What I wish I knew before I found out I had 22q

What I wish I knew before I found out I had 22q

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It been ages since I did a rant blog post!

I call this what I wish I knew about 22q because even after all these year efforts of research is still unknown of how this affects us who have 22q.

 There can be a bit of variability between each of the conditions. Such as 22q11.2 deletion can be a trisomy or there can be chd or no chd. You can have thyroid issues or no thyroid issues. You can have learning speech hearing heart issues or none at all. I wish I knew and understood that no two people with this disorder are affected by it in the exact same way no matter how hard I searched for answers and asked others who have it or have kids with it I always found out there are some similar characteristics but not all of the exact same symptoms and even if we had the same symptoms as someone else there are for different reasons.

I knew what Digeorge syndrome was but I did not understand velocardiofacial syndrome until a few years afterward I did not understand the basics of genetic 101 I can now probably teach a seminar class on it.

I did not know there is an entire country who wants to wipe out rare genetic disorders and completely get rid of anyone who is a big quirky odd or different with how God formed them. I did not understand why parents were shocked when I could raise my own family when I told them. I did not understand the hatred of people who have this disorder but yet claim their love for their own child they too will have a child who grows up one day to be an adult like myself.   I also did not think parents would never want their 30 year old live on their own and be functional adults in the real world I didn't know why parents were so over protective until I had my own child. I will not limit my daughter like some of the parents I know and have ran into but instead, encourage her where she needs encouragement and help her by nurturing her independence no matter how stubborn or strong willed my redhead has become at 10 years old. I am so thankful for her stubbornness because that is what got her through all those years of multiple doctors visits her leg braces and her dental work. That what pushed us past our limited views of others to help us reach our potential we ran a 5k together not many normies can say they did that. 

I understand now the fear is the unknown and the hate is not hated but it is grief it a loss of life they thought they were going to have. I get it I have my own daughter who has it. I too experience all of the awful mixed up emotional feelings that come from having this disorder but I did not allow my self to stay stuck. I educated myself and I am educating others so they know what to expect once knowing what to expect they can be hopeful that is the worst case or they can hope for the best case but either way there is hope after knowing what they are getting into.

Feeling pretty lost scared and confused is a typical day to day functional normal for us none normies who are trying to figure life out. Adjusting to routines and schedules is a challenge trying to manage just a two bedroom apartment can be a chore for someone like myself but here I am doing it basically wiping my own butt. I am shocked that others are shocked that I too can wipe my own butt and look after myself and not only look after myself but after others as well. I am a wife mom and step mom some define what I do a success

I am not impressed one bit by being someone inspiration simply because I am stand to own my own two feet and get up each day and do things that I have to do. I get some people can't I really do get that but to label that all of us with 22q can't do that is unfair and it is already setting more limits on the limits that are already in places. Screw the limits set by others is what I wish I knew!

 

I have anxiety and Adhd and ptsd but most days are good days medications are little because after all these years I have coping skills and things set in place I know that will help. such as sticky notes and how to guides I use a binder system to keep track of everything. I also have a binder for everything I really wish I knew about this binder system that I use. It would have made high school so much easier.

I wish my passing out spells I had in high school were vaggo vessel and that I just had to take this pill for and it would all go away. It does not go away with just a pill I wish it did.

It can be scary to hear your child has a genetic disorder. It can be scarier to know you also have the disorder what is even scarier is knowing you have a disorder and having a child any how because hey life happens and birth control is only 99.9 effective.

I see these worst case scenarios in support groups and such and watch others just stare and hear crickets when I write a post about the good stuff but when I write about the bad everyone comments. I wish I knew I was only a relatable human being by sharing about my stomach filar ups. I would have written a blog post and shared pictures of every time I picked and hugged the toilet bowl I wish I knew you all would cheer me on for that. I wish I knew what I needed to do to be part of a support group to be a team player rather then having to create a blog and website and from my own tribe. I wish there was a tribe for me where I could fit in but it is what it is. I wish I knew life is what it is before life got all messy by my trying to fix it and help others.

I wish I knew how to handle the stress from the nonstop specialist and pt and ot appointments we had to attend and that I had to attend while I was pregnant and after. If I did I would not have ended up in a 72 hour phyc hold with an over dose of Ambien just by mistakenly trying to simply sleep because my brain wouldn't shut down. I wish I knew how to write about that moment to help others to prevent others from going down that path that I did. I wish I knew about 22q.

I wish I knew my brother who passed away from having 22q at 6 years old. I wish I knew what I outlived him. I wish I knew why God takes the little child and not me. I wish I didn't have a second hospital trip for a medication over dose because I didn't know how to process grief I didn't know how to deal with my father who disowned me who has 22q as well. I wish I didn't learn these coping skills from my step mother who enjoys attention seeking behavior choices and takes tynole by the bottles when life gets too shitty for her. I wish I understood mental illness when I was a teen.

I wish I didn't have to have a complete mental break down after I had my daughter when she was 1 and another when she was 2. I wish I knew I had ptsd do to the major abuse and neglect from my parents. I really wish I didn't have to hold all of this in until I was 25 years old. I am 34 years old and I really have only enjoyed living life since that last trip to the mental hospital. I am recovered by the grace of God I understand why God allows bad stuff to happen to good people I didn't know then I wish I knew that too why God allowed 22q. 

I know now I know from the bible study's from the medication from the teachings from all the years of hard work in therapy. I wish I could pass all of this knowledge on to others so hey don't have to feel so crappy about having 22q or living with someone who has 22q but what I know is people are going to do think act and feel how they want and there is nothing I can do to change that. I also wish I knew I would make and lose friends who have 222q based of what others perceived about me. I wish I knew all of this about 22q

I wish I didn't see this from a parents perspective and also somebody that suffers from it. I wish I knew all of this about 22q.

I wish I knew that insurance did not cover anything related to my daughters health condition and that having children's special health was useless because Medicaid will cover generics of what she needs.  I wish ssi knew what 22q digeorge syndrome was and that it not going to get healed because she can speak. I wish I didn't have to appeal ssi or have to deal with ssi every time we tuned around but only one of us can work because I have no ablity to stay at a full tme job with the ups and downs of my own illness. I wish I knew there was more support.

I wish I knew all of this about 22q.

What do you wish you knew about 22q ?

 

 

 

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Rare Champion of hope nominee Amanda Ripsam for 22q advocacy

I am honored to be a nominee for the rare champions of hope

My husband Adam and I

My husband Adam and I

I am honored to be a nominee for the rare champions of hope. Hundreds of individuals and organizations worldwide were nominated by their peers for the 2017 RARE Champion of Hope awards to honor their notable efforts in rare disease advocacy, science, collaborative sciences, and medical care and treatment. Please see the full list of nominees and a map demonstrating the various locations of those nominated below.  The purpose of the Tribute to Champions of Hope is to recognize those who are uniquely attacking the challenges they face in the fight against rare disease; those who are thinking outside of the box and working tirelessly, not focusing on what was, but setting their sites on what can/will be. 

I have always been focused on the what I can do vers what I can't do as an adult and mom who has 22q and raising my own child with 22q11.2 deletion syndrome. I also have a father and three siblings one of my siblings a half brother passed away at the age of 6.  In total there are 6 of us with 22q in our family. I bring all kinds of perspectives and that's where my passion lies in honor of my brother quietly of course and in providing hope for my daughter. I share my story here on my website and have blogged since 2014 since I started blogging there have been so many other 22q people who have also wanted to blog and some people even want to do all that Bella and I can do. At first, it was not easy doing the research talking to doctors hunting down specialist but I did it and now my daughter is 10 and I'm trained and ready to speak out and up for this disorder that is unheard of so often way too often by er doctors nurses and teachers.  The people who interact with my daughter all are aware of 22q and that made me have the desire to spread awareness the old fashion grass roots way of word of mouth to everyone and anyone I can.  My passion is why I am honored to be one of your nominees to share my story if i can not attend I would love if everyone who hears about me and my story to subscribe to my blog so I know how many are out there who want to hear my story.

2016 Tribute to Champions of Hope Recap

The 5th Annual Tribute to Champions of Hope was host to 670 attendees and 27 honorees. The night will be remembered for its courageous honorees, touching acceptance speeches, and amazing performances. 

I am in the black top Bella is in the one in the red 22q hat and Adam hubby is in yellow. We are standing with friends for a picture from last years 22q at the zoo in Grand Rapids Michigan we had a small but mighty group spreading awareness

I am in the black top Bella is in the one in the red 22q hat and Adam hubby is in yellow. We are standing with friends for a picture from last years 22q at the zoo in Grand Rapids Michigan we had a small but mighty group spreading awareness

The link below shares the list of others who have also been nominated.  This is a huge honor and I thank everyone who voted to get me here.

I also thank every single blog subscriber and everyone who has been supportive of our journey.

Love Amanda Ripsam and Family

https://globalgenes.org/2017nominees/

 

A Family copes with 22Q11.2 deletion syndrome written By Amanda Ripsam

A Family Copes with 22Q

This story is for the readers who have asked about my journey the hard the good all of it with 22q. I wrote this when I was 30 and I have to update a story on how I recovered from it but this is the first step towards my journey and healing this is what made me start my blog and write from my personal first hand experiences to help others.

Warning this will cause tears and maybe even painful memories for your self this story should not be read by children. 

Please ask before sharing and posting any of my work on your site thanks for respecting the hard work I have put into this. Feel free to comment and subscribe if you liked the story at the end.

My name is Amanda Ripsam, I was born and raised in Toronto, Ontario, Canada. I now live in Michigan. I have 22q11.2 Deletion Syndrome, sometimes called DiGeorge Syndrome. Something that is unique about my family is that there are five of us who have DiGeorge: My father, my two half-brothers, my half-sister, and I. Unfortunately, one of my half-brothers passed away at the age of six. He died of a brain hemorrhage/seizure in his sleep.

I have a beautiful young daughter who is five years old. Her name is Isabella. She has DiGeorge, too.

This is my story. My earliest memory is from when I was in kindergarten. I lived with my mother in an apartment in Toronto, Ontario, Canada. My parents were married after I was born, but divorced a year later. I have no memories of my father being in my life until I was a teenager. My mother was raising me on her own until she met Al. We moved to Pickering, Ontario to live with Al in a bungalow style house in the middle of a rural area. There was a block of houses and then nothing for miles and miles around. I started first grade in a new school in a new house with a new man in my mother’s life and mine. No one knew I had DiGeorge while I was growing up.

The house was a brick house with a huge backyard and a huge front yard with the neighbor’s apple tree hanging over the front yard fence. The house forever haunts my dreams, during the day and night. I have flashbacks even while writing this story. I am thirty now. I know I am safe and happy, yet the feeling of remembering my abusive childhood is one of overpowering fear.

Al was a tall man who had adult children from his first marriage. I stayed in the old bedroom of one of his son’s. It was train-themed. He never made it my room with my style and likes. In fact, my room became a dungeon. I was locked in my room. The doorknob on the outside was locked and that was the only way in and out of the bedroom. If I had to go to the bathroom, I had to pee in a bucket. While Al was home, the bedroom is where I had to be. I was allowed to go to school only dressed in boy clothes, my body unwashed. I was only allowed to shower every three days, because that was one of Al’s many rules. My escape was school. I longed for weekend visits with my grandma, where I was allowed to be a normal child. I would scream and cry, “Please don’t make me go back there!”, but Grandma didn’t know the abuse that was going on.

I didn’t have the ability to communicate effectively with adults because I wasn’t allowed to speak around Al without fear of being slapped if I said something he didn’t like. Al used anything he could to slap me too: belts, TV remotes, shoes. He even had me stand in the corners on my knees for hours until he got home. Till this day I wonder “What did I do wrong?”” What made him do what he did?” I cannot even confront him, because he died of a heart attack when I was twelve.

This type of abuse went on for many years. I do not remember meals other than the lunch box I was given for school. Al would make the lunches so teachers never got on to what was going on. He always made sure to leave bruises under my clothes, meaning on my arm, but never my face.

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I had rope marks on my arms from being tied up hog style. These are the memories which today, as an adult, cause me to wake up with night terrors and, night sweats, crying and sobbing or sometimes fighting Al off in my sleep.

One day my mother snapped. I was in third grade. I was getting ready for bed and my mother was brushing my teeth. My mother wanted me to lift my tongue and I just couldn’t. So my mother slapped me for not paying attention and for not listening to her. I still have the scar across my right cheek. The slap left a huge noticeable bruise; I went to school and had to tell a lie to my teacher that I hadn’t listened to my mother when it was time to put my coloring crayons away. My teacher called Children’s Aid (Social Services). Little does she know the impact. She probably saved my life.

The police came to the school and picked me up. There was a social worker in the back seat telling me, “It’s ok. You’re safe now.” She said, “Everything is going to be all right.” That social worker started the investigation and asked me tons of questions. I denied any type of abuse at the time because I was too scared of what would happen if Al found out and I had to go back home. I told a lawyer who was appointed to represent me, that my three wishes were for everyone to have peace, for the stars to stay in the sky, and that I wanted to live with my grandma.

I was placed in a foster home until my grandma was able to get court-ordered custody of me. I believe I was at the foster home for a year. I still attended the same school, wondering if Al would ever show up. He did one day, saw me behind a fence playing with some friends, and said, “Can I have a hug?” I told him “NO!” and ran to my teacher and he took off.

My foster home was full of kids who were there for different kinds of reasons. I shared my room with another foster kid. The family was a very nice, warm, loving Jamaican family. I only remember their first names were Joy and Lambert. They gave me my first taste of Jamaican ox tail with beans and rice. That became my new favorite dish.

I learned how rules were really made. There was a list of rules in our bedrooms for us to remember– cleaning up after ourselves, as well as keeping the bedrooms clean. I learned how to do house work the right way without being yelled at if I washed a dish the wrong way. I had Christmas there that year. I got my first pair of ice skates from my foster father, the only man who showed he cared about me other than my grandpa.

My grandma finally got custody of me when my mother gave up her rights. When I saw my grandma for the first time after a year, I had forgotten what she looked like, but I knew it was her by her perfume and her voice. I started at a new school just after Christmas in fourth grade. I started to learn how to read and write. I also started to be taken to the doctor’s, I even had my first pair of glasses, and they were sparkly pink.

At this point in my life, my father stepped in. He had fixed his act and was no longer a drunk. He was still a deadbeat, but not a drunk. My dad asked me if I wanted to go on weekend visits to his place now that I was living with my grandma. I went a few times, met my stepmother, and she was very nice.

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She had another kid who was younger than me. He was my stepbrother, now. My stepmother and my dad had their first baby together, and I now have two half bothers.

The new baby was fine until he turned one. Then he had a seizure after eating turkey for Christmas dinner. My dad and stepmother rushed him to the hospital, and the doctors there did a ton of tests, including a FISH genetic test. The test results came back and the doctors told my stepmom and dad that the baby had DiGeorge Syndrome and that it was so rare the doctors couldn’t find any research on it, other than from 1984, the year after I was born.

They started to treat my baby brother for hypocalcaemia and low iron; He needed meds to make sure he didn’t seize up. Even so, he still had seizures from time to time. My stepmother and dad decided to have another child. Knowing my brother had DiGeorge they got my sister tested at birth. She was also put on treatment for hypocalcaemia. Every day both kids took their meds, but something was wrong with them growing up. They had trouble learning. They had trouble listening. They had trouble potty training.

My dad and stepmom had more doctor visits and testing done. They decided to have themselves tested as well. My stepmother’s FISH test came back normal, but turned out that my father has DiGeorge.

My father never really looked into how to get treatment for himself or how DiGeorge affected him. He was fine and didn’t show any symptoms other than the facial features and the hearing loss. At this time I was bouncing back-and-forth between living with them or with my grandma. I decided at fourteen to give moving in with my dad and step-mom a try. I turned into the maid, the cook, and everything else my dad and stepmom were too lazy to do. The only thing my dad did was get a restraining order on my mother after she and her mother visited me at school one time.

I moved back in with my grandma around age fifteen, and I went to a school I wanted to go to. I was tested to be in general or advanced classes, so in junior high I took general classes, but I was bored with those. In high school, I took mostly advanced classes except for math. I failed math class every year and only passed it in summer school.

Summer school is where I met my first love. I went on my first date and had my first kiss. I was once again living at my father’s. I was sixteen now. The next day my stepmother over-dosed on Tylenol. I had to call 911 to get an ambulance to take her to the hospital so we could get her stomach pumped. She was dealing with depression because of the two kids having DiGeorge and my father having DiGeorge and not being able to get treatment of any kind because doctors didn’t know what to do.

My stepmother was in and out of hospitals. To escape, I spent more and more time with my high school boyfriend. I started to focus more on my friends than on being a brainer at school. I started to skip class just so I could get away from the world. I decided to move back in with my grandmother for good because my grandpa had cancer. Moving back in with my grandma was the best choice I could have made. I was loved. I was cared for. I was protected from the outside world. I started a babysitting job. I also got my first real job at McDonald’s. Then I moved on to a job at a photo lab in a grocery store.

I was going to school every other day as well as doing my co-op in a hair salon every other day to earn school credit hours. I learned all the ropes—how to shampoo and blow dry client’s hair, how to

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sweep the floors, how to wash the windows. I learned how to answer the phones and how to dye client’s hair, I learned how to do nails and make-up, and I learned how to run the tanning bed. I learned the ins and outs of what was needed to run a salon.

I learned how to do it all. I even learned how to do a basic trimming of hair. I got to play with a mannequin and did up-dos and perm rods and practiced highlighting with conditioner on the mannequin’s hair. That was my favorite part.

I learned how to do the social interaction that earned more tips from customers. I liked that too. I learned how to sell hair products and do bookkeeping. Then I started to look for a job, because my co-op time was almost up. I was hired at a salon, where I was an assistant. I still kept my photo lab job. This was all while I was in high school, the two jobs plus babysitting. I was doing well in high school until I got to my twelfth grade. I failed one English class and didn’t get the credit because I was too busy having fun with my boyfriend. The biggest regret I have in my life is not finishing my high school diploma with just one credit short. I didn’t go back because I thought I was doing well with my jobs, and I needed the money to start living on my own.

My boyfriend and I started to drift farther and farther apart. I started to chat with people online and found a guy who is now my husband. We have been together since February 23, 2005.

When I was twenty-two, I went back to Toronto and got tested for DiGeorge after my stepmother pleaded with me to get tested. I tested positive. Around the same time I was tested my step mom gave birth to my baby brother who passed away at age six. He too tested positive for DiGeorge Syndrome

I was twenty-four when I got married and got pregnant. I did have a complicated high-risk pregnancy. I always was sick during my pregnancy. I don’t think there was a day I didn’t throw up. I started to pass out, and they put me on bed rest. I refused an amino test as I knew I could have my kid and get a FISH test. I wasn’t planning on aborting my child, healthy or unhealthy.

I had developed hypocalcaemia as my daughter was pulling the calcium from me. No matter how much calcium supplements I was given to take, or milk to drink, it wasn’t enough. My levels stayed at three during my pregnancy; my iron levels were also around six. I could not afford the medications to treat it, so bed rest it was. I had a lot of amniotic fluid. I started out being 135 pounds and my last weigh-in for pregnancy was 198 pounds. I’m only five foot two inches tall. You can imagine the leg pains and the back pains I had. I gave birth to a beautiful seven pound, five ounce baby girl, Isabella. She started to turn blue and had tremors in the hospital. I urged the doctors to do a FISH test. They wanted to wait a week. I was against the waiting; I said it needs to be done now.

They tested her and, sure enough, she has 22q deletion, too. She has a history of lower left blood pumping into her left chamber of her heart, but the heart issue resolved itself. She has had seizure like activities and a history of hypocalcaemia. We had feeding issues and ended up having to thicken formula with rice to the consistency of honey. We did a swallow study which revealed she had reflux, and I could not breast-feed her because she would puke it up through her nose. I did pump my milk into her formula to mix it with the formula and the rice to add more nutrients.

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Isabella has had speech delays and didn’t start talking until she got her first set of ear tubes, and I thought, oh no history is repeating itself. She sounds hyper-nasal. She is currently involved in pre-school programs and is having some learning difficulties and some emotional outbursts. Speech pathology services are provided two times per week. I am a strong believer in practice makes perfect, so Isabella and I practice on her speech every day. Isabella has occasionally had blue lips and restless sleep patterns despite best efforts at a sleep routine and melatonin.

Isabella’s hearing is within functional limits; she has been seen by a local doctor since she was two years old when they placed her first set of tubes in her ears.

Isabella presents with Velocardiofacial Syndrome. Her symptoms are face, including small hooded eyes and small ears. She eats regular food and does not have nasal regurgitation. She’s growing normally although she has some learning difficulties.

Bella has low muscle tone in her palate in her upper mouth so we have to go to a palate specialist. We also have her in speech therapy. Her articulation has improved and she also has had tubes in her ears. The doctor just put her on medicine for her allergies and that’s helped with the runny noses and the dark circles under her eyes are starting to fade.

She will be happy one minute and in a tantrum that’s uncontrollable the next due to emotional and physical ADHD. We have just started her on meds.

Testing of the newborn is not only important for the newborns but testing is also urged by me because of my story. Overall, you wouldn’t be able to tell there was anything wrong with Bella or myself in physical appearance. We also don’t sound like there is anything wrong with us either. I was one of the lucky ones who knew I had 22q deletion before I had my daughter Isabella. My father has 22q deletion. Three half siblings of mine have it. We have to get rid of the fear the unknown brings of a new diagnoses and start treatment as early as possible. We all want to be around for our kid’s graduations and other important life events. Why wouldn’t we want to be tested to get treated for symptoms that have or have not been around? Each and every one of us with 22q is very different.

Copyright 2014 Amanda##