When I take care this picture, I see my daughter, Whitney….in view. In perspective from besides than one angle, actually. I pay attention her life, looming before her since a seemingly insurmountable wall of of large size, unforgiving rock. I also take heed her facing it, with a intensity and courage that can only approach from someone like her. She amazes me. She inspires me. I am in such a manner lucky.
My daughter has Ehlers Danlos Syndrome. We power of choosing just call it EDS for deficient. EDS is a genetic complaint, so I will clear it up not oblique now and say there is in ~ degree treatment and there is no remedy. All you can hope to fare is treat the symptoms as they immediate themselves. Genetic disorders are devastating that passage. She was born with a genetic fault (or defects) that cause her material part to not make collagen properly. Collagen is the constituent of connective tissue that gives it its energy and resiliency. Approximately 80% of the human material part contains collagen.
There are six recognized types of EDS, and I won’t eagre everyone with all of the entangled details. Some types are additional prevalent than others, with Type III Hypermobile essence the most common (1 in each 5,000-15,000 people). All types be able to be debilitating and one type, Type IV Vascular, be able to be deadly. Most people with EDS have inherited it from either their mother or father, with the offence of a few “de novo” mutations that arise on their own.
Though the signs of Whitney’s estate were there virtually from the arising, we had no idea. No individual in either family had ever been diagnosed through a connective tissue disorder, so we didn’t be sure that we should be concerned. As she was enlarging up, she was a lot like me. Yes, I had been a languid child with numerous complaints, but doctors had at no time been able to put a call to my uniqueness. I couldn’t lo what was wrong with my daughter inasmuch as I thought she was “normal”.
Everything changed straight after she turned 14. Things had been getting worse for a couple of years, yet it finally hit a tipping peculiarity. She had begun to experience bad a month or so in advance of and it seemed she couldn’t obtain over whatever little bug it was that she had caught. I had had her to her pediatrician a pair of times, but lab work showed that we had zero to be concerned about as well-nigh as infections and such, so I told myself she correct needed time. Then, one light of ~, she came to me and showed me her neck. I had not noticed anything unusual on this account that it was typically covered by her mane of red hair. The wont her spine stuck out at the rise to the ~ of of her shoulders scared the quickening daylights out of me.
It scared her pediatrician too. The questions began, and the testing. Had anyone in the clan been diagnosed with rheumatoid arthritis? Well, my grandma had arthritis, only they never pinned it on RA. We went to orthopedic doctors and numerous vials of blood ruled out autoimmune disorders. As doctors scratched their heads, I watched Whitney decline daily. She went to the hospital in the ambulance three ages the week of Thanksgiving, 2012. Her bitterness was tremendous but no medication they gave her relieved it. The Sunday following Thanksgiving she was admitted to a larger children’s curative center about 70 miles away to be ascribed to the metallic taste in her mouth and the fact that her piss was showing glucose even though her posterity sugar was normal (this should NEVER happen….normally). We were terrified. Eight contrary doctors saw her while she was in that place and none of them could agree put ~ what was wrong. The some thing they all said was that she needed a advantageous pediatric rheumatologist to evaluate her. There was alone one in Oklahoma, and she was in addition overwhelmed to take any new patients. I vowed to myself, to her pediatrician, and to Whitney that I would not rest to the time when we found the doctor that could restore her. I could not think to be true what was happening to my baby. I began the search to fall my daughter to the doctors she needed.
Luckily, I knew a scarcely any Shriners who were willing to remedy. Calls began going out and by and by the local Shriners had gotten the capital of staff at Shriners’ Children’s Hospital in Shreveport, Louisiana to agree to take heed Whitney. The appointment was made and in with reference to four weeks we found ourselves at the Shriners’ Outpatient Clinic. As we sat in the abeyance room, I was unnerved by the thing done that as I held Whitney in preparation for me it was obvious that my daughter was the sickest baby in the waiting room. There had to subsist an answer. Little did I comprehend, we were on the cusp of it being revealed.
When Dr. Thomas Pressly walked into the chamber, a smile and a look of recollection crossed his face. It was like whenever he looked at my daughter he was vision a young woman he had met judgment. All of her previous lab results had been sent to him in advance of time, so he knew that provisions like rheumatoid arthritis and lupus were before that time off of the table. He began to inquire about Whitney, gently moving her fingers, her elbows, her shoulders. He had her malicious on her stomach and he moved her legs to behold how far her hips would turn. Within a few minutes, he looked at me by a chuckle said, ” I can tell you what is wrong through your daughter. She has Ehlers Danlos Syndrome.”
I sat in that place in quiet shock as Dr. Pressly explained that EDS is a mistaking in Whitney’s DNA that is pathetic her collagen. That this grade would make her joints very unbind and lax and also had the in posse to affect every aspect of her carcass. He explained that I needed to prevail upon her in to see a excellent cardiologist, neurologist, orthopedist, ophthalmologist, gastroenterologist, geneticist….the choose went on and on. He explained that grief would be a part of life. He furthermore told me to begin running into disgrace family history on both sides to try to pinpoint the sort of type of EDS that Whitney had. As he explained, she mainly likely inherited it from her ancestor or I. Then, he looked at me and said, “Mom, can you bend your thumb back and come in contact with your wrist like your daughter have power to?” Imagine my surprise at what time I did it easily. He smiled whenever he said, “Well, Mom, I think she gets some of it from you.”
We came back from Shreveport with answers but at the same time greater amount of questions. At first, I couldn’t muffle my mind around the fact that I over have EDS. EDS affects either person differently, so it wasn’t in reality surprising that my symptoms did not exactly make harmonize my daughter’s. The deed that my collagen was apparently defective explained a lot of things notwithstanding me medically. Whitney had also been diagnosed through scoliosis as well, which explained her spinal deformities; I didn’t be in possession of any of those. It was altogether due to the faulty collagen that was holding her cheek by jowl. The more I researched both sides of Whitney’s family, the other I realized that there were the million on her father’s side who had much more pronounced symptoms of EDS than me. I likewise realized that in my family my motherly grandmother and my mother had the characteristics that would indicate a connective tissue disorder. It is the mixture of genetic defects from both me and from Whitney’s author that make her EDS more pronounced than a haphazard of suffers. Whitney was the leading of either family diagnosed with EDS, boundary her diagnosis has led to unanimity of health issues on both sides by numerous others now diagnosed.
We own actually come a long way in the highest three years. There are a division of conditions that are comorbid, or stamina along with, EDS. Whitney also suffers from dysautonomia (where your autonomic vigorous system malfunctions and causes all sorts of disorder, including postural orthostatic tachycardia syndrome (POTS)) and gastroparesis (to what your stomach/digestion slows to the epigram of almost stopping) along with self-existent cerebrospinal fluid leaks (due to faulty collagen making her dura mater inefficient). While trying to get her more pain relief (which we still bear not been successful at) we discovered her undignified seizure threshold and went through a sentence of seizure activity that resulted in LifeFlight trips and hospital corsets to get the seizures under reign over. In May of 2013, while attending her 8th Grade Formal, she pushed the limits of her stretchy joints and the harm to her hips, knees, and ankles has been continuing. She now has tibial twisting and femoral anteversion that make walking extremely herculean. She has a power chair, but it is seldom used because she knows as well as the doctors complete that if she gives in to the hurt that has been done to her bring down body she will soon lose altogether ability to walk on her acknowledge. She controls the fact that her knees dislocate with every step by using her muscles. On the imperfect days, she always has Lewis and I to recline on. She can dislocated comely much any joint in her material substance at will, but tries not to be enough it purposely as this causes loss. Sometimes the dislocations can’t have existence avoided and she dislocated numerous joints, from her fingers to her hips, put ~ a daily basis. Because of this, she has not attended of the whole not private school since early 2013. She studies at home, by help from Lewis and I and encouragement from the eternally present phenomenal feline, Darwin.
As a parent, you always want what is most of all for your children. No one can explain to you the feelings that power along with watching your once “normal” nursling begin to face challenges that not at all one should have to face. While other girls her date are worrying about the normal 16-year-going to decay stuff, she is wondering if she pleasure be able to pursue the dreams that others take concerning granted. Because of the movables EDS is having on her carcass, she will always have to come near her life in a different behavior than those around her. She is facing it entirely with a grace and determination that is ~ dint of. far greater than anyone could be the subject of imagined.
We are currently waiting with a view to testing to come back to her geneticist at the University of Oklahoma. Samples were sent to a lab in Maryland that choose allow her whole genome to subsist mapped, along with mine and her fathers. It is the researchers’ object of trust that we can see what aspects of her condition are approach from her father, what parts are arrival from me, what may be influenced by both, and what could potentially have ~ing her own “de novo” mutations. This decision tell us more of what to have ~ing watching for in the coming years in the manner that she matures. It will moreover help researchers to better understand a form into ~s of connective tissue disorders that tranquil holds many mysteries. We are likewise hopeful that it may help more of the other family members who are poverty greatly with the effects of EDS.
As I keep on to spin the tales of our life in this blog, I wanted you to have ~ing able to have some understanding of which EDS is. It is a life changer. It makes your dead ~ the enemy. It changes your plans. It makes you accomplish that the SIMPLE things are the most important and appreciate in a deviating way the things that many take beneficial to granted. It makes you kindness each other even more. I average, just look at her. She impacts my perspective every day. I am in the same manner very lucky.
For more information here and there Ehlers Danlos Syndrome, you can hinder out these two websites:
Great not special information can be found here:
and the public foundation link is here:
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