Dear friends, old and new, if you have known me longer than 4 years… you know I have been searching for answers about my son and his strange collection of heath problems that he has had since birth. I have taken him to numerous doctors all over Texas, blogged about it, cried to many of you about it, posted on fb about it… and then eventually just stopped talking about it because we never could find answers. I have been accused by doctors, daycares, teachers, friends, some family and coworkers of old jobs, that I am “making it up”, have Munchausens, that my anxiety is making him sick, am crazy, I spoil him, he needs a good spanking… you name it I’ve heard it. Well, Owen is sick again. Really sick. He’s lost 47 pounds since September. He has many many other symptoms that I’m not allowed to share on fb (hes 15 now and I respect his wish for privacy). But his main symptom is weight loss, muscle breakdown and weakness, and stomach pain. I was so worried about him that after 4 years of “no more doctors” I broke my promise to owen and made an appointment with Texas Tech Pediatric.After a few tests, xrays, a stomach emptying study and blood tests… we returned today for results. And if you know ANY of our story, you will know that I was not expecting results!!!Well…..After 15 years of worrying, crying, praying, dragging him from dr to dr to doctor… we got not one… but FOUR answers that lead to a SO NEW ITS NOT EVEN NAMED syndrome. It’s super similar to Ehlers-Danlos Hyper-mobility syndrome… but he also has Autonomic Nervous System Disorder that is attacking his organs and muscles… and a type of connective tissue Disorder. The other is Lateral something (I heard so many words today I can’t even remember.)So, why ami telling you all this? So I can sleep tonight…. Because I am overwhelmed and need to see it all typed out in order to try to make it real to me. I still feel like I am in a dream…. and not a great one. Yes! It’s good to finally have some answers after all this time. Yes! I wish we could have found it sooner. No, owen is not feeling better… we start a new medication tomorrow but if he looses any more weight the dr may want to admit him to the hospital. It’s been a long road getting here, but at least we have some road signs for the rest of our journey. I will be blogging about it soon in greater detail, if you are interested I can message you the link later. i can’t believe it’s been 15 years of mystery just to be solved with a simple X-ray that shows a small space in his neck!!!! thank GOD! I can deal with that. Goodnight
Author: Robyn Ann
Finally heard back from Genetics in Houston. I can’t begin to tell you how frustrating it has been to get results from the blood tests Owen had done back in November. But, 14 weeks later… our first round of good news. So far, everything came back Negative/Normal. No Fragile X syndrome, no Mitochondrial Abnormalities, Nothing missing in his chromosome count…What does this mean? It means we are ONE MINI STEP closer to helping him feel better. The next step is to delve deeper into his genetics.. the resident explained it like this: The first round of testing they are looking at the Chromosomes like Books. Going through and making sure all the books are in order then checking each chapter to make sure each chapter is there. In this NEXT round of testing, they will look closely at each chapter, paragraph by paragraph… checking for spelling errors, punctuation, and structure errors.
I am extremely relived that he does not have some glaring genetic disorder, but I’m still anxious that this is still a nonanswer. I have taken time to think through and discuss these results with Owen, and we are both encouraged that this may mean his symptoms are really all in his head… or neck more specifically. With the Genetics Doctors blessing, we will begin to pursue a consult with a neuro surgeon to look into the three possible causes of Owens worsening Dysautonomia, chronic fatigue, brain fog, POTs and Gastroparesis. These neck issues are his Atlantoaxial Instability, Cranial cervical Instability, mild Chiari Malformation and possible tethered cord syndrome… all of which may possibly be semi fixed with extensive surgery.
Am I ready to start thinking surgery? Not at all… but if it means I will be getting my son some relief and help for his ever increasing problems? Absolutely. Please continue to pray for my boy as we start on this next leg of our journey. Pray that his Medicaid doesn’t hinder us finding the perfect and best doctor for these procedures. Thank you all!
Dear Momma….
Dear Momma, take a breath.
Hold on to that and feel your lungs ache.
Let it out slowly and listen close.
YOU ARE DOING ENOUGH
You can not fix your child in one day.
You can’t even fix your child in 3 years.
The task of searching and researching is going to last a lifetime.
You will never feel you have done enough
you will never feel settled again
you will always want to do more, be more, learn more…
YOU ARE DOING ENOUGH
Don’t place the blame on yourself
you did not create this illness, syndrom, disease within your mind
you will not cure it with your diligence and exhaustion
You must rest between appointments
you MUST laugh and be silly with your child
you MUST make life as normal as possible
you must show your child that this illness is not all there is to them as a human
Dear precious momma… you are enough. Remember that.
The Begets of The Pain
If you are at all familiar with the bible, you know about the lengthy verses of “begats” that list the fathers, grandfathers and great-grandfathers of men like Abraham, Job, Issac, Boaz… Well, in my processing of Owens’s complicated medical history… I have decided the best way I know how to tie it all together is to make it a timeline of sorts… even a begets type of history. Even though I am starting to trace the genetic history of some things down through family lines, I am only going to share the history of Owen with you today. Maybe this will help explain it better to those of you that are a little more interested in the actual education of this horrible mess.
So, here goes:
- Ehlers-Danlos Hypermobile Syndrome: A rare congenital and genetic disease called Hypermobile Ehlers-Danlos Syndrome started this whole thing. ¶Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscle and bone) pain. While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[1[2][3] (Ehlers-Danlos Syndome (EDS) is a hereditary connective tissue disorder that typically presents with stretchy skin and joint hypermobility, frequent dislocations, and pain. There are some genetic tests but the diagnosis is usually based on a clinical evaluation by a geneticist or rheumatologist. There are many variants of EDS yet the most common variants are hypermobile EDS (formerly type III) and classical EDS (formerly types I and II). EDS, especially the hypermobile type, appears to be common in patients with autonomic dysfunction. Observed vascular abnormalities in patients with EDS may link EDS to orthostatic intolerance. Cranio-cervical instability and Chiari malformation are also seen in patients with EDS and may contribute to autonomic symptoms. Further research is needed to find the etiology of autonomic dysfunction in patients with EDS. It is important to note that not everyone who has EDS develops autonomic dysfunction.)
Owen most likely was forming properly in the womb, but due to his large gestational size (10lbs) and the way he was positioned in the womb, the last 2-4 weeks is where the real trouble began. I say that because my daughter, I feel, also has hEDS but hers presented in a hip dysplasia that was corrected with a full-body cast the first 8 months of her life. She only weighed 6pounds 13 ounces at birth and was breech most of the 9 months in the womb. Her hEDS has been different from the very start… and that is why she has never been formally diagnosed with it and if it hadn’t been for her brother we most likely would have never known the reason for her hip and other strange symptoms.
Back to Owen; those last two weeks of my pregnancy I was so large I couldn’t drive a car (couldn’t touch the peddles after scooting the seat back far enough to allow room for my enormous belly). I tried to lay down as much as possible to take the pressure off my belly and the baby. Owen was born by emergency c-section on December 19th. I was in active labor the morning I walked into the hospital for my scheduled c-section, however, the moment they put the monitor on his they were alarmed by his low heart rate and rushed me back that minute.
2. Atlantoaxial Instability Type 3: ¶Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality. [1] Neurologic symptoms can occur when the spinal cord or adjacent nerve roots are involved.
This is where it starts getting confusing and terrifying.
From what I understand, because he had hEDS and the combination of the pressure from him being so large and the way he was positioned over his neck caused a malformation in his cervical spine. This caused an opening of about 5-7mm big, which in turn caused his spinal cord to protrude a minuscule amount. Now, whether the compression of his spinal cord was caused by a difficult delivery of his huge head (they had to use a vacuum and forceps during a c-section!) or if the actual compression took place before he was even delivered; well, we will never know.
He was born with a blood clot in his mouth, had trouble breathing at first, was taken to NICU for the first 3 hours for monitoring, had trouble maintaining his temperature, had a hyper startle reflex and was severely Jaundice. It wasn’t until he was 15 years old did I learn that these were all symptoms of spinal cord trauma.
When Dr. Bell first started to explain AAI to me I was so busy connecting the dots of Owens life to this condition and had to return many times to have him re-explain it to me again and again. Owens Autism, pain, limb weakness, bobble-head, trouble sitting up and crawling as a baby, temperature problems, etc… could all be traced back to this damage to the spinal cord?!?!
BUT
AAI can not be fixed in patients with hEDS. hEDS causes laxity in the ligaments surrounding the neck. The ONLY thing keeping Owen from having to wear a neck brace for the rest of his life is his neck muscles, and surgery could cause damage to those muscles, even cause his symptoms to be worse!
3.Dysautonomia: ¶Dysautonomia is an umbrella term used to describe several different medical conditions that cause a malfunction of the Autonomic Nervous System. The Autonomic Nervous System controls the “automatic” functions of the body that we do not consciously think about, such as heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye, kidney function, and temperature control. People living with various forms of dysautonomia have trouble regulating these systems, which can result in lightheadedness, fainting, unstable blood pressure, abnormal heart rates, malnutrition, and in severe cases, death.
a) Postural Orthostatic Tachycardia Syndrome (POTS) – estimated to impact 1 out of 100 teenagers and, including adult patients, a total of 1,000,000 to 3,000,000 Americans. POTS can cause lightheadedness, fainting, tachycardia, chest pains, shortness of breath, GI upset, shaking, exercise intolerance, temperature sensitivity and more. While POTS predominantly impacts young women who look healthy on the outside, researchers compare the disability seen in POTS to the disability seen in conditions like COPD and congestive heart failure.
b) Gastroparesis: is a disease in which the stomach cannot empty itself of food in a normal fashion. This is a common condition in people who have had diabetes for a long time, but it may also occur in other situations. Gastroparesis is caused by nerve injury, including damage to the vagus nerve. In its normal state, the vagus nerve contracts (tightens) the stomach muscles to help move food through the digestive tract. In cases of gastroparesis, the vagus nerve is damaged by diabetes. This prevents the muscles of the stomach and intestine from working properly, which keeps food from moving from the stomach to the intestines.
***I’m going to stop here for today, I’m becoming overwhelmed… to be continued…
Where to Start?
To sit down and start typing out the story of Owen in its entirety from day one… is incredibly daunting. It’s such a hard story to tell, especially when even I don’t always know what’s really going on.
I thought about starting at the beginning because that’s really where it starts, at birth… with his neck… and I will get to that part of the story eventually… but not yet.
Or do I start in the middle? Do I start where we came home from Cook Children’s with our tail between our legs feeling ashamed and defeated by doctors that would not take the time to listen to us?
Maybe I should start with last December, where he was too sick at his stomach to go to family Christmas? Start with the fact that he was already becoming painfully thin and ill but I didn’t realize it because he stayed in his room all the time wrapped up in sweaters?
I don’t know. I am just going to have to pick a place, flip the last 16 years through my mind and stab my finger into one and just go.
It’s not easy, it’s not fun or even all that interesting to anyone but me… but here’s our story, here’s my son.
Welcome (Back) To Our World
Hello, if you are new to this whole journey… welcome!
If you are familiar with our past struggles and health mysteries… welcome back!
Im not going to elaborate on this particular post, but all the details of Owens illnesses and the process will be updated on this blog and I would love for you to join us on this journey.
I have been accused lately of not letting people in, not letting my friends know how bad we are in need of help. So this blog is going to be my way of letting you in. There are posts on here from years ago, you are more than welcome to read those as they validate the history of Owens pain and my struggle to find answers and help for him.
Thank you for being a part of our lives.
Please share our GoFundMe link
https://www.gofundme.com/f/help-give-owen-hope
Mothering
He’s 15, lying on a gurney in the ER. We’ve been here for hours waiting for someone to tell us… anything. We’ve done the MRI we’ve explained to a hundred people what’s been going on, answered a thousand questions… and so.. we wait.
My boy has been so brave and strong throughout this whole 4 month process of blood tests, xrays, mris, biweekly dr visits and med changes… he even continued to stay strong when the nurse put in his iv.
It was the resident looking into his sore ear that broke him. Not because the pain was that tremendous… but because she wouldn’t stop and he’d had enough.
His face started to crumple and tears welled up into his eyes, and then my poor 15 year old, 5’7″ , baby boy started to wail.
My urge to comfort him came from somewhere deep within me, somewhere primal… if he was newborn I could have nursed him; a toddler I could rock and sing to; a small child I can crawl up into the bed with and hold him. But this poor sweet sobbing man child looked so lost and alone, so small and vulnerable that I longed to do it all! Rock, hold, nurse, soothe. It was such an overwhelming and helpless feeling to watch my son break and hurt so deeply.
I watched and helplessly rubbed his face as he cried for a little while. All the months of frustration and pain pouring out of him, and then as quickly as it started he stopped, once again my strong stoic young man.
But me, I’ve cried off and on all day this next day. The memory of his face, the recall of that helplessness I felt, the worry and frustration of his pain and more nonanswers from doctors that don t know.
I just want to hold him and tell him how proud I am of him. But he’s in his room closed off from me and back in his cocoon of friends and video games.
I hope he knows that he is the only reason I breath. I hope he understands someday that his pain is felt in my very core. I hope he knows that I cry to… for him.
Red Legs
Something happened yesterday, something happened within my soul, my heart, my very being… I got mad… well first I panicked then I cried… THEN I got mad.
Owen had come into my office where I numbly sat staring into the past in my newest obsession, genealogy. ( my new coping mechanism).
He had come to show me a funny meme, he’s always showing me funny memes he finds on the computer or Ipad, and this one was funny I swear. But in my helpless funk that I’ve been in since his first initial diagnosis… I vaguely remember laughing softly and not really understanding it. Because… well I had just spent the last 12 hours worrying if he was even going to wake up. I worry about things like that these days. I worry he’s dying in front of me and I’m not doing anything to stop it?
I first heard his “diagnosis” three months ago. And, with that diagnosis, or at least with this new doctor that finally had answers and made sense to this puzzle, I finally was able to relax a little and feel confident that Owen really is sick and I am validated in my worries. Then… as I tried to comprehend all this new diagnosis entailed… I slowly slipped into this helplessness, this overwhelmed numbness of sorts. Then even more symptoms started popping up. Bruises started appearing on his face and back, lethargy, muscle wasting, more weight loss, headaches, depression, and irritability. As I began to feel better about having some answers… Owen was getting worse.
This latest visit rocked me harder than usual. He had lost 9.5 pounds in two weeks and had a new pressure sore on his back where there is no fat to protect his skin from his shoulder blade. His spine hurts, he almost passed out from taking a shower, and his legs feel heavy and sluggish. He tells the doctor all this during the visit.. but this was the first I had heard about the shower. I heard him say all this, and I heard the Doctor explain the reasons behind all this.. things like “blood pooling” “dysautonomia” “autoimmune” “Ehlers-Danlos Hypermobility”..but I didn’t really hear all that, I heard it… but I was really only focused on one thing… we had blood drawn after our last visit. Blood to test for one main thing… and that main thing was all I could focus on… and he had just said NOT CANCER.
I heard that it wasn’t cancer, so I was relieved. See, I know cancer. I know it well, I understand it, I can research it and fight it and respect it. So I can understand cancer. What didn’t really register at that moment was the explanation for his hurting legs and back.
We leave the doctor, I am giddy with the news of no cancer, I shoot out my mass text and post to facebook NO CANCER… Then I start really looking at Owen. He’s sad. Sadder than he was before, and the words start sinking in: weight loss, dietician, metabolic disease, eat more, do better, see you in two weeks.
I return back into myself. My thoughts go dark, and the question that had been circling my mind for 15 years returns… What is Wrong With My Boy? What did I do to cause this? Why is he sick? How can I fix this? I’m watching him wither away in front of my eyes and I feel so totally alone and powerless in this whole situation. I tell Laurie and Nick both “If I just knew what we were fighting.. then I would fight! At least I know how to fight cancer and I can feel proactive in fighting that!”
(I know what you are thinking… and I know what you are yelling at the screen right now, “But ROBYN you DO have answers!!” and you know what? I know that now… as of this hour… but for a while there I had slipped my head under the sand and did exactly as the doctor had instructed so gently when we first heard… I had let him worry about it for now.)
So here’s where you see my transformation of sorts… here’s where you see the change from numbness and helplessness to anger and pain.
Owen is showing me that meme, remember? As he shows me the meme I notice his legs, super skinny, slightly hairy, all knobby knees and long toes… and bright lobster red.
“Do your legs hurt baby?”
“They always hurt”
“Are they hot?
“No they just hurt”
“Oh wow! they are really red! and hot!”
“Mom…”
“Can I take a picture to show the doctor?”
“Mom, stop… leave them alone…”
“stay still… just a picture..”
“fine”
“Ok, I just want to show dr bell this…”
(Picture)
“Can I go now?”
“Yes”
(He’s back in the safety of his room…)
I’m thinking.. thinking… thinking, I’ve seen his legs do this before. I’ve seen these bright red legs before, when was it? last year? Last summer? I remember it was in Target and it alarmed me then, but we had no answers at that time, no doctor Bell to show, no way to know if this is normal for Owen.
Then I do it… I start googling.. and I quickly go from googling “really red legs” to (what was that one diagnosis Dr. Bell keeps saying? Oh Yes, Ehlers-Danlos Hypermobility and Dysautonomia) really red legs in Ehlers-Danlos Hypermobility… and up pops the gut punch of information that Dr. Bell has been trying to tell us for 3 months Ehlers-Danlos Hypermobility, and Vascular EDS-H.
You know, I could sit here and explain every gory detail of what it says on the EDS-H website… and if you really want to know, go read it yourself… here:
I can’t do it.. not just yet, I can’t explain it in all the details you need… every single symptom hits like a dart in my mom heart.
In that moment of googling and researching and reading all this new information, really reading it and realizing that this is a CHRONIC Lifelong and sometimes FATAL condition that Owen will deal with for the rest of his life… I suddenly feel very very alone in all this. I realize how alone and so very scared Owen must be in this!
Surely there is a support group somewhere for us? Someone out there has to know what we are going through!
I start searching, I’m crying and panicking and frantically searching… it’s now 2:30am and I am in a state of fear and loneliness like I have never felt… and then… I find it:
The Ehlers-Danlos Society
And just like that, I have a name. I have something to hate, to fight, to research…
And I found resources, people, a whole community of doctors, patients, parents, and support.
There is a conference in Nashville, Tn in August. We are going. I am ready to arm myself with knowledge, to take back the power, to do everything I can to help my son fight this crazy, painful, life-robbing illness. I am ready to be a warrior, a caregiver, and a team member to this wonderful God Send of a Doctor. No more meek mild blasé mom… Those red legs are not going to put such fear in me that I numbly sit by and watch it do damage to his heart and arteries… nope, those red legs are now making me angry! Super mad! And I will do my damndest to fight those red legs… and to make sure my boy lives his best life despite this illness.
My Boy
I’ve been blaming myself this whole week, punishing myself actually.
I’ve been thinking that he’s not talking to me because he’s angry with me, or hiding something…
We got home from the doctor… he walked into his room, closed the door and went to bed.
The next 5 days he has stayed in his room, door closed, talking to his friends on the computer and sleeping.
I thought he was angry with me for even taking him, for making him do more bloodwork… but that’s not it at all.
It’s because he’s terrified.
It’s because he’s just like me.
When I get scared, worried, depressed… I pull into myself. I retreat into myself and hide. I stop talking to most people. I’m quiet with all the others. It’s not because I’m mad it’s just what I do.
Every time someone asks me how I did it, how I survived (such-and-such), it’s because I have always hunkered down, deep down, into my core… and think, hide, process, survive.
He’s not mad at me… he’s processing.
He’s just like his mom, and he’s a survivor.
The Front Burner is Hot
One storm has passed, another storm is waging… in the middle of it all, I have my own inward battle with chronic pain and Fibromyalgia. My dad is fine, we got an all clear… relief flooded me like a tsunami, I felt elated and exhausted, happy and tired all at the same moment. I can now put my dad on the back burner and move my son to the front.
Just a word of advice, when the doctor tells you NOT TO GOOGLE… DONT!!
The guilt I feel for not bringing him to a qualified physician sooner is overwhelming. And the paralyzing fear I feel upon watching that doctor examine him.. Butterfly like bones in his back, pelvic bones protruding, unable to keep his balance, belly pain and fatigue… my child is wasting away in front of my eyes and I was so focused on my dad and myself that I didn’t even notice?!?!? What the HELL? What kind of parent sticks her head in the sand and doesn’t notice a 47-pound weight loss?
The doctor was very kind to me, he claims to understand my reasoning… we have had a very traumatic past history with doctors and their nondiagnosis and nonanswers, but I still can’t help but feel guilty for letting him get to this point.
I don’t just fear a diagnosis on Tuesday.. I also fear another NONanswer. There are so many questions.. So much strange history to this child. Why can’t he run without throwing up? Why are his muscles breaking down? Why does he want to eat but he can’t? I need answers, not just for me… but for him! I want him to live to be a quirky old man with a strong opinion, a colorful past and tons to teach the world… Not just have a tiny life in his bedroom with dogs and a mom for his only companions.
So as I heard the Heart doctor explain that dad is in great shape and this is his new “Normal”… I instantly was able to switch from the role of concerned daughter to that of worried mom. The hat color may have changed.. but the stress got darker and deeper.
Hope for Owen 