Our story

Dec 24, 2020

By: Lori


My son J is 20 years old, 6’3’’ 328 lbs
Jacob’s father and I were 28 when when Jacob was born. It was an unexpected pregnancy. He has a brother who is 5 years older than him. At our 20 weeks ultrasound we found out he had a chloride plexus cyst. He had 5 follow up ultrasound to follow the size of the cyst. It gradually got smaller, but did not disappear. He was born at 35w+6d and was 8 lbs 11oz. (covered in vernix) on Feb 12/2000. He started sleeping 6 hrs straight at a time from the first day, while still in the hospital. He was a happy, quiet, calm and sleepy baby (low tone). He turned over late and crawled late and walked late, but not to the point that it raised red flags at the time. When he finally walked he walked on tip toes. He often preferred to be alone. He slept in his crib and bed. Not with us like his older brother. He was always small and thin with a normal height. He would not take the initiative to do things, he need prompting. He was 9/10 months old when he said his first word “bubba” his brother was in his face constantly trying to get him to say it. His speech development seemed fairly average. He was referred to as sweet, but very shy and tired we often found him hiding and asleep and was diagnosed with depression in kindergarten. He wet the bed until about age 13 when he was slowly weaned off the DDAVP that was given for Nocturnal enuresia. He has always been chronically fatigued, for instance he could not ride a tricycle around the block. He would just say he could not go anymore. He never road a bike. His fatigue was very noticeable once he started school PE, he was often sent to the principal for throwing a fit because he would not participate in the PE program. He begged me to understand that it wasn’t because he didn’t want to do it, it was that he just could not do it. In 2008 when he was 8 years old he changed it seemed overnight. Gone was our mild, quite, happy boy. Replaced by a moody, angry, irritated, child having meltdowns, suicidal and homicidal fits. He was hospitalized in a children’s psych ward 11 times from age 8 to 14 his last discharge was January 1, 2015. He was diagnosed with anxiety, ADD, bipolar type 2 and with Asperger’s during this time. He also gained a lot of weight because of the psych meds. He started seeing a endocrinologist and was diagnosed with insulin resistance. She sent him to a geneticist who tested him for prater Willy which was negative. And Diagnosed thyroxine-binding globulin deficiency, Because of a SERPINA7 gene Mutation. He started seeing a pulmonologist Diagnosed him with obstructive sleep apnea with severe central sleep apnea, and a year later with narcolepsy. And after that an asthmatic cough. He saw a rheumatologist who diagnosed him as Hyper-mobility because of his super stretchiness, muscle and joint pain. Dermatologist, Keratosis Polaris, Poliosis (auto immune loss of pigment in hair.) pediatrician diagnosed him with migraines. Podiatrist diagnosed him with Severe foot pronation with pes planus (extremely flat feet.) In January 2016 he began another bout of extreme fatigue with nausea and I had him tested by the pediatrician for mono, it was negative. She said she was not qualified to treat him because his case was too complex and referred him to a pediatric rheumatologist, The second one he’d seen, She diagnosed him with amplified muscular skeletal pain AMP or AMPS, juvenile arthritis and psoriasis. he also sees a dermatologist. He saw a pediatric gastroenterologist for belly pain and was diagnosed with an enlarged liver and spleen and GERD. But his fatigue, nausea and body aches and pain’s continued. His insulin resistance continued to worsen. And his weight continued to inch up. He had hypoglycemic events (his worst low was 28) but his blood sugar was never high enough to diagnose him as diabetic. He than aged out of pediatrics. So he had to stop seeing his endocrinologist. His regular headaches began to become more frequent during this time. His adult rheumatologist diagnosed him with rheumatoid arthritis serum negative, said he had fibromyalgia which she said is basically the same as AMP. They ran a battery of test to rule out things so they they could treat for the rheumatoid arthritis/psoriatic arthritis. We suspected Lupus but they did not feel it fit but said we will see. Medications tried and stopped were pregnzone, plaquenil, xeljanz, olumiant, Taltz. His insurance changed when he turned 19 and we had to find new specialists. His fatigue has been so bad some days he can’t get out of bed, and he sleeps 12 sometimes 20 hours a day. His daily nausea is so bad he occasionally vomits. He also had itching and increased irritability and brain fog combined with worsening headaches. His new rheumatologist found his liver enzymes were very high and got him in to a gastroenterologist who found he had a positive AMA (anti-mitochondrial antibody) indicating PBC (primary biliary cholangitis). He then had a liver biopsy that showed he had NASH stage II almost stage III liver disease. He had an endoscopy, with no clinical findings including no celiac disease. His cardiologist diagnosed him with sinus tachycardia and said that he had extremely mild cardiomyopathy enlargement of the heart (he said nothing to worry about). His endocrinologist found he has hypopatutarism (Low testosterone (115) low LH, Low FSH, High prolactin. He is now on testosterone injections, and his fatigue had lessoned to some degree. He had a pituitary MRI showing he has a chiari 1 malformation and empty sella syndrome, EES. They suspected intracranial hypertension. His headaches are intense and his nausea is unbearable. He spent 3 days in the hospital due to his sever headaches. He Follow up with the neurosurgeon and his latest brain MRI showed not only the Chiari but a C2 retroflexion and the CINE MRI Showed he had good flow, still trying to determine if Brain surgery is necessary. Full spine MRI’s showed mild scoliosis and mild kyphosis straightening of the cervical spine and three herniated disc’s, among other abnormalities. He has tried a occipital nerve block for his Daily severe headaches, it did not help. He had a lumbar puncture that showed opening pressure was 21 though not high enough to diagnose IIH his neurologist decided to treat him for it anyways because the headache he had was relieved when they lowered the pressure to 15. We went to a Neuromuscular neurologist, kind of by mistake, and she did some genetic testing and exams, Nerve conduction study and EMG. She found he has muscle weakness, no reflexes in his ankles and feet, and no signal in his ankles and feet, and drop foot. He had a muscle biopsy, it showed he had some atrophy. The biopsy ruled out DMD. The doctor said it only showed an unspecified myopathy. His genetic testing came back with a COL6A1 variant (uncertain significance). His father also carries the same variant. In July Jacob was rushed to the ER with the inability to feel his hands and an altered mental state, he had extreme anxiety said his face was melting and monsters were watching him, they treated him with IV fluids, steroids and an antipsychotic medication. His symptoms resolved after a few hours. He was diagnosed in the er with Acute cervical radiculopathy. In hindsight I think it was a Possible seizure. He had an appointment with a geneticist back in February. Their findings returned that he has a mitochondria Mutation, MT-ND5. At the time I knew nothing of mitochondrial disease. So took him at his word. Of course as you can see I am my sons advocate! I started doing research! My son has more than three system areas affected. His quality of life is poor. The diagnosis of mitochondrial disease fits. Neuromuscular doctor said that it is MELAS, And Mitochondrial myopathy. And that based on my symptoms, and Genetics I also have it.
I am not well, I have depression, diabetes, a fib, mild cardiomyopathy, and enlarged aorta, High blood pressure, psoriasis, exercise intolerance, muscle pain and cramping, fatigue, fibromyalgia, arthritis, non Epileptic seizures, and TIA. Extreme sensitivity to Metforman. NASH, and a neoplastic pancreatic cystic Lesion. I also have ITGA7 as well.

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