My son’s diagnosis led to my own

Posted June 30, 2020

Abigail and Smith's story of diagnosis of Ehlers-Danlos syndrome

My hEDS story is completely intertwined with the story of my oldest son, Smith Elliott (now 4.5 years old). He is the reason I am aware of my diagnosis which has changed my life in a very profound way!

From the time Smith was 12 months to 2.5 years old, we spent a lot of time in and out of the pediatrician, varying specialists (2 different GI docs, Cystic Fibrosis clinic, general surgeon office, etc) and the hospital for sedated procedures trying to figure out what was wrong with Smith. He had chronic and severe constipation that was not “normal” by any means (although some doctors told me constipation in a baby can be normal). He had some other weird symptoms happening, but nothing as severe or troubling as the constipation. I wasn’t going to take, “I don’t know why your son has constipation” or “Constipation can be normal”, for an answer. I was a momma on a mission! So…I forged on for the health and well being of my poor little baby.

He was in pain, he cried a lot and he was irritable. I had to find an answer.

Over the course of those long 18 months, he had too many x-rays and doctor’s appointments to count, 5 sedated procedures and an inpatient colon cleanout – you know the ones that adults have to do right before a colonoscopy…where you drink a gallon of “golytely” to cleanse your colon. He had to undergo an inpatient cleanout due to a severe backup that Miralax and enemas wouldn’t touch. He was awake and NPO (no food or drink) for 48 hours with a tube stuck down his nose. The nurses, after 3 painful and traumatic attempts, could not get the NG tube to insert properly, which led us downstairs to yet another procedure, guided fluoroscopy. The radiologist had to use x-ray to properly place the NG tube. Watching them attempt to shove a tube down your baby’s nose several times with blood all over makes you feel so helpless. He was so scared and kept crying “No mommy, no!” And after the tube was placed, they started that horrible “poop Juice” (this is how we explained it to Smith). And then the medicine kicked in…which not only made him have diarrhea, but it also made him extremely nauseous. So, here is my 20 pound, 2-year-old in a crouching position, dry heaving (remember, no food), and having bowel movements at the same time! It was traumatizing to see my little baby go through this horrible experience.

The cleanout was successful, yet he continued to struggle with constipation despite being on Miralax every day. After the cleanout, he ended up with another severe stool burden a few months later. I told the doctor I would go to the ends of the earth to find a reason why Smith was not well…but I never wanted to do that inpatient clean out again because that is where we were headed! (Of course, we would if he needed it). My pleading got me a referral to the GI specialists at Cincinnati Children’s Hospital for yet another…you guessed it…sedated procedure! We had the most amazing physician (shoutout to Dr. Ajay Kaul) sit down with us and ask all the right questions. It just takes the right person in the right room at the right time to change your life in an instant. Dr. Kaul sat down at eye level with me and asked me what keeps me up at night about Smith with so much compassion and he let me talk.

I started telling him everything. He’s clumsy but flexible, he is constipated, he gets rashes and has “eczema” but has no allergies, he complains of different joints hurting, he bruises easily, he’s really small (considered failure to thrive at the time), much smaller than his twin brother, etc. He heard all of those things and then asked me about my developmental history and did the Beighton Scale on me and Smith in the pre-op room. He asked, “Have you heard of Ehlers-Danlos syndrome. I bet you and your son both have it and that’s what is causing his constipation.” The sedated procedure took an hour which gave me plenty of alone time with Dr. Google in the waiting room to convince me this is exactly what we have and that we were indeed EDSers. I realized his constipation is caused by faulty collagen, which is the building block of our connective tissue. His connective tissue is too lax in his gut, therefore his colon is not able to effectively push the waste around the digestive tract resulting in severe constipation. He is now managed with medicine and no more hospital visits!

I know I haven’t even gotten to me yet…but without Smith’s story, I wouldn’t have an EDS story to tell. Smith and I both visited with a geneticist at UK hospital in Lexington, KY (shoutout to Dr. Apostolos Phsychogios) per the recommendation of Dr. Kaul at Cincinnati Children’s Hospital. He said he knew from the moment he shook my hand I had EDS. I didn’t know an EDS handshake was a thing…but apparently I have one. So, in July 2018 my journey with having an official diagnosis of EDS began. It was one of the most validating moments in my life. I was so grateful and sad at the same time. Grateful to know the “why” for my son and myself, but sad it took this long for me to figure out for both of us. Smith had to endure a lot over a period of almost 2 years at such a young age.

After officially being diagnosed with EDS, I sent an email to Dr. Kaul at Cincinnati Children’s to thank him for the profound discovery. We only saw Dr. Kaul that one time, but I will never forget that man! I was sure he wouldn’t remember me because he sees so many patients, but I wanted him to know he changed our lives forever and that I was grateful from the deepest places of my heart for his time, compassion, and expertise.

Some people ask why I didn’t seek a diagnosis for myself sooner? I didn’t know how. I had never heard of EDS (although it is so clear now that I have it)! Nobody ever connected the dots for me like they connected the dots for Smith. I have had a lifetime of weird stuff. But they all seemed “isolated” to the doctors. I am 37 but some days feel like I’m 87 (was 35 at the time of diagnosis). I have joint pain, have had multiple surgeries on both knees, I am extremely flexible, double-jointed, have cataracts, receding gums with 2 failed gum graft surgeries, chronic fatigue, history of ENT issues and surgeries, bladder issues, female issues including infertility, preterm labor, constipation, anxiety and depression, a recent diagnosis of Attention Deficit Disorder, and a long laundry list of other issues with the rest of my tissues. I have always felt “broken”. Some of my symptoms, like the gastrointestinal issues I have suffered with, were often chalked up to, “I think it may be anxiety”. I always felt like nobody was listening and felt “broken”. Nobody ever connected the dots! But because of Smith and Dr. Kaul, my dots were finally connected and I realized, I’m not crazy, I’m not making this stuff up, and it is real.

The VALIDATION is amazing! Now that I know what I am dealing with, I have a completely different approach to my health and am able to tackle it head-on. I now do low impact exercise regularly, eat an anti-inflammatory diet, know what supplements to take and I know how to better take care of my son. Despite our challenges, we are still so blessed! I am so grateful to have been properly diagnosed so I can tackle our disease head-on and be a healthier version of myself for Damien (my husband) and my children – Smith and Shawn (my twins) and their younger brother, Parker.

I am not only a proud wife and mother, but I also am a daughter to an incredible mom, sister, best friend, aunt, Godmother, audiologist, entrepreneur, photographer, crafter, and lover of the Lord. I have EDS but I am not EDS. Having a proper diagnosis is not lost on me as I understand many are still struggling with no answers. I have vowed to take my knowledge and love for research, continue to learn, and be the best advocate I can be for Smith, myself, and the rest of the EDS community!

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