Tuesday, December 5, 2017

Health Update

Who wants to talk about weird hormone problems?! If ovulation and hormone issues make your tummy churn, this blog post is not for you!

I've always had hormone issues, and I think it's safe to say they've resulted from my pesky little friend Herman the brain tumour. Herman is a little jerk who has set up camp on my hypothalamus, and has done a particularly good job at messing things up. I was diagnosed with hypopituitarism in 2011, which means that my body does not make enough hormones. Particularly, my estrogen, progesterone, LH and FSH have been impacted.

In October I had extensive hormone testing done to see whether or not this was still the case. I had the GnRH study done, which meant I was given a synthetic hormone to see whether or not my pituitary and hypothalamus respond correctly. I had this test done about 8 years ago, and it showed that my hypothalamus and pituitary do not properly "communicate" with each other, which means that the proper amount of hormone is not being synthesized. This time, the tests STILL showed that my hypothalamus and pituitary don't want to talk to each other... I think Herman is intercepting all the important intel.

The tests also show that my estrogen levels are still low, which isn't really a good thing. Estrogen is vital for bone health in women, and my endocrinologist is concerned that I haven't been on any form of estrogen for quite some time. I got sent for a bone density scan (let me tell you, Alberta Health Services does not make this easy if you're under 50) and got the results back last week. The scan showed that my bones are right between being "normal" and "slightly abnormal". Confusing, right? Well let me explain:

When you have a bone density scan, you're given a score and it compares your bones to the bones of those around you who are your age. A score of -1 and higher is normal, a score of -1 to -2.5 means you have low bone density, and a score of -2.5 and lower means you likely have osteoporosis. My score was -1.

So what are we going to do about all of this? Well, I need some more blood work done. My endocrinologist wants to send me for weekly blood work for 8 weeks to see if I ovulate, because at this point we aren't sure that is happening. Some more testing needs to be done as my anti-mullerian hormone level was extremely high, which either means I have polycystic ovarian syndrome (which they don't think is likely) or because I don't ovulate (which is the going theory). After that blood work is done, I'll be starting on estrogen replacement therapy, as the endocrinologist thinks I will be osteoporotic by the age of 40 if we don't get on this now. I'm getting a referral to a reproductive endocrinologist in the new year just to see what my options are for having kids in the future (let me repeat that very important word... FUTURE). I'm also getting a referral to a medical geneticist just so I have someone to keep an eye on all my NF issues.

So, there you go! There's my latest health update! This will also be my last blog post for 2017 so I hope you all have a very Merry Christmas and a fantastic New Year! Thanks to each and everyone of you who read my blog this year, it means so much to me!

- Court

Monday, October 30, 2017

Recovery is Always a Choice

Hi! I've recovered, and to some degree, am still recovering from a eating disorder. It may or may not be well known to some of you, but I struggled with anorexia and major depression for five years. At the time my journey with mental illness developed, I felt like my life was in shambles. I had just been diagnosed with an inoperable brain tumour, hypopituitarism, growth hormone deficiency, chronic headaches, ribbon rib deformity, scoliosis and tumours had been found in my abdomen, pelvis, arms, legs and ear.

Anorexia and depression robbed me out of five years of happiness. I did not "choose" to have an eating disorder, just so we're clear. It kind of just unintentionally evolved from my desperation to cling to some element of control in my life. With all the health issues that I was facing, and all of the uncertainty and unpredictability, food seemed like the only safe element of my life. I wanted to control something so desperately, I didn't even care that the control I was clinging to was slowly leaching the life right out of me.

Anorexia destroyed any bit of self confidence I had in myself. It destroyed relationships I had with friends and family. It made my hair fall out, my skin to take on a permanent grey colour, and to make my blood pressure so low that simply standing up made me want to pass out. Despite the physical, social and psychological manifestations this disorder brought on, I was reluctant to change. It took me five years to realize that this illness could very well end my life.

There will come a time, (like the time came for me) where you have to choose to let go of whats destroying your life, even though it will destroy you letting it go. Anorexia had become an identity to me. It allowed me to retreat to this place in my mind, where I didn't have to cope with what else was going on in my life. Letting go of my eating disorder meant that I had to own up to the fact that I was struggling with my other health issues, and accept the fact that my genetic condition would likely lead me to a life of uncertainty.

Healing and recovering from mental illness doesn't mean that the damage it has caused is gone and forgotten about. Instead, healing means that the pain and suffering no longer has control over your life. Remember, mental illness is never a choice, but recovery always will be. Recovery won't be easy, trust me on that one. But it will always, always, always be worth it. Recovery is slow, and it can be painful. Don't be the one to stand in the way of your own success.

I just want to leave you all with one more thought. Through the process of recovery, I've learned that it will take time to love yourself  and that's okay. I still don't think I am there today, but when I look in the mirror and look at the person I have become, I'm comforted by the fact that I fought like hell to become her.

- Court 

Tuesday, August 29, 2017

Preimplantation Genetic Diagnosis

Did you know that Neurofibromatosis is an autosomal dominant genetic condition? That means that people with Neurofibromatosis have a 50% chance of passing it along to their children. Dominant inheritance means that only one abnormal gene from a parent is needed to cause disease. This happens even when the matching gene from the other parent is completely normal and healthy. The abnormal gene "dominates" the normal one.

Pregnancy can be a scary time for families, especially when there is a risk of passing along a genetic condition to offspring. Neurofibromatosis is an extremely variable condition, and just because one person in the family has a mild case, does not mean that their offspring will have the same manifestations. One case may be mild, one severe, the next barely noticeable. One family member may suffer with learning disabilities, the others may not. Some may suffer with relentless chronic pain, others will deal with persistent feelings of numbness and tingling in their extremities...

When it comes time to having children, couples who have known cases of NF should be seen by a genetics counselor. A genetics counselor will assess risks associated with pregnancy, and will offer different kinds of services to help with maternal well-being. One relatively new "service" that is available to couples is preimplantation genetic diagnosis.

Preimplanation genetic diagnosis is a technique used to detect genetic "defects" within embryos prior to implantation. This can not only be used for couples who have known  chromosomal disorders (ex: NF), but also for couples with sex linked conditions (ex: hemophilia), carriers of single gene disorders (ex: cystic fibrosis) and women who have had recurrent pregnancy loss.  

This process is done in conjunction with  in vitro fertilization, and is a little bit tedious. So here's how it's done: 

1. Egg retrieval and fertilization occurs in a laboratory 

2. Five days after the embryos are developed, several cells are microsurgically removed from the embryos. The DNA of the cells is tested to see whether or not the "problematic" gene is present in the embryo. 

3. Once "healthy" embryos are discovered, they are implanted into the uterus through the process of in vitro fertilization. 

Sounds pretty simple, right?! Well this process can be pretty lengthy... it can take 4-6 weeks to complete one cycle of IVF. The genetic testing takes 1-2 weeks minimum. Then you have to take into consideration all the appointments you need to be scheduled for... it can take a while! Also, this procedure is relatively expensive. One round of IVF can cost $10,000 - $15,000 and then the genetic testing can tack on an extra $4,000 - $5,000... IVF is also not guaranteed to work and couples may need several rounds of treatment before they are successful. 

Now I tried finding some statistics for you all on how "guaranteed" this procedure is, and from the looks of it, it seems pretty darn reliable. Since only the unaffected embryos are implanted, you are pretty much guaranteed to avoid the gene you are trying to avoid. However, other genetic variances may still be passed onto your child... this technology does not prevent all genetic anomalies. 

This technology still remains relatively controversial in the medical community, and many people have many different opinions on the use of it. It has recently gained some traction in the media for allowing people to create the "perfect designer baby", but keep in mind that it can be used for MUCH more than that. 

- Court


Monday, July 31, 2017

Dating with a Chronic Illness

Dating is hard. I didn't date in middle school, or high school, or even in university for that matter. I always struggled with making meaningful relationships with guys.

I was very insecure while I was in school, to the point that even friends and family didn't know about my health struggles. I kept everything a secret, because I was so petrified of being judged and/or ostracized. I struggled to keep friendships going, none the less a romantic relationship.  

I always felt like I was not worthy of love or belonging because of my genetic condition. I never understood why someone would choose to be with me, because that would mean they were also choosing to be with my genetic condition. I tend to be a very forward thinker, and would always think things like "Well, what happens if in the very very far future I get sick? What happens if tumours start growing everywhere? What happens if we get married in the future and want kids and this darn thing gets passed along?" -- I mean, I think WAY too much. 

I didn't have my first serious relationship until I was 22. I was pleasantly surprised that dating was not as hard as I thought. Being with him is easy. I've never had a moment where I felt like he is/was judging me. Many people have asked me when I knew it was the "right time" to tell him about my genetic condition, but the thing is he knew all about it before we even started dating. I don't even think there is such thing as certain time when you need to tell someone something serious about yourself... just do it when you're ready! 

I remember sitting down with him one day and having this conversations:

Me -- "Does the future ever scare you? Like do you ever think about something serious happening to my health?" 

Him -- "Not at all. All I think about is that I have you here, and that right now everything is okay. We'll deal with whatever is coming when it comes."

I think the biggest thing that I've learned about dating and falling in love is that regardless if you have a chronic health condition or not, it's scary. It's scary to be open, and vulnerable. It's scary to share your secrets, and fears, and your past. It. Is. Never. Easy. 

So my friends, if you've struggled finding a relationship I am going to offer you a few pieces of advice that have worked for me:

1. Pick someone who will sit with you through appointments to support you even if they are running hours behind and the waiting room is hot and stuffy.

2. Pick someone who is willing to learn about your condition/needs and ask questions.

3. Pick someone who although  may not understand the physical or emotional pain you're going through, will be there to support you and will always try to understand.

Although this is not a fool proof guide to dating, I am hoping it provides some guidance for those of you looking for the love of your life. Trust me, it's possible to find someone amazing who will love you despite the "flaws" you may have. People aren't as crappy as you think they are.

Just remember, " You are imperfect, you are wired for struggle, but you are worthy of love and belonging." - Brene Brown

- Court 

Monday, June 26, 2017

Dearest Herman, I Despise You

I hate you Herman. Yes, you heard me... I. Hate. You. Herman. 

For those of you who don't know, Herman is my hypothalamic/pituitary brain tumour. He was discovered when I was 13, and going for a "routine" MRI scan. I remember being told that I had an inoperable brain tumour, and that if it was growing, there was likely nothing that they could do for me. That's kinda stressful, especially for a 13 year old.

Over the years, Herman has caused me an incredible amount of grief. I was diagnosed with hypopituitarism, and growth hormone deficiency when I was 16 years old, which means that my body doesn't make enough hormones. I remember having to start growth hormones, and inject myself 6 days a week. Going for hormonal stress tests where I got injected with insulin to try and purposely drop my blood sugar levels to see if my body would appropriately respond. Spending countless afternoons at the Stollery Children's Hospital and having to miss school... That, was all thanks to Herman.

Initially, I had to go for MRI scans every 6 months, to see if that little pest was growing. We didn't know how long he had been there for, since the MRI I had at 13 was the first one I ever had. We don't know if I was born with it, or if starting growing when I was 5, 6 or 7 years old. After the first few scans, it looked like he wasn't growing at all, and we moved the scans to once every year. He remained stable. Actually, he shrunk over the course of the first year without being scanned all the time. It stumped doctors, to how a brain tumour could shrink without intervention. I had spent so much time being a "medical mystery" in a negative connotation, that I was more than thrilled to be an anomaly in this sense.

Once those scan remained stable, they moved them to every two years. And again, I was met with great apprehension. However, Herman and all his weirdness, continued to stump medical professionals and he shrunk.

You know, although I have been scanned more times than I can count, I absolutely HATE MRI days. I hate the anxiety, the worry, and the stress that accompanies it. I hate laying in the scanner thinking about the worst case scenario (lets face it, I'm a nurse and know way too much for my own good about some of this medical stuff). I hate wondering if why I've been so forgetful is because of a new brain tumour, or the reason behind me having mood swings is because Herman is growing (he's in hormone palooza of my brain) . I hate sitting in my doctors office for my follow up visit, because I know that there is always a chance of receiving some very unwelcoming news. I hate that I even have to worry about this in the first place.

But, these are the cards that I have been dealt. I've learned over the years that I am indeed strong enough to deal with this. I have the perfect support system behind me. I have incredible physicians on my team. I can, and I will deal with this.

There are days where I don't want to deal. There are days I would do anything to rid myself of this condition. There are days I feel so blessed to have NF because it has allowed me to meet some pretty incredible people.

I promise, as always my friends to keep you updated. Once I have my MRI results in my hot, greedy little hands I promise to share results with you.

- Court

PS: FUN NF FACT OF THE DAY -- less than 1% of people with NF will have a brain tumour in a location other than on the optic nerve... guess I'm a rarity then eh?