The Genetics are in

As I remember back to the first week in the hospital I realize how much we didn't know.  Doctors were doings CT scans, MRIs, heart catheterization, and so much more to discover what was going on inside her body and what was the root cause of her Pulmonary Hypertension.  

At first we thought it was one thing causing it, but after more tests that was ruled out.  At that point they said it was idiopathic (no known cause) but we were still waiting for genetic results to come back.  

This week we were informed that Madalinn has the ACVRL1 gene.  This gene causes HHT (Hereditary Hemorrhagic Telangiectasia) and in some people it also causes Pulmonary hypertension.  This is the answer of the Why.   Many people remember that I mentioned that some genes are not receptive to medications.  This is what our doctor said, "it is one of the genes that has been found to be not AS responsive to medications.  We will still be aggressive with her medication therapies and monitor her closely." 

We are apart of a community on Facebook of parents with kids with Pulmonary hypertension.  There are about 5 other families who have the ACVRL1 gene.  Many of them have shared that medications have been successful at changing their PH from severe to moderate or mild.  Everyone's body is different and we know this is very complex.  We are still learning a lot about this gene and it's ramifications. 

Since it is genetic, our two sons will have the genetic test and an echocardiogram to check for signs of Pulmonary hypertension.  

Cincinnati Children's Hospital has Centers of Excellence for both HHT and PH. (Center of Excellence means that they specialize in that area). We have been contacted by Cincinnati to see Madalinn in their HHT center and they also would like her to see their PH specialists.  It will be a great get a second opinion.  These appointments have not been scheduled yet.  They will most likely be in January.  

Things to pray for:

1. Pray for God to open Madalinn's arteries and veins so her blood can flow easily to her lungs.  

2. Thank God that we are able to see specialists in Cincinnati

3. Pray for Josh and I as our bodies are feeling the physical effects of the stress of the past month.

4. Pray we will not find signs of PH in the boys

Comments

  1. LittletommysmomDecember 3, 2021 at 5:00 AM

    We continue to pray and think of madalinn. Does she have an Amazon wish list or anything?

    ReplyDelete
  2. Dave and CandyDecember 3, 2021 at 5:59 AM

    We will continue to pray for your family as you deal with this difficult situation. We love you all.
    Dave and Candy

    ReplyDelete
  3. UnknownDecember 3, 2021 at 9:37 AM

    Praying for Madalinn and your family 🙏💗

    Erinn & Jason Sample

    ReplyDelete

Post a Comment

Popular posts from this blog

Tuesday, November 2

Image
Playing Skipbo with the Recreational Therapist   Over the past two days the doctors worked hard to push her meds to reach the goal amount.  This means that she dealt with side effects of nausea and headache most of the time.  I was amazed at her endurance and ability to withstand it.  She enjoyed time with the Physical Therapist, Occupational Therapist, and Recreational Therapist.  They always have fun things to do with her. This afternoon they repeated the echocardiogram to see how the medication is effecting her heart.  The discouraging news is that her heart still remains the same.  Tomorrow (Wednesday) morning at 8am she goes for a long MRI from her neck to her pelvis.  This MRI will last 2-4 hours.  Pray that she will not have side effects from the meds while trying to lay still in the machine.  Pray that time will pass quickly and that she can make it through the whole test.  This MRI will give the doctors the images...
Read more

July Update

Image
    We have officially been in our new house for 2 weeks!  Boy has it been a wild ride!  Our closing was delayed so our turning over possession and gaining possession were a bit off.  We ended up staying with Josh's parents for a few days.  The day after we unloaded our Uhaul Josh came down with a stomach bug that had him down for the better part of three days.  We painted over half of our house in preparation for new carpet that came this week!  Now we can finally get to unpacking most of our stuff.  I have to say that we are all looking forward to being settled.     The thing that Crosby loves most about living in Centerburg is getting to ride his bike around town by himself.  At our previous house that was not an option at all so he feels so much freedom and responsibility now.  He rides to the post office daily to get the mail from our P.O. Box.  Madalinn loves the country and is dreaming about being in 4H next ye...
Read more

the Beginning

Image
  Madalinn is a sweet, caring twelve year old girl.  She is a great friend, sister, and daughter.  She loves stories, painting, yoga, and making movies.   For as long as we can remember she has never enjoyed running and playing.  When asked to play tag with friends she always said no.  She'd say, "I don't like the way I feel when I run."  This year we noticed increased fatigue.  She no longer like to ride bikes and became anxious to go on family walks.  It was hard to decide if being slow and inactive was part of her personality or if there was something physically going on.   Wednesday, Oct. 27 We deiced to get her checked out when her period lasted for 4 months and the fatigue was getting worse.  We suspected she was anemic.  Our pediatrician listened carefully and was very thorough in ordering tests and giving referrals.  My mom arrived for her scheduled visit and was able to stay with the boys while I took Madalinn to ...
Read more