My journey with rigid-spine congenital muscular dystrophy (SEPN1)
Who I am
My name is not Dee , I am 47 years old and this is my story of living with congenital muscular dystrophy type SEPN1 (also known as rigid-spine muscular dystrophy). Throughout this site, I will refer to the diagnosis as SEPN1. The reason I am using a pseudonym is because despite anti-discrimination laws and people’s best intentions, I still believe that if my real name was online and associated with muscular dystrophy, it could affect my future career opportunities. It’s just the way it is I’m afraid: “One of those things.” Please note that this page is best viewed in Google Chrome web browser.
Why I am doing this
I have decided to share my story as SEPN1 is a very rare disease. Last I heard there were only 50 some people in the U.S. who had been diagnosed with it. It is my intention here to educate and help families who have been recently diagnosed. In addition, many medical practitioners are completely ignorant of this disease – I hope to educate them too. I hope my story will give parents and sufferers hope that their children or they can still live perfectly great lives despite this undesirable diagnosis. My life has held many challenges along the way, but it has and continues to be a really awesome life!
Please feel free to get in touch with me, ask me any questions etc - email me.
The Early Years
I was born in Johannesburg, South Africa in 1969, the youngest of three siblings and the only daughter. I was born via caesarian section which is just as well as I had the umbilical chord around my neck. I weighed 5.8 lbs and seemed like a totally normal baby. I was tiny and awfully cute, with red-gold hair.
I was never much of an eater and I developed rather late, walking at 18 months. I am not entirely clear at what point my parents wondered that something might be amiss – but probably around the age of three or four, I was schlepped off to the doctor because I seemed rather “floppy” especially around my head/neck. I had no control over this area and could not support my head if held cradle-like or at an angle. Indeed, this severe neck weakness is the only SEPN1 affliction that has been a constant throughout my life. I have never been able to lift my head from a laying-on-my-back position or do a sit up. In order to get up I have always had to roll over onto my side. Every time I see one of those stupid mattress advertisements that show a gorgeous woman awaking fully made-up and radiant and sitting up in bed I think to myself – does she or anyone who sits up in bed every single day ever think for one moment what it is like to NOT be able to do that? I don’t feel sad that I can’t do it as I’ve never been able to – but I would love to experience what it’s like just once in my lifetime. In my adult years, I have wished to be able to do it for sexual reasons – how I would love to be able to raise my head and kiss my lover when sprawled on my back.
At around eight years-old I saw a neurologist who told my parents that I had weak muscles, “faulty” muscle fibers. There was no diagnosis per se, whether this was because Spinal Muscular Atrophy or Muscular Dystrophy were not well known at that time, I don’t know – surely both have been in the medical books for far longer than 40 years? However, that is the only diagnosis my mother recalls. She also recalls not being very concerned about me as for all intents and purposes I was an entirely normal child who did everything my peers did. This is not exactly the way I remember things. I recall not having to do all the same strenuous exercises my peers had to do in elementary school PT class. I was pretty sure my mother had informed the PT teacher of my weak muscles as I was often excused from having to do the same things my peers did. My mother however does not recall ever telling any teacher about my muscle weakness. My memory of this is very clear because I recall my friends always moaning that “Dee got out of doing stuff because she is so small and cute.” They never held it against me interestingly enough and I don’t recall minding being judged in this way.
As a child right up into my twenties, I never told anyone about my muscle weakness. I was embarrassed and ashamed. When I had a muscle biopsy at eight years-old, I came back to school with a bandage on my upper arm. At this same time, I had secured the role of the bird in our school production of Peter and the Wolf. I made up this convoluted story that I had been rehearsing my role running up and down a ladder, tripped and fallen and cut my arm on a rock in our garden and required stitches! When I look back on my eight year-old self I laugh at this and think, “Oh Dee, why didn’t you just tell the truth sweetheart? Why all these silly lies? So you had weak muscles, big deal!”
My childhood was an immensely happy one. I loved elementary school and was very popular with boys and girls. Indeed, I “went steady” with my first love at age ten for two years! We are still friends today! There was nothing unusual about my early childhood – it really was completely normal (well other than the fact that I lived in the most abnormal societal construction - Apartheid. A whole other story to share at another time). No illness or medical issues (I had my tonsils out!) other than just being a bit weaker than my peers. I started ballet at age six in part because I had in-turned feet. I had been subjected to a foot brace for a couple of years while I slept but in the end, ballet solved that problem. I was never very good at ballet but I managed to do everything the other girls did and enjoyed it immensely. I was never any good at sports. I recall in grade six, I was embarrassed at always coming last in athletic races on sports day – so I offered to pay a kid who usually came second last, to come last. The pay-off was a chocolate bar which she gladly accepted!
The Early Teen Years
Everything changed for me when I went to high school – standard 5 (grade 7). I was 12 years-old. All my girlfriends were going through puberty. They had breasts, wore bras and grew accordingly. Suddenly I was the youngest in high school and the tiniest. As I’ve said I was always a late developer (when I had bone age x-rays they were usually two years behind) – I looked very much like a child at 12 compared to my friends who looked more adult. I only got my period when I was 16 years-old. Suddenly the boys in our year seemed infantile. None of the girls cared about them – they now cast their eyes on older high schoolers. I was tiny, skinny (another SEPN1 hallmark), undeveloped and I went from being Miss Super Popular to being Miss Invisible-to-Boys. It was devastating.
At the same time, I began to develop scoliosis – curvature of the spine. This was something the neurologist had predicted to my parents. It was expected due to the weakness of my muscles being unable to support my growing body. Thus began a series of very depressing afternoons at the orthopedist’s office being x-rayed, measured and examined. At age 14, I was told I would have to wear a plastic brace from my hips to under my arms, 23 hours a day to try to arrest the curve. It was the end of the world as I saw it at the time. The brace was uncomfortable, chafed my skin causing red welts and pushed against my right breast causing my bust to look very uneven. None of my clothes fitted – I had to go up two sizes. I remember this being a very difficult time for me and yet, I still begged my parents to allow me to go on a three-month school trip to Israel with my classmates at age 15. I look back on this with wonderment that my parents were brave enough to let me go and trusted that I would still wear my brace when not under their supervision and secondly, that I still wanted to go – brace and all! All participants had to undergo a physical prior to the trip – after mine the doctor advised that I should not be allowed to go. I kicked up a storm and somehow convinced the powers that be to let me go.
And go I did! I don’t recall shirking my promise to continue to wear my brace 23 hours a day. The only time I did not wear it was when hiking up and down mountains – we did a lot of that! How I managed I don’t know. But the trip was difficult in other ways, social ways. Age 15 is an awful age to be encased in plastic and feeling completely unattractive to the opposite sex. There was a lot of carousing on the trip, people hooking up (not for sex – probably just your run of the mill petting – we were not like kids today!) and I could not participate. I was never at any time then or in my life teased or bullied for wearing a brace or being tiny/thin/weak. For that, I am eternally grateful. It could be because I grew up in a very insular Jewish neighborhood, went to a Jewish school from nursery school to high school. I always had friends and support.
Looking back I think the hardest thing about SEPN1 in my teenage years was the social aspect – boys, dating etc. I’m not entirely convinced it was always SEPN1 related. Being tiny was not a consequence of having SEPN1 – it was as a result of being the child of two rather short parents! But being reed-thin was all SEPN1, I looked very different from my friends. When I was 16, all my friends started going to nightclubs – they looked over 18. I did not. I sat home and cried on Saturday nights and my dear mom would tell me over and over again – "Dee, I know it’s hard. But I promise you when you are older it won’t matter that you are petite or thin or whatever.” She was right. Mothers always are.
After two years in the brace, my scoliosis continued to progress. I was given a new machine to try arrest the curve – it was called an Isomod machine and I have never seen one ever again. I had to have two electrodes strategically placed on my back at night – they were connected to a current that caused the spine to contract. It wasn’t that unpleasant, but sometimes it burnt. And in the end, it proved useless. At the end of 1986, when I was 17 years-old, I was told I would need spinal fusion surgery.
Spinal Fusion Surgery
The strange thing is, I do not recall being very worried or nervous prior to surgery. Maybe there was some sense of relief as I recall thinking, okay, I will have this operation and then I'll be fine. No more health issues ahead. I really believed that.
At some point during my scoliosis treatment, I also started seeing a pulmonologist who tested my lungs and blood gases (the amount of oxygen in my blood). No one ever really explained to me why I needed to see another doctor - I think I was told my spine was in danger of compacting/putting pressure on my lungs.
I was admitted to the hospital in Johannesburg a full week before my surgery. It felt really ridiculous to be 100% well and in hospital but it was explained to me that we had to work on my lungs, get them as strong as they could be prior to the surgery. I had lots of physiotherapy, nebulizing treatments and an IV. I wrote witty letters to my school friends joking about all things hospital. My friends came to visit. It was a fun time! It was never mentioned to me until long after the surgery when I was much older, that doctors had told my parents fusion surgery would be very high risk - that there was always a chance I would not come through it. I look back and wonder what my poor parents went through during this time.
To illustrate how clueless I was about the danger inherent in this surgery - the night before the surgery, I asked my mom to bring me a black marker and some labels. On the day of the surgery, I drew little black dashes along the labels in a straight line, a tiny scissors and wrote on another label, "cut here." I then asked my mom to stick them along my spine. Why on earth did I do this? It was simple. I wanted to remind the doctors and operating theater staff that I was a person. I was not just a crooked slab of human meat lying on the operating table. I was young. I was joyful. I loved life and I had a wicked sense of humor. I believed in my 17 year-old head that my gag would make them realize all this.
It worked. I was told later that after I was under anesthetic, I was placed on my stomach, they removed my gown and saw the labels. Everyone burst out laughing. I was the talk of the hospital. Mission accomplished. Writing this now 25+ years later, I am in awe of that 17 year old girl for doing that!
The aftermath of the surgery was brutal. I was in ICU for a few days, unable to move and in and out of consciousness. Time seemed to stand still as you couldn't tell if it was day or night. What I do recall is the expressions on the faces of my parents. Total agony. The few friends that visited while in the ICU left crying. I must have looked terrible. I have never needed my mom more than I did during that time. And of course she never let me down. Dad suffered horribly seeing me in such pain he could barely stand to be in the room with me. I didn't hold it against him. I knew it was rooted in his deep love for me. Mom was stronger. Always.
Back then, post surgery, you were transferred to the ward where I had to lie on my back for a whole week. I had a catheta, I was naked. I could not move and had to be turned by nurses every couple of hours. I had long ago lost all sense of humility and inhibitions. That week is a blur - all I remember is finally going home. Oh how wonderful that was. To be out of the hospital after 3 weeks. To be in a soft bed. The only downer was that I had to go back into my brace for another 6 months to protect my back lest I fell or got knocked in any way. On the whole, the surgery was a success. I survived, I grew a couple of inches and my curve decreased from about 44 to 16 degrees which made a huge difference to my appearance. Prior to surgery my hips and shoulders were totally out of alignment.
I went to a small Jewish high school - my friends and teachers were unbelievable to me - they all rallied to help me, many teachers visited me at home to help me catch up. Despite missing 3 months of my final year of high school (matric/Grade 12) - I aced my exams and graduated high school with good results. And as I said earlier, I truly believed my problems and health challenges were over. I could not have been more wrong.
Every Breath I take...
In 1988 I started university at the University of the Witwatersrand (Wits - pronounced Vits) in Johannesburg. Most kids in South Africa do not leave home to go away to school, they just commute. University was a huge shock to me. I had graduated from an insular high school of 600 Jewish kids who had known me from nursery school or primary school - to a university of 20,000 people of all races, religions etc. Remember I was born during Apartheid - so until university I had not even had the opportunity to mix with peers of different races and given that I went to a Jewish day school and lived in a very Jewish neighborhood, I was completely unexposed to the real world out there.
I always struggled to love my body because I was so skinny - a common feature of SEPN1. I was very self conscious. I was also tiny so I felt like a child, only fit into kids' clothes. I felt like a freak. A child surrounded by cool adults. This was a very tough period in my life. I was so self conscious, I used to wear layers of clothes even in the summer to bulk myself up so I felt more "normal." I felt very unhappy. I was now an anonymous "different" person in this sea of university life.
I made it through my first year of college and went to Israel with my best friend from high school during summer vacation to visit my brother who was living there, had married young and just had a child. We had planned to visit Turkey while there but days before I got really sick. The doctor said it was a serious lung infection and I must cancel my Turkey trip. It should be noted, summer vacation in SA is December-February. So In Israel and Turkey it was the dead of winter. Not for the first time. I ignored the doctor and went to Istanbul. It was like a miracle (except I don't believe in those) because when I got to Turkey I was fine, and we had a fantastic week there!
When it came time to go home and return to second year college - I just could not do it. I could not face another year on campus. I stayed in Israel, did a few courses via correspondence and in so doing, indulged my need to avoid. I was lucky that my brother and sister-in-law welcomed me to stay with them. Despite avoiding college for a year, all the same issues plagued me in Israel. I still felt self conscious. Indeed my feelings of self loathing grew. Israeli's are not known for their tact or social boundaries. I would be waiting for a bus and someone would say, "why are you so thin?" (Once I got so fed up I told one of these people that I was dying - that shut them up fast and made me feel good.) I felt like people were starting at me constantly. Were they or was it paranoi? All I know is escaping home did nothing to improve my torment.
Once I got home, I realized I had serious issues that were holding me back and started therapy. My mom is a therapist so I had a good view of therapy in general and mom helped me find a good one. Over a few years I really came to accept myself, embrace my skinniness and build up my self confidence.
Over this same period - 1990-1994 - through the rest of my Bachelor of Arts and law school, I was in and out of hospital with bronchial infections and pneumonia. It seemed like I was sick all the time. This was when it dawned on me that fusion was not the end of my health issues - that it was the beginning. That my lungs were weak and any time I got any respiratory infection - I would inevitably land in hospital. Lungs became the focus of my health now. I have no idea if bipaps were available in South Africa during these years, but I am absolutely convinced that had I had one - I would not have been sick as often as I was during this period. I recently emailed the pulmonologist who treated me through fusion and these years and asked him that very question. He never responded. I did ask him once when I bumped into him years later in 2009 on a visit home - I said why did you not prescribe a bipap for me. He said, I don't believe in bipaps. I remember wanting to hurt him. My dad was dying in the very hospital I had spend so much time - so I didn't have the emotional strength to challenge him further.
During my 3 years of law school something else happened. I started struggling physically on campus. Because I was taking law and arts subjects, I had to walk between two areas of campus separated by a steep hill and a long distance. When I would finally make it from one campus to the other, shlepping heavy text books - I would find myself blacking out in class. Falling asleep. This went on for a long time until I mentioned it to my therapist. She said, why don't you get a disabled parking permit and drive from one campus to the other. Wouldn't that help you? Of course it would. I had never even thought of such a thing. Why? Because my whole life I have only strived to be perceived as totally "normal." I didn't want to be different. It was just a continuation of the theme of denial. If someone saw me park with the permit, my magnificent ruse would be up. They would know who I really was.
But I found the courage and got the permit. It made a HUGE difference in my day-to-day life. It was a good lesson in accepting help and accepting myself. But not enough of a lesson that I gave up my ruse forever or for the next 20 years.
In spite of hospitalizations and plenty of stress/anxiety occasioned by the pressures of law school, I graduated with my law degree in 1994. And that was the end of my law career. Honestly, I'd never wanted to be a lawyer, I wanted to be a journalist but in South Africa in 1988 there was no journalism degree so I went to law school "because a law degree is a good thing to have and you can always write, you don't need a degree!" Thanks Mom!
One other significant thing happened in my early 20's. At 23 I lost my virginity to an Israeli living in South Africa I met via a wrong phone number call. He called me by mistake, I heard his accent and asked him in Hebrew, "are you Israeli?" and he said yes. And then we met and yadda yadda ended up in a relationship for about a year. It definitely boosted my self confidence to have someone obvisously find me atttactive and desirable. His friends - tactless Israelis - teased him about being with such a skinny girl which was hurtful, but overall it was a good first sexual experience.
Immigration #1: Israel
In January 1995 I went to Israel. I had my law degree but didn't want to practice and didn't have a clue what I wanted to do with my life. So I thought I'd do some traveling. I should mention that at this time my pulmonologist had me sleeping with oxygen at night and on diuretics - which I pretended to take but did not - following the latest hospitalization. I always belived he was being neurotic and that I knew better than he did. One time when I told him I was not taking the meds he prescribed he threatened to tell my parents. I reminded him I was over 18 and he owed me a duty of confidentiality. I got so angry, I stormed out his office and almost took his door off the hinges. I might have mentioned I never liked doctors. He joked after that that he was going to bill my parents for his hinges.
Deep down my reason for leaving South Africa was more than just a desire to travel and figure out my life. I wanted to prove to myself that I could live my life independently away from home, parents etc., health issues and all. My therapist at the time said, I could just move out of home and get an apartment! I felt that was not enough to prove myself to myself. So off I went, no oxygen or meds.
In Jerusalem I enrolled in an intensive five month Hebrew program called an ulpan. We stayed three to a room, and I had a French and American roomate. It didn't take long before I started blacking out again - on buses, in class. I would be writing in class, and mid sentence my hand would slide off the page and I'd fall asleep. I know now that all these "black outs" were a result of lack of oxygen and too much C02 - a normal feature of SEPN1 respiratory issues. I found a pulmonologist and he immediately prescribed oxygen. This was deeply upsetting to me as I was sharing a room and an oxygen concentrator makes a noise similar to an air conditioner. It wasn't the noise that upset me, it was the fact that I was "outed" again - a girl with issues. My French roomate was very kind and supportive. The American roomate would come back to our room at 3 a.m. after spending time shagging her boyfriend and switch off my oxygen because the noise bothered her. She literally turned it off. Can you believe that? I went to the person in charge of the program and she threw up her hands and said, sorry we can't give you a private room, you will have to leave. I was kicked out!
Like many things in life, sometimes what seems like the end of the world in retrospect becomes on of the greatest blessings in life. That was the case here. A week later I found a flat-share with an American girl very close to the ulpan. She was dating an Australian at the time who was in the Israeli army and visited on weekends. Molly and Mark - who married later - would become two of my closest friends.
In 1997 on a check up with my pulmonologist, he told me he wanted me to get a bipap machine to use at night. I remember being completely devastated. Not another medical device. I already had the oxygen concentrator and now this - this other huge monstrosity that came with an unbearably ugly and uncomfortable mask that made me look like Darth Vader. At the time bipaps were so large I needed help to carry it when I traveled.
However, there was no arguing with the incredible difference my bipap made to my life. The effects were felt immediately. The terrible CO2 headaches ended. I had energy. And most of all, it would be another 12 years before I was hospitalized with any lung ailment. And that was the only time in 22 years (other than one time in 2014 when I had a bad allergic reaction to a dog coated in tick and flea poison that closed up my throat and put me in hospital for 2 days)!!!
I remember writing to the bipap manufacturer and sayng my biggest wish was for them to invent a bipap the size of a walkman! And today, indeed, my dream has come true as my bipap fits into the palm of my hand. But back in 1997 it was heavy. My mom once came to visit me and we flew to Rhodes island in Greece, bipap and all. She had to shlep it for me. Once at the hotel we realized our adaptor did not work with the Greek outlets which comprised sockets with three vertical holes! So day one of our holiday in Rhodes involved visiting every single hardware store on the Island with the kindest Greek taxi driver who would not give up until he came up to our room to make sure everything was working correctly! Travel with a bipap is never dull or devoid of anxiety. When, like me you are 100% dependent on a machine to sleep - the fear of this lifeline failing you - never ends especially when far from home. Only last September 2015 when visiting family in Israel, did my bipap die - I have never experienced a more horrible panic situation that completely ruined my trip and threatened to put me off travel for good.
During the six years I spent in Israel - life was mostly good (that is when the politial situation was not horrific as it was in the last year I spent in Israel during the second Intifada). I worked first as a grants writer and then started my career in digital marketing and website management - a career I am still in today. One I love.
I did very well in my new career and rose to editor in chief of a large Jewish community website. As a result I traveled on business for the first time to New York. I remember standing in Times Square in the snow thinking I cannot believe I am in the USA - I never ever thought I would visit America. Also during my time in Israel, I had two significant relationship experiences, both with Americans, which boosted my confidence in myself as an attractive, desirable, special adult woman. The more significant relationship with an American living in Jerusalem was what lead me to America and my second immigration.
Immigration #2: USA
When my boyfriend Kobi annouced that he was returning home to Florida in 2001 - I was so ready to leave Israel. The violence in Jerusalem and elsewhere was daily and terrifying. A young man who I'd met on ulpan had been blown up in a terror attack on a bus going to Hebrew University and left a paraplegic. The anxiety of every day life was becoming intolerable. I wanted out. I decided to visit Kobi in Florida, and off I went. South Florida was like heaven on earth compared to war torn Jerusalem. I have never lived by the ocean, yet it has always been my happy place. In a very bold move, I returned to Israel, put the contents of my apartment in storage and decided to go back and try to make a go of it in America. And yes, I took my Israeli bipap and didn't feel guilty because I had paid way more than its value over the years to the insurance company.
After 10 months in Delray Beach (which included the horrific 9/11 attacks) I came to two realizations:
1. Kobi was not for me.
2. I wanted to stay in the US and to do so, would need a job that would sponsor my visa. Not an easy thing to come by especially after 9/11.
With a month to go before my visitor visa came to an end - I started worrying I'd have to leave. But where to? Back to Israel or back to South Africa? Neither were attractive options. I decided to fly up to Philadelphia to see the only family I have in the US. While there they suggested I send my resume to a few orgs. Luck was with me, as I got an immediate response and yadda yadda yadda - I got a job with sponsorship at a non profit in downtown Philadelphia! Other than my cousins, I knew no one in the City of Brotherly Love and had never even heard of the Liberty Bell, cheesesteaks or the Rocky Steps. But Philly became my home and I've lived here ever since, mostly happily and I"m still in the same job!
I was married in 2006 and divorced in 2009. It was my decision to end the marriage, and one I have never regretted. In October 2014, I became a US citizen. I've had some wonderful romantic relationships since my divorce and made exceptionally wonderful girlfriends. I am currently (May 2016) in a beautiful relationship with an amazing man. I am blessed beyond measure.
And as for my SEPN1? Well, it lives. It affects my life every day. Creating this blog has been part of process I embarked upon when I started to get depressed about the increase in my limitations due to the disease. I felt myself withdrawing and isolating and I knew I couldn't let SEPN1 do that to me. So I found a therapist, found a new physical therapist and realized I had a responsibity to share my story to help others grappling with this diagnosis especially parents of a child with SEPN1.
Life is good.
Left: Before spinal fusion.
Curve was at 44 degrees.
Right: Post spinal fusion.
Curve was at 16 degrees.