I have handed my son over to surgeons knowing they would stop his heart, and prayed that it would beat again. I have learned more than I ever thought I could. I have cried more than I ever thought possible. I have celebrated victories and milestones that others never have to. I have walked a road I never knew existed. I will walk this road forever. I am a mommy to a CHD Angel ♥ iLy Kayden James

Friday, February 10, 2012

CHD Awareness Week--Faces of CHD: Christopher's Story

 I am not sure where to start, but I guess letting you know how I learned about CHD. It was when my youngest son was born and I was told , quote, “your son has a lousy heart.” Those words were followed by, “there is nothing we can do, take him home and enjoy him.” Okay, I am thinking, “it’s 2008, what do you MEAN, you can’t fix his heart!?” People in general perceive CHD’s to be something like a minor hole in the heart, something that can be grown into, or “fixed”. The reality is that these children, SOME of them have the option of surgery, but not without lots of risk. Christopher is one of the ones that surgery isn’t an option for. His condition of dialated left ventricular non compacted cardiomyopathy means that that when a fetus is in utero, their heart is sponge-like ?(non-compacted)?. When they are ready to be born the heart will compact and become more solidified like a muscle. CJ’s heart did not do that - resulting in the cardiomyopa?thy (weakness of the heart). It affects his right and left ventricles where it is very hard for his heart to pump and function correctly. Nothing is missing, out of place, or backwards. It’s the whole heart, all big, stretched out, and stiff.

We took him home at 45 days of age and he was admitted into hospice the next day. The doctors told us that his prognosis was six months or less. We had to learn to accept that each day may be his last. It is a very hard thing looking into your beautiful child’s huge eyes and knowing he is just on loan for a short while. God is the only reason I made it through that period of time, and I never let go of my faith that God would make my baby whole and it was a win win situation for him no matter what. The footprints prayer, well that was me, God literally carried me through. I remember people saying "they don’t know how I could sleep at night". Well, in the beginning it wasn’t easy and the pulse ox was a huge comfort as I could listen to it beep and know his heart was still beating. But somewhere along the way, I grew more confident, and eventually the pulse ox got dusty and I felt peace in knowing that Christopher was going to be okay.

Some people called it denial, some people called it an amazing act of faith - I tend to agree with the latter.

I trusted God and with that trust came the biggest peace that is very hard to describe. We celebrated Christopher’s birthday weekly and monthly, cake and all. Eventually, his expiration date came and went, he still remained a hospice patient, and we were still taking it one day at a time. His first birthday arrived and I cannot express to you the joy I felt that whole MONTH. The day we were promised NEVER to see was here!!! We had a huge celebration, and continued to give all honor and praise to the Lord. Christopher continued to get older and when he was 15 months old his hospice nurse decided it was time to take a look at his heart (we weren’t allowed any more ECHO's) with Christopher being a hospice patient and they “didn’t want to keep getting our hopes up”. The doctor told us that his heart had slightly improved but that he was still hospice status. Two days later we received a call from him that our visit left him feeling like it wasn’t finished and he took annother look at his ECHO. He also had all of his colleagues review it and Christopher’s heart had improved so much that in his good conscience, he could not recertify him for hospice! Okay after trying to put into words how I felt on his birthday, this is even more difficult to describe. Our language does not have a strong enough word. I can tell you that God does reward trust and faith and Christopher is a living breathing example.

In February 2010, it was discovered that Barth Syndrome is the cause of Christopher's cardiomyopathy.
Barth syndrome is a rare, sex-linked genetic disorder of lipid metabolism that affects males. Typically, boys with Barth syndrome present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth. Other important features of Barth syndrome include bacterial infections because of neutropenia (a reduction in the number of white blood cells called neutrophils), muscle weakness, fatigue, and short stature. Although most children with Barth syndrome manifest all of these characteristics, some have only one or two of these abnormalities and, as a result, often are given incorrect diagnoses. It is very rare, less than 200 known cases worldwide. So much that if people would hold hands from one end of the world, all of the way around, only one of those people would be a boy with Barth syndrome.
There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled.

He is now 3 years and 8 months old, his 4th birthday is rapidly approaching and I am basking in every minute with him. I still know better than to take for granted my time with him as we don’t know when god will call us home. It is a true miracle that my christopher is alive today. God is still in the miracle business. Also, doctors have to tell you what they have learned in the text books, but that doesn’t mean God or the child in question is reading that same book. I don’t know God’s plan, but I know that the least I can do is to continue to honor and praise Him, while also helping to spread CHD awareness.
The main symptoms of Barth syndrome include:
dilated or hypertrophic sometimes with left
ventricular non-compaction and/or endocardial
chronic, cyclic or intermittent
Skeletal myopathy
with general fatigue
Growth delay
that can be substantial until late teenage years
What is Barth syndrome?
Please note that there is great variability
between different patients. There is also
great variability with regard to any single
individual over time.

Cardiomyopathy and/or neutropaenia may not always be present at diagnosis and may vary with age. Boys with Barth syndrome often look
deceptively healthy Major clinical problems Congestive heart failure
Gross motor delay Growth delay until late teenage years Exercise intolerance, lack of stamina Risk of serious bacterial infections
Risk of fatal arrhythmia
Other clinical observations
Fetal death / stillbirth
Feeding problems Frequent diarrhea
Recurrent mouth ulcers
Hypoglycaemia, especially during early childhood
Characteristic facial appearance (large ears, deep
set eyes, myopathic facies), nasal quality to speech,
waddling gait, positive Gower’s sign
High incidence of minor congenital malformations
Chronic headache and body aches, especially
during puberty
Mild learning disabilities
Cardiolipin abnormalities
3-methylglutaconic aciduria
You can read more about Barth syndrome at

1 comment:

  1. Looking for CHD Awareness pictures to use on our CaringBridge and FB page, and low and behold we ran across this page and yelled, WE KNOW CHRISTOPHER!! He's a fellow Champion!