Tag Archives: Prader Willis

January 26th 2010

26 Jan

It doesn’t happen very often, but I was caught completely off-guard today.  As you know, Makoa has been progressing nicely and we finally had a diagnosis of Icthyosis Syndrome.  It is, of course, the mantra of the NICU; Take it one day at a time.  I think we might have gotten ahead of ourselves because the Doctor’s dropped a bombshell on us today.

I received a message this afternoon from the NICU asking to call the neonatologist.  I immediately called and the Neonatologist told me that the test for Prader Willi Syndrome (PWS) came back positive.  She told us that the staff was completely shocked by this because he isn’t really showing signs of it.  I have echoed the same sentiment since the first day we were told to “look it up online”.  I have always maintained that he doesn’t have most of the symptoms that are listed.  The undescended testes are probably the biggest commonality that Makoa has in the syndrome, but that is also accounted for in the X-Link Icthyosis according to the Doctors.

I immediately left work to head down and be with Tiffany at the hospital.  Once I arrived, I hoped on the phone with the geneticist from Harbor UCLA and asked him a few questions.  They were general things like:  ”Can PWS in the 15th chromosome be at all confused with the X-Link Ichthyosis?”, “If his symptoms are a-typical for PWS, should we have an additional test done just to confirm?”  His answers were pretty straight forward:  I don’t think so, and I don’t think so.  He did recommend the same thing that the head neonatologist said when we received the Icthyosis diagnosis, you should probably see one of the Pediatric Endocrinologists at Children’s Hospital of LA.  Oh the irony!

Perhaps I’m in denial.  I’m not really sure.  I just don’t feel like he has PWS from what I’ve read.  Then again, I’m not a doctor and my knowledge is coming from 10th grade biology and Google.  My biggest concern after tonight is Tiffany.  This entire process has been very difficult on our entire family, driving all over-the-place, sleeping at different houses, spending all day and night at the hospital.  This was the straw that “broke the camels back” for her and it breaks my heart.

I married Tiffany for a number of reasons, probably too many to list here.  The main reason I think that we work so well together is that we “fill in the holes”.  By “fill in the holes” I mean we compliment each other in that she picks me up and fills in the weakness that I have and I do the same for her in turn.  This journey has been probably the most difficult experience of our young and budding marriage.  I have asked Tiffany to put her faith in God and realize that He has chosen Makoa for us and we are going to be the best parents for this little man.

Through the Grace of God I have a very different outlook on the situation.  There is nothing wrong with Tiffany being upset and struggling with what the doctors have told us.  I think it’s only natural to feel this way, especially as a mother who’s baby is still in the NICU.  I wish I could give her the gift that God has placed on my heart, but sadly I can’t.  I keep encouraging her to open her heart to God and let him take over.  I continue that pray that God lifts Tiffany up and comforts her and bring her closer to Him.  That is my biggest prayer.

I really can’t explain the transformation that God has done in my life, but all I can tell you that it is nothing short of amazing.  I must give Him all the glory for answering my prayers and transforming me into the Man I am and allowing me to throw away childish things.  I’ve also found that since God has equipped me to be a strong and faithful Christian, I must open my heard and listen to God’s word to me.  One of which is this blog.

I was actually writing a mid-day update today when I got the call from the NICU.  I was commenting how amazing this experience with the Blog has been.  People from all over the world have been involved in our “viral prayer” and I know it has had a profound impact on our family and especially Makoa.  It’s been amazing to hear of other people who are in similar situations as us, or just need prayers.  Even one of the NICU nurses, Lenny, asked us to pray for her.  God has put it on my heart to ask for prayers from others in need as well.  So I’d like to ask all of you to take a moment to keep the following people in your prayers:

Mark & Erica Fleischauer
Lenny (NICU Nurse)
Chris Chaussee’s Niece
Chris Plaman’s Son
Ashley Harrison
The other children in the NICU

I’m sure there are other people I’m forgetting and if I have, I apologize and would like to include you. If you have someone that you would like to have added to our prayer list, please email us at prayer@babymakoa.com and we’ll make sure you get added to the list.

We are so grateful for the love and support our friends and family have shown us. I’m not sure what the future holds for our family, but for the first time in my life I am moving forward without fear in my heart. Since I have asked God to guide me and to give me strength to lead my family, He has blessed me and given me a most wonderful gift. I will continue to get up every morning and put one foot in front of the other, excited to see what life has in store. Most of all, I will make sure to be there for my Wife when she needs someone to lean on, and the best Father I can be to my three beautiful children. That is my solemn vow.