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Asher's journey with TRAPS (Tumor Necrosis Factor Receptor Associated Periodic Syndrome).

Asher was born in September 2019 at 38 weeks gestation following a difficult pregnancy. Right after birth, Asher's color was way off.  He was black and blue and had issues with his heartrate and oxygen levels.  After a day in the nursery for observation, the deemed him healthy and we left the hospital 3 days later. 

It wasn't until December 2019 things started to take a turn.  One day after his 3 month injections he became ill.  He had a rash and a fever and was not acting like himself. He also developed weakness of his right side and his arm and leg seemed like they would " get stuck" in the same position at times. This continued until March 2020 before we knew something was seriously wrong.  He was sick constantly with fevers reaching 105. Each time his fever would come (every 2 to 4 weeks) he would get a rash and act like he was in extreme pain. He has widespread inflammation throughout his body including his organs, and even his eyes. These fever episodes would last anywhere from 3 to 14 days.  Every time he would become ill we would take him to his pediatrician and would leave with " its just another virus". At one point, it occurred over a weekend, we took him to urgent care.  They said we needed to get an oxygen monitor for home as they were concerned for his sats during his visit. We began using this immediately and saw his heartrate was always way too high and many times, his oxygen level was too low. 

Finally in March we had come home from the doctor and his condition rapidly declined. His tremmor-like activity was in full swing, he was lethargic, and did not want to open his eyes.  His doctor suggested Riley ER and that's where we went. Within minutes of being there, the doctor's pointed out his right side weakness and some of his tremmor-like activity and said it could be seizures. Of course he also had a temperature of 105.

He was admitted at this time.  The first night his sats were not looking good. Blood pressure through the roof, heart rate going from too high to too low and oxygen too low. They called in the ICU nurse and doctor to care for him and had a crash cart outside of his room in the event they would need it. From there they did so many tests to rule out some of the scary things that could cause a 105 fever that has lasted months. They suggest many things they suspected like types of cancer, " bubbleboy disease" and SJIA (Systemic Juvenile Idiopathic Arthritis).  His bloodwork was allover the place with inflammation markers high, t and b cells low, and many other indicators there was something wrong. The lymph nodes in his neck were the size of golf balls. An ultrasound of the neck confirmed they were in fact swollen lymph nodes and not masses. They did a MRI and CT scan of his head to check for any bleeds which could have been a result of his traumatic birth.  They did not find bleeding or evidence of masses.  They did however find he had mastoid effusions (Inflammation between the ears) and bifrontal extra axial spaces with cerebral volume loss. It is believed that he had brain inflammation at some point in time and as it went down, it caused the cerebral volume loss.  They also did an Echo where they discovered his left coronary artery is enlarged.  Because Kawasaki disease can causes some of these issues, it was considered a possibility. They ruled out many other diseases. They ran so many tests and ruled out some off the wall things like toxins from our farm animal exposure and other viral illnesses. 

After spending 5 days in the hospital, we were discharged without clear answers and we had follow ups with infectious disease, oncology, hematology, rheumatology, pulmonology, genetics, and cardiology.  

The first of our follow ups with with infectious disease.  This is when we started keeping a daily fever diary of all fevers and symptoms. It was this tracking that led doctors to believe Asher had a genetic disease called a periodic fever disorder/autoinflammatory disorder. They did several more tests and ruled out any infectious disease.  Of course all of this was going on at the same time as covid and they suspected he could have had the virus prior and this was the after affect. A antibody test determined he had not had covid.

Next, Asher was put under for an Echo which gave them the opportunity to see more clearly.  During this scan, they found not only is his left coronary artery enlarged, his right one is also too small and slightly out of place, pointing the wrong direction. Because of the inflammation in his other coronary artery and the causes not officially known, he is now on asprin every day.  He was getting scans every 8 weeks which continued to show increased inflammation.  With his last scan in September, we were thankful to find it had gone down some. He will continue to stay on asprin until we can assess this situation more clearly and find out the cause of both issues and whether they are related, or coincidence. 

Oncology and Hematology have been involved due to the lymph nodes and unknown factors.  They suggested genetic testing to determine other underlying causes. 

Finally, in May we had an appointment with Rheumatology where they confirmed his joints and bones have been affected with inflammation. They also found his liver and spleen are enlarged.  An ultrasound of the abdomen confirmed this and as we suspected, no masses were found. Rheumatology ordered genetic testing for Asher which would take 2 month to come back. In the meantime, Asher was taking prednisone with each episode.  It would help his fever go down, but didn't seem to help with the pain, nor did fever reducers. After a period of time, we were told to stop giving the prednisone because of the long-term effects it could have on him.

When we got the call that they found something it was bittersweet.  We were relieved because its hard not to convince yourself you're just crazy when your child is dealing with so many issues at once. We were also relieved because a diagnosis means there could be treatment. Asher's genetic testing found two things.  1: A variant in a gene called TNFRSF1A.  This variant causes a genetic disease/periodic fever disorder called TRAPS.  Instantly I knew this is what we has been dealing with for months. It fit to a T everything we had been dealing with for months.  It also found a variant in the gene ITGB2.  Typically other variants in this gene cause a disease called LAD-1 (Leukocyte Adhesion Deficiency). Both are horrible lifelong diseases. The type of variant Asher has in the ITGB2 gene is one that has never been seen before. They don't believe he will have issues healing wounds as most do with this disease but as of now, it is unknown how it will effect him or what issues he has it could be causing. 

Since May, Asher's episodes have been increasing in frequency and duration.  The muscle pain also seemed to be getting worse.

In June, Asher had a bad episode which again caused concerns with his breathing and oxygen level. The ER determined he had airway inflammation which was the cause of his cough.  Fast-forward to September, his cough had not gone away.  He was prescribed an emergency inhalor, daily inahled steroids and singular. 

The good news is that TRAPS has an FDA approved injection that can lessen (not cure) the symptoms.  The bad news, it is $17,000 a month.  We have so much to be thankful for as insurance has approved 4 months worth already. The medication comes in 10ml viles and he gets .1 ml every 4 weeks.  This is such a waste for such an expensive medication but because of the packaging, it cannot be reused once the seal is broken. Asher had his first injection October 14th and we are happy to report he has only had 1 minor illness since this time. We are hopeful insurance will continue to see the need for this medication as long as he needs it and as long as it helps.

Through all of these specialists visits over the last few months, Asher's condition has worsened. His episodes were occurring more frequently with less than a week between episodes and at times, lasting up to 17 days.  He has also started to have the tremors again during episodes which has caused concern for inflammation in the brain given his history and previous MRI findings.

In August, Asher had a visit with a well known Rheumatologist in Cincinnati where he is taking part in clinical trials and research studies. We are happy with his expertise and will meet with him every 3 months. Asher is now doing this at Riley as of last week as well. He is working with a Rheumatologist who focuses on genetic conditions. This doctor came from the NIH so we believe his experiences will help us navigate our next steps. His regular Rheumatologist is also wonderful and will continue seeing Asher every month to monitor his bloodwork, scans, and administer his injections.

Next week, Asher will be put under for a CT scan. They are checking his lungs and airway to find specific areas of cause for this chronic cough and chocking he has been experiencing since June. Of course we are assuming its from inflammation like everything else but have to rule out other causes. They are also checking his brain once again for inflammation and to check for changes from his last scan in March. It has been pointed out by several doctors that his forehead is very prominent and it seems to be more evident the older he gets. They have said this could also be related to another genetic condition that has not yet been found. 

As of last week, they are finally reanalyzing all of Asher's genes to determine if another condition has been missed. This boy is as rare as they come with so many conditions they feel there has to be a connection with these genetic conditions. I also went last week with Asher for genetic testing. Along with the bloodwork, they cut off a section of skin from each of our arms. They will start doing biopsies on different areas of Asher's organs to determine how they will react to a stem-cell transplant in the future if one should be needed. They said this is necessary since the inflammation in his body is systemic (meaning it is affecting all areas of his body). The latest bloodwork shows Asher's platelets are not normal size which is also consistent with LAD and delayed wound healing.  As I said before, we just don't know exactly what this means for him at this time. 

This has been the most difficult year of our lives by far. We have three other children who have been absolute superheroes in all they've had to deal with. We try to maintain as much normalcy as possible, but with constant appointments and bouts of  illness, it has effected all of us. My work schedule has been compromised to the point I had to stop working with many clients I adored (I am a Behavioral Clinician). I have had to weigh the option of leaving my career to stay home with Asher so he doesn't get exposure outside of the home. I am so thankful for my wonderful employer who has been so understanding and knows my babies come first above all. Asher's Ilaris causes the same reaction within his body as someone getting chemo as far as killing all of his cells. If he catches anything, he could become very ill. This is especially scary for us during Covid.  I feel like everyday is a fine line between locking all of us away from the world and wanting to go out and enjoy life. The constant trips back and fourth to Riley and Cincinatti have taken a financial toll. The mileage on my car has surpassed what I ever thought it could. You would be sick to see the hospital bills that have piled up these last few months.  It has caused me to lose more than a few nights of sleep. And as of now, there is no end in sight. But somehow, God keeps showing up in the most amazing ways. He is always has, and I know he always will. 

Until you are faced with the struggles of caring for a chronically ill child, no words can explain. This is even more so the case when your child " looks or acts healthy "some of the time. Believe me, you would not want to be here on the bad days. It would break your heart. There are days where my husband and I are fine and well, but there are others days we aren't. I have learned it is ok to be sad and down about being dealt a difficult hand, but as my other in law said to me last week, you can be down for a while, but you can't stay there. All we can do is keep our faith. Everyday we wake up we have to make the choice to either dwell on the bad, or to find the good in things.  

To those who have continually supported us in prayer, lifted us up with encouraging words, or just checked in after appointments, we thank you from the bottom of our hearts. It is you who have given us the strength to fight this fight for our boy...for all of us. 

The Hawkins Family