A few weeks ago, Jenn asked me to do this particular guest post as she had spent the day babysitting Little Bit while Frank #2 was having surgery. Just a disclaimer folks… this post is a bit of a downer. I tried to jazz it up, but it hits a little too close to home for me. I promise to make you pee your pants with laughter next time.
Have you ever had a nosebleed? If you never have, I bow down to you in utter jealousy… I get at least four or five per day. Yep, per day. Sometimes my bathroom looks like some horrible CSI crime scene; God forbid if the authorities ever need to search it with those super cool UV lights… they’d think that multiple people met their demise in my bathroom sink.
Through the miracle of genetics, all of my siblings and I inherited a disorder called HHT from my father. If you want all of the nitty gritty details go to www.hht.org; it is a fantastic resource. In a nutshell, it is an autosomal dominant disorder (meaning that each child of an affected person has a 50% chance of inheriting an HHT mutation) which leads to malformed blood vessels in the body. Normally, arteries and veins are completely separate in the body. However, in someone with HHT, an “AVM” (arterio-venous malformation) can form, which creates shunted pathways between the high pressure artery and the low pressure vein. Due to the pressure differential, the vessels tend to weaken and rupture easily. Recurrent nosebleeds are the main noticeable symptom and can range from being little trickles to those that are so severe that blood transfusions are required on a weekly basis.
Growing up, my dad always had Kleenex jammed up his nose or a blood stained hanky in his pocket. We all were so familiar with the “sniff sniff” sound that announced the arrival of yet another nosebleed. My sisters and I all had the odd nosebleed but really didn’t think it was much more involved than that.
Fast forward to my third year of university… I was living with Shmenkman’s parents at the time (he was attending school in another city) and had been experiencing week after week of horrendous headaches and couldn’t chalk it up to school stress any longer. I made an appointment with my doctor and checked it off of my list. Well, two days later, Shmenkman’s dad found me face down on the couch and couldn’t revive me. Long story short, I had had a seizure and it was suspected that I had a brain tumour. One week later I was operated on and it was discovered that I did not have a tumour (thank God) but a brain abscess. While they were working on removing the abscess, they kept noticing that regardless of the amount of oxygen they pumped into me in the O.R., my levels were not rising above 88% (the normal oxygen saturation level for healthy folks is 99% at ambient/room air). As it turns out, I had a huge mass of these AVMs in the lower right lobe of my lung which was severely affecting my oxygen levels and had also caused the brain abscess (since the arteries and veins were connected, my blood did not filter properly to remove the bacteria). After several pulmonary angiograms, I left the hospital with over 40 tiny coils in my right lung (the coils are used to block off the AVM pathways) and a mostly dead lower right lung lobe.
My family and I were all blown away by all of this since we were so oblivious to the issues HHT could cause. However, we still thought that was the extent and went about our lives. When my sister had her two children, HHT reared its ugly head again. Her son had a stroke at 4 weeks of age, and her daughter stroked in utero (at the time we didn’t think these were related but the coincidences were getting a little too much… plus the research done on HHT had improved and we were learning so much more about what could happen).
When Shmenkman and I started our family, I was really only on the lookout for nosebleeds. Frank #1 had the odd one as a baby… but nothing serious. When Frank #2 was almost two years old, he needed surgery for an unrelated matter and when the nurse was taking his baseline vitals we discovered that his oxygen saturation level was only 87%. Shmenkman and I just looked at each other and said “Oh s**t”. Shortly after that, we had both boys genetically tested and Frank #2 did indeed have the same mutation as me; Frank #1 was far more fortunate. So, to date, our little trooper has been through three pulmonary angiograms in his short life to repair multiple pulmonary AVMs. He needs more work, but for now things are stable and they’re waiting until his oxygen levels plummet again.
With all of this going on, I was privately terrified during my entire pregnancy with Little Bit. It seemed that every day we were learning more horrible things about this disease and its repercussions. My sister and her husband were being overwhelmed with the daily struggles of rehabilitating children who have had strokes and my other sisters were being diagnosed with other HHT related issues. So, when Little Bit was born, I watched her like a hawk. We had a sample of her umbilical cord blood sent for genetic testing and when she was two weeks old, it was confirmed that she had the mutation as well. I was devastated… Once I got over that grieving process, I tried to focus on Frank #2’s issues and the fact that I had a beautiful newborn in my life as well as an incredible five year old. However, when Little Bit was three months old, I started to notice that she wasn’t moving her right arm like she was her left. Shmenkman and I lived in denial for a bit, even though I think we both knew what the real deal was. After much prodding and pushing of her specialists and paediatrician (who all believed that she was just fine, thankyouverymuch), I managed to have her MRI date moved up by about one year. It turns out that, as I suspected, she had also had a stroke, most likely in utero. The additional problem was that her cerebral AVM (unlike my niece and nephew) was still open and ready to bleed again. So she was booked for a cerebral angiogram and they repaired the malformed vessel by injecting it with a glue-like substance. The procedure went perfectly to plan and, although it back-tracked her progress with physiotherapy by about a month, she recovered like a dream. Thanks to the amazing resources in our community, she is now followed very closely by a multi-disciplinary team for physio and occupational therapies, as well as speech and general development.
The road ahead for my sweet little ones will have its rocky moments but I really hope that I can impart a sense of empowerment to them over this crazy disease. It sucks, yes, but we’re as on top of it as we possibly can be and are living our lives fully. As deeply as it has affected our family, there are far worse ailments out there so I count my blessings every single day. This is not to say that I don’t have my down days about it… that would be an outright lie, but when I look at the smiling faces of Frank #2 and Little Bit I know that we’re doing everything we can to keep them safe and healthy.
We are so lucky to live in a country [Canada] where we have access to some of the finest physicians, research, and medical procedures in the world. We are also so lucky to have the support of our extended family and our very close friends (including, of course, my dear Jenn, Knarf, and John-Boy, as well as many others). Life truly is good.