A More Detailed Update

Thank you so much Marla for giving everyone an update.  It has been a a lot for us all to process and we are still taking it all in.  Months ago Jason, myself, and Noah had a full genome sequence panel done.  We were hoping they would find a genetic link between Noah and I.  After waiting for over three years I was relieved to finally have some answers.  Noah and I both have a very rare genetic disorder called Desmin Myofibrillar Myopathy.  It's so rare that there is not a lot of information on the disease.  They have only recently discovered the disease within the last 6-8 years.  Our next step is to meet with genetics to go through counseling, gather information, and get Jonah tested.  This disease is very familial so the chances of Jonah having this disease are great.  If he tests positive we do not know how and when the disease will present itself.  I was 19 and Noah was 9.  I'm feeling thankful that God protected my life and I was able to get my pacemaker before this disease was even named.  We are also very thankful that we have caught Noah's cardiomyopathy early and that God's hand of protection has been on him. These are the biggest threats with this disease.  The other major concern is Respiratory failure.  The respiratory muscles become weakened because of the skeletal myopathy leading to possible death.

All of this is not what we had envisioned for our life and there is a lot of grieving however we still have hope. With Jesus Christ there is always hope  We can trust in him alone and trust that he is working all things for good.  We know and our confident that this is all part of his wonderful plan.  I know that he purposes these things for our good. I know that all these trials and all this suffering is so that the works of God can be displayed.  I believe these truths and hold onto them every day.  It doesn't mean I have to like this though, it doesn't mean that it's not painful and that I can't cry out to the Lord to take it away.

Romans 8: 22 says

 22 For we know that the whole creation has been groaning together in the pains of childbirth until now. 23 And not only the creation, but we ourselves, who have the firstfruits of the Spirit, groan inwardly as we wait eagerly for adoption as sons, the redemption of our bodies. 24 For in this hope we were saved. Now hope that is seen is not hope. For who hopes for what he sees? 25 But if we hope for what we do not see, we wait for it with patience.

Please pray that we would focus our minds on God's truths and his goodness and not be consumed by fear.  We desire to live each day with hope and joy.

Noah's appointment went well.  They can never really give us time limits for a heart for him.  They can only go by where he is on the Unos list, trends, and how often they have seen his name come up.  They did remove some avoiders. We did not ask what they meant by that.  We assume they mean peramiters they set at the beginning when they felt like we had more time.  They feel by doing this that it will help speed things up for him.  They also suggested we schedule Hannah's surgery right away since it needs to be done this summer.  They do not want to take Noah off the list for this which causes me great anxiety but again God will supply what we need and already knows the timing.  All I can do is trust.

It was a lot to take in so we appreciate your prayers as we make appointments and trust God with all the timing.  We are so thankful for the ways you all come along side us.  We are thankful to not have to walk this road  alone.  We feel very supported and truly thankful for you.

Noah's Appointment and News

Thank you to those of you who prayed for Noah's appointment at UCLA today. It turned out to be a significant appointment. After months of genetic testing, the doctors were finally able to give a diagnosis for both Noah and Mel. They both have what is called Desmin Myofibrillar Myopathy. They are excited to finally have an answer - especially this one which they have been waiting for for so long! They also found out that Noah's heart team thinks he will be getting his new heart soon, so they recommended that Hannah's surgery be scheduled ASAP.

There will need to be many appointments in the coming days and weeks - for Hannah to decide a surgery time, for Noah's next heart cath, and with the geneticist. Mel will give a more in depth update sometime soon. Please continue to keep them in your prayers during this time!

Surgery This Summer!!!

I apologize for the lack of updates.  I feel like at times I have been running a marathon and my body and emotions just can't keep up.  I want to sit and write and I emotionally can't put my thoughts into words.

I'm going to start with giving some details about Hannah and how she is doing.  We have noticed in the last month that she has been getting more and more out of breath with activity.  Her oxygen levels have began to drop slightly as well.  She has gone from the mid to high 80's down to the low 80's and sometimes below.  The doctor has been putting off her next open heart surgery for awhile as we have waited for Noah's transplant.  Today after her ultrasound he noticed some funky missed beats.  He decided to put a 24 hour holter monitor on her.  The holter will record the rythm and activity and allow the doctor to see if this is happening frequently.  He doesn't want to wait any longer for her surgery and is advising us to schedule it this summer.  I asked if we could wait to schedule it until after we talk with the transplant team on May 22 to hear there concerns about the timing.  We most likely would have to take Noah off the list for a week or two.  We will see Dr. Chang next month and will schedule the surgery at that time.  We would appreciate your prayers as we help our daughter prepare for this scary surgery.  Pray for both Jason and I as we know this is a necessary surgery but have so many fears as we walk this road again with her.  It's hard to believe it has been over four years with our sweet girl.  She recently got glasses and looks so grown up to me.  She is starting to read words and has a love for learning.  She is super brave and is a fighter and we have no doubt will do big things with her life.

Noah continues to do well.  we really haven't seen much change with his condition.  We take him on May 22 to see the transplant team.  Since it has been a year since his last heart biopsy we will schedule another one in June.  We are praying for God's perfect timing for the perfect heart.  Since it has been almost 21 months we really don't stress about getting the call.  In fact I don't even have a bag ready any more and rarely think to myself today could be the day. I should probably be more prepared but am thankful at the growth God has made in removing the fear and anticipation.  God will work out all those details when the timing is right. Noah has also developed a ganglion Cyst on each of his feet.  He had one drained a week ago.  They will wait to see if it goes down.  If it does not go down they will need to do an MRI.  The other cyst will be drained at the end of the month.  From what I have researched these ganglion cysts are sometimes common with heart patients.  They do not hurt him but could be harmful if they are infected.  It makes me sad that he has to deal with another thing but he handles it like a champ and it honestly bothers me more than him.


Jonah-  Jonah has enjoyed playing baseball.  He has been lucky enough to have the same outstanding coach the last three seasons.  It has been hard to keep up with his baseball schedule but we know how important it is for Jonah to play.  He deserves some attention on him and to do something he really enjoys.  Jonah will go see Dr. Chang on June 24 to have an echo and EKG.  So far Jonah has been ok but there is still the possibility that he could develop cardiomyopathy at some point.

We are winding down the last weeks of school.  I'm honestly amazed as I look back at the year we have had that we made it through.  We got our testing results back this week and I'm so proud of my kids.  They are all doing amazing in school and blow me away with what they are capable of.  God is good and I'm so thankful for the time I get to spend with them at home.  Hard to believe I will be a mom of a middle schooler, third grader, and kindergartner.  How does that happen? :)

Melody-  It was a hard month as I spent three long weeks without my much needed braces.  I had been told for almost two years that I needed feet braces(AFO'S) I fought against them because I was stubborn and not ready to admit I needed them.  I wanted to do as much on my own as I could.  After many hard falls it became necessary.  the first pair I got caused me immense pain.  I thought this was normal so i endured the pain for awhile.  After a few visits to the orthotics place, I was told I should not have any pain and that I should see a foot doctor.  I found a wonderful foot doctor from the help of a friend.  They casted my feet and fitted me for a different type of AFO.  While I waited for them to be custom made it was a dark time for me.  I had to be faced with the reality that I no longer had the option of not wearing the AFO's.  I relied on people to help me walk and used my wheel chair a lot.  We realized just how much this disease had progressed for me and it was very depressing.  I could not run a simple errand on my own and I hated every minute of it.  I  was angry and bitter and could not see past my limitations.  When I finally got the braces I can not explain the immense joy that has followed.  I'm so relieved to have this simple device that has given me so much independence and self reliance.  They do not cause me any pain and have allowed me to play baseball with my son. I even stopped hiding them and have worn them with shorts.  God has done and continues to do a work in me through this disability.  Thankful for the things he is teaching me along the way.

Jason- My sweet husband continues to care for us all.  He bears the weight of so many things and works so hard.  He continues to feel well and goes in for regular visits with his rhuematologist who doesn't see any concerns at this point.

We covet your prayers as this summer will be a busy one with lots of apointments, procedures, and surgery.  We are thankful for you all as you have prayed and supported us through this very long season.  Pray that we would continue to fix our eyes on Jesus the author and perfecter of our faith.