an Update


This week the boys went in for their Echocardiograms and EKGs.  They were excited to get to experience a little of what Madalinn has done.  It was an early 7:15 visit and they did amazing.  The great news is that neither of them have any signs of Pulmonary hypertension!   Soon we will be getting gene testing kits in the mail for the boys to be able to submit spit samples.  It will be about a month before we get those results back.  The test will be specifically looking for the gene that causes HHT.

Speaking of genes, we had an appointment with the genetics person on Tuesday.  She mainly knew of this gene as it relates to HHT.  I'm looking forward to speaking with a cardiac genetics person about how it relates to PH.  What we do know is that severe forms of HHT can cause Pulmonary hypertension because of causing too much blood flow to the heart. This happens is about 13% of people with HHT.  That is not what is happening with Madalinn.  About 1% of people with HHT have Pulmonary Hypertension because the gene itself caused it.  That is Madalinn's case.

Though HHT runs in Josh's family (his gpa, mom, all her siblings, Josh, a few of his cousins) there has never been anyone who has had Pulmonary Hypertension.  For each gene positive person, HHT can manifest itself differently and to varying degrees of severity.  There is a 50% chance that someone with this gene will pass it on to their child.  Madalinn "won the lottery" of being gene positive and then being in the 1% of all those who have HHT.  (mind boggling!)

January 18 will be our appointment with the HHT center in Cincinnati.  We are still waiting on a scheduled time to meet with the PH team there too.  They are trying to get it on the same day.

Next Wednesday, Dec. 15 is Madalinn's next appointment with her PH specialist here.  She will get an Echocardiogram and EKG to help the Doctor understand how the medications are working.

Ways to Pray:

1. Pray that God will miraculously open up her blood vessels so that the blood can freely flow to her lungs.

2. Pray for us as we wait for her appointment next week to trust that God is working in her body.  It is easy for fear of bad news to take hold and cause worry.

3. Praise that we were able to go to our homeschool co-op Christmas party yesterday and spend time with our friends. It was so good for all of us to be there.  Madalinn did great being out and about.

4. Praise that Josh's visit to the cardiologist (just to check him out) went well.  We praise God that he and the boys have no signs of PH.

 

Comments

  1. UnknownDecember 10, 2021 at 7:04 PM

    Still praying for all of you. So glad you were able to spend time with friends from co-op!

    ReplyDelete
  2. C fox goDecember 14, 2021 at 12:13 PM

    We continue to lift sweet Madalinn, and all of you, up to our Heavenly Father. Continue to trust in His love and faithfulness, sweet children.

    ReplyDelete

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