I'm not sure, but I am probably one of the oldest "diagnosed" patients with LCHAD. I have been poked and prodded by researchers across the country for many years. Once I was diagnosed, I became of special interest because I have done so well and don't have the severe cardiac issues that many LCHAD patients do. Here is my basic story--keep in mind how old I am  and where medicine was when I was a child--polio was the most devastating disease at the time and little medical research was being done on "rare" disorders.
I was born in Rock Hill, SC a healthy infant. . .with no "apparent" problems until I was 24 months old when I suffered a life threatening episode where I became comatose and unresponsive. The doctors at that time said it was from an overdose of medication [my whole family was being treated for intestinal parasites following the recent birth of my sister--routine back then]. This was probably my first episode of hypoglycemia. I also was not walking well--weak muscle tone and was wearing leg braces. Following this episode--my parents say I began to "fail to thrive." I had chronic "sore muscles." Some of my fondest childhood memories is of my father massaging my legs, back and arms at night while the family sat and watched TV. Anyway, to say the least, I was a "sickly, weak" child who ate like a "pig!" I had a thing for sweets [It all make sense now—I was metabolizing sugar--not fat]. I also suffered from chronic kidney infections--diagnosed with dip-strips. Even today. . .urinalysis strips that are dipped into urine will recognize myoglobin as red blood cells.
When I was eight I had my first "muscle crisis" at a girl scout beach trip and was hospitalized with a severe kidney infection. At 16, I had my second severe "crisis" after a church car wash--this time my urine was black in color and my next door neighbor who was an anesthesiologist recommended a urologist. It was determined that I had a malformed kidney and ureter and that this was why I had been so sick. The kidney was removed and within two months I had another "crisis." The urologist told me and my parents "there is nothing else wrong with her. . .she obviously has a low tolerance for pain."
Thank goodness this insulted my parents and they asked to be referred to a University Hospital. I was referred to Duke Medical University Urology Department. I was immediately diagnosed with an "enzyme" problem and transferred to the care of Dr Stephen Kahler. Dr Kahler was my Dr for almost 10 years.
At this point it is important to say that my health, while important to me, was not what I was focused on. I wanted to be like everyone else--not different. I focused on boys, school, then college, my first job, etc. I met my husband when I was 25.
Under Dr Kahler's care, I had MANY, MANY, MANY tests. So many that I can honestly tell you that I don't remember exactly what they did. One of the last things that Dr Kahler did before leaving Duke for Australia was a muscle biopsy that was sent to Dr Richard Kelly at Kennedy Krieger in Maryland where I received the diagnosis of membrane limited LCHAD. [I honestly don't know what the difference is between membrane limited LCHAD and LCHAD]. I have also been to Children's Mercy Hospital in Kansas City where studies were done to try and determine why I do not have the same cardiac involvement as most LCHAD patients.
At one time Dr Kahler had me on L-Carnitine, but I was eventually taken off that supplement. I was also on MCT oil for quite some time until I participated in a study at Children's Hospital of Philadelphia where it was determined that I was not metabolizing the MCT oil--this was done through urine and blood samples. So now, Drs have determined that I do not metabolize long or medium chain fats-- they believe that in all likelihood that I do not process short chain fats either.
When I married my husband, he worked as a staff photographer for a local newspaper. However, shortly after we were married he received a promotion to editor and eventually we started moving quite a bit for his career. Because of frequent moves, it has been difficult to find or keep doctors or/ specialists especially ones that had even heard of LCHAD, much less knew anything about the disorder. Plus, I have actually been relatively healthy. I average about one major "crisis" every two to three years that requires hospitalization. I have come to learn that a "crisis" is usually triggered by one or a combination of the following: fasting, physical exertion, and/or physical or emotional stress. So, I try to do the right things, listen to my body, eat a healthy low-fat, but well balanced diet, and RELAX. It doesn't always work--but again, most of the time I do OK.
When I refer to a "crisis," I am talking about an episode that begins with muscle pain starting in my lower back, then proceeds to the rest of my body. I usually can not move, not because I can't, but because the pain is so severe. My CPKs run over 50,000 during these episodes so I'm hospitalized and placed on fluid therapy to relieve stress to my kidneys. A crisis is usually accompanied by difficult breathing, tachycardia, and/or arrhythmia.
I have "sick muscles" regularly, when my CPK is probably over 1000. But because these happen frequently, and I don't plan to spend my life in a hospital, I bulk up on high sugar or fructose foods and drink lots of fluids and ride out the pain. I will usually feel back to normal within 24 to 48 hours.
As far as my heart goes, I have a left to right shunt, slight regurgitation, and occasional arrhythmia--nothing really severe.
As far as my eyes and RP. I have not been diagnosed with RP; however, I do have "night blindness" and avoid driving after dusk. According to my parents, I had 4 eye surgeries as a child to correct "crossed eyes"--none of these I remember. I am VERY far-sighted with an astigmatism and have to wear glasses.
My husband and I made the very difficult decision not to have or adopt children. Not just because of the genetic risk, but also because we both doubted [even though I hated to admit it then and still do] that I was not capable of handling the "physical" demands of parenthood.
I have "recently" [ie., last 12 months] started to experience extreme fatigue. My general physician and neurologist, who really doesn't know the first thing about LCHAD, have ruled out the normal causes of exhaustion--the only thing remaining would be the normal progression of this disorder. So, a couple of days ago I started doing some on-line research into lipase enzyme supplements-- that's when I discovered the FOD Family Support Group. I have spoken with Deb Gould and she put in contact with a local specialist in the Atlanta area--Dr. Fran Kendall. I have [had] an appointment with her on May 4th. I'm really excited--I haven't seen a specialist in quite some time. I'm looking forward to finding out what's new and see what her thoughts are on this new symptom.
Anyway, I hope I haven't exhausted all of you with all this BLAH, BLAH, BLAH. I look forward to keeping in touch and will be thinking about you and your families.
51, Membrane-Limited LCHAD [Juvenile On-set]