dressing change and we are waiting for transport to take us out!!!

We will proceed with caution for a while. Since she has a PICC line, just finished an aggressive immunity treatment over the last 2 weeks and her levels are lower than desired of immunosuppressant, we will be semi-hermit for a while. Well worth the trade off to be home and in our element.

I couldn't be more blessed to be sitting here watching her do so well again. Makes these last 15 days away from home, away from PJ & Paul and sleeping on a recliner with infrequent showers SO worth it. I'm so honored to have a fighter on my hands. I need to remember this when she is strong willed about other things... I'd rather have her stubborn than one who gives up!!!

Extended Vacation

The overall idea was that we were going home today. Any of you used to ICU life, you know we don't ever mention a specific day, we don't pack our stuff and we don't make plans around a specific date. Turns out, we are NOT in headed home... Because Gabriellas body is as stubborn as her mind! Her magnesium levels continue to be low, regardless of how much IV or oral replacement we give her. Today, to top it off, her immunosuppression (tacrolimus) levels are HALF of what they should be. This is a big issue because if her levels aren't right she could face rejection again, especially so fresh off of a major rejection episode! So we are staying here to get it all figured out. We have spread out her medications to 6 administration times throughout the day and night (27 actual drug administrations) to prevent interaction or absorption effects and see if we can get her levels on track. She had an ECHO today that I'm still waiting on specifics from. I'm not going to say tomorrow, or Friday, but I will say I hope its before Sunday so I can spend a day with my family all together!!!

We were supposed to be in Loma Linda right now for genetics, biopsy & kidney function testing. Seeing as how its 113 in Phoenix, if we can't be in California, I'll find the positive in being here that we are not outside!

We are now a few rooms down from some transplant friends. Please pray for little L, who is almost 1year post transplant and having lung & intestinal issues! I love seeing our friends, just wish it wasn't in the CVICU. :)

I'm so thankful for this gorgeous new hospital. It truly is comfortable in an odd way. We don't feel cooped up at all and are thankful for the amazing nurses we have had. It has all made a difficult issue tolerable and we will stay willingly until she is safe to leave!

Another wonderful day

Another ECHO today showed more progress! Every millimeter smaller, every droplet less of leakage and every number change is welcomed by us!

They have stopped Gabriellas IV epinephrine and her r-ATG treatments are complete. Today they stopped her IV Lidocaine, magnesium and sodium fluids... And we are hoping she reacts well! The next step is to stop her IV Milrinone.... But that will come in it's own time. Her r-ATG did it's job, depleting her t-cells, and it was successful in stopping her rejection.

So we have gone our first round of rejection, and it was a severe one! We are ever faithful that this will not happen again, but we will not take for granted the healthy times we have and will always be on guard now that we know she is the kind of kid to quietly fall into full blown rejection.

If we can get her levels right of immunosuppressants, get her magnesium and sodium levels back up to where they should be and continue to see progress, we can get out of here! Last night was night eleven here, which could have been miserable in the old unit but is luxurious and tolerable here at the new tower of the hospital!

Thank you all for prayers up to now, and we ask that you do not stop! We believe in complete healing and restoration, and all God wants is for us to simply ask. Prayers to Him are precious not just for him but also us. God is always near, always listening, and does not need fancy words... Just loving meaningful conversation. How lucky are we to serve such an amazing god....

Sparkle, sparkle little heart

Yesterday was another glimmer... As ECHO showed further improvement in her heart function! Her overall energy and morale was also wonderful! She had some bedside OT and PT to help with her weak legs and arm. We managed to be so busy she didn't watch ANY TV so I was relieved! Her bloodwork is also showing that the r-ATG is doing its job and diminshing her t-cell count. We have 2 doses left of r-ATG and will be done by Monday morning with it.

The game plan is to finish the r-ATG and get her off other IV meds, switching most to oral. Since she is moving towards being stable enough to go home mid to late next week, we will be checking blood and ECHO every 2 weeks after discharge to keep her out of here. She also will have another biopsy in 1 month to recheck pressures and rejection. The r-ATG treatment will take 3-6 months to fully remove from her system, so we will watch her blood counts to see when she is 'safe' again, but until then she is back to wearing a mask and keeping home more than we had been. This affects school in August (along with other factors I learned yesterday), something far too complicated and better suited for another blog this week when I have time to go into detail.

Gabriella is going home on more meds than she did post transplant! We are going back to all of the original meds she was sent home on last year, plus supplements of nutrients she is lacking, plus meds for her declined function. Her heart needs a significant recovery time, so we will watch for signs of improvement in the relaxing phase of her heart- the function that was badly affected. One day we will attempt to lower the function medications and see how her heart reacts. We are faithful for full restoration though, and will allow God His timing in doing that.

We haven't wanted for anything in here. Nurses have been wonderful and spoil my girl rotten, the gifts & activities have poured in like candy to keep us busy, I have snacks galore, but more importantly we have felt the love in every visit or message. We haven't really felt lonely up here because there is always someone calling, messaging or visiting to make us feel connected to outside. We do miss our hard working daddy, and little brother PJ, but we are doing what we need to in the short term to have long term time together.

God bless every one of you. I hope your Fathers Day weekend is filled with as much hope and blessings as ours!!!!

IMPROVEMENT

ECHO HAS IMPROVED! Treatments are working and function shows her heart is working slightly better! We couldn't be more relieved for this direction!!!!

Please continue to be fervent in prayer! The cries to heaven are working and we know God will guide the doctors and provide complete healing... Our faith has never wavered!

Watch & wait

We met today with key people of our cardiology team & CVICU team to talk about what's to come. Gabriellas function has yet to improve and she started presenting with PVC's today- irregular heartbeat- another sign of her aching heart. She's on so many IV drips to control her heart function as best as possible. Turns out her biopsy results were not clear cut conclusive, but she is certainly in some level of cellular rejection after further testing. The portions of her heart affected by this rejection are not typical or on track with rejection, but in a good way because some muscles have been spared this far. Her kidneys are producing beautiful urine so we do not have to stress over that right now.
The initial option today was to transport Gabriella back to Loma Linda. Reasoning behind that was more big picture. IF she goes into a more critical status where she needs ECMO, Loma Linda has the resources to care for her from a transplant standpoint. They can relist her while they cannot yet do that here. After we all conferenced with Loma Linda, they encouraged us to keep on with the full Thymo treatment and watch what her blood says. They said they'd be happy to take Gabriella but they are confident in the treatment. So we are staying here for the time being while Loma Linda runs some in depth labs on her. I'm confident in the plan, but not comfortable. I won't be until they see improvement in her. But I won't be comfortable anywhere until she improves. And that's what I continue to ask for in prayer, is improved function and restored structure.

Gabriellas spirits are completely turned around today. With the exception of being angry that she can't walk around, she's overall in good spirits! We have had loving friends, comforting family and faithful prayer warriors come today and it is just what we needed to keep us smiling.

Like Paul said to me earlier, we need more than medicine... we need God.

I'm going to have an 'iced tea party' with my smiling girl, enjoy right now and pray for many many many more years of tea parties. <3

Just a bit longer

A quick update before I attempt some sleep. Biopsy results are still pending. Cellular results came back a 1a rejection, very minor rejection with minimal impact... and the results could have been altered by the IVIG treatment or by something else going on in her body. And that surely did not cause her rapid heart decline so it is no concern right now.

We are pending biopsy stains on humoral rejection. I was going to post details on that but will wait because the stats aren't anything I want to keep looking at until we find out a diagnosis. If it is not humoral, we will further investigate.

Gabriella is critical so I ask that you do not stop praying for clarity of diagnosis and Gods continued protection over our princess. We have been enveloped by your prayers and blessed by the kind words. I am trying as hard as possible to reply to all, but I am reading them all for sure.

God bless, from a mommas broken heart. Good night.

Impatient Momma

Can you believe we are still waiting on biopsy results from yesterday??

For the medically savvy: Last nights r-ATG treatment went well with little reaction. Today they decided to start another medication called Epinephrine for her heart function, since cardiology was surprised at the more critical status her cath showed. Along with the Milrinone, steroid, fluids & lasix. We are trying to combat her heart failure while also attacking her rejection.

They just finished placing a PICC line and will remove her IV leaving just the PICC in her arm and plasmapharesis cath in her neck. I had a minor freak out session because it seems we are placing a lot of ports with no sure direction, but after talking to the docs I'm better understanding of it. Goes with my theory that if you don't feel right make them convince you. It was the first PICC I stayed in for but it went well.

She's peeing more and we are watching her renal system for kidney function to make sure that doesn't give out on us.

Once we get these biopsy results back we will decide whether we move forward with plasmapharesis or r-ATG (thymo). Whatever it is, I wanna know now. Time is ticking and doctors are anxious.

Gabriella is very tired and sad. She keeps asking me why she has to do scary stuff. PJ went to Bible Camp today and she was sad she couldn't go. This is so hard on her 6 year old little spirit, but her willpower & stubbornness is still in tack! Even after 3 doses of light sedative, she was still telling the PICC team what to do.

Who else gets to hang with a warrior today? I know I do. I love that girl.
Kristi Vega
www.GabriellasHeart.com <3
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Treatment

So we are changing our course of treatment. After Loma Linda heard about the results of the cath, which showed extremely high pressures and a stiffened heart, they decided an aggressive treatment was necessary. They will be starting Thymoglobulin, what was given immediately after transplant to completely wipe her system. Whatever is going on with her heart needs to be tackled quickly because of the speed of her decline. Thymo has a lot of risks but in light of what's going on, they are risks that need to be taken. It will run slow and we will take it day by day, watching for progress and side effects. Tomorrow we will also get the results of e biopsy and decide if we are on the right path or if something more effective comes to lig with the results.

(edited to add: the r-ATG, which is the kind of Thymo Gabriella is getting is made from rabbits. r-ATG is made by injecting rabbits with white blood cells. The rabbit's immune system makes antibodies to destroy the foreign white cells. The antibodies are collected and purified to make r-ATG. Fun fact for the evening.)

Gabriella is struggling with the sedatives, and we had to further sedate her to keep her calm. It is very hard when she wakes because she cries that she is done and wants to go home. The intensivist has stopped rounds for tonight on the floor to get Gabriella taken care of, her transplant coordinators from here and Loma Linda have been calling me faithfully and everyone is working hard on tackling this rejection.

I just ask that you all pray for clear communication between all doctors involved, strength in Gabriellas body to keep pushing and full restoration of her heart function.

Rejection Results

The whole weekend of testing and waiting gave us results today, just not the ones we wanted. Her echo showed worsened function and they decided she is almost definitely in antibody mediated rejection. What we have always watched for was cellular rejection, where the heart tissue itself was in rejection, and is how we treated it this weekend but in fact was not. This antibody mediated rejection is caused by antibodies in her blood that are damaging her heart.

They are going to do a biopsy/cath here at 430 PST to check her coronary arteries and take a few tissue samples. They will also place a dialysis style port in her neck to start plasmapharesis tomorrow, pending biopsy results. Plasmapheresis is like a dialysis, where they pull her blood out, remove the plasma containing the bad antibodies and insert the cleaned blood with a donor plasma. This will be up to 10days of treatment, but I am waiting to hear the protocol from Loma Linda for Gabriella. It will also wipe out her immune system like the days after transplant so we must go back to original precautions w a mask & germs.

They also will place her on a medication to relax her aorta and redirect the increased regurgitated in her mitral valve that this rejection has caused. Stopping this rejection could or could not reverse damage, but for now we will just treat what it has done.

Loma Linda is guiding our wonderful cardiologists here in Arizona and overall I feel comfortable. The teamwork gives us comfort and we will not loose faith. This should be what we need to get her out of rejection, and we will pray that into action. Here forward we will increase her daily immunosupression meds to prevent this again. But for now we are praying her cath lab procedures go smoothly, the treatments work and her heart is a sparkly as ever when this is said and done.
Kristi Vega
www.GabriellasHeart.com <3
Sent from my BlackBerry

Rejection

The time has come. While the first year is most critical, a transplant patient is never free of the risk of rejection.

Gabriella has been having upset belly aches lately and today's was debilitating. A belly ache in a transplant kid can mean the normal too much candy or it can mean rejection. Imagine how fun that is for us as parents to figure out! The difference today was Gabriella's heart rate, elevated at resting. Her transplant team instructed us to go to the ER. I was hesitant for a few reasons, but the high heart rate sold me so we came to Phoenix Childrens Hospital.

ECHO showed a 5mm enlargement of her left ventricle in comparison to her ECHO 2 weeks ago. It also showed significant leaking in her mitral valve, where she typically just has a 'trace'. After our cardio team here in Arizona consulted with the transplant team in California, they agreed Gabriella was beginning rejecting her sparkly heart. Loma Linda advised an aggressive steroid regimine and 48hours of IVIG to help her body stop the rejection, then increase her target range of medications to prevent her from going into rejection again.

Gabriella feels great, thank goodness. Like the CMV she got August last year, we caught it early before any effects took place on her or her angel heart. She even told me in the car that her heart felt great. Gotta love my little fighter!!!

I'm convinced this was caused due to a combination of things... Changing both of her transplant meds, lowering her target range and her body not metabolizing them properly. The combination, not anyone's fault, was just enough for her body to go on strike against her sparkly heart. But the most important thing is that she's happy, her heart is not damaged or stressing too much and we can kick this before it's too late! I'm thankful to God for that!

Thank you all for the prayers and being so faithful in not forgetting Gabriella. Please pray that this plan of action is enough to stop rejection and that her heart remain strong through this!!!
Kristi Vega
www.GabriellasHeart.com <3
Sent from my BlackBerry