Tag Archives: diagnosis

An open letter to my pediatrician pt 2

Let's take a minute to reflect on how well our day started (park trip)

Let’s take a minute to reflect on how well our day started (park trip)

A letter to my pediatrician after his explosive diagnosis:

Part 2: Getting the diagnosis

Dear Dr “I”;

Edit: If this tl;dr then know this: you effed up Dr. I, and I am not happy.

Dr I, Hopefully you read part 1, and so now you know that you walked into the room to face a very tired, over stimulated, cranky toddler (who was doing quite well for this) and his increasingly stressed, nervous mother. Strangely when you came in, you also looked quite distracted and worried, and not your usual ‘I have all the time in the world, your child is everything to me’ chilled self, although I appreciate that latter is a façade put on for the benefit of your patients.

With a distracted look, you turned your screen to me and started the usual litany of statistics: “Growth charts… Sam started here, and as you can see, he is still way off the chart. We’re looking at 6ft 4” still”.

I hate this part.

This is the part of the well-child check where you announce my child will be 6 ft 4 (AT LEAST!) when he grows up and wait for some reaction from me. Firstly: I don’t believe you, but time will tell. Secondly: what reaction do you want? Height is achieved, plainly through no skill of mine, my husband’s or my child’s. It’s not difficult as a middle class Ameri-Brit family to provide adequate nutrition to allow my kiddo to fulfil his genetic potential and so I really don’t feel I can take credit for this. Nor am I actually particularly over-joyed: I try not to focus on global beauty standards with my child because I would rather the world, as a whole, did not set general standards of beauty and hold people up to them: I’d much rather we more openly acknowledged that beauty is in the eye of the beholder and celebrated tall, short, fat, thin, middle, blonde, brunette, curly, straight… whatever. Sometimes, in response to my slightly panicked look you say “He’ll be a basketball player!” and while I appreciate that Sam is too young to be affected by these things now, I also am not into pushing him in any one life direction. So, while it is not particularly harmful, it doesn’t come easily to me to say ‘Yes! Because of his genetically determined height at 24 months old, I have decided exactly what will make him happy in his 20s”. Anyway… I am an over thinker and these are the things I think in the deafly awkward silence following exclamations about my son’s projected height.

He's a cutie

He’s a cutie

One day I’ll get it right. One day I’ll say something brilliant like “6ft 4? Fabulous, his life span will be shorter than if he were not tall”. Or maybe “That tall? Excellent, if medicine advances very quickly, and he is able to gestate his own children, he’ll be more likely to have twins“. And we’ll move on from this awkward conversation.

Sam's height 0-24 months

Sam’s height 0-24 months

But today, you barely paused at his 99th percentile + height. Or his weight (29.5 lbs), or how excellent his weight-for-height percentile is (70th). You looked haunted. You said “and that’s done”. And I said “No vaccines?” and you said “not this visit”, and when I saw ‘flu vaccine on your screen, you gave a long pause and said “maybe the ‘flu… if you want it…”.

And this is where we started to mentally part ways.

“Ummm… do I want it?” I aksed. Despite being militantly pro-vaccination, I was now alarmed by your hesitancy. “What do you recommend?”. You looked uncomfortable…

“It’s up to you”. Up to me? Aren’t doctors supposed to be full of the joys of vaccination? My damn OB would barely let me get out the door without a ‘flu fax (OB! What is obstetrical about that?!?). One of my performance criteria at work is having the ‘flu vaccination BEFORE Nov 1st (I work in a clinical environment – doctors everywhere). And here you were, hesitating…

Your hesitation threw me and I said “Ummm… I guess we won’t get it?”

“Good” you said and brusquely moved on.

I WOULD LIKE TO POINT OUT THAT YOU, MR ANTI-FLU VACCINATIONS, WHO TREATS HUNDREDS OF CHILDREN A WEEK, ARE CURENTLY OFF WORK WITH THE ‘FLU. Think about that.

He's pretty interactive

He’s pretty interactive

Back to my topic. You turned to Sam. “Can I have a hug?”. Sam paused. He looked at you. He thought about it. “Hug Dr I…” I gamely said (although I also don’t especially support making children be affectionate to people they don’t want to [bodily autonomy and all that] or to strangers [far scarier reasons]). Sam, dutifully, blessedly, went in for a hug and as he did he saw a jar of sticks about your head. He looked at me and pointed, but you deposited him on the ground and shook your head.

He can love cuddles

He can love cuddles

You asked Sam how he was. You asked him what he had been up to. Actually, so that I could take a ‘phone call about how my MRI showed that my brain is inflamed (don’t even go there Dr. I) and my sinuses all screwed up, he had been watching an episode of Thomas Train. So, he told you about it “Thomas got stuck on the bridge!” he said (although it sounds more like ‘Tos stuck on the widge” – that’s what you might remember). You didn’t reply. I imagine this was perplexing to Sam, who repeated it. You didn’t reply. He said it again, and then Sam supplied the answer you are supposed to give “Oh dear!” he said ‘What happened?”. Your response?

“Sam, can I look in your eyes?”.

How is this even appropriate?? Acknowledge the damn Thomas story. Lawd knows I do it at least 100 times a day.

You seemed to want to put him on the bed, and I gestured that that was fine, but something was up, I don’t know what, and you took hm off the bed and plunked him on my lap. You shone your little light thing at him and looked in one ear, then said ‘Sam, look at me’ and when he didn’t, moved the light to his other ear.

And then you were done. And you were packing up and mumbling something about his language not being very good for his age. And secretly? I was almost a little pleased because I have been saying for over a year that Sam is not very good at langauage – he learns it, eventually, but way slower than other kids. He got his first word quite early, but then he never had the ‘explosion’ other kids go through. He knows his alphabet, the knows his numbers, he can communicate what he wants, but his language is not great. I have been pointing this out, for over 12 months, and everyone has been shushing me. And honestly, in that moment, all I could think was ‘HA! Now I can tell Wes that I was right and we need to work a little more at Sam’s speech’.

Daddy cuddles

Daddy cuddles

You left the room.

I started the laborious task of packing up 26 alphabet cards that Sam really wanted to call out both the letter and a word starting with that letter for each one. Sigh. Half way through this, you came back in the room.

“I don’t think I was clear with you”

“Ummm… OK?”

“Your child’s language is not as it should be”

“Yes, I know, I have been saying this for a while… I am wondering what we can do to help it come along” I said.

“No, you are not listening to me… your son has a problem…”

and while I remember nearly all of the visit up to this point with crystal clarity, everything became a blur from here. Here are the snatches of conversation I do remember. You saying “His speech is repetitive, and it is out of place” and ‘We call it echolalia”.

You said “I can’t get him to look me in the eye” and I remember saying that I was pretty sure he looked me in the eye and you – you who sees my son for 5 minutes every 6 months – had the audacity to shake your head.

And then you broke my heart a little bit when you said:

“The things you think are cute – are a problem”.

Not "a problem" - he is actually cute

Not “a problem” – he is actually cute

I remember you repeatedly saying to me, in this stupid grave voice “I need to be clear here”.  I remember you getting frustrated that I wasn’t doing – I don’t know what – throwing my hands up in the air and weeping? Because honestly I was thinking “OK, so Sam has some language delay, Sam has some social problems, that’s fine, we’re all different – I love my son! If he needs help, we’ll get it, and if this is just him, this is him, and we’ll love him! We are so blessed to have him”. This is what I was thinking as you started saying, in a voice I would personally reserve for a potentially fatal illness:

“I want to refer him to the autism clinic” and I was trying to get some calm here, and some perspective. And I told you that I was fully aware that Sam had some language delays and that this converstaion was not a huge shock to me, because I am a trained Developmental Psychologist, and I knew langauage delay was a sign of ASD and so I had looked out for this for months, and I really didn’t see it (ME! HIS MOTHER – yes, mothers can be wrong, but please give my feelings / intutition / experience some credibility, or some acknowledgment). And you said “No, he is on the spectrum. He is clearly high-functioning, but on the spectrum”. And I immediately thought ‘well… we are all on the spectrum – that’s why it is a damn spectrum, but OK, I don’t really believe you, but if this the case then fine, we love our kiddo and I see no reason to think that he won’t always be as great as he is now…”

He's an insanely happy kid - that's all that really matters to us

He’s an insanely happy kid – that’s all that really matters to us

And when I conveyed this to you, it clearly bothered you (or maybe you were grumpy because you had the ‘start of the flu) because you started to talk about ‘regressions’ and ‘not using language at all’ and his words ‘disappearing’ and then I got scared. I love my son as he is now – I am not prepared for him to change. I do remember clearly trying to back you up. I remember saying “hang on, he has a father who is a self-confessed loner and a mother with intense, almost pathological social anxiety – I am a behavior geneticist, he has not had a great start!”. And that is when you took all my suggestions, all my reasons, all my attempts to calm everything the F down and you looked me straight in the eye and you said:

“Let me be clear. Your son is atypical”.

And I was shocked. And upset. And confused. And disbelieving. And you said “I am not using the big A word yet, but he IS on the spectrum, and he will regress”.

Funnily enough, at this point Sam decided to run up and hug your leg and you looked at me and said “He is a really sweet boy though” and I was thinking ‘Though? THOUGH? He is a really sweet boy, end of’.  I said “OK, so what can we do?” and we mentally really parted ways when you said:

“Look for the regression and call me”.

And then you left. I went to the car. And I texted my friend Sheryl to see if I could go and see her, and I cried. And cried. And cried.

Let’s be clear – my son is pretty behind in his language development. We are getting him a formal assessment – and would be delighted to particiate in any prescribed intervention. Or just delighted to let Sam be Sam and focus more on his other strengths. BUT, given that he is 24 months old, that he has a more limited environment than most other toddlers, that you remarked on his broad vocabulary, and that he is very slowly starting to put words together [‘car is white’ or ‘ladybug on nose’], I suspect it is too early to know if this is truly a developmental delay, or if he is just the tail end of normal. However, even if my son was showing early signs of ASD (he was not) or not, this is what I really want to tell you.

Here are the ways you momumentally messed up (and let’s not even go into being hesitant to give my son a vaccine that could save his life):

(1) You never, once, asked if I was the primary caregiver, or how much time I spent with my child;

(2) You mistook a screener for a diagnostic tool;

(3) You didn’t administer the screener properly, in that you never checked I understood the questions (I didn’t);

(4) You made the classic error of forming an opinion before seeing the child, and going for confirmation, rather than taking an open view, and being as objective as possible; You would do well to read and understand Rosenhan’s classic 1973 article “On Being Sane in Insane Places” (or tl;dr? Here is the wiki link which explains the problem of assessing someone you have already labelled);

(5) You made no attempt to get to know the child and get him comfortable in his environment before performing an assessment of his normal behavior;

(6) You didn’t listen to his mother / father – the main informants with diagnoses at this age;

(7) You mistook ‘at increased risk’ for ‘definitely on the spectrum’;

(8) You were utterly reactive [‘just wait for the regression and call me’] and not proactive [hey – how about some language intervention? Social stimulation? Let’s see what we can do)]

(9) Most egregious of all (I think, it’s a toss-up with 8) you treated ASD like it was the worst thing in the world – I couldn’t understand why I was so upset in the car, I kept saying ‘pull youself together Lekki, it’s not like he has pediatric cancer ffs’ but it was your tone, your gravity, your attitude that it was all downhill from here. Your lack of reassurance, your “he is a sweet boy though”. I am not naive – as a class teacher in a special needs school I have worked with the full spectrum of ASD. Children with ASD are still children, they still have a lot of offer, they can still be a joy. When you said “what you think is cute, is a problem” is NOT the case. What I think is cute in Sam, is cute. He is a darn cute kid. It may also signal a developmental difference – but he is still cute.

family

Why am I making such a big deal of this? Soon, I will get around to writing part 3: the aftermath. But it has been a really a hard week. It is really hard to have someone tell you there is something wrong with your child. It is really hard to have someone imply blame, and to tell you that there is nothing that can be done. It is harder still to be told that things will change – that you will lose the child you love so much to a ‘regression’. My friend Craig put it best: “There are some things you can’t unhear”. Whatever I think of your (mis)diagnosis you have cast a shadow over the next year. We are constantly questioning ourselves, questioning Sam, wondering what will happen. I am questioning my whole parenting philosophy (probably best summed up as ‘unparenting with lots of cuddles’). Wes is questioning his ability to look after his son. We are both genuinely quite shocked that anyone thinks of Sam as anything less than wonderful. Different – sure. But different isn’t bad. I feel so protective over my son.

This could all have been so different. You could have said “Hey, there are some things I would like to keep an eye on. Let’s get someone out to check Sam is hitting all the targets we expect. He could be a little more sociable, and better at language at this stage, and I just want to make sure we are giving him the chance to fulfil his potential”. Or whatever. We can discuss what should have been done in part 3, when kind people actually did things properly.

Ugh. I am still so up and down about all this.

 

And iiiiiiiitttttt’sssss…..

…. Von Willebrand’s Disease. Type 1.

IMG_0547

Rewind. I was sitting in a hematologist’s office hearing the words ‘You’ve been dicing with death your whole life’. Wait. More information needed. Rewind further.

Birth did not go quite as planned. Actually the birth did – the postpartum period did not. My amazingly skilled OB (we still love Dr. Dryden to pieces, even if she isn’t Dr. Boswell) was torn, she wanted to be believe it was ‘just bad luck’ but could not believe that such extensive loss of blood could not be pathological, so sent me for a battery of tests. ‘On the off chance’. ‘Just In Case’. ‘To tick every box’.  8 vials of blood later (chance of a false positive anyone?) the results were in: they were suggestive of Von Willebrands, a condition where you either don’t produce enough Von Willebrand factor (a factor than carries factor 8, which is necessary for effective clotting) or where you don’t have any (I had some), or where you Von Willebrand’s was there, but it was’t very effective and so can’t recruit platelets into the clotting site.

ICU machines

Dear Tecas Children’s: Thanks for the blood. Love Lekki x

I now know far more about how blood clots than I am comfortable with.

So, off I went to Dr. Kelty Baker, who has an amazing reputation. And indeed – she was wonderful. Smart, funny, fascinated by hematological conditions and motivated to cure me. Unfortunately, her nurse wasn’t. This was the nurse who walked into the exam room where I was waiting, took my blood pressure and shoved a thermometer in my mouth, took reading and walked out, all without a single word. Lovely. Just lovely.

Dr. Baker felt it was Von Willebrand’s and asked if I minded having a genetic test to confirm. Me? A geneticist – mind? I’m positively enthusiastic. So we made a plan – I would have a genetic test done. This had to be done in Wisconsin for some reason (even though Baylor, just across the road, does this test). I would also (because we don’t know the full mutations contributing to Von Willebrand’s) have had some tests done which looked at whether the little Von Willebrand factor that I did have actually worked (the blood tests were borderline). Aaaaand, because of the fact that regardless of the cause, we would have to treat the fact that I did not have enough Von Willebrands, we would do a challenge to see if I responded to a drug (DDAVP) designed to increase Von Willebrand factor. All good. I agreed. She said that these non-genetic tests were only done in a field by a fairy under the full moon & I even agreed to this. OK, they were only done heinously early in Methodist hospital on Tuesdays and Fridays but that is basically the same thing.

Guinea pig at the ready

Guinea pig at the ready

Then we entered the vagaries of the American Healthcare System.

My insurance company said that Wisconsin was ‘out of network’ so I would in essence be responsible for the full cost, minus a teeny-tiny co-pay. Knowing that genetic tests can run into 1000s, I HAD to find out the cost. My insurance company also said that I should find out the name of the tests done at Methodist, to check that they were covered – or again, I’d be liable for the full cost as Methodist is not quite in network but some facilities are. It was complicated, but I called Dr. Baker’s office to get the name of all the tests – genetic and otherwise – to report back to my insurance company. And there I encountered the lovely nurse again. And problems ensued.

The nurse told me that Dr. Baker had ordered the following tests:

Platelet aggregation Panel ($256)

Risocetin co-factor ($184) and

Von Willebrand’s Antigen ($178)

I told the nurse that these were not genetic tests so at least one was missing, and furthermore that I had had already had these tests done for free in-network at Texas Children’s Hospital, so would she explain why they now had to go out-of-network. All she would say is ‘shall I tell Dr. Baker you won’t pay for these tests?’ over and over. Whatever I asked, she came back to that.

Me: ‘Are you sure these are the tests?’ Evil-face: ‘Are you going to pay for these tests?’.

Me: ‘ICould you ask Dr. Baker if I could have the tests done in network?’ Evil-face ‘You have to have these tests where we say. Can I tell Dr. Baker you will pay for these tests or not?’.

Me: ‘There is not a genetic test here – why not?’ Evil-face: ‘Look, are you going to pay for these tests or not?’.

Me: ‘I have test results for these. TWICE! I can read them to you’. Evil-face: ‘You have to have these tests. Can I tell Dr. Baker you will pay for these tests or not?’.

Eventually I had to say ‘well, no, I won’t pay for tests where the cost can’t be justified’ and she hung up and I never heard from the clinic again, until they wrote to my OB and sent me a copy saying that I couldn’t afford medical care and that they would help me when I came to give birth next, if needed.

NOT AWESOME.

So, I transferred care to Dr. Mark Udden. First up: his nurse treated me like a human – you know: told me her name, warned me before jabbing things into my mouth… things of that nature. The junior doctor was nice – he had a daughter born 5 days before Sam and had lived in Lewisham (the site of my London flat). OK, so not medical-care necessities, but a good sign nonetheless.

Dr Udden wears bright bow-ties. Awesome.

Dr Udden wears bright bow-ties. Awesome.

Dr. Udden was the best of all – he was practical and smart. He laid it down: I don’t have enough Von Willebrand factor. Although Type 0 blood naturally has less Von Willebrand factor, he would expect Type 0 to have levels at about 50-60% less than non-Type O, and I was at 32-34%. He suspected that my Von Willebrand’s was working fine, the borderline reduced activity in my tests was just indicative of not having enough. Genetics were fun, he said, but we were still going to have to treat the lack of Von Willebrands so why spend the money? So, I am off for a DDAVP challenge test to see if I respond to DVAPP by making more Von Willebrand’s factor. We assume I will. So from there on, they will check my Von Willebrand levels before giving birth next time, and give me an infusion of the factor while pushing. If I go for minor surgery, I will take DDAVP. If I go into hospital for an emergency: more DDAVP, infusions of the factor if extensive surgery is needed, or I am smashed to bits in a car accident or something.

I objected to all this drug talk. I pointed out that I had got this far and been just fine. Turns out hormonal contraceptive artificially increases Von Willebrand and I have been on those since I was 13 (due to heavy periods – another sign of Von Willebrand) so it had been masking any symptoms. Plus I had avoided any surgery except while pregnant (when I had dental surgery), and pregnancy is a time when you also produce more Von Willebrand, so I made it out without crazy bleeding. Lots of lucky co-incidences have got me thus far in life without incidence. Hence my ‘I am not sure I really need to do anything about this’ was met with ‘You’ve basically been dicing with death your whole life’.

Fair enough.

Unfortunately it is a heritable condition, and so we have to get Sam tested. But, my case is so mild, it is likely I am a heterozygote, meaning that Sam only has a 50% chance of contracting the disorder. And if he is not blood type O, he probably will be OK.

And I have to have my IUD out. The extra bleeding that goes with IUD and non-clotting blood is just a bad combo. It is true that things are pretty bad on that front, like today is Day 6 of my period and I still can’t get through the night without a horror show, but as I am allergic to latex and have a bad reaction to hormones, I was sticking it out. I am a bit stuck about what we will do now. Sam no. 2 anyone? 😉