The Rollercoaster Continues

Rhys Man,
We have had way more than our share of ups and downs the last few days.  I think Daddy and Mommy's blood pressures are happy to take a break!  Let's try to do a recap that won't go on and on for hours...

Friday afternoon, we watched you head off for an MRI scan of your brain and abdomen.  Your doctor had told us that you were going to undergo quite a few tests and that your blood transfusion the day before would ensure that your body was reloaded and prepared for the stress.  Daddy went back to the scan with you and said it was hard to see tiny little you in the big giant MRI machine with little headphones to block out the noise and an air cushion that held you still.  They told us they would let us know when the results were in, and they came at a truly dreadful time.  Daddy was there with you and Grammy while I was home putting your big sister to bed.  It was Friday night around 9:00 I guess.

They said your brain scan looked clear, but that the scan of your abdomen led them to a diagnosis of an extremely rare chronic condition called neonatal hemachromatosis (let's just call it NH).  It typically doesn't get diagnosed in men until they are between 40 - 60 years of age!  And thought it is manageable in older people, it is very hard on a little body like yours.  We were devastated when we began to read up on it online (horrible idea), but we did come across the name of a specialist out of Chicago that was highly recommended and has tons of experience with this condition.

So essentially, they gave us this terrible news and expected us to wait out the weekend and talk to them again on Monday.  Not your Daddy!  He is a doer, a fixer, a man of action.  So he called the American Hemachromatosis Society.  On a Saturday afternoon!  And actually got a hold of the President and CEO, who miraculously agreed to get us in touch with this fabulous specialist (Dr. Whitington) and start some communication with everyone.  We were so excited to feel that there was any kind of forward progress at all.

Monday was a big day.  Early that morning, Mommy got a call from Dr. Whitington himself saying he would be happy to consult with our doctors and that they could contact him directly with your lab numbers.  We felt that if you were going to be dealing with a lifelong health issue that we would be forceful advocates to get the very best people on your case.  We did get to have a brief meeting with your doctor and a gastrointestinal doctor, who said we were looking at all the right things and that your upcoming tests were exactly what he would be interested in seeing.

That afternoon you also had a hida scan done, where they inject a dye that is attracted to liver cells and watch it flush through your liver and small intestines to make sure there are no blockages.  We still haven't heard those results, but maybe within the day.

The best news was that Dr. Whitington called back our doctor and said he did not feel that your current stats reflected a diagnosis of neonatal hemachromatosis!  We were so relieved since it would mean that there was a possibility that whatever struggles your little body is enduring, that there is a chance for a solution that would be permanent.

We understand that there are still a lot of possibilities.  We have discussed being transferred to Texas Children's Hospital in Houston so that they could complete any surgical procedures there.  There was discussion of a very distant need for a liver transplant, but we are praying fervently against it!  If we still need to do a liver biopsy, we don't know if they can do a needle-based procedure to take a very small sample of tissue or if they will need more.  We don't know if we will be admitted to the hospital or if we will be seen in their outpatient clinic.  There are lots of variables based on how you progress.

All we know is that we will gladly wait and see.  We will love and feed you every day.  We will be thankful for every snuggle, every sweet sigh and look from your big eyes.  We will pray for God to give us a sense of peace when we can trust the direction  he is leading us, and we will pray that he will make our hearts cry out when we need to fight for a different outcome on your behalf.  And we will be thankful that our tears of despair and frustration have been turned to smiles of joy for at least another day.

All my love,
Mama