The backstory

Updated from GI APTWe know that Addyson did not pass the 1 minute balloon expel test, which is a suggestion of a defecatory disorder. We are still waiting for the definitive results from hopkins. It could be as simple as a pelvic floor dyssynergia or a defecation disorder. This is one of the two tests she needed done to rule out a nerve ending / muscle issue, so now we wait.  

Updated from Mt.Washington
Ethen was given a full diagnostic test, the results are Autism, ADHD and DMDD. We are working with his team (KKI, Pediatrician, school clinician, psychology and psychiatrist to ensure we are headed in the right direction and providing him the supports needed. 

Busy week Journal entry by michelle daugherty — 8/28/2017

We have a busy week this week with the kids and their medical appointments. Tomorrow we get results from Ethens 4hr mt Washington diagnostic testing. 
Wednesday ethen has appointment at Hopkins with Orthapedic surgeon to discuss options for his leg misalignment. After this Addyson has one of the two additional Gi procedures she needs done. This one will be the most invasive of the two and she is not thrilled about having to do it. I will keep you updated as we get Results 

Ethen kki pmr appointment Journal entry by michelle daugherty — 8/17/2017

We had our follow up with Ethens kki team. They noted misalignment in Ethens legs along with his low tone and hyper mobility. We now have an appointment with a pediatric surgeon for November to discuss treatment for the leg misalignment. This could be surgical or bracing options. We have no idea yet what surgeon will say

Two upcoming Procedures Journal entry by michelle daugherty — 8/15/2017

A little more of an update from Thursdays APT. Addyson is off her clinical trial meds for her Fever Syndrome. Pulling her off of these, resulted in a fever episode. It lasted for 3 days. She is feeling much better now. 

As far as GI here is the two procedures she will be having done. We have to do these to rule out a few things as her colon is already full just one month after surgery. The GI doctor is determined to help us figure this out.

http://www.gikids.org/content/109/en/anorectal-manometry

http://www.chp.edu/our-services/gastroenterology/patient-procedures/capsule-endoscopy

She has been doing her cleanse since last night, it’s not going as well as planned. 

She will also now be on a GERD diet, along with her daily reflux meds, miralax and ex-lax. We are considering restarting the clinical trial meds for the Fever disorder should the fevers continue to return.
Post surgery update Journal entry by michelle daugherty — 8/10/2017

Addysons Gi dr is not happy with how backed up her colon is already. Two more procedures are being scheduled and another clean out and she has to go on a special diet. 

Goodbye clinical trial Journal entry by michelle daugherty — 7/19/2017

Update: Addyson is being pulled off her clinical trial Meds. While this is not what we had hoped for it is the path we currently have to take. The trial has worked great for the fever disorder and she has come to know life without a periodic fever disorder. While she has had some breakthrough fevers they were nothing like before. 
Another med….still no answers Journal entry by michelle daugherty — 7/13/2017

We have another small update. We know that Addyson is still suffering from GERD even though they said she would outgrow it by age 2. Her cimetidine is nice because this medicine was supposed to work for her Reflux and her fevers (this is the NIH Clinical trial Med). We will add reflux medicination in now ontop of her Cimetidine. We still have no real answers yet to the colon issue, why her colon continues to fill up and cause pain often. This has been happening since NOVEMBER 2016. We have XRAY to show the colon full…no one can seem to tell us why this happens even with us using MIRALAX and EXLAX daily, she still fills up. She is not withholding bowel movements, she goes when feels the urg, yet her colon becomes full, distended and causes pain. I just wish we had some answers…..all of this and no reason yet. 😦 #wewillstayhopeful #thischildthrowsusforloops

Thank you all Journal entry by michelle daugherty — 7/7/2017

Thank you to everyone who has helped us through the past 30 hours 

To help explain Journal entry by michelle daugherty — 7/7/2017

We have gotten many calls from family and friends with confusion on what is wrong with miss Addyson. She started a new asthma med back n November then started complaining of chronic stomach pain. We were sure it was the asthma Meds. After a month of this we pulled her off those Meds. We waited for the pain to stop. It didn’t. We went to Childrens Gi. They didn’t do any test but added miralax to her daily routine. It didn’t help. In march she left school one day w fever and distended stomach. Pediatrician said to go to Hopkins we, we did. They did X-ray. Her colon was full. We took care of that and then just weeks later same thing again. That’s when we knew something was really an issue it wasn’t just her saying her stomach hurt. Hopkins Gi ordered tests to check for cancer parasites and more. Everything was negative which is good but still left us with no answers. Other procedures have been done up to this point. A full Gi clean out and colonoscopy endoscopy and one other test were performed over the past 27hrs. Her Gi said the biggest concern for her was dead nerve endings in her colon (this is really what the one dr thought). At this moment we know that biopsies were taken and we will wait the week for results. They tested spots from her throats through her Colon and rectum. Checking nerve endings and Checking for actual cancer via biopsy and not just stool sample. Etc. the next question is what is next if all of this is negative. It is not normal for her colon to keep filling up. Hoping for answers soon. 

Update from surgery Journal entry by michelle daugherty — 7/7/2017

addyson is out of surgery. Now we wait 7-10 days for path report of spots biopsied 

Background Journal entry by michelle daugherty — 3/2/2017

Pregnancy w/ addyson: Week 10 of pregnancy, 1st trimester scan….nuchal translucency scan looks abnormal, pull blood work on husband and I to check for genetic factors. Did CVS Test, it came back inconclusive. Week 16 decided to do AMNIO….found out we were having a girl and that she didn’t have a specific chromosomal abnormality which could be tested (IE: Downs, etc). All along we were told, we feel there is something wrong with your pregnancy, but we cannot confirm at the moment what may be wrong with your daughter.
At 31 weeks my water broke. We were able to enter bed rest and use magnesium to stop Premature labor and rupture of membranes. Addyson was born at 37weeks, with some heart/lung conditions. We also knew that there was a chance of a genetic defect, but we were not sure to what extent. 

Birth – first few months: Throughout her first few weeks we had some genetic testing, most tests came back all clear, but we knew this was because only a handful of things were being tested each time. We were hopeful that one day we would get a named diagnosis. She was in and out of the hospital for blue spells, high temps, etc. Diagnosed with Asthma and severe GERD as an infant. She had to have formula made from Hopkins, she threw up all other formulas. Heart and lung conditions were finally labeled, and being monitored/treated. Addyson was on a heart/lung monitor until she was 15 months old. It took us multiple hearing tests to find out if she could ear, she failed the newborn hearing screen. Her vision was a concern due to the tear glands not forming. We now know (2016) that her vision is fine, she just can’t produce tears. 

Addyson 9 Months old: She spiked a fever, which resulted in a febrile seizure. She had her 1st ambulance ride to BWMC. She was monitored and released. We kept her comfortable at home with Tylenol and Motrin. After this she started to get fevers all the time. We started tracking them and noticed that for over 9 months she would get a fever every 21-23 days for 3-5 days with no other issues, except fever. 

Addyson 20 Months Old: finally found a rheumatologist who evaluated addyson and diagnosed her w/ PFAPA and said that tonsil and adenoid surgery may make the fevers stop. We had this surgery performed at 22 months old. It worked for 2 full years. 
NOV 15: Fevers returned….monthly. At this point I didn’t know what to do, we followed up with rheumatology who said she may still go through the PFAPA fever cycles even without her T&A or they may have grown back. We checked w/ ENT and they had NOT grown back. We began to look into other treatment options. We found a clinical trial at NIH. 
FEB 2016: In Feb of 2016, we had our 1st apt at NIH with the research / clinical trial department. This was a very long day. Addyson likes to say we drove to NIH in the middle of the night. (It was really like 430am, but it was dark, so to her it was the middle of the night). Now anytime we go to NIH she says, please not in the middle of the night. We love her Dr at NIH, they immediately did GENE Sequencing / Mapping and found the defect in her MEFV GENE. She was a confirmed Periodic Fever Syndrome case. They started her on clinical trial medicines. Since FEB 2016-FEB 2017: she has had a few minor breakthrough fevers (May 2016 was a long one), but pretty controlled Fever syndrome at this point.

Ethen and Addyson’s Story

When addyson was first born we were told she would have some medical issues but no one could tell us what the extent of her issues would be. She was later diagnoses with febrile seizures, periodic fever syndrome, no tear glands, asthma, and severe gerd.

Ethen has Autism, Adhd, Ehlers Danlos (type 3) and DMDD.

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