It's done

I emailed the geneticist more than a week ago that we're ready to do whatever test she proposes. It wasn't an easy decision. She said she first wants to exclude VCFS (deletion on the 22nd chromosome), because there's just too much doubt and wondering going on with all the specialists and us. Once it's excluded, we need to go see her, so I guess then she'll decide what's next.

Of course, if it's positive, we'll also go and see her. To find a way forward from there. It's difficult to think that all might be over in 3 week's time. 5 Months of stressing, of wondering if Boeboe has VCFS. 5 Long months. I mentioned on here before, I'm very good at chasing the diagnosis. I don't find it easy, or enjoyable at all. But, I'm good at it. I should've been a researcher. But once I get it, I want to backtrack. I'm not sure if I want this diagnosis. Yes, I want answers. Yes, I need help with my children's medical and scholastic needs. But VCFS? I don't want that. I so don't want that.

I just want someone to wave their magic wand, and turn Boeboe into a perfectly normal, healthy little girl. I want someone to fix her. Not diagnose her with an incurable defect that runs through every cell of her body.

The geneticist proposed the FISH test. So yesterday, I took Boeboe directly after school. The nurses didn't know what to do, they've never done or heard of the FISH test before. They phoned the hospital (which I should say, is one of SA's largest and best!) and even there the lab wasn't sure. Geesh. I thought it a little more common than this?? Anyway, in the end she spoke to the genetic people in the pathology lab themselves, and they told her what they needed.

Boeboe was good as gold!! Such a faaar cry from November's blood tests. I think the past 6 months we went so on and on ad nauseam about how great Monkeyman is with drawing blood. We bragged to every family member, I guess right in front of Boeboe. It made her want to be as brave as he was. So she went inside without digging her heels in. She sat on the chair and gave them her arm. Then she started crying and stressing, and when the needle went in, she started screaming. But, she sat still. So it was so much easier than last. I was SO proud of my little girl. Of how far she's come. I'm sure the medication she's on, has helped LOADS as well. Even she mentioned it afterwards.

After that we came home where I applied some numbing cream on all 3 children's arms (not Mr N). And off we went to the clinic. I had to try and ward off the wrath of the clinic nurse who couldn't understand (and didn't even want to listen to any explanation) on why Boeboe is 4 years late with her booster for Tetanus and Diptheria, and why Peanut so far still haven't gotten a measles injection, and why I can't pay for all the boosters of the x-tra private injections (would've cost me about R3000, or $300). Grrrr. She also wanted to convince me to give Monkeyman more injections than what the pead asked for, and I told her please no, I just want to follow the peads instructions to the letter. I'd rather bring him again to do an MMR booster after everything settles down again. She thought me over cautious and clearly wrong to not cover them for EVERYTHING just then and there. Gosh, their poor poor bodies. You should've seen the list of what Peanut got. She got 3 injections, coverine nine diseases (of which one had 23 strains!!). In one sitting. And she still wanted me to add another 3 diseases. I told her it's all too much!! And she just rejected that.

I let her do Peanut's first, and it was as horrific as it always is, for every mom, taking her baby for vaccinations. Peanut cried, especially with the 3rd and last injection. My heart just broke. Then Boeboe jumped on the table, begging to be 2nd, to "get this over with"! Wow. Impressive. She sat still, squeezed my had and was just fine. Wow. Wow. Wow. So not what I expected. She asked me at some point earlier today why I've left her 6-year old vaccination until she was 10, and that if I didn't, it would've been over with already. I felt guilty, but there is absolutely NO way it would've been like this. She would've kicked and screamed the place down 3 years ago. Even 2 years ago. Up until last year probably. She just didn't have the control and understanding and maturity that she has now, with the medication helping her stay calm, handle the situation even though she was scared, and keep her behaviour in check in a social setting, like it's expected from a child of 10. Amazing. And thank goodness, because at that point, I was trying to comfot a screaming, upset, crying Peanut, and had to encourage Boeboe, hold her hand and talk her through it. The darn nurse couldn't even give me 2 min to first tend to Peanut, before she started on Boeboe. Grrr.

So then, lastly, it was Monkeyman. He jumped on, laughed at the nurse, didn't even blink with the first injection, and just said one "ouch" on the 2nd. My brave little boy. He makes it so easy on him and me. I'm sure that the numbing cream also helped. So at home, they got to choose a little toy out of the closet where I have a small stash for such events, and everything was forgotten. Except for poor Peanut that had difficulty sleeping, because every time she rolled over onto her shoulder, she cried or mumbled in pain in her sleep. In the end I gave her some pain meds, and slept with her.

So, back to the VCFS test. I'm so glad we've done it. I'm relieved. It's like a weight off my shoulders. It's out of my hands. Whether I think she has it or not, whether I research it or not, whether I look at her and wonder if she has it or not, nothing makes any difference any more. It's out of my hands now. It's not my responsibility anymore. It's tested, we will get an answer. In 2 weeks' time.

The geneticist said in her email, that Monkeyman's low lymphocytes could be because of a deletion of the 22nd chromosome as well. As I knew, from my own research. But hearing her say that, and that we should consider testing him as well, wasn't exactly easy to hear. My logic tells me that 2 children in one family with so many issues, must have a single underlying cause. But to even for a second, think that Monkeyman could have this as well.... I just simply cannot even begin to do that, not at the moment.

I told my husband a few days ago... if someone asked me now if I believe Boeboe has VCFS, I'd probably answer: "Yes, I think chances are high, though I'm more inclined to think it is 16p11.2 duplication.". If someone asked me directly after that if I believe Monkeyman has VCFS, I probably would answer: "No, I don't believe so. He just doesn't have enough signs. He's too intelligent and his speech was too advanced as a baby."

But, if the FISH test turns out that Boeboe does indeed have VCFS, and you ask me then, does Monkeyman has VCFS as well? My answer would most likely change to: "Yes, I believe chances are high."

With Boeboe, I've kinda always knew there was something. We've had years and years of struggle with her. It fits in that there's something. But Monkeyman. He's such a normal, happy, sweet little boy. He's not hyperactive (the opposite rather, sigh), he's really advanced in maths and age appropriate schoolwork. He has always been very advanced. Could say "r" when he was about 18 months old! Before age 2, he could name all his colours, recognise some letters and words, and played golf like a 5-year old. Age 3 he could add 2 single-digit numbers together. He just didn't have any major issues. Very few tantrums. No big upsets. No aggresiveness. No behavioural difficulties. No major birth defects. The only things I ever really struggled with him, was the tiredness, his extreme shyness and social difficulties and separation anxiety, and his legpains. Apart from what expired the past year, of course. The obstructive sleep apnea, the pulmonary hypertension, heart palpitations, jaw growth problems, etc.

OK, called out like that, it sounds a little more than what the average 6-year old has to deal with. Still, I just don't feel like he has VCFS. Unfortunately, the low lymphocytes is really a bit of a worry, so I get why the geneticist would say we need to think about testing him as well.

Let me quickly explain. There's a number of possible causes for low lymphocytes, falling into one of these sub-groups.

Acquired Causes

• infectious diseases, for example HIV, TB, Hepatitis, etc. (I'm pretty sure Monkeyman doesn't have any of these. He has none of the necessary symptoms or profiles in his blood.)
• autoimmune disorders (This might be a possibility. He's been tested for two markers, and both were negative. It doesn't exclude all autoimmune disorders, but it does make it less likely.)
• steroid therapy (He's not and hasn't been on steroid therapy for years.)
• blood cancers and blood diseases (The pead said he does not have the profile for one of these in his full white blood count. I'm not sure if it excludes all possibilities, but from my little knowledge, I just can't see him being that ill?!)
• radiation/chemotherapy (He hasn't ever received any of these.)

Inherited Causes (due to defective genes)

• DiGeorge anomaly (VCFS with low lymphocytes) (The most logical cause.)
• Wiskott-Aldrich syndrome (He just doesn't have enough of the signs, like trombocytopenia, bloody diahhrea, etc. Also, his IgM, IgA and IgE would've probably shown the profile. His didn't.)
• Severe combined immunodeficiency syndrome (He's just not nearly ill enough for this! This is the "bubble-boy" effect. They have practically non-existing immune systems.)
• Ataxia-telangiectasia (He has absolutely no problems with coordinating his movements. He has extremely good hand-eye-coordination, run and walk normally, can kick a ball accurately while running. And he has passed the age where this is usually diagnosed, or at the least, become apparent in the child.)
  

So looking at the possible causes, there's only 2 that stands out for me as possibilities. An autoimmune disorder, and DiGeorge (aka VCFS). So it makes complete sense why we'll need to think about Monkeyman having VCFS as well. But for now, I'm not ready to face it, or entertain it as a likely cause.

At this point, I think Boeboe's VCFS test will be negative. And then I'm going to ask the geneticist about 16p11.2 duplication. As a 2nd option, 22q11.2 duplication. Those 2 fit all my children much better. In fact, 16p duplication fits them like a glove. Not that I think Monkeyman specifically has a genetic defect, like a microdeletion of -duplication. Boeboe - yes, I do. Monkeyman - no, I don't. But, let's take it one step at a time, and see what Boeboe's FISH test reveals.