Another not-so-great doctor visit

Sigh..

In January of 2012 I sat in the ER room, waiting for the doctor to come in to see my son, again, and tell me why his oxygen level was low enough that he needed an oxygen mask to breathe. I held my baby as he slept, looking down at his sweet 3 month old face and wondered what could be the possible cause. The tears wouldn’t stop and the ones I didn’t catch in time dropped on his hospital gown. The quiet tears turned to very deep sobs. I prayed to God that it wasn’t something permanent. “Please, God, PLEASE, whatever it is, don’t let it be something permanent!” I BEGGED. Just sitting there, rocking him, begging out loud, praying and sobbing, that whatever was causing the repeated ER visits and now the oxygen mask would be just a blip in his timeline.

But it wasn’t. First we discovered he had PCP which is a very serious pneumonia, very rarely seen in babies, more often seen in patients with compromised immune systems caused by HIV. But why did a little cold progress into such a serious illness? After a series of blood tests, X-rays, MRI’s, scopes and biopsies, Bruton’s was the reason. And it is very permanent.

Yesterday we go for a regular follow-up at the immunologist’s office and I leave there with the doctors concerned that he has a speech delay. He is 16 months old and does not say  even one word. He makes “mama” and “dada” sounds but they are not directed at us. He doesn’t call us by our names. And he should be. I have a call in to early intervention for a speech evaluation but I am praying that it is nothing permanent. Again. I pray that it is just because his older sister is non-verbal so he is mimicking the only other kid that he’s really around right now and his words will soon be exploding from his mouth. 

There are so many layers to this traumatic doctor’s visit. Going through yet another thing with my son; having two kids with special needs; looking forward to the Italy I missed out on with my first kid and landing in Holland again. I can’t even form coherent phrases to everything in my brain right now.

Please, please, please don’t let this be permanent.

I want to hear “mommy” from one of my babies.

My Son-shine - A journey into the world of Primary Immunodeficiency Diseases

Today it is hitting me that I am part of another community I never asked to be in. My beautiful son-shine looks absolutely perfect but he is not. Not medically, anyway. He has Bruton's which is a Primary Immunodeficiency Disease (PIDD). I still have to look that up to make sure I’m writing it correctly. As of right now, half of his immune system is missing. His B-cells are pretty much non-existent which means his body does not produce antigens that fight off viruses and bacteria. What would be a slight cold to you and me could mean pneumonia to him.

It all started with feeding issues. He would be hungry but then would cry, arch, turn away from the bottle when I would try to feed him. There was a lot of spitting up & vomiting and a lot of feedings because he would take in so little each time that he would be hungry very soon. At first glance, the GI thought my 3 month old was suffering from reflux but when a change to his formula showed no improvement and there was a serious weight loss GI ordered us to the ER to make sure there were no obstructions or other internal issues. The ER doc noticed his breathing was kind of fast and x-rays were kind of cloudy but his lungs sounded so clear that pneumonia was not a thought in anybody’s head. Well, 2 ER visits, a 5-day stay in NICU, 2 more ER visits, another hospitalization that lasted a little over 3 weeks and yet another ER visit later we finally got the confirmed diagnosis of Bruton’s; or Agammaglobulinemia; or X-linked Ag; or BTK. They are all the same and half of them are not even recognized by my spell check. So here I am, a member of the primary immune deficiency community. Oh, Holland, why do you hunt me down while Italy evades me? 

So now I have to be my son’s nurse along with my daughter's. Every week he needs two infusions of a medicine that contains the antigens his body does not naturally produce. Yes, I have to stick him with a needle. Every week.
 

This will be a life-long issue for him. There is no cure as of yet.

2 kids. 2 chronic conditions.