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?

Tuesday, May 30, 2017

And... They're Benign!

Just about 3 weeks ago, I had surgery to remove 3 neurofibromas from my leg. These tumours had been growing, and in a location where they CONSTANTLY rubbed on my pant seem and caused quite a bit of discomfort.

Going into the surgery, I was quite certain I knew that the tumours would be benign, but I had this nagging fear in the back of my mind that the pathology results would come back showing that the tumours were actually cancerous. Well folks, today I got the news from my dermatologist that the tumours are indeed BENIGN! Oh what a happy day! NF brings about a certain level of unpredictability to the table, and knowing for sure that there are no signs of malignant cells in my body is definitely reassuring!

I have written about the different types of NF tumours in the past, but here is a bit of a refresher on what a neurofibroma actually is! I've also included some pictures of my surgical site, so if you're at all squeamish I wouldn't scroll any further :) 

A neurofibroma is a (mostly) benign nerve sheath tumour in the peripheral nervous system. These tumours occur, because people with Neurofibromatosis are unable to make a protein called neurofibromin, which is responsible for "monitoring" the body for tumor growth... kind of like how cops monitor for crimes... However, people with Neurofibromatosis do not make this specific protein, which is why tumors can rapidly grow in the body.

The primary treatment for these tumours is surgery, which is what I went through 3 weeks ago! Overall, this is my second surgery. The first being a major surgery when I was 13 to remove a different kind of tumour called a plexiform.





Here's hoping I didn't gross anyone out tooooooo much! Remember, I did warn you about surgical pictures! 

- Court 

Monday, May 1, 2017

31 Neurofibromatosis Awareness Facts!

1. Neurofibromatosis is one of the most common genetic disorders caused by a mutation of a single gene.... more than 2 million people worldwide are affected by this condition!

2. Neurofibromatosis is more common than Cystic Fibrosis, Huntington's, and Muscular Dystrophy... COMBINED!

3. There are 3 different classifications of Neurofibromatosis: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis, all of which are caused by mutations of different genes

4. Neurofibromatosis is an autosomal dominant disorder, meaning people who have the condition have a 50% chance of passing it onto their children. However, more than 50% of NF cases are due to "spontaneous mutation" of a chromosome.

5. Neurofibromatosis Type 1 has a prevalence rate of 1 in 3,000 people and makes up 90% of all NF cases

6. Neurofibromatosis Type 2 has a prevalence rate of 1 in 25,000 people

7. Schwannomatosis is the most "rare" of the Neurofibromatoses, as it only occurs in 1 in 40,000 people

8. Neurofibromatosis Type 1 is caused by a mutation of chromosome 17, which is responsible for making a protein called "neurofibromin". Neurofibromin plays a role in tumor growth inhibition, which is why people with NF have tumors grow all throughout their bodies

9. It's hard to predict how mild or how severe any NF case will be. Approximately 60% of people will have very mild symptoms (ex: cafe-au-lait spots), while the remaining 40% will have moderate to severe symptoms/complications that may be corrected by surgery/medication or that may be persistent and life long (ex: scoliosis)

10. Neurofibromatosis is a systemic condition, meaning that it impacts all systems of the body.

11. Cafe-au-lait spots are the most common sign of Neurofibromatosis. Cafe-au-lait spots are caused by an excessive amount of melanin in the skin. Melanin is a protein that gives skin its pigment. One of the diagnostic criteria for Neurofibromatosis is to have six or more cafe-au-lait spots that are at least 0.25 inches in diameter. It is rare for tumors to grow where there are cafe-au-lait spots (BONUS FACT: 10% of people in the general population have cafe-au-lait spots)

12. The one distinguishing diagnostic criteria that separates NF-2 from the other Neurofibromatoses is the development of tumors on the 8th cranial nerve in both ears (this nerve is important for hearing). In some cases these tumors can cause loss of hearing, and in some cases deafness. These tumors are almost always seen in NF-2 ONLY

13. Lisch nodules are the most common ocular complication seen in Neurofibromatosis, as approximately 95% of people have these by the age of 6. Lisch nodules are hyperpigmented patches in the eye that do not impede vision. Sometimes they can be seen with the naked eye

14. It is estimated that 15-40% of people with NF have optic nerve gliomas. Most often, these tumors develop in childhood and are very unlikely to develop in adulthood. Typically these tumors are very slow growing and have very low malignancy rates. They can however cause vision loss in some people

15. More than 60% of people living with Neurofibromatosis also have a learning disability. Children with NF are 5 times more likely to suffer from ADD and ADHD

16. People with NF have a slightly higher chance of developing cancer in their lifetime than those in the general population. Approximately 25% of people will have cancer in their lifetimes, and 30% of people with NF will develop cancer

17. Treatments for NF tumors include surgery, chemotherapy, radiation and medications to control various other symptoms/complications. Sometimes chemo and radiation are used for tumors that are not cancerous... in these cases these tumors may not be operable or surgery may not be an option! As of right now there is no cure for NF, but researchers are working hard to find a cure!

18. Skeletal abnormalities include scoliosis/kyphosis, tibial dysplasia, osteoperosis, short stature, macrocephaly (large head) and chest wall deformities are frequently seen in people with Neurofibromatosis

19. Neurofibromatosis occurs equally in all races and all genders

20. No two cases of Neurofibromatosis are alike... every person is going to be impacted differently

21. People who have NF-1 tend to show symptoms by the time they are 10 years old

22. Less than 1% of people with NF-1 will have the following complications: early or late onset puberty, being too tall/too short, excessively itchy skin, hormonal imbalances or having brain tumors other than optic nerve gliomas

23. People with NF-2 tend to show symptoms by the time they are in their late teens to early 20's

24. People with Schwannomatosis can be symptom free until they are 40 years of age

25. The most common problem that people with Schwannomatosis face are issues with chronic pain. This is usually the first symptom that appears before a person is diagnosed.

26. Schwannomatosis does not share the same genetic patterns than NF-1 and NF-2 do. It tends to skip generations... so your grandma could have it. then your mom may not have it, and then you could have it.

27. It is not entirely known if there are things that trigger tumor growth. It seems that there are periods of tumor growth during puberty and pregnancy.

28. 1 in 3 people with Neurofibromatosis have a plexiform neurofibroma

29. NF is NOT the Elephant Man Disease. It is actually hypothesized that the "Elephant Man" had a disorder called Proteus Syndrome, which causes there to be an overgrowth of tissues

30. NF can also be called von Recklinghausen Disease

31. Neurofibromatosis is not contagious. People with this condition are no different than those from the general population. Help me raise awareness by sharing these facts, and commenting below with your own NF Awareness Facts... this is just a very small amount of information on NF!!!