We are Brian and Cassie  Botteri, parents of Boston. This fundraiser is meant to raise funds for a cure for Boston’s rare genetic disease PACS1. Included above is a video with moments of Boston’s life so far and a detailed video of the research being done to cure PACS1. If you have the time to watch the videos and read his story, we would greatly appreciate it. If you aren’t able to donate we still would like to raise awareness for rare genetic diseases as some take years to diagnose, or are never known about.  An example of this is this video about Quinn, another PACS1 warrior.  This video will help explain what an older child with PACS1 faces.  https://m.youtube.com/watch?fbclid=IwAR2UNA2AcLjiofKdP1aXIMAiOt4sDtL3xr2tTsZIi-CDg9shfdElBRrDNRY&v=4TLaOH3Rvpo&feature=youtu.be

From the beginning it seemed like Boston wanted us to know something wasn’t normal. There were multiple complications during the pregnancy and Boston ultimately decided to meet us 5 weeks early. When he was born the doctor immediately noticed a sacral dimple and the next few days were a blur, trying to determine if his spinal cord was normal and what it could mean long term.  As a premature baby he was only in the NICU for one day but in that time both a heart murmur and tongue tie were found.  The tongue tie was immediately corrected and notes were made to follow up on any heart issues. Immediately after we were released from the hospital, we were called and told we had to come back due to health concerns and jaundice. The next hospital trip resulted in blood tests which showed both anemia and a low white blood cell count that meant he might not be able to fight infections.  This ultimately was diagnosed as chronic neutropenia.  Boston had to get blood tests multiple times a week for the first few months of his life to monitor his counts and we were told if he had a fever over 101 he needed to go to the emergency room for antibiotics to help him fight any infection, as his own blood could not.

When Boston was one month old his pediatrician noticed signs of a hernia and ordered an ultrasound which led to finding dual inguinal hernias and an umbilical hernia.   Shortly after the diagnosis of his hernias , the pandemic started.  Everyone went on lockdown and getting the care that Boston needed became harder, scarier and more stressful.  The surgeons did not want to operate on the hernia because of COVID and it led to 3 more months of intense pain for Boston.  He would refuse to eat, he cried all the time and nothing would console him.   This put pressure on the hernias causing him noticeable pain. Due to the chance of loss of circulation if a hernia gets stuck, and his high risk of infection due to his neutropenia, we were told to take him directly to the Oakland emergency room if we could not push his hernia back in on our own. When Boston was 4 months old, the surgeons decided to proceed with surgery.  However, due to his low white blood cells we had to give him injections at home to artificially raise his white blood cells,  which delayed the surgery.  Once the surgery was finally completed Boston changed into a completely different and happy baby!

At the same time, Boston was not eating well . He develop ed an odd sound when breathing and crying.  We saw an Ear, Nose and Throat specialist who diagnosed him with tracheoamalacia , which is a rare condition that happens when the cartilage of the windpipe, or trachea, is soft, weak and floppy .  Even after repeated questioning, we were told these were all common issues in premature babies and were due to his premature birth. As we continued to press about the amount of health issues he had, his pediatrician recommended a genetic test.  We were referred to a geneticist who saw Boston in person and noticed some of his features were different than ours.  We remember him asking, “where do you think Boston gets his nose from?” At the time we thought he just had different features that would evolve into looking more like us. After taking some measurements of Boston’s features and reviewing his health record, he recommended a whole exome sequencing genetic test, one he referred to as an “ MRI of genetic testing.”   Blood draws were done on both of us parents and Boston, and we waited for results. Two days before his hernia surgery, we received the diagnosis of PACS1 Syndrome. At the time we were told only 70 individuals in the world, 40 in medical literature, were diagnosed with PACS1 . We started doing our own research and found an amazing support group of parents with children with PACS1,  a community that now has upwards of 200 individuals worldwide diagnosed with PACS1.  This number is larger than we were originally informed, yet it is still an incredibly rare disease.

Children with PACS1 syndrome will be dependent life-long on caregivers. They have intellectual disabilities, global developmental delays, epilepsy, autism, and significant language impairments. All children with PACS1 Syndrome have the same exact change in the PACS1 gene making it extremely unique and more easily curable relative to other genetic conditions.

Under anesthesia, Boston was able to have a successful brain MRI, spinal MRI and heart scan. The brain MRI showed a normal brain structure , however a previous EEG had shown abnormal brain waves.  Due to the abnormal brain waves and some odd movements Boston was making, another EEG was scheduled, this time for 24 hours. The results luckily confirmed no seizures currently, but that he still had abnormal activity.  To this day Boston has not had a seizure but we are very aware that it could happen at any time.  The heart scan results showed multiple holes in his heart with more testing due in the future to determine if they have closed.  The MRI of his spinal cord, which was done due to his sacral dimple, resulted in the diagnosis of a tethered spinal cord.  The tethered cord could cause problems for walking, additional pain, other lifelong issues and led to a surgery at ten months old to correct it.  Although the surgery corrected it for now, it is something that needs to be monitored as he ages because in some cases it can re-tether.

With his PACS1 diagnosis came the understanding that all of the obstacles, concerns, questions and pain for Boston so far may just be the beginning. We were immediately put in touch with therapists for speech, occupational and behavioral aspects. Boston has had an average of 2-3 appointments a week for his entire short life so far.  He works with 3 therapists and 13 specialists.  He has experienced developmental delays like sitting up fully on his own around 12 months and crawling around 14 months . At 20 months, he is working on walking but has yet to say his first word. Everything that comes natural to most developing children takes teaching, time, patience and determination for Boston. When he was diagnosed and we were told his only option was therapy and that he may not walk, talk, etc., we refused to accept that as the only option. Through the amazing support group , we were able to connect more with the PACS1 Foundation that has been working on a cure for PACS1. 

Since the PACS1 Syndrome Research Foundation was founded in August 2017, they have funded $800,000 in Research Grants to University of Pittsburgh, Duke, UCSD and Northwestern University. The research findings indicate that PACS1 Syndrome is caused by a toxic protein produced by the mutated PACS1 gene. The research is focused on finding therapeutic approaches to remove this toxic protein.

The foundation is making great strides in finding a way to treat the condition and hopefully decrease these symptoms and help our children to live a life where their days aren’t scheduled around their doctor appointments and therapies. Boston is an incredible boy, his smile is contagious, he is sweet, happy (now), and such a joy to all of those around him.  If we could make his life more carefree and healthy, it would mean the world to us all.

100% of your donation will be used to support research that accelerates treatments for PACS1 Syndrome.