Newborn Baby With Hereditary Spherocytosis: Looking For Support

My youngest daughter is 9weeks old. Her elder sister also has HS. Nobody else in our family has it. Both are sever cases. My eldest was diagnosed at 11months and had a splenectomy at age 3. HB never got over 6.8.
My newborn was diagnosed at 3weeks with a current HB of 4.9. She does not seem to be coping with it as well as her elder sister, sleeps ALOT, poor feeder, lost weight initially (has to have high calorie formula) and is still only slowly gaining weight. She is behind developmentally (not smiling yet) and also vomits a lot.
She had a blood transfusion a week ago, something her sister did not need to routinely have (she did have 2 emergency transfusions following anaemic crisis when she contracted glandular fever).
I am worried about her development being impeded by being so lethargic all the time and also wondered if the vomiting was associated with the condition.
Her sister did vomit a lot as a baby too but they always said it wasn't associated, but I notice that since the transfusion it has stopped?!
Specialj233 Specialj233
31-35
3 Responses Dec 6, 2012

Glad to give you and ear! :D I know I needed one...

I am in Canada - each time with the transfusing for my son, it was clear that he needed the intervention. He would get somewhat lethargic, sure, but his body's response tended towards tachycardia (alarming!) to meet his body's oxygen needs (slow down the body or speed up the heart...), plus his blood gases would start to get low enough to be labelled as "distress". We actually started on the transfusion track before we had an HS diagnosis, because it was clearly necessary. :(

I have to admit, if this had happened with our first child, we might not have had a second on our own (we would more likely have gone into the long processes of adoption to grow our family), just because this was so drawn out and stressful. But our firstborn showing no whisper of this made us optimistic. We also reasoned that if this came up again, we at least would know what we were getting into, it would be diagnosed and "watched with the correct/focused purpose" much more quickly, and it would make for an odd connection/cameraderie between the two afflicted siblings.

But knowing what you might be getting into and then doing it again does not equate to easy. This is difficult, stressful stuff. Add in that every experience is bound to be different, and the fact that your second daughter's presentation is so far looking more severe, and the stress goes right through the roof!

We knew we were gambling with no.3. We know we were lucky when it didn't show up. And this condition does seem very manageable once you get past certain developmental points and certain hurdles like splenectomy. We too were strongly encouraged and were trying to hold out as long as possible in the face of the surgery. We were very much on board with trying to hold off - simply for the sake of immune system building/development. It just got to a point where too many other contraindications (iron overload) were rearing their head and our son was going to either have to experience marked declines and dangers to his health, endure a lot of difficult interventions to maintain the status quo, or undergo surgery. There were lots of points where it seemed like all the choices were somehow bad, and our job was to try to choose the least harmful one. :(

I do feel for you - the newborn stage, when a non-HS baby would also be not so interactive and sleeping lots, etc, is the hardest to navigate in my opinion. Things that are perfectly normal in other contexts have to be questioned, and it's exhausting. Never mind that you are recovering postpartum as well, and the whole household getting used to the new routines.

Baby is sleeping a lot - is it too much? Is it okay? Are they breathing well? Faster rate? Too slow? Does the heartrate seem high? Low? Are they growing as they need to? Are they eating well/enough? They are crying - is that good? Is that distress? They are so quiet - is that okay? Is that distress? And on and on. And these are stresses that you really can't change other than to just keep monitoring as well as you can.

You are in the hardest stages right now. Things will get clearer as you go along! And medical professionals will be caring but frequently frustrating, lol! ;)

Wow, thanks dnan for your response and support. It has helped tremendously, I feel lifted, and listened to.
I have noticed since the transfusion last week that she is coming into her own, ever so slightly and subtlety showing us her personality. The transfusion has helped me bond with her as I finally feel I can get to know her and but the condition on the back-burner for a while. I am not sure if the transfusions will become a regular thing for her as I don't think they like to routinely transfuse in the UK as they do in the States. I know that from our experience with my eldest daughter who actually had both of her transfusions in America since we were on holiday there when she got Glandular Fever (mono) and they doctors were surprised she'd been left to 'cope' with a HB in the region of 5-6. But she did cope very well with it (as you said, kids can be very adaptable, more so than adults).
I guess the decision to transfuse again will depend on her HB in 2wks time when we next have bloodwork done and how she copes with the drop. The doctor suggested that she may necessarily become transfuse dependant as it this age it may just be that her bone marrow isn't quite mature enough for the folic acid to work to its full potential. I have been researching about the dangers/risks associated with becoming transfuse dependant (iron overload) which does not make pleasant reading. The youngest they like to do a spleenectomy over here is 3 years old.
I know from my eldest spleenectomy what you mean about energy levels being through the roof when they go from running a low HB to suddenly experiencing a healthily/ normal HB (literally running round the house screaming 'somebody stop me' - had no idea what to do with herself!). Was like she suddenly came alive!
Thanks again for your support, I appreciate the time you took to reply x

My newborn with no HS is the most spitty-up, vomiting child of my three. My middle child with HS was a very lethargic baby, and also took a long time to smile. He was a good feeder though, so that admittedly eased the stress. He did not vomit or spit up excessively.

It is possible that due to the anemia, and the struggles you are currently having with feeding, that your daughter will be a little behind on some developmental milestones. Just please keep in mind that these milestones have some wide ranges in some instances, and that they are quite idealized. With my son's severe presentation of HS, he did still tend to meet the milestones, but it became clear after a while that they were often quite remarkably associated with having recently had a transfusion.

With each transfusion, he would feel so much better - he would be almost impossible to handle for the first 48 hours after ("I FEEL GOOD! RAAAAWR!"), even while still a newborn. His energy was up *tremendously*, his smiles were more, he would figure out his hands better, then his rolling over, then his crawling, etc - in big jumps (sometimes HUGE jumps) soon after transfusions.

It is great that you are so aware and watching - these are things to bring up and draw attention to, since your new daughter doesn't have any other ways to communicate what is going on with herself other than her eating, her sleeping, (her diaper contents), her general mood and her developmental milestones. You really are her advocate - no one will be observing her and keeping tabs on things like you - no doctor, no nurse, no lab technician. They will all have patients moving in and out of their workdays, and they will be involved and caring people, but *you* are the constant. It is a very important thing to be for your daughter, and it can be stressful. You will receive every instruction (sometimes they will contradict each other!), every bit of advice (helpful or not), you will receive/hear every diagnosis/lab workup/test result... and you will take your daughter to every place she is supposed to go, while also juggling the needs of your older daughter and the rest of your family. Which includes *you*, by the way - do something, anything, to manage your own health/happiness/stress in all this.

Children really are remarkable in how "plastic" they are - they can bounce back surprisingly well from things that adults never could. You are doing the right thing in taking note of developmental milestones - try not to stress about being a small bit off them, but be constant in pointing them out and talking about them to the medical professionals. You can do this!