Titanium Stimulation

This site has been sleeping for a very long time. Since my last PKU post I have had 4 major hip surgeries, 9 titanium screws installed, 2 extended hospital stays, 6 months off work and 6  months of full time French language training.

That is just me personally. Both my kids needed some extra attention for the last year or so to help ensure they can do the best they can in school and other activities. Both do competitive sports from September to June, and soccer in the spring and summer and my son does Spring hockey. My husband helps coach 3 hockey teams and works full time.

Right now I seem to have most things balanced pretty well. Surgery recovery is done. I’m in class full time and chauffeuring kids almost daily.

French training has been difficult for me. I don’t recall if I mentioned before but I have ADHD as well as PKU. I don’t feel, in my case at least that the ADHD was caused by PKU. When I was very young my diet was very well controlled and I still demonstrated all the symptoms of the disorder. As an adult, spending all day in a small class room being exposed to a bunch of information in a second language my crazy busy brain was having a hard time focusing on the course material and really taking in the lessons.

I did class for about 2 months before I decided that something needed to change. I saw my family doctor and we decided that I would try Adderall (a stimulant medication) in order to help me cope with full time classes.

I feel that it has helped me a great deal in the last 3 months in class and overall with general fatigue which is something I had a huge issue with previously.

However one of the regular side effects: appetite suppression, has made my PKU and my diet overall a lot more complicated.

In the last 3 months I have lost about 23 pound. While I had some weight to spare after month of time spent recovering multiple times I knew that generally my new normal of eating 1-2 times a day and consuming 700-900 calories was not going to be sustainable long term.

Around Christmas I contacted my PKU dietician at the Children’s Hospital of Eastern Ontario and explained that I needed help coming up with a new plan with some new complicated factors to consider.

I’ve used a bunch of different options lately and before the Adderall I was still using PHEBloc the LNAA therapy and trying to each enough protein to fulfill my requirements. I had been using Shakeology and pasta, rice and cheese as my staples every day. Since the Adderall it had been one or the other with not enough natural protein to provide the nurturance expected.

The dietician had some great ideas for high PHE low volume foods to try to add to my diet to make up the difference day to day. The idea of eating some of these foods was still unappealing to me.

I have ordered some PKU metabolic formula options and I am going to try to concoct some sort of plan to meet my requirements. I will send some food records to the dietician. Do a blood level (which will be high with the LNAA therapy anyway) and eventually do a complete CBC to check other vitamins and minerals.

My last phe level was around 1400 micromoles/litre

The Tragic Hip – The count down is on!


Up until recently whenever my upcoming surgeries were discussed it seemed like some big larger than life thing that was conceptual and not really happening. Last week shit became real. Early on after my consult with my new hip surgeon, a fantastic doctor here in Ottawa named Geoff Wilkin, I was very active contacting his office, asking to be on a cancelation list and following up with them every 2 weeks to hear if I had a surgery date. A few weeks ago I decided to slow things down and just let them happen. 2 weeks ago I started making plans for work I needed to do in the early summer assuming that my procedure wouldn’t happen until July or August. Essentially as soon as I accepted the fact that I would not be having surgery I get an email notification pop up on my phone from my surgeon’s office offering me a date of May 25th. Only a month away.

My brain goes into overdrive and I have barely slept as I am constantly thinking of all the things that I need to do before surgery, our puppy needs to be fixed, my family needs eye appointments, L needs an orthodontics appointment. Just when I think that is all my phone starts ringing off the hook: pre-op CT scan, pre-op appointment.

On top of all of this work is crazy busy I just got a new boss and I just hired a new employee. Perfect time to go on “vacation” for 2 months. Top this all off with the fact that L and H start soccer 4 nights a week at the end of the month!

I am hoping to manage some stress by writing, especially since we will be doing this all again within the next year.

Today was my CT scan. Thankfully no contrast and it went quickly. With everything going on I let my work parking permit expire and not have to walk a few blocks from where I parked my car to get to the office.

Right now I am on pain meds pretty much constantly daily. I don’t use crutches often though they would probably help.  I have Mobilegs. I bought them for almost 400$ before my scope labrum repair in December. After figuring out how to use cycling gloves to help the pain in my hands. For anyone needing crutches multiple times or long term I highly recommend them.

As I said, things are starting to get real. I need to decide how much daycare and when I need it for the kids while having no idea how my recovery is going to be. I guess at the moment that is the least of my issues.

More updates to come.

Tragic hip – 3 days in

So now it is Thursday. I had planned to try to write a new post every day but there isn’t a lot of new and exciting things going on every day that would fill a blog page.

We had originally planned that I would be living in a big lazyboy chair however I wanted to just try staying in bed if I could and honestly it has been pretty comfortable. I have a couple of pillows behind me to prop my up and one under my knee as well.

During the day I spend several hours hooked up to the cold therapy machine.  I am surprised how cool and nice it feels on my leg and the compression feels nice. If I at the very least have one more surgery ahead of me I am happy that we decided to buy the machine.

I haven’t been getting up and around very much. I know that I am not supposed to try to dead lift my leg (which is fine as I can’t anyway) and I am supposed to put down 50% of my weight when I walk with the crutches. I noticed yesterday and today that when I put weight on my op side that I get very sharp pains in particular spots under my bandages.

I guess with the freezing and anesthetic gone the pain is much more prominent.  The recovery protocol given by the surgeon doesn’t mention starting the stationary bike until after physio starts and I don’t have my first appointment until next Wednesday.

Overnight last night was alright. With pillows I was able to actually lay on my side a bit which was much more comfortable for my back.The kids spent the night at home last night for the first time since surgery as well.

I am trying not to look too much into the other type of surgery that may be required due to the dysplasia that the doctor mentioned before the surgery. Hopefully he can give me more information about that at the post-op appointment

Tragic hip

Sorry to disappoint but there is no PKU life right no only the hip. 

For those that don’t know I have to have surgeries on both of my hips and my first one was yesterday. 

We had to drive to a hospital about 2 hours away for 9 am. There was a lot of waiting before being called after getting changed into my snazzy blue gowns (how did they know it was my favourite colour?)

I had to wait for an hour and a half watching canadas worst driver and some psychic show. I made friends with a nice lady getting her gallbladder removed. 

I got called in to the hallway where I met a nurse, then the surgeon then the dr that puts you to sleep (I’m on dilaudid I don’t remember the word)

I didn’t get called in until 45 minutes after I should have. Laid down on the table and hooked up to all the monitors. Then the anesthesiologist (ha remembered) tried twice to get an IV in my hand. Holy shit that hurt. The nurse is telling me to try to relax and breathe as the guy is collapsing veins like it is going out of style. 

I told him I promised he could get my arm first shot. It’s my PKU vein after all. So he tried. It hurt a ton breaking through all the scar tissue but it worked. 

Then the anestesiologist put something in the IV to calm me down. Right after I was supposed to get oxygen and be put to sleep. They didn’t have a long enough hose for the oxygen so the first drug really kicked in. I was tingling and dizzy and felt like someone was standing on my chest. I started to panic and was holding my breath and freaking out even when they put the oxygen on. 

Then I was asleep

I only remember flashes of waking up. I was in pain and panicked. I probably went through that 5 or six times. I was dizzy and nauseous. I was pumped full of dilaudid and zofran and then snapped out of it pretty quickly. 

The pad over my hip is about 3 inches thick so it was very interesting to get dressed when I was discharged.

The ride Home was actually much more comfortable than I anticipated. I enjoyed the heated seats in my husbands car but with a slight recline and adjustments here and there it was virtually pain-free the majority of the way home which is nice seeing as it took about an hour and a half. We stop quickly at the drugstore to pick up the prescription for the pain killer in the anti-inflammatory before heading home. 

Getting up the stairs to the main floor with slow but manageable. I made my way right to bed and use a bunch of pillows to prop my knee and my back up it was surprisingly more comfortable than I anticipated. 

I was really looking forward to my cold therapy compression machine however after several attempts we were never able to get the cold therapy portion were thing working. Even after speaking to the company and troubleshooting with them the machine wouldn’t work properly. The compression portion did feel nice. But I think I’m missing a lot by not having the cold therapy going through the hip brace. 

The Dilaudid doesn’t seem to be doing very much I might have a higher tolerance to pain medication after using the Percocets for so long but as long as I’m laying in bed not moving there’s just a doll aching pain.

I’m very thankful to my mother for the unconventional birthday gift of a raised toilet seat I can’t quite imagine being able to get on and off the standard commode.

Last night overnight wasn’t so terrible the pillow under my knee helps a lot and I just popped my back up a little bit so I wasn’t lying flat.

Today I haven’t done too much other than just trips to the restroom I found out today that Larry has to go all the way to the East End to pick up a replacement machine for the cold therapy hopefully once he gets home I can set it up and help reduce some of the swelling in my hip. 

Not being able to get around easy sucks a lot especially because my Coke is in the basement and Larry refuses to get it for me he says I can only drink water. 

Larry’s mom have the kids overnight last night and took them to school today. Larry’s going to pick them up after work and bring them home and then after dinner my mom is going to take them to her house for a sleepover tonight hopefully I can rest up but I’m looking forward to seeing the kids.

Personal update

Since my last post I’d have received my blood level results from the three days after takingPHEbloc. I’ve done a little bit of analysis on the difference between the days based on the amount of protein I’ve had for breakfast and lunch. And what the difference is in the blood levels before and after lunch. I will save that analysis for another day.

The main thing occupying my life these days is hip pain that I’ve suffered with for the last year and a half. After quitting soccer this past January I got an x-ray of my hip and was referred to a sports medicine doctor. I will send for an MRI and it’s been determined that I Actually need hip surgery and not just my left hip but likely in my right as well.

At the beginning of September I will have an MRI done of my right hip and I’ve just been informed that surgery on my left hip will be performed in Brockville on December 21.
I’m obviously a little nervous about how the hip surgery and how recovery will go. It sounds pretty invasive to have bone shaving in repairing a bunch of cartilage issues. The nurse said to expect to not be able to drive for a minimum of two weeks and to need crutches for a minimum of two weeks and to be off work for up to 4 to 6 weeks. After that they anticipate needing approximately six months of rehab and physiotherapy. After that I’ll be just about ready to go through the same surgery on the right hip as well. 

I’ll keep you posted on how this part of my house progresses. I am happy to say that I am on the file box it’s making the diet a lot easier while I have a lot of extra stress and pain and heavy duty pain medication going on

Pre PHEbloc blood results

I recently realized, after publicising the fact that I was going to be starting LNAA therapy, that something that my clinic asked me to do wasnt ‘normal’. 

When I met with my genetics doctor and dietician and discussed starting this therapy the doctor had asked me if I would be willing to do some tests. I said that I was fine with doing anything. 

So what I had agreed to was this:

I would eat what I was normally eating off diet, higher PHE food and no metabolic formula. I would record everything that I ate and drank. I would take a blood level a half an hour before eating lunch and then an hour after I was finished eating.  I would do this for three days without taking the LNAA then I would mail in the samples and food records.

Once starting the LNAA I would eat the prescribbed 56g of protein from food, take the 18g of PHEbloc a day and take blood levels at the same time of day.

Some people asked my why on earth would I put myself through 15 needles just for the sake of the doctors curiosity. My answer to that is Why woudlnt I?

While LNAA therapy isnt new it is relatively new to Canada and to my clinic. Why would I not participate in some minimally invasive research in order to better understand not only the drug I am taking but to understand myself and my body’s response to it.  I found it interesting to look into what the treatment was super to do.  On top of that it already appears that something is different about how my body reacts to my PKU so the potential that the LNAA therapy could also impact my blood PHE levels is very interesting. 

I have the results back from my 3 days off blood tests before starting the new therapy.

Here are the results of the 6 blood spots (pre and post lunch):

June 23: 1085 and 1175umol/L

June 24: 1329 and 1483umol/L

June 25: 1464umol/L and 1494umol/L

Once I get the levels back from last week I will be able to do a bit of analysis. 

Protocol for starting LNAA

My clinic appointment on Monday was very productive. I think my dietician and I had already decided that I was going to try the LNAA therapy but we still needed to speak to the genetic doctor. After our discussion he determined that it was a good treatment option for me. The genetic doctor hinted that he would be interested in some additional blood work before and after starting the new therapy.

I don’t know for certain but I think I am one of the only patients that agreed to do the therapy and agreed to do pre and post therapy testing so that they can analyze the results.

The day after my clinic appointment the dietician contacted me to give me information on my dosage and to follow up to see if I was still willing to do pre and post therapy resting.

The general idea in the traditional PKU treatment is that a PKU patient receives 80% of their protein requirement from medical formula and approximately 20% of their protein requirement from natural foods. With the LNAA therapy the PKU patient is prescribed 20% of the daily requirement of protein obtained through the PHEbloc while 80% of their protein requirement is obtained through natural protein. 

My dietician has prescribed me approximately 6 to 7 packets of PHEbloc each day and each contains 2.2 g of protein equivalents as well as prescribing 56 g of natural protein.

56g of Protein is higher than I have ever intentionally tried to eat and document. Documentation is important right now. The dietician has asked me to do accurate food records for the next several weeks in order to see if the LNA a therapy is having a positive impact.

The dietician provide me with samples of the PHEbloc to see if I was able to find a way of taking it. Unlike in the United States in Ontario only the powder sashets are available and they need to be mixed with food or fluids in order to be ingested. Being an amino acid supplement that there isn’t much taste and you can take the sashet with a very small volume of fluid.

Being an amino acid supplement  there isn’t that much taste and you can take the sachet with a very small volume of fluid.
After officially deciding to start this therapy the dietician contacted me with the request from the genetic doctor for protocol to follow for starting the new therapy. I stopped taking the samples for now and have been tracking my intake and aiming for 56g of protein. I am supposed to take a blood level prior to eating lunch and take another blood level an hour after lunch as well. I am to follow this procedure for three days. After I begin the new therapy I am supposed to continue to monitor my intake aim for 56 g of protein a day and take a blood level prior to lunch and an hour after for three days. The geneticist hopes that these 12 blood levels will be able to show A positive effect from the new therapy. After this week I will be asked to do weekly blood levels for a month or two and then monthly blood levels in order to keep a record of my progress.

It is important to remember that the LNAA therapy is mainly to reduce brain phenylalanine levels and not blood phenylalanine levels so it will be difficult to know quantitatively if the new therapy is having a positive impact.

The hope is that there will be a qualitative positive impact that I will be able to notice.

Today I am for finger prick blood tests into my six-day protocol to kickstart my new therapy. I’m excited to keep you updated on the progress and what I am doing in order to achieve the 56 g of protein target that I have been prescribed
I will write soon with new food ideas and the results of my phe levels

PHEbloc – LNAA therapy for PKU

I haven’t written a post in almost 2 months.  I had decided that since I didn’t feel like I fit into the definition of PKU in the traditional sense that I didn’t really have much right to be sharing my story or providing advice to other people affected by PKU.

In my head I am still suffering an identity crisis, sure that I have PKU because my blood phe levels are high, but unsure if I should say that I have PKU because I don’t follow diet and I seem to be asymptomatic regarding the mental effects of high phe levels.

I continued on living my life eating grains and cheese probably consuming somewhere between 30 and 50 grams of protein a day and my blood phe levels stay at around 1300 or 22 (depending on the unit of measure). I have been struggling a bit with talking to family and friends because all of them know that I have PKU and recall from the past that PKU means I cant eat protein and need to drink supplements. But then they see me eat cheese or pasta and they are understandably confused. Am I cured? No. Are you sick because you aren’t on diet? No. If you don’t get sick then why should you be on diet? Um. Are you sure you have PKU maybe it went away? If I am having an identity crisis trying to understand myself then I can understand how people that don’t know everything about PKU can be confused.

My dietician contacted me a few weeks ago to tell me that Large Neutral Amino Acid therapy had recently been covered by the Ontario provincial government. I had come across some research on LNAA therapy when I was studying up on the blood brain barrier (BBB) in order to try to understand what isn’t working as expected in my head.

The theory of LNAA therapy is to flood the transporters for large neutral amino acids at the blood-brain-barrier in order to reduce the amount of Phe that crosses from the blood to the brain. The higher concentration of other LNAAs means that there is less room for the phe to cross over.

The theory from my genetics doctor is that there is already a mutation that is causing the transfer of phe into the brain to be less that what is expected of a typical person of PKU but the idea of having a back up or safety net on top of this seemingly true but unproven defect in my transporters was interesting.

After trying a sample of the PHEbloc to see if I could take it I have decided to change my “diet therapy” to include LNAAs.

My doctor and dietician have given me a protocol for how to start the therapy that I will outline in my next post.

A mutant among mutants

I used to talk a lot about some of my best friends. Others with PKU. The catch is that we were close, kindred spirits, talked online every day, told each other things that we had never told anyone else, and that we had never met each other.

Wait, what? Maybe in this day and age that actually doesn’t sound that odd, but back say 10-15 years ago it seemed crazy. Anyway the whole point of this is that one of my closest friends that I had never met (until 2013), was the one that suggested that perhaps I was a mutant among mutants.

Kerry has listened to me on the phone for hours have a conversation with myself out loud about what I should do with myself and trying to justify how I live my life.

My last 2 posts have been about how I don’t appear to be the textbook PKUer. Someone replied to one of those posts trying to help me understand myself a bit. She said some very interesting things.

I am trying my best to research ways to explain why I appear to be different. For definitive proof that I am different and maybe official “permission” to not follow the PKU diet, (not that I am anyway)”

It wasn’t until seeing an add for this article on Facebook that I was reminded of my interest in looking into this. Basically the article explains about a study that was done looking at the DNA of seemingly healthy people to look for individuals whom actually have markers of a disease that should be debilitating to them. In the end the study found that there were 13 people out of over 500,000 people that have mutations that cause severe disorders, yet they appeared to be healthy.  There are a lot of * to go with the findings but the general idea that there could perhaps be an additional mutation that somehow is minimizing or preventing the manifestation of the disorder is very interesting to me. (mutant among mutants, get it?)

PKU, if not treated at birth could have fallen into the list of disorders that were looked at here. If there was no newborn screening how many seemingly healthy people would we find that actually had genetic mutations that would cause PKU?

There are a few other ideas for how it might be possible that a PKU patient’s blood phe and brain PHE levels are different. The article here talks about a study in mice where the test group was overloaded with other LNAAs (large neutral amino acids) and in turn had a lower brain PHE level than blood PHE level. The idea here is that all the LNAAs compete with each other and less PHE crosses into the brain because the transporters are overloaded with other amino acids. I would like to ask my dietician if my other LNAA levels are tested but I am pretty sure she does a full amino acid panel once a year so I guess this isn’t naturally occurring in my head.

I have been told that an MRS (magnetic resonance spectroscopy) is able to record your brain PHE level. I have no idea how I can go about getting one.

How could I go about finding a doctor that would be interested in helping me get answers. A doctor that would help me determine what the difference is between my blood and brain PHE levels and would actually be interested in figuring out the why? Right now I feel like I am the only one in the world that cares and is looking for an answer. I have no idea who or how to reach out and look for a definitive explanation.

If anyone anywhere has any idea of who I could contact please let me know.