Sunday, November 1, 2009

Still at Childrens

Still at Childrens in Dallas. This week has been a hard one to say the least. This was definitely not the way I thought we would spend Easton's first Halloween. However, even when times are hard God is still good!
After this week full of every test imaginable, we have a probable diagnosis. Shwachman Diamond Syndrome is a genetic syndrome which affects the bone marrow and pancreas. Luckily, although there is no cure, there is treatment.
Since EJ does not produce pancreatic enzymes like we do, he will have to take porcine enzymes to breakdown his food for him. He takes them every three hours and they have already started to help. His swelling is finally down and now we are hopeful he will absorb the nutrients he needs. The Drs mentioned the possibilty that his decreased brain matter COULD be linked to his severe malnutrition. Essentially his body was starving not being able to absorb any vitamins fat or protein. This is why he has not gained weight since July. Thankfully with his meds and vitamins we can hopefully reverse some of this.
As far as his immune system goes (his neutropenia), this will be harder to treat. The hematologist are discussing a bone marrow biopsy and then possibly starting some bone marrow stimulating injections. He would take these daily. Our goal is to try to be able to give him as normal of a life as possible without having to isolate him to much. Right now we are under isolation and it breaks my heart. He is so very vulnerable to every germ. This is a life long illness and we will work closely with our team of doctors.
As of today he is not recieving feeding through his feeding tube, but he is still throwing up. Pray he tolerates feeds!
All in all today is a better day and I am thankful for that.
The gene tests to confirm the diagnosis takes about three weeks, and I will of course share those results with you.
Thank you for your prayers, we have felt them all!

4 comments:

Krista said...

Hi Ivy -- Thanks for the update. I'm praying for you and your family, esp. the little one. If there is anything that you need during this time, please let me know! You guys are in my prayers.

Krista

Erin said...

Elly, with the triplets and new baby. 3 of her 4 have SDS. You should talk to her.

I will keep you all in my thoughts and prayers.

Elizabeth said...

Wow! I hadn't met another SDS patient yet. Huge hugs on the Dx. Has the b/w been done already? We should talk sometime soon. 3 of my 4 kids have the positive Dx of SDS, and we've been managing really well! It wass tough at first, but it's something that is definitely livable, kwim?

Rollercoaster said...

Thinking of all of you!

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