Richie’s story has so many moving parts. He has affected so many people and if you asked all of us close to him to write this, you would get 100 different stories. I am going to give you my version. I am the little sister and I will try to be as candid as possible.

Many of you know that Richie has a TikTok account and we tend to leave certain aspects of our personal life off of social media. The purpose of that page is to help find others like Richie, and to educate. Not to stir up drama and air out our dirty laundry. But we consider you, our 8p family, just that. Family. I want to be as transparent as possible with all of you so that you have a clear picture of Richie and his life.

Before I get into the wonderful person that Richie is today, I feel that it is necessary to give you a little bit of backstory. I know that one of my other sisters could do far better with the younger Richie…and if you like I can ask one of them to write from their perspective.

Richie was born on December 27, 1976 in New Jersey. He was a very large baby boy weighing in at 10 lbs. 6 oz. He had a very low Apgar score, and my mother was told that because he was such a large baby, that was most likely the cause. Fast forward months later, when she realized he was not hitting milestones. She had three other children by this time (Dawn 12, April 10, and Jennifer 5) and knew what to look for. She took him to the doctor and told them that she feared something was wrong. He was not holding his head up, he was very floppy, etc. It was at that time that she was given a blanket diagnosis of mental retardation, and a positive pregnancy test with me as the surprise of the day! Richie and I are exactly 12 months and three days apart. We moved to Colorado when Richie was 6 weeks old.

To be honest with you, I don’t have too many memories of us as young children. My parents went through a nasty divorce when he was nine and unfortunately part of the way I protected myself was to forget. I do remember there would be occupational therapists in the home from time to time, and that my mother flew to Philadelphia to speak with specialists to try to better understand how to help him. They talked a lot about the fact that he never crawled and that he lost the patterning of the brain that was necessary for learning.

Growing up we were two peas in a pod. He followed me everywhere. He would crawl on his knees and would bite his hand in excitement. I recall how much his grunts and groans would irritate me and I would be scolded if I told him to be quiet. LOL. Good old sibling rivalry wears no special mask, even when dealing with a special brother. He did not walk until he was 7. Richie was not potty trained until he was 16. He did not speak much until later into his teens and he gave one word responses. He loves to make all sorts of noise though to let you know he is there.

My mother moved Richie, myself, and Jennifer to New Jersey shortly after the divorce. My two older sisters were out of the home by that time and beginning lives of their own. My mother moved to marry her high school sweetheart. His name is Ray. Ray was very patient and kind to Richie and he is really the only father Richie has known. My own father worked very hard to build his business in a new state, and with five children came a lot of responsibilities. I do not fault my father for the hours of work he put in to build a better life for us, but it definitely came at the price of not getting to know his own child. I do feel like he tried in his own way but times were just different back then and my parents are older parents. They do things in an old-school way and the “traditional mom stayed home/dad went to work” dynamic was strong. When our mother moved away from our father, Richie only saw him twice over the next 15 years.

When we moved to New Jersey, my sister, Jennifer decided that she wanted to go back home and live with my father. She was not happy in a new state and wanted to go back home. Shortly thereafter my mother moved us to Hawaii. When we were moved so far from family, it created a stronger bond between Richie and myself. I saw my sisters a couple of times a year and they only saw Richie if they came to visit which was incredibly rare. We lived in Hawaii for a few years, and then we moved to Florida for 15 months. Then back to Hawaii again. Then to Colorado. My mother can be a bit of a selfish person and her whims to move around made it difficult for me to adjust. Richie however always jumped in feet first no matter where we went. He always had a smile on his face, and was the favorite of all of his teachers. He was pleasant, never a behavioral issue, and was a downright pleasure. I would like to think that if we had a bit more stability, and we could’ve established a relationship somewhere with a school etc. that he may have had more opportunities to help with speech. Again, things were just so different then. Services were not what they are now, and there are so many more opportunities for therapy.

In 1996 when I graduated high school, my mother decided to return to Hawaii with Richie in tow. I had never been away from him like this, and it was difficult. Hawaii had begun to do more integration in their schools and were beginning to do away with “special ed high schools”. Richie attended the neighborhood high school and really enjoyed his time there. Integration was good for him and I think it really helped the students being exposed to someone like him. Richie was able to graduate from high school when he was 21 and I was able to attend his graduation. He was still the same old Richie that I know and love. Happy and carefree.

Fast forward a couple of years and my mother and stepfather decided to move to Utah to help care for his mother. This is where the story gets a bit frustrating. My mother decided to leave Richie in Hawaii and move him in with a host family. For those of you that don’t know, a host family is simply a family who decides to take in a client and make them part of their family. They are paid by the state to do so. This began “World War III” between my mother and us girls. We felt that she was abandoning him, and all of our hands were tied. My sisters were young and starting families of their own, and I certainly was not in a place to care for him as I was trying to go to school and get an education. We also were not in a financial position to jump on a plane and go to Hawaii and afford to stay there while visiting him. I think he was there for 18 months before I was able to go. My sisters and I pleaded to have him moved to the state of Colorado to at least live in a group home here so that we could be near him. Because of a loophole in the system we were able to get him back to Colorado fairly quickly but the catch was that he had to live in Sterling Colorado two hours away. That was the only place that they had services for him. We took what we could get at that point so that he could be near. The group home in Sterling was filled with four other lovely clients and staff that actually were quite great. Because it was a small town there was not a lot of turnover and we were able to establish relationships with his caregivers. I tried to drive up to see Richie as often as I could. Sometimes we would bring him to our home for a weekend.

I think my mother sort of felt like she had paid her dues. She told herself that Richie was better off in these homes, because if he was living with her, he would just sit on the couch all day with nothing to do. I think she told herself this to protect her decision. None of us agreed with it. This has been a source of contention for years and continues to this day. My mother lives in Utah and sees Richie a couple of times a year. She justifies that in her own way. I know she loves him but for whatever reason has decided to have this relationship with him.

Richie lived in Sterling Colorado for two years while we waited for a spot to open up in the Denver metro area. At this time I told my mother that I wanted to be put on as co-guardian, so that I could be a part of decision making. After a long wait, he was able to move to a group home in Littleton. This group home had five other clients, and turned out to not be a great fit for Richie. There was a lot of turnover, and we had a lot of issues with him not being monitored properly. Through it all Richie always remained so happy and easy-going. I have never known or met another human to be so carefree. My mom and I decided to move Richie out of this group home and place him with a host family. Interviewing and trying to find the right fit for Richie took some time.

The hard part is, there are a lot of opinions about what is best for him. It’s kind of like the majority rules at this point, and the woman that was chosen to care for him is not the person I would’ve voted for. Richie lived with her for three months, and it became apparent quickly that she was not caring for him the way that he needed to be. We started to search for another host family and stumbled upon a man named Jeramy. Jeramy was a sharpshooter in the military and decided that after being gone for many years, he wanted to be home with his family. He felt that caring for someone like Richie would help him to stay home but also be good for his children to be exposed to someone like Richie. Jeramy was the biggest blessing. Jeramy lived about 20 minutes away from me and 40 minutes away from my sisters. We would take turns giving Jeramy breaks and taking Richie on weekends etc.. His family was kind, giving, and we couldn’t have asked for more. We finally felt like we could take a sigh of relief that somebody was caring for him the way that he needed to be cared for.

Fast forward three years and we get a call that Jeramy is being investigated for neglect.

They felt that Jeramy was not caring for Richie in the manner they saw fit and my family all disagreed. We were very close with this family and would have seen it if there was neglect. There was a lot of drama between Jeramy and the company that employed him. We feel that this was their attempt at “getting rid of him”, which in turn, was not good for Richie. Our hands were tied. They removed Richie from his home, and I took him in immediately.

This was all during Covid and everything was just a bit of a disaster as you can imagine. Day programs were shut down, and even if he could attend one he didn’t understand how to wear a mask so he wasn’t allowed to. I just decided that it was best to keep him in my home so that we could all take a sigh of relief and regroup. I reached out to my sister April and asked her if she would be willing to split the time between the two of us to care for him. I knew I couldn’t do it alone and I didn’t even have the room. We have a four bedroom house and we were now bursting at the seams with six people. We decided to move a plan into place where my daughter would sleep in my room for the time that Richie was here and he would take her bedroom. We figured this was a short term solution to the problem but here we are two years in and still trying to make this work. Our hope is to finish the basement one day so that everyone can have their own space. I act as Richie’s guardian and try my best to make decisions that most benefit him. So far I think we are all kicking butt.

When Richie was able to return to day programs this year, it was the biggest blessing. Staying at home day in and day out is not what is best for him. He really loves to be with his peers and enjoys being out in the community. When Richie is here, he spends time hanging out with my family. My husband is very helpful and gives me breaks when I need it. Richie is a people watcher of sorts and doesn’t necessarily want to be in on the action, but wants to watch it. April has five kids that are grown and one still living at home. She has grand-babies that come over and play with Richie. He absolutely loves children and has so much fun when he is over there.

April and I have become a team when it comes to caring for Richie. At first I didn’t know how I was going to do this. There are so many things to juggle. But the longer we do it the easier I think it becomes. My father sees Richie more often now that he lives with us. I can see him trying to connect with Richie in little ways and always asks how he is and checks in on him. I think it has taken a long time but he is trying in his own way. My dad is 85… better late than never!

During the pandemic it was April that said, “Why don’t we do some more testing on Richie and see if there have been advancements made to know what condition he has?” I reached out to a friend that is a genetic counselor and she put me in touch with the company. They called and asked me 1 million questions about him and narrowed down what she thought would be cost-effective and give us the best answer. She sent us a DNA kit and we had to swab Richie’s cheeks and send it back. Let me tell you, that was an adventure lol. We got a call back a couple of weeks later that they had a hit on the chromosome test. He had 8P inverted duplication deletion. 8p23.3p23.1. Deletion and 8p23.1p11.21 Duplication. We cried and cried.

At the end of the day that diagnosis doesn’t mean much because it is what it is. But the fact that we knew we could finally connect with others and try to learn more was very emotional. Each and every person we have come in contact with have been the most kind and amazing families we ever could’ve asked for. It only makes me sad that we didn’t have them when he was young. Maybe my mother wouldn’t have felt so alone, and would’ve made more of an effort to be part of the community. When my sisters and I went to convention we were just so excited to see other people like him. He has such a unique look and it was like looking at a sea of little kids that reminded us of him when he was little. We have not checked to see if his corpus callosum is affected. At this point it is important to us to not do anything invasive if he doesn’t “need it” or isn’t being checked for something else and we can check for that too.

The older Richie gets the less I feel he adjusts easily to change. When it’s something familiar, he does great but when he is put in a new situation, he tends to be more timid and shy. This is something we have observed that is new over the last year or so. Richie is incredibly healthy and we are very lucky that he does not suffer from any seizures. He is on no medications, only vitamins and supplements. He has a vocabulary of about 50 words, and I would say about half of those are only ones that we can understand. We tried to get him speech therapy services recently but you know how that tends to go…. they said he didn’t qualify. His age makes it difficult to get what he needs. You have to show that he has lost function or abilities to get them back. Otherwise it is “not necessary” and won’t be covered. Richie can walk unassisted on flat ground, but if he is in an unfamiliar surrounding or needs to navigate stairs and curbs, we always hold his hand. It is very important to us that we keep mobility at the forefront, and our goal is to keep him out of a wheelchair. Not only does he not like sitting in them, but that would create a whole new set of needs. Richie does have scoliosis of the upper back and we try to take him to the chiropractor and for massage when we can. When it is nice out, you can get him to go for a walk for an hour! We move at a snail’s pace, but it is good for him.

It’s so hard to describe Richie. You just have to meet him. Everybody loves him. Everybody seeks him out. When we go to baseball games for my son, the teammates talk to him through the fence. When I have to meet with friends, they ask if Richie’s coming along and are disappointed if the answer is no. He brings a light with him everywhere he goes and is an absolute pleasure. There is no way that I could fit all of Richie’s story into one blog post. There is so much more, with so much detail that I could share, but I wanted to at least give you a snapshot of his life. We are a complete open book to all of you… Please ask questions please don’t hesitate to ask for zoom calls, etc. It’s hard to know what people want to hear, and again, it would take me a lifetime to type it out. We are here for you, just as we know you are here for us.

Thank you to our 8p family! We can’t wait to get to know you all even better.

By: Danielle Pyeatte

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.