So Friday was the day that I took Abey to Children’s Human Genetics to meet w/ Dr. Nielson. Dr. Neilson works very closely with Dr. Bradley Tinkle – who is a world reknown doctor that has done and is continuing to do extensive study on Ehlers Danlos; which is what Abey and I were diagnosed with on Friday.So you ask..
According to the Ehlers-Danlos National Foundation,
“Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms.”
The doctor was amazing – it was such a good appointment. We were there for just about 2 hours. So many questions were answered and its so nice to have things make sense and to not feel like I am completely nuts! The appointment was for Abe – but it was with human genetics, and Ehlers Danlos is inherited in an autosomal dominant manner. Most people diagnosed with the syndrome have an affected parent- in our case – I am the lucky one 🙂 Each child of an individual with EDS, hypermobility type has a 50% chance of inheriting the disorder.
We were taken through the Beighton scale – (not sure if I spelled that correctly). Its a clinical “test” where the doctor examined both Abe and me physically and moved our joints every which way. He did a couple of things with Andy, but soon didn’t work with him any longer as his body definitely doesn’t move the way mine and Abe’s does. He also asked what seemed like a million questions. Soo many answers were given! It was truly awesome. Family history questions, so many questions about things I have always wondered were “off” and now I have answers!
Praise God – he said that typically with boys it gets better with age. Which makes me feel sooo much better about Abe. Hormones play a huge factor and as boys get stronger and testosterone levels increase, the joints and connective tissues will get stronger. He did say, however, that with women, its the exact opposite, and gets worse as women age.Hormones, aging – aint it grand being a girl? HA – sike! Which answers so many questions about myself – why the past few years have been more than rough with so many symptoms coming out of the woodwork.
Some of the issues and symptoms that Dr. Neilson and I discussed about me were the following; (again, Abey obviously can’t tell us what all he is feeling,etc)
– Awful stomach issues – my stomach is always “TO’ UP” – seriously! This has gotten so much worse over the past few years. (found out that that gastrointestinal issues are the number 1 problem with this condition due to the stretchiness of the connective tissue in the GI tract and digestive system) You have no idea how awesome it is that I learned this – eating very small meals (and of course whole clean foods) can help.
– Joint Pain – this has gotten significantly better since my dedicated practice of Pilates (the doctor even told me that my practicing Pilates is my “saving grace” – and that it is my physical therapy. He said that many patients with EDS have symptoms that mirror fibromyalgia and chronic fatigue/pain syndrome and do physical therapy to strengthen their core and get their posture and alignment in order – HELLO – That IS Pilates! He said that my Pilates practice is just about the best thing I can be doing for myself). THAT – is a total GOD thing if you ask me, how much I was drawn to and am obsessed with Pilates.
– Jaw issues – I have always had the “lock jaw” or TMJ and jaw dislocations, have actually gotten better over the past few years.My whole mouth is a mess. He made me do a “test” with my hand and my mouth – I was able to pretty much dislocate my jaw to get my entire fist in there.. NICE, huh? I know.. gross 🙂
– Stretchy areas of skin – he said mine wasn’t that bad – but Abram’s was more so than mine.
– Autonomic Nervous System~Dysautonomia ( I could have this spelled wrong, I am not that versed on medical lingo) This is due to the extra elasticity of the blood vessels. THIS answers sooo many questions!! I can’t remember his exact wording, but it takes longer for the blood pressure to lower in my entire body when I stand up, or sit up from lying down. It does in my head, but then takes longer everywhere else. This explains my constant dizziness, and seeing black spots every time I get up,headaches, my low blood pressure, cold hands and feet that always seem to fall asleep.I almost faint constantly – but I think alot of it, I have just learned to deal with. I am supposed to constantly drink water – or Gatorade, but Gatorade has way too much sugar – so I need to UP my water intake tremendously
– Fatigue,anxiety/depression – I am always always tired – like all the time. I always feel bad and think its just because I am not the best sleeper, or because I have 2 little boys, and 2 jobs – but even when I sleep good. I still feel like it takes everything in me to get thru the day… I hate that and am so jealous of people that seem to have energy. IE – my husband 🙂 It has some to do with the joints being so laxed, the the muscles have to work twice as hard to do what they are supposed to be doing; which in turn makes you tired. The doctor always said that about Abe- could have been one of the reasons why he has always been the best and LONGEST sleeper; and I guess answers why I am always tired. I have always had anxiety and depression issues – which again, have gotten soo much better with Pilates!!
So, in a nutshell, the appointment was fabulous. It helped answer a lot of questions. It was hard with Abe to know everything because of his age. He said Abe will most likely need occupational and physical therapy when he gets a little bit older, but for now to “keep and eye on him”. With Abe being just 2 – he can’t tell me if he has headaches and is dizzy, etc and alot of those other issues.So we will be able to monitor him more as he ages. I am so thankful that the doctor said that the boys get “better as they get older”.. I was not that worried, but I am glad to know that besides being crazy hypermobile, that hopefully he won’t have too many challenges and issues to deal with as he grows.
Anyway.. Abe’s audiology appointment is not til June. I am hoping that appointment goes just as well as Friday’s. I think Abey hears just fine.. but we are covering our bases and hopefully the appointment will prove that all is A OK.
God answers prayers – I prayed long and hard about that appointment on Friday. And it turned out great – I found out Abe will be just fine, maybe a few challenges – but challenges usually turn into blessings in disguise. I also got soo many questions answered about me. I am so thankful for my love of Pilates..and as Dr. Neilson said – it being my “saving grace”.
Dr. Neilson wants Abram and I to be part of a study he is doing on Ehlers Danlos syndrome. He was a little wigged out but “excited” about my crazy joints and popping my shoulder out, elbows, etc and I LOVE that they are doing studies to find out more about this condition. He seemed very passionate about it. And of course, Abey’s little body is fantastic to observe. I am definitely going to partake in the study, we will see what all it entails in regards to if Abe will take part. Not sure I want my 2 year poked and prodded and giving tons of blood, but we will see. The more we can find out, the better.
Like the saying goes – “Knowledge is Power” – and in this case, it sure is!
Last but not least – I found a great blog about a girl who has EDS – its called http://www.lifeasazebra.com/ – Apparently, the medical term “zebra” is what In medical school, students are taught to diagnose patients based on the condition that’s most likely. This idea goes along with the saying: “When you hear hoof beats, think horses, not zebras.” The horses are the likely explanation, while the zebras are less likely. A medical zebra, then, is a person with a rare medical condition. Her blog is awesome and inspiring. When I read all her symptoms and her story – although hers is much more severe than mine – it all made sense. And I found out on her blog – that apparently MAY is Ehlers Danlos Awareness Month! So there you have it 🙂