I always knew I was unique....just not this "unique"!
I have had medical issues since I was a small child, some of which were detrimental, others were just fun tricks. I could bend differently than others, sat in a W position almost all the time, I also absolutely loved to do back bends, showing of my "talents" to everyone. At the age of 4, I went deaf in one ear and partially deaf in the other. From there I had dislocated joints, mysterious bruises, major pains in the legs, GI issues and so much more. All of my ailments we're either chalked up as "growing pains" or just put through medical treatment without a second glance. To be fair, most medical professionals did not know to look for certain symptoms or to put them together and I have multiple genetic issues so, who could've predicted that(except Ms. Cleo, RIP).
I'm a 36 year old, mother of two, a 13 year old daughter and 10 year old son. In June of 2021, I found out that I have not one but, two genetic disorders. One is called Fabry Disease (a lysosomal storage disorder) and the second Hypermobility Ehlers Danlos Syndrome (a connective tissue disorder). In layman's terms Fabry disease is a disorder where your body does not filter a certain type of fat and protein in the proper way for example; instead of fat and protein being pushed out into body parts in order for me to process them properly as well as use them in my body, it builds up inside of my internal organs causing heart failure, kidney failure, among other major problems. It can cause you to have major ENT issues also gastrointestinal outcomes and other major medical inconsistencies with the body. This is a rare genetic disorder, unfortunately my son and I both have been diagnosed with this disease through genetic testing. On to my next lovely disorder(sarcasm is definitely a defense mechanism for me), Hypermobility Ehlers Danlos Syndrome is a connective tissue disorder, which means it affects your whole body in tons of negative aspects. Our connective tissue makes up our organs, skin, everything is connective tissue, therefore this disorder affects every part of the body almost like Fabry disease.
I am about 98% sure that my daughter has hypermobility EDS but because it cannot be detected in a genetic test but, has to be diagnosed with merely symptoms it's harder for her to get diagnosed with that disorder, as of now they're diagnosing her with Hypermobility Spectrum Disorder(on top of other comorbitities) which is right there on top of hypermobility EDS it's so close they almost touch each other (yay! Eye roll).
Fabry disease was not even on my radar, I had no idea what a lysosomal storage disorder was and if you don't know what that means even after I've explained it briefly, I encourage you to go look it up because it it's quite intriguing also sorta of hard to wrap your mind around. Which is exactly what happened to me when I found out I had this disease.
So, through many different steps and many, many different doctors. (I've been through 8 Neurologist, 4 Rheumatologist, 6 Primary Care Physicians and this is just from age 30 until right now, in order to find my diagnosis). I remember the day like it was no other, when I received my final diagnosis of genetic disorders. After my Rheumatologist sent a referral to the Geneticists. (I do not want to hand out names because, I didn't get permission from these doctors to put them in my blog so, I will just refer to them by their specialty, as in Rheumatologist, Geneticist, PCP, things of that nature).
So the Geneticists did genetic testing for any other EDS(there are 13 types of EDS) because I had all the signs and symptoms of classical Ehlers Danlos Syndrome, we did the genetic testing.
He used a company called GeneDX which I loved, they're very thorough and I recommend them if someone who is getting a doctor to help them with their diagnosis while using genetic testing.
It had been 5 years of fighting with symptoms that were gradually getting worse, so the anticipation was gut wrenching. They got to the point where I had to use a walker sometimes, it was horrific and I cried all of the time, I was in so much pain, I was trapped in my own body. I was very good at hiding it from people who loved me, from people who lived outside of my house. Nobody knew how severe my symptoms were until they had seen them in person so, it was a long difficult battle (which is the simplistic way to put it).... it is a long difficult battle and I will call it a battle because I fought harder than someone trying to get air while drowning.
Where was I.....I remember I was sitting on my toilet with the lid down, basically hiding from my family, not wanting to hear what was about to come my way(I knew we would find something with genetic testing) and this lovely doctor (I mean that literally, he's a great doctor), he proceeds to tell me "Good news, you do not have classical EDS all of your EDS testing came back negative." You could tell something wasn't right, so I asked him, is there something else and his response was "Yes, I have bad news also, we've found something we weren't looking for" so as I sat there as this man tells me I have a disease I've never heard of in my entire life and it only affects a limited amount of people, that it's rare, that it usually only affects men, women don't have symptoms (we'll come back to that later). As I sat and tried to soak this in he starts using his emergency response voice and continues to tell me I have to get my children checked immediately, there's a 50/50 chance they will have this rare disease. He wants me to come in to check my heart function and my kidney function, to make sure that I'm not going to go into kidney failure or heart failure anytime soon. I soaked it in about as much as I could (which was about the length of my pinky) because I didn't understand what Fabry disease was or what pathogenic meant. How could all this be the cause of my symptoms? Because according to him, a lot of my symptoms could not be caused by Fabry, that's not what it does, (much to my dismay that is not true, a vast amount of my symptoms comes from Fabry). Hypermobility EDS or Ehlers Danlos Syndrome affect your joints, muscles, internal organs, eyes, ears, etcetera.... etcetera... so my muscle weakness my joint swelling, the damage to my joints, all have a lot to do to do with EDS, unfortunately. I don't know if my Neuropathy is caused by Fabry or EDS, I have tingling in my hands and feet, heat and cold intolerance those are symptoms of both diseases. The lines blur of which comes from which, so back to soaking in both of my diagnoses.
Once he told me the news I got off of the phone, cried alone in my bathroom while contemplating what this means for our family. I started to do extensive research on Fabry disease and what it can cause and how does it affect men to a certain age. They would die at the age of 45 (this is something that definitely stood out to me)so I cried...... I cried because I finally found answers... I cried because I was worried for my son......I was scared he would not be able to grow up and live life.
Up to this point I had already been struggling with his medical issues since he was 5 years old, he was 9 by the year of my diagnosis so it had been 4 years, long years that we had been struggling with his medical illnesses. Trying to figure out where the dots are connected on him and so it was definitely the biggest double-edged sword.
On one hand, I received something I had been searching for.... for years, fighting tooth and nail, being exhausted(to my soul), breaking down, crying, being in pain and wondering what the next symptom would be. Would I go into a coma? What would happen next? The severity of my symptoms continued to escalate and scared the hell out of me!
Not only was it me but, in this period of time I watched my children's health deteriorate. My kind-hearted son was sick constantly, he could not get out of bed some days, he was in massive, agonizing amounts of pain to the point of crying, he had heat/cold intolerance, tingles in his hands/feet and body aches/ pains, GI symptoms(to the point of incontinence) as well as ENT issues(he has had ear surgeries every year since he was 5 years old) just all of it and trying to put the pieces of the puzzle together for not only me but, for him was soul crushing to say the least.
Then soon followed my daughter, she started to pull muscles when bending or stretching, stretch marks started to show literally all over her body, she started to not be able to carry her own body weight and her legs would continue to swell also discolor at the slightest amount of pressure or exercise. My sweet girl would be in agonizing pain almost daily.
While I'm watching my children fight just to be children, to be able to live and not be able to help them is literally torture for a mother. To see your kids not be able to function as children and be in immense pain on a constant basis, they can't get up, run, play and enjoy themselves is the most tortured feeling in my opinion. My symptoms were nothing compared to watching my children be helpless.
Once I processed my genetic test results (as well as possible without a medical degree) and after the shear shock of how are lives we're going to be forever, wore off I realized at least we can help him with some kind of plan....I tested both my children which opened up a whole new can of worms. Being unique isn't a bad thing(or so they like to tell us), but for my family in particular it is definitely the hard way to live/survive. Till next time....never give up, never surrender!
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