We have a diagnosis

On Monday Shawn and I took Oliver down for what we thought was just a clinic visit to have his bone marrow biopsy and aspirate. When they did labs his hemaglobin came back at 5.9 so they decided to give him a blood transfusion first. They didn't want to cause more stress and harm to his body and especially his heart by doing the biopsy first so we waited and waited for his blood transfusion still with the hopes of them doing the biopsy later in the day. He was supposed to have the biopsy done at 11:00 so he couldn't eat anything after 6am. Finally after 1:00pm, and walking laps around the clinic to calm him due to being starving, they let us feed him because they weren't going to do the biopsy since the transfusion would take 3 hours and they hadn't even started it yet. At that point they gave us the option of being admitted or going home and coming back the next day for the biopsy. We opted to be admitted so we wouldn't have to go though the whole process and waiting game again and knew if we were admitted it would be a scheduled time and we wouldn't have to wait. Shawn had to go home because he doesn't have any vacation time the way it is anymore and can't be taking more days off so I stayed with Oliver and my dad would come pick us up Tuesday.

So Oliver received 35ml of blood of Monday afternoon/evening on the pediatric unit at UIHC. After about 31ml had gone in he started developing red splotches and a rash covering his face, neck and upper torso. I alerted the nurse because this looked like a transfusion reaction to me. And, it turns out it was. Crazy that in all my experience giving blood in my career, I've never had anyone have a reaction and now it had to happen to my son. They gave him benadryl and tylenol before the transfusion so they couldn't give him more yet and he was very irritable and we think probably itchy but they wouldn't give him anything. So, once again we paced around the halls on the peds floor since that seemed the only way he was content. Let's just say it was a very long night and both he and I didn't not get a lot of sleep.

They did do the bone marrow biopsy and aspirate at about 8:45 (only 15 minutes late- much better than the 2-3 hour waiting game we played the day before.) After giving him some meds to make him sleepy, they did the procedure and it only lasted 20 minutes. The doctor said he did great and they got a good sample. They also did another CBC and his hemaglobin had come up to 10.1 after the infusion. Many hours later the hematologists came to me with a preliminary diagnosis. Oliver has congenital dyserythropoietic anemia -CDA. So to break it down for you, his bone marrow is producing red blood cells but they are deformed. The hemaglobin is still doing its job and carrying oxygen around on the cells to the body but since they are deformed, they die quickly before more can mature enough to function. This is a very rare disease with only around 30 people in the US having it now and Oliver is only the 3 case the U of I has seen since it has been around. Since it is so rare, there aren't a lot of studies or research that has been done on it so what they know for sure is that there are 3 types of this anemia and our Dr. thinks he has type 2 but won't know for sure until more testing is done. They are still testing the bone marrow now for genetic and serology type things and I should know the final answer later this week.

So, how do we treat it? For now he will have a CBC (it will tell us his hemaglobin) weekly and if it gets below 8 he will need a blood transfusion. We don't have to go to Iowa City for this, he can get the blood work done in Elkader and the transfusions in Dubuque. He may need a blood transfusion at least once a month but that comes with consequences as well. See when you give blood you also give a lot of iron too mixed in with the blood. Since there isn't a way to filter it out when it is donated he will receive too much and not be able to get rid of it. The iron builds up in people's spleens so eventually he will have to have that removed when it gets enlarged. They are hoping that he will be able to keep it until at least he is age 2 because it is important for infants and toddlers to have it to help with your immune system. I did also ask about a bone marrow transplant and they said that it is an option that may come down the road but not now. So we've started a new initiative as a family to donate blood. We ask that if your are able and willing and you see that a donation site is coming to donate and think that is some sort of way you could indirectly be helping Oliver. He may need a lot of transfusions in his life and we're thankful for those who have donated already to help him.

We go back to Iowa City in 2 weeks to follow up again and do more testing to see which type of CDA he has and he may get a transfusion again. Since he did have a transfusion reaction, the donor blood will need to be tested to a greater extent so it doesn't happen again. On the upside, he is growing and is now 7 lbs 12 oz and 20 inches long. We go see his pediatrician in Dubuque on Friday for his 2 month check-up and get his shots. The hematologists say to treat him like a normal baby but just been observant for signs that his hemaglobin is low. So that is what we'll do, we'll spoil him like crazy and get through this the best we can. At least we know what we're dealing with now. Since the blood transfusion on Monday we can even see a change in him. He now "plays" by laying on the floor or in his crib and kicks and "talks"/coos. He even slept 6 hours straight last night!