#fabrydisease

A sentence that changed our lives forever.. “Well the test results are back and basically confirm what you already knew”… 

In that exact moment, all the questions were finally answered and confirmed our suspicions.

Why wasn’t my boyfriend able to handle heat, any temperature above 24 degrees, couldn’t participate in any sport, and had an exercise intolerance? Fabry Disease.

Why couldn’t he sweat, therefore severely overheating? Fabry Disease.

What were the small red sore dots he had sprawled over his body? Angiokeratomas, Fabry Disease.

Why was it ‘normal’ that my boyfriend spent a minimum of 45 minutes on the toilet directly after eating almost anything, healthy or not, associated with horrible stomach pain? Fabry Disease. 

Why did he live in constant discomfort and pain all throughout his body and struggle with every day tasks and work? Fabry Disease.

Why was it that approximately every 12-18 months he would go through a stage where he became dreadfully ill for a week at a time. It would always start out with the flu, a basic cold for most people and turns into him being unable to control the pain. Literally screaming out for help while being stuck in bed, held captive in his own body feeling like his limbs are being crushed and burnt - felt initially in the hands and feet and radiating to other parts of the body. Running a high temperature that wont budge. Unable to even hold himself up in the shower in an attempt to cool off and having ice packs and wet cloths on him throughout the night to try and manage the temperature. Uncontrollable shaking from the pain. Being in absolute agony and all you can do is watch helplessly and wish that you could take the pain away. Fabry Disease 

Before his diagnosis the hospitals put it down to anxiety and said to take Panadol. Monday was the beginning of another episode, which since his diagnosis in May 2017 we now know as a ‘Fabry pain crisis’. A simple sore throat from having a good late night out, and within 24 hours we’re dealing with everything I mentioned above. He’s sleeping at the moment which is good so I’m taking some time out to write this. We’ve been waking up all through the night for the next lot of medication and we’re all exhausted. We’ve got enough pain killing medication in this house to open our own chemist right about now.  Panadol, Nurofen, Tegretol, Cold & Flu Medication, Endone, cream to cool his skin down. You name it. We got it. 

I’m not normally one to complain about my life. I spent a lot of my teenage years self harming and suffering from depression but I’m learning to see the positive in every situation and sure we all have good and bad days, however, lately, we just cant catch a break. Between my Type 1 Diabetes, struggling with my blood sugar levels and getting my ratios correct, being miserable at work and unsure on what to do in that regard, and now with the recent diagnosis of my boyfriend and the current pain crisis and running on minimal sleep…. I just feel like crawling into a hole and disappearing for a few days.

Our future looked bright. I’m sure it still is, but the vision is just a bit cloudy at the moment. Our plans to save for a house, get married and have a beautiful family. What to expect seems really unclear right now. Can he still take over his fathers business? He can barely cope at the moment let alone the pressure and stresses of being there alone. How much longer can his hands cope with the demands of being a mechanic? 

The defective Fabry gene is inherited on the X chromosome, so all of our daughters would inherit the disease and none of our sons would. Females aren’t usually affected as severe and are often looked at as just “carriers” of the disease due to females having two X chromosomes, one inherited from each parent, and therefore having a ‘non defective’ X chromosome to fall back on resulting in the symptoms generally not being as severe as males. Although, my boyfriends Aunty has Fabry Disease as well and unfortunately suffers the full extent of the disease.

During the first night of this current crisis, my boyfriend asked me what we’d say to our children in the future when this inevitably happens again. I didn’t have an answer, and being completely honest - it breaks my heart. Seeing what he goes through is hard enough as a 22 year old, let alone explaining that to a child. Are our precious baby girls destined for the same fate their father has to endure? To what extent will Fabry Disease affect our baby girls, will they just be a carrier or will they have all the symptoms and suffer every day like their daddy does? Once our girls are old enough will they resent us for consciously passing this horrible disease onto them? If we never had a baby girl, the disease would stop where it is and not progress further down our family line. It’s a lot to take in, but when the information is laid out in front of you, you’re forced to think about the future and your children. Whats the right thing to do in a situation like this?

On the other hand.. my boyfriend is facing the unavoidable complications that correspond with Fabry Disease.

- Highly increased chance of kidney failure throughout life; - Increased risk of heart disease and high blood pressure; - Enlarged heart, malfunctioning heart valves, irregular heartbeat, heart attack and heart failure; - Obstructive pulmonary disease ranging from mild to chronic; - Fabry Disease can disrupt normal blood flow in the brain resulting in strokes.

Every post you read on Fabry Support Groups or online has a negative attached to it. “My father died at 50″, “My brother had 3 strokes by 45″, “I have heart problems by 30″. 

I am so scared to live a life without him by my side. Especially if anything happened to him so young. *touching all the wood I can find* And how does a mother explain to their kids that dad can’t ever go and play outside with them because he is in too much pain, or dads had a heart attack and is spending a bit of time in hospital and that's why he's not there to tuck them into bed. What kind of a life is that for a child. Fabry Disease is complicated and daunting enough for a adult to take in their stride, let alone children trying to understand whats wrong. Not having children was never an option for me, I can’t wait to be a mother one day and experience that kind of love. So naturally you start to question your plans and life timetable.. Would it be better to have babies sooner than planned? So he can enjoy them before he gets worse. We don’t know what the future holds and can’t foresee how, when or even if he will deteriorate. I’m just praying that when he’s ready to be a father he’s still okay.

We’ve spent numerous days in hospitals having various tests done to determine if any damage has taken place yet. To qualify for treatment for Fabry Disease you need to have proof that one of your major organs have been affected by this disease. How stupid is that right? Treatment that will benefit the patient and boost their quality of life, but no you can’t have it until damage has already taken place.

We were told that he had light scarring on the heart. Yes, at 22. I wont lie, I cried a lot about that. This finding automatically qualified him to receive Enzyme Replacement Therapy (ERT). ERT replaces the enzyme that is missing or not working correctly so that the body can break down fatty substances the way it should normally. The drug is administered by intravenous (IV) infusion. This is a process that involves injecting the drug into a vein, directly into the bloodstream and is done every 2 weeks under the care of a hospital for the rest of his life. Treatment can take 5-6 hours to begin with. As the body is not use to having this enzyme it is important to administer the drug slowly to ensure there are no detrimental reactions. It will slowly decrease to a few hours. We were told that sometime in the future there would be a possibility of receiving ERT at home. 

He is due to commence ERT on Wednesday 16 August 2017. And I will be by his side every step of the way.