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#Genetics #Birthday #Doctors

Hi everyone. I emailed the receptionist for the genetics department & she told me that she has a June 21st appointment open. Granted I work that day but the significance of that day is it's my birthday. It will be both weird & awesome at the same time. Let me ask the audience: Have you ever had an appointment that just happened to be on your Birthday? Tell me in the comments below.

P.S I hope I didn't steal any mighty leaders thunder with that question.

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Chasing Ghosts

#MentalHealth #PANSPANDAS #Anxiety #AutoimmuneEncephalitis #Genetics

Our son’s story of finally getting diagnosed with Pediatric Acute-onset Neuropsychiatric
Syndrome (PANS)

It was 2013 when I found myself at the local library thumbing through a book about Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). I was scanning the pages for a solution on how to “fix” our son but nothing in this story sounded familiar. My husband told me I was chasing ghosts and maybe he was right. But I was still slipping into a yearlong obsession to find answers.
At the time, Chris was six years old and we had already weathered through a handful of disturbances. With little guidance from our pediatrician, all of Chris’s issues had been explained away. The night terrors, the constant infections and fevers since birth - all were “normal”. But it wasn’t normal to us - he was having two or three a night terrors a night and their effects were spilling into his daytime life; he was exhausted, anxious, and started panicking every time I left the house. We were eventually given the anxiety diagnosis and Chris started meeting with a child therapist to learn how to talk down to his “brain monsters” (if only it had been that easy). Our pediatrician also offered an anti-depressant and we declined. He was only six years old and none of this felt right. A final blow, the pediatrician asked the dreaded question, “Does anyone in the family have a history of mental illness?”. I found myself confessing that at the same age, I also had panic attacks and separation anxiety. I explained that it eventually went away, however, as an adult, it morphed into a generalized anxiety that would rear its head during times of high stress and interestingly, during times of illness. In that moment, after I confessed my little secret, Chris’s health issues seemed to be immediately filed under the “Apple doesn’t fall far from the tree” folder or at least that’s how it felt.
Through all of these appointments what was never discussed was Chris’s health history. His actual medical file, if anyone had bothered to look, was full of emergency room visits and hospitalizations. By three weeks old Chris spiked a 104 fever and was rushed to the hospital for a full septic work up. He was admitted for five days until the fever subsided. Bloodwork was inconclusive and we were sent home only to be readmitted four days later when another high fever spiked. No explanation from either hospital stay but now our nerves were rattled. In addition to the random high fevers, Chris’s first year of life was riddled with ear infections; ten in ten months to be exact, and two burst ear drums. By the time he turned three, the high fevers seemed normal to us. And then there was the Cervical Adenitis episode - an infected and inflamed lymph node in the neck. After a CT scan and another scheduled surgery, his lump was eventually drained under anesthesia and we were sent home with a three month supply of antibiotics and zero explanation of how or why this happened.
These medical events from Chris’s infancy and toddler years were never brought up during therapy sessions. And I wanted to know how these awful fevers and infections were related to his night terrors and his growing separation anxiety? These questions wouldn’t leave me and instinct finally started to kick in. I had to stop shying away from pushing the doctors because I was embarrassed about my own history with anxiety. So that’s how I ended up at the library surrounded by medical journals that I barely understood and stories of children with Obsessive Compulsive Disorder (OCD) that came on overnight.
Life marched along for us and we started chalking Chris’s anxieties to him just being “difficult” or “overtired”. However, after Chris’s 11 year old well visit, life as we knew it would be thrown off course for good. This visit included two booster vaccines (DTap and Meningitis) seven antigens at once. The appointment had been on a Friday and by Sunday night Chris was feverish and complaining of a headache. On Monday the school called, Chris was having a full-blown panic attack and I had to come get him right away. I took him straight to the pediatrician and after a quick eyeballing of his state (dark circles under his eyes and ghost white skin) and a glance at his file (you know the one) the pediatrician dismissed us with a “maybe he’s just afraid of shots” comment. This was the norm for us now. Any time I questioned the connection between Chris’s health and his anxiety I was told again and again that “anxiety just runs in families”.
Chris sat on the couch that afternoon and sobbed and sobbed.... for hours! I had never witnessed anything like this and that night he started having night terrors again and every night after that for the next month. The school mornings became torture; we had to scrape him off the floor and wrestle him into the car. This was a new hell for our family, the intermittent night terrors and separation anxiety was one thing to deal with, but this, this was sheer awfulness.
I started chasing ghosts again, but this time I saw them for what they really were; our genetics. With the help of a few selfless academics that took the time to answer my desperate emails I was pointed in the right direction. And that direction was 50 miles north in Boston. The day had finally come and we were seated in front of a doctor that specialized in PANDAS and PANS. He listened to me rattle off Chris’s symptoms, illnesses, lumps, fevers, the whole time he patiently took notes. I had been bracing for the mental illness confession but instead I found myself answering questions about my mother’s sisters that had rheumatic fever as children, my grandmother (their mother) that suffered from debilitating rheumatoid arthritis, and my own mother who had Polymyalgia rheumatica. It was becoming apparent how relevant it was that Autoimmune Disease ran on my side of the family. This doctor discussed with us that Chris most likely had a fever syndrome as an infant and toddler (random fevers and cervical adenitis were hallmarks of an autoinflammatory disorder called Periodic Fever, Aphthous Stomatitis,

Pharyngitis, Adenitis (PFAPA)). We walked away that day with a diagnosis of PANS. The next stop, tonsillectomy and antibiotics. The ghosts had spoken!
Chris had not inherited an anxiety disorder; he had inherited an immune system with a roadmap that had mistakes. Slowly, he started getting better. The night terrors disappeared and along with them, the day time anxieties.
For our son, symptom onset was not overnight. He had so many health issues starting the first few weeks of life, which continued throughout his early childhood. His body was in a near- constant state of infection and inflammation. Add in his medical history to a family history riddled with autoimmune and strep-related health issues and it is no wonder that our son has PANS/PANDAS.
Today we know the flares will come but we now have a plan. We have doctors to call for advice and treatment and we have a village of families just like ours that we can reach out to. Our hope is that all of this hell that Chris has been through has some purpose. I hope his story resonates with a parent out there searching for answers. It took our family 11 years to get Chris diagnosed and on the path to healing. I hope someone reads this and the time it takes to find help is cut in half. Please remember that the ghosts and secrets we carry with us are there for a reason. #Parenting #Gaslighting


Any #bipolarparent with a #bipolarchild notice that your cycle affects the other? #BipolarDisorder #Genetics

I'm bipolar type 2 (diagnosed 1995) with a 21 year old son, diagnosed type 2 when he was 14 (by doctors- I knew when he was 6-7). I have noticed that when one of us is cycling high or low, the other seems to follow the pattern- even when he lived 2 hours away! I can predict when he is going manic or crashing based on how I feel. I know women who live together often end up with synched menstrual cycles. But are synched bipolar cycles a thing?


What questions should I ask the geneticist on first visit to determine /confirm EDS and type. #EDS

Going to the geneticist for the first time and I’m not exactly sure what information is important to share , and what are good questions to ask.
#Genetics #Zebras


The grand master plan #why #CowdenSyndrome #Parenting #emotional pain

Hubby reminded me that we got TWO genetics consults with highly regarded geneticists when, after child two, we first considered the possibility we had a problem. Each gave us the go- ahead to go ahead and keep having children, so we did. Well kid number six is pretty profoundly impacted (genetic consult number three and four)
Number four finally found the problem.
What is the lesson? There is a grand master plan- god had a reason for bringing the children to this world and obviously it wasn’t meant for us to find out earlier. This helps soothe some of the ferocious amount of guilt I feel-. #Zebra #cowdens #Genetics #Guilt #Parenting #ASD #god #why


Has anyone ever had a doctor‘s office hang up on you?

I tried to call Baylor Genetics in Houston because my rheum just told me to call and get an appointment, but when I called the lady asked what the diagnosis was and I was trying to explain that I wasn’t sure because of some things. She then hung up because I was saying I wasn’t sure what type of genetic counselor he wanted me to see. I don’t know why but this made me so upset. :/ #Doctor #Genetics #HypermobileEDS


Folks that have gone to a geneticist

So in a few months I am going to a geneticist to hopefully tell me if I have EDS or not. Any advice on what to say or not to say? #EDS #Hypermobility #Genetics #Anxiety


It comes from me.

His eyes, his smile, his face, his dna comes from them. His personality, his character traits, his eating habits, his thought process comes from me. As I start the day watching his every move I notice how when he laughs his face looks just like his fathers. When I end the day watching his every breath I notice he sleeps like his mother. During the time that fills the in between I notice his loving heart, his picky eating, his stubborn will to do everything different. He’s been given his dna and his looks to him by them, but everything else comes from me. He watches how I treat people day in and day out. He watches my dedication to him and his well-being day in and day out. He knows and see how I love and care for him day in and day out. All the work that I do all of time that I put into raising this child and they can swoop in and take him whenever they want. I sit at night watching him, taking in every detail of his face for fear that they would take him from me. I can’t do anything to change this, I can’t change the situation. I watched my parents do it for years before my sister was adopted and I never thought I would do the same. I love this little boy more and more with every breath I take. I watched him enter this world and never would I thought that I would have become a mom that day. #DeadBeat #Genetics #NaturevsNuture #Raisingsomeoneschild #Parents


My daughter’s paediatrician has no concerns my granddaughter has Down syndrome - will not make referral to a geneticist although recommended at birth #DownSyndrome #Genetics #Referral

Right after the birth of my first precious granddaughter was born-the doctor recommended my daughter see a geneticist as the area above nose between her eyebrows was flat. As she grows so do my thoughts that she has Down syndrome-but when my daughter asked her paediatrician - response was she doesn’t need one. Physically I see many features of Down syndrome but don’t want to alarm my daughter
I know a diagnosis will not change the love we have for her and the incredible joy she brings us. But I think early diagnosis will lead to early intervention.