Why does Bella needs all of her appointments every single Tuesday?

Update: it has been ages since I did a life update

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Tuesday are our days we take Bella to physical therapy and psychology.  We sometimes also see other specialist on the same day. Last month we ordered Bella's shoe inserts they are called chipmunks they are a plastic insert we put into her shoes and she wears them all the time. This is part of the treatment for Bella's leg pains that come from having a mild form of Cerebral Palsy. cp for short. Bella has digeorge 22q11.2 deletion syndrome and this is just one of the many ways we keep her as active and healthy as she appears.  Spring break we will pick up Bell's shoe inserts and she is excited about them for now. They stay in her shoes like dr scholls inserts. Her shoes have high arch and are new balance with insert put in. Bella loves running and is excited girls on the run has started up again. 22 laps around the gym every Monday and Wednesday. 

we had Bella's occupational therapy assessment and we have great news.... Bella does not need occupational therapy.  The other stuff will come once we are better able to handle her adhd both emotional and physical adhd and panic attacks a lot better. Bella does get tired more and she is on a mussel relaxer for the leg spasms at night.  We are to continue with physical therapy as that seems to be helping Bella so much with her leg pains from the mild cerebral palsy spasms.

For the psychology part of her appointments seems our girl is having panic attacks the joys of entering puberty and works herself up into a temp of 99.9. right down to tummy feeling sick and while everything her mamma has syncope.

  Seems on Fridays the school calls us and Bella has migraines and no one can tell what is causing them. Bella says the loud kids and sounds in her class but they are no different any other time of the week. I think it is something else all together. We will get down to it and figure it out even if I have to order a smiley face button spy cam to get to whats distressing her. 

Bella needs more self esteem building because she has been told how much she can not achieve at school vs what she can achieve at school. There is also a tight group of girls that Bella is not apart of. She is friends with two other kids who refuse to take part in the clicks which I am so proud of her for standing up for herself. There was a few things that come up where she was picked on by some other kids who claim they were just playing a little game with her but that worked it self out. Bella also does not like how loud the bus becomes. Kids in her classroom seem to be a little to loud for her to handle. We also have some issues where we have taken her to busy restaurant or concerts and the loud sounds bother her there too.

 

Other then the typical day to day stuff of routines and normal structure there has not been much to blog about in terms of updating friends. I did get a new couch and a dslr cannon camera that I am loving. I will have a gallery of my photos soon for all of you to check out

Thank you to everyone who has asked how Bella has been doing and wondering where my updates have gone. Over time Bella updates have been less and less and we are moving forward in the right directions in all areas of Bella's life creating that balance I have longed for since she was little.

oh and we are also getting a dog :) I will share photos of our new friend once we get him home. he is a rescue dog from the animal shelter. I can not wait to share him with all of you and introduce you to our new pet. The godlfish are still alive and going strong. I never realized how long gold fish live when you actually take care of them. The goldfish have been with us for the past 3 years.

 

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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How to self care as a special needs caregiver

 As a caregiver, we can often overlook the burn out factor.
 I became burnt out friends! That is why there have been very few blog posts. I shared a bit about being burnt out before and last week I wrote a post about attending a conference that helped speakers and writers which I found a new source of inspiration.

This blog is about balance and I have not shared about how I balance and manage to live with 22q11.2 deletion syndrome. It requires a lot of time management in all areas of life, physical, emotional and spiritual. I went to the speaker's conference as I mentioned above and I came back home to the reality of trying to keep up with my two bedroom apartment and kids sometimes I only have free time to sit with my husband and fall a sleep on the couch.

I have a bit on my own plate to manage my own health issues I have gastroparesis and it is gastroparesis awareness month so I felt I needed to write about the struggles I have. 

I have adhd and ptsd I have not talked about my struggles with these things and how I am managing those symptoms or even managing. It is because I am busy managing these issues all at once and on hyper alert and on top of most of it. I say most of it the one issue I had with writing my blog posts lately is because of some of the sweet honest feedback and comments friends have given to me after I was on a few podcast I been doing a few different podcast shows because it is easier for the nerve damage for me to speak than it is to type out an entire blog post. I can transcribe podcast post later after my nerve damage heals but many of you have asked where I have been. What has Bella and our family been up to this summer and where are your rambling updates filled with tired typo. That is because I am stepping up my blog and I am starting to work on book writing perhaps in the future you will see pdf files for sale on my website for right now I sit and type behind my computer screen when I get the change to breath or when I get the chance to get away and type it is almost never this summer has gone by so fast and I have been living in the moments and enjoying each day as if it was my last. Life truly is short. I lost my brother when he was 6 years old and he had 22q the fact that Bella and I both have 22q and are doing as well as we are is a huge blessing and I will not take that for granted. Now there are some people who are envious of how well we are doing or think I have it all and I am accomplished I am not accomplished at all to be honest I’m just a simple mom trying to find her quiet place manage the kids and husband and my own struggles with my health issues as well as Bellas health issues. I worked my butt off when Bella was young I cut off a lot of unhealthy social stress from online support groups where some only wanted to bash each other and compete over who knows the most about 22q I’m not about to play that game to say I know more or less than any other person out there. I know how 22q affects me as no two people with this disorder are alike. That includes my father, half-sister, half-brother and the half-brother who passed away we are all dealing with the 22q11.2 deletion in our own ways none of us hear voices in our heads and none of us have thyroid issues.  As they are common on the list of issues that could go wrong like heart issues we do not have any of these major factors to deal with. Other than mild heart murmurs hypercalcemia my gasteroparies and bellas mild cerebral palsy both mine and Bella’s heart are doing okay.

I am not going to justify and list all of the issues we have or don’t have but the one common issue we face is hypercalcemia including Bella. Bella and my levels of all three calcium levels have stabilized our iron levels were low to all of us one that was balance things got easier. Sure we deal with things like Adhd and I struggle with time management. Honestly every mom I mentor with a 22q child or not struggles with how to best manage their time it not like there is a crash course in time management 101. There might be I might make a book about it but some other Billy bob out there might take my idea and make it their own before I get around to pulling it off.

I received all of your encouraging words and emails, as I reply to each one slowly I am coming up with blog posts ideas. I love the one question I get from all the parents I mentor is how do I do it all. I simply don’t if it is something that God brings me to he will get me through it. My faith is my strength and that might not work for some of you but there has to be something higher power other than myself I sure couldn’t do this all on my own according to some people they are shocked I can tie my own shoes let alone speak up and out and advocate as well as I do.


 I am now almost all gluten free elimination diets sucks by the way.
 I find I have more issues with milk vs gluten and lactose-free seems to help me with fewer tummy pains. Still eating soft mushy foods but allowing myself a cheat day here and there. I also enjoy going out now I enjoy friends and time with them and I embrace life. I even did a 5k race this past May with Bella and I am training to do another 5k.

I am slowly healing from gastroparesis it will never go away and could get worst before I get better.
 The flair ups and they have been less and less as I learn new ways to eat and balance life. Stress is a huge trigger. I once had a panic attack so bad that my resting heart rate was at 120. I started medication for that simply because I need to find time to reset and balance my physical and emotional as the two are so inter connected. I didn’t realize that having a panic attack could affect your heart as well. I mean I figured I would have to be 50 or 60 before that kind of stuff affected me.

I am 34 and I have to slow down and eliminate the negative social pressure of the crap that people want to fling online even if it something as simple as a good old political debate on Facebook. I avoid it all. I do this because I need to keep myself healthy distant myself from love one's friends or family members I have no issues walking away from if it becomes stressful for me it not a reflection on who they are as a person it just a reflection on my own personal boundaries what I will and will not tolerate.  As I adjust to this new me my family is also and we talk it all out in the open at family meetings. We have routine charts and rules listed on the wall with natural consequences because sometimes it all to much to keep in my head and in the heat of the moment we can forget about coping skills. I even have a list of things to do when angry or bored on the wall by our routine and chore charts. My apartment is decorated with family pictures as well everyone has a role in the family and all have value and worth in my home.
 I even started seeing a new dr locally for myself vs traveling further out. Sometimes just a few small changes add up over time and looking back a year ago I am not who I was and I see huge growth like I mention in that conference post I grew as a person in two years in my speaking journey but I also grew in two years over my own personal journey and finding balance. I even had a fun girls night out last night while Adam watched the kids and my friends' kids. Adam a trooper. I give props to all of the single parents who are out there dealing with this syndrome on your own with your children who have 22q I don’t know how you all do it.  I only know what works for myself.
 I am feeling much better and now I am working on sleep and routines.
 Sleep has always been a struggle as many of you 22q mommas can relate to.
 When Bella was first born and going through diagnosed stage I didn’t get any more than maybe 2 hours of sleep a night.


 So doing managed care for myself and she became too much and I had let my health slide.
 Now 10 years later I am finally back on track I have been on track before but this is a new back on track for me as I am doing everything holistically and naturally. Educate yourself is the key to hope. Question everything and avoid online group drama that stuff and pull you in and suck you dry. The competitive I know more than you are strong in groups and they tend not to be about supporting sad to say not all of these groups are bad and most have good intention but there are 22q haters out there and haters will hate and that’s okay. I’m not going to go out of my way to change anyone else’s mind. I’m just simply sharing what works for me. I ignore the stigma and if I don’t let it be there for me my daughter isn’t going to pick up on it from others either and if they aim it towards her then they are not worth the effort or energy for us to focus no one can say we are normal or close to normal as no one sees all that I struggle and deal with or what Bella struggles and deal with. Why would I want to be remind of the sad angry moments when I can share the positive side and the down low sides but I have ups and downs of this journey and just when you think you have it handled bam something else new comes up on the diagnose journey and we have to learn new ways of management. This disorder is a managed disorder there is no cure and we are all fighting our own journey why make it all the time soap drama when we can go out there and make a beautiful world and help encourage one another.

Encouraging others and mentoring others is why I started my blog to avoid the drama and focus on finding others who are going through the same things.  Who are not wanting to be Debbie downers but want to figure out healthy ways for positive change from a negative stressful often times emotionally unstable process of healing and living with 22q211.2 deletion

I think I am only in three groups now. I was recently asked to help monitor one and I am honored to do so as the few groups I am in are really on the ball and yes allow venting but not whining there is a difference.
 The blog has been around for 4 years and going strong at over 4,000 subscribers even with the changes I have had to make with web hosting. Do you remember me considering putting together a website vs blog this is that website I told you all about!

I am also working on a YouTube channel in the future as that’s how media trends seem to go.   Remember it’s okay for self-care so you can be the best you for your kids and family. I am so glad I was tested and treated for 22q issues. Some others hate the fact they were tested because there is no one who knows how to treat because most doctors don’t have a clue what it is still even after all these awareness efforts that are why I share outside of the 22q community an old fashion grass roots system of just sharing about our journey and if it brings awareness that is a nice added bonus. So distance yourself from the negative people who want to hate on you or bring you down and focus on the positive friends you do have and there will be room to make for new connections that will be of support both ways it a give and take that is how you know it is a healthy kind of support system.
 That is my tip for the week.
 What are some of your favorite self-care tips?

Until next time take care and have some fun when you can

Love

Amanda Ripsam

 

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##