Hereditary spherocytosis (abnormally shaped red cells)

So my Mother is the mutant. Not a sentence you can say often. She was the first diagnosed with Hereditary spherocytosis (abnormally shaped red cells) in our family that we can trace so therefore shes the mutant :-). Basically your red blood cells are shaped like donuts with concave both sides to hold things like iron and oxygen. Donuts yummy (really miss the ones in Ireland but that's another post).

Mine because of a defect on chromosome 8 doesn't have the protein block needed to hold it in shape (imagine a roof of jelly without some rafters to hold it in shape) so looks more like a sphere or as I like to imagine little rugby balls or American footballs. You can see here under microscope that one of these cells is not like the other.. cue sesame street song...

So you can inherit this from a parent and from what i read its common to Northern Europeans and one in every 5000 has it. Although I have to believe maybe its missed often as growing up the only ones I knew about it was my Mum, myself and my sister Orla. I called it Veras toastis as I couldn't say Hereditary spherocytosis. I have an Aunt Vera so easier for me to say. I remember as a child going to medical lectures as our doctor Prof Guiney of Royal College of Surgeons would ask his interns what we had as a case study and I would try and hint and say Veras Toastis and then be dismayed none of them got it..

So because your red blood cells can be shaped funny they get caught up in your spleen which has a big wave kind of vein going through it that takes dead platelets and abnormal cells away. As some of or all of your red blood cells are shaped funny the spleen goes into overdrive and takes too many so your red blood cells don't live as long and you get anemic and also on occasion very yellow as your bilirubin also increases. Spleen gets bigger and you get paler. In the past they just took out your spleen and you would still have odd shaped cells but wouldn't be anemic or as sick. Problem was that turns out spleen does a lot for us, especially with fighting flu's, pneumonia's and any virus that's encapsulated. Without it folks without spleens don't do too well against these viruses. So vaccines are very important and now if they don't have to take spleen out they wont.

Mostly I ignore the fact I have HS (Hereditary spherocytosis) , I just get my shots when needed and let doctors know so they understand why my platelet count is so super high on tests (no spleen to take out platlet trash you have more platelets floating around. I have a large scar on my tummy vertically where they took my spleen out when I was 5. And my gallbladder came out when I was 32 which it turns out is also common in folks with HS. Spleen is an organ under your tummy and holds extra blood for emergencies and is also involved with immune system and platelets. As you can see also looks pretty gross. This is a very very enlarged spleen from an adult whose spleen has gotten too large. Have to imagine mine was way smaller. No wonder I don't like liver to eat.

Its come back more to mind of late as since its autosomonal dominant (so your kids have 50% chance of having it) being pregnant means we have to be prepared. Thankfully its treatable and myself, Mam and Orla have all gone through it. That makes it a bit easier often harder to face what we don't know. Orlas two wee ones both have it so seeing first hand how they treat it now with folic acid supplements, they also had transfusions and also how they try and avoid spleenectomys at all (and now if they do them they take gallbladder out as well or partial spleenectomy). Orla knows a few locals who have it as well but that's in Ireland where as here in California I don't know anyone who does.

We saw a genetic counselor Kathy at our 13 week ultrasound (as I'm AMA another nice label for older mother first pregnancy) who very nicely gave us a recommendation for a pediatric haematologist. I figured better interviewing them now then later after baby is born when all is hectic so I can better be prepared. (Another time re rant on different previous genetic counselor Shannon who was probably the most useless person I have seen medically EVER)

She gave us the name of Dr Bertil Glader at Stanford Medical center and Lucille Packard Hospital. I called to make an appointment for later in pregnancy and by chance got his office at Stanford University where he teaches as well. Instead of having me come over the nice Doc spoke on the phone to me and discussed current treatments and later if the baby does have HS to call them so we can see them. It was a very very nice thing for him to do. He let me know his thoughts on treatments and said I should stop by for the handout from British Journal of Haematology for treatment of HS which Orla also recommended.

https://www.bloodmed.com/contentimage/guidelines/2121.pdf

So like I said - even though would be a bummer for Hobbit to have that its not worse and quite livable. Nobody wants to have their babies go through blood testing and surgery so fingers crossed we wont. Since a lot of babies have jaundice we have to wait a couple of days after birth to see if its baby jaundice or caused by HS. At least feel like we're a wee bit prepared in who to go to and also Doc gave me a good recommendation for a Ped Doc as well which was very appreciated.

Apart from that all is grand. The head cold that hopefully is on way out and it's had the added benefit or resting my pelvis so that's eased up a wee bit. Hobbit has made his jumping around more and more obvious. I feel like a human trampoline...

We go do a 20 week scan next week and a OB-GYN visit as well end of next week. 18 half weeks already - just flying by