For the past many months I have not wanted to blog. I had this big parenting thing going on and I didn’t know how to ignore the giant elephant in the room while telling the stories I love to share.
Last spring I decided to close my beloved needlepoint business. I was faced with a change in our schedule I didn’t see coming. I loved being in the needlepoint business and I was sorry to walk away and I was also grateful that I was able to put my family first. My husband and I were taking turns flying weekly to Boulder to accompany our youngest child Courteney to doctors appointments. After 11 years of a variety of rather mysterious symptoms, we knew that momentarily a diagnosis was finally coming, and we didn’t want our 22 year old to be alone in a doctors office when it arrived.
Scotty and Courteney in high school at The Inn at Westview Farms
Our journey started eleven years ago, when our tall, lanky, extremely healthy soccer player began complaining about her neck, by the third day I finally looked to see what was going on and realized she had an enormous (flat lemon sized) lump on her neck. Our Vermont family practitioner immediately concurred that this was both a serious and an unusual problem and called for a specialist. Before that appointment came to fruition, Bells Palsy set in. Luckily for us, the office doctor on call told us to go to the Dartmouth emergency room, where Courteney was immediately admitted. My panic started when I was questioned about getting an orthodontist to the hospital in the middle of the night to remove her braces so they could do scans for tumors. Luckily a secondary plan was created and no tumors in her neck were found. Long story short, the head of one of the pediatric departments at Dartmouth told me she had “no idea” what was wrong with Courteney and was discharging her so we could find other help. (Terrifying statement coming from someone with multiple medical degrees and the top job at a magnificent hospital.) Luck came again. My favorite high school boyfriend had become a world renown critical care pediatrician and researcher. My “Hi, I know we haven’t seen each other since 1982 but could you please help me?” email was so kindly and generously received. Within hours he arranged for an immediate appointment with the top pediatric ENT specialist at Boston Children’s hospital. Lyme was found, treatment was a success, and within days my striker was back on her middle school soccer team.
Our journey down hospital hallways and sitting in doctor’s waiting rooms did not end there. Almost two years to the day after healing from Lyme more symptoms appeared. Severe fatigue and muscle pain being the most prevalent and challenging. My husband would be the first to tell you with a smile that I am the pushy New Yorker in our marriage. (This is funny for various reasons, especially because a childhood in Westchester doesn’t make me as New Yorker-y as my midwesterner might think…but I take the title with pride.) I began the process of trying to get to the bottom of what was going on with my girl. This was the child, who on a normal day, could and would climb anything, run circles around her 6 older siblings, and could nail anything yards away with a soccer ball or a basketball. Alarmingly, I would find her crumpled on the floor with exhaustion. At the time we lived in a big old higgledy piggledy farmhouse right in the middle of our Vermont town. I would find my high school daughter “resting” quietly on the old pine floors of our galley kitchen which separated the two ends of the house. She was never seeking attention or being dramatic, she would just quietly lie there, trying to muster the energy to go find one of her brothers.
We began the search for answers. I arranged for her to see every specialist I could think of…We visited a pediatric infectious disease specialist, an allergist, and pediatric Pulminary specialist. We saw a pediatric teen specialist and an orthopedic surgeon (for her severe back pain). The naturopath we visited found two things, she was severely anemic and that she had tested positive for previously having mononucleosis. With the exception of the naturopath, every doctor told us she had either A.) Chronic Fatigue Syndrome or B.) “Nothing is wrong with her and teenagers spend too much time on their phones. She just needs to sleep more.” The allergist was stumped and suggested giving up gluten. The orthopedist assured us there was nothing wrong with her spine. In every instance Courteney was devastated and often concerned that the doctors were missing something very serious like cancer.
A visit to the Isabella Stewart Gardner museum.
I became that mother, that really big pain in the ass. I became that mother that doctors look at weirdly wondering “Is this one of those Munchausen Syndrome by Proxy women we learned about in medical school?” Courteney asked me to go to doctors offices with her after she turned 18 because she felt that no one was taking her seriously, whether it was because she was young or a female, she was unsure.. She had given up trying to explain her symptoms and the timeline because she felt she was given a pat on the head and sent on her way. She preferred me to be the aggressive one, trying to tell every symptom hoping that some doctor would be triggered into trying to find something new. We got nowhere. Absolutely nowhere.
All too often we found Courteney snuggled up in exhaustion or pain. Our dogs however thoroughly loved all the attention they received on the couch!
In the fall of 2019 my husband and I were concerned. After planning to transfer from College of Charleston to CU Boulder, Courteney got word she had been accepted into her dream opportunity, the NOLS Tanzania program. She would head to Africa between colleges, hiking across the bush and climbing Kilimanjaro, the highest mountain in Africa. Would she take iron if she needed it? Would our once very energetic athlete make it to the top? We were concerned as she boarded her flight across the globe. Several months later we were shocked when we met her outside of customs at Logan airport. She was 20 pounds heavier and stronger than we had ever seen her. Off she went to start her new college. Weeks later we began to hear about this disease which was killing Italians and shutting down villages in our favorite country. A couple weeks after that she was home with us, dormitories closed, and a global pandemic was crossing our planet at a rapid rate. While Courteney was flying to Florida to Don, I was at John’s Hopkins saying goodbye to my brother. Hopkins thought he was the first Covid patient, within days they realized that he was not, he was dying in part from the autoimmune disease Sarcoidosis which was taking it’s toll on his body after decades.
While we had not given up on finding a diagnosis for Courteney, we were learning to cope with her condition, while trying to figure out our next strategy to find help. A bought of severe low energy and continued back pain sent Courteney to the medical center at CU Boulder searching for an iron test. Never in a million years would any of us have guessed that a nurse in a college health clinic would solve the problem that numerous specialists up and down the eastern seaboard missed over and over and over again. Courteney received a call a week later from this nurse, that on a hunch she had run a test for a genetic marker that sometimes attaches to white blood cells called HLA-B27, and that Courteney tested positive for carrying the marker. She told Courteney she suspected that she had an autoimmune disease called:
Ankylosing Spondylitis.
What the every loving fuck?!
ELEVEN years of diagnosis searching, after meeting Courteney for ten minutes, a nurse at her second college medical center ran a blood test none of us had ever heard of, that no doctor had ever mentioned, and discovered Courteney had a genetic marker we never knew existed. That was a lot to take in. We could not get over that this woman knew what we did not, we were overjoyed to have a direction to point ourselves, and we were devastated to hear what it was. Not one medical professional had ever even uttered the words “autoimmune disease” in eleven years! Every night after this news I would hang up with Courteney, google new medical terms and sit and cry at my desk. How was it that my brother and my daughter had seemingly unrelated autoimmune diseases? Were they unrelated?
Left to Right - Tricia, Courteney, Puddy, Henry, Gay, and Phil. Gilford, Connecticut. Several years before we knew how serious Henry’s autoimmune disease was or had diagnosis for Courteney.
It was at this point I closed my needlepoint business and my husband and I flew back and forth to Boulder every other week going to appointments with her to confirm a diagnosis. The rheumatologist we saw first old us she didn’t have Ankylosing Spondylitis. He was all proud of himself for telling this young woman and her mother that she was fine. He was not proud, he was really just incompetent. When he commented to me that Courteney was teary because she was so happy, I informed him that no, in-fact, she was teary because he didn’t figure out her diagnosis. Never giving up, we went to a spinal specialist who took one look at Courteney’s chart, spoke to her, and looked her in the eye and said “I know you have it, you know you have it, and now we need to find the evidence to prove it.” And that she did. For the first time ever, a doctor did an MRI of Courteney’s spine. And there, all along was the evidence, hiding in plain sight, arthritis in the back of a 22 year old.
Courteney is currently being treated at Cleveland Clinic in Vero Beach by a rheumatologist who is nothing short of being a rockstar. She put Courteney through her first significant battery of tests which not only confirmed time after time again that Courteney has Ankylosing Spondylitis, she has also discovered two other medical connections which are fascinating but not harmful to my girl. One of these medical conditions explains some of Courteney’s amazing athletic abilities: Marfan Syndrome.
I share this story for a variety of reasons and with Courteney’s blessing and encouragement.
Our family wants you to know these five things.
A.) Trust your gut.
B.) If you feel no one is listening, bring an advocate with you who will speak up on your behalf.
C.) Don’t be afraid of what people think of you. If I had been actually worried about the whole crazy mother with Munchausen Syndrome by Proxy, I would have been waiting for my 18 year old in the waiting room instead of fighting for her over and over in the office.
D.) If you have an undiagnosed and untreated medical issue, do not give up. Keep trying to find the best medical help available to you.
E.) Communicate well with the nurses, this is the fourth time our family has been very successfully diagnosed by a nurse filling out the forms you do when you arrive.
And if you are a doctor or a nurse, thank you so much for everything you do. Thank you for all of the years you spent in nursing/medical school and the great expense and time you took to hone your craft. We are in this for the long haul and we won’t be able to do it without you! We appreciate you!
Consider reading up on HLA-B27, Ankylosing Spondylitis, and other autoimmune diseases if you feel you or a loved one has odd symptoms and are not finding answers to your questions and concerns.