Beginners guide to 22q-An awareness post by Amanda Ripsam

My child has 22q11.2 deletion syndrome. I am not one of those moms who did not know what to expect when my daughter was born. I already knew I had 22q11.2 deletion syndrome because when I was younger my half paternal sibling had a seizure one year after eating turkey at Christmas one time and they had to run a ton of test to what caused the seizure it was low calcim storage levels in the blood and that lead to a genetic test called a fish test. After his fish test result came back positive we thought it was only him who had 22q. Next came my half paternal sister she too had a seizure when she was small again the doctors tested her for cause of seizures and then after knowing that my half brother has 22q they tested my sister as well. Next on the testing list was my father they tested him because of the research that it is 50/50 chance of it being either passed on or a random deletion.

The test results came back for my father and his test was positive for 22q11.2 deletion as well back then they labeled it digeorge syndrome located on the 22q11.2 deletion. Next up for testing was me at first I said there is no need to test me I have a different mom and it only 50/50 and I only had seizures when I was much younger like under a year old I did not have any other symptoms and was the typical teenager...

At 21 I met my husband and my step mom pleaded with me to get tested so I did because what if I had a child I would want to know if I had it too and if my child would have it also. I tested positive for digeorge syndrome 22q11.2 deletion syndrome at 21 years old just before my 22 birthday how is that for irony.  I took to online groups and boards to learn how it effected my siblings and father and make some friends so I could be supportive towards them. Another brother was born at the time I was tested positive and he too had 22q11.2 deletion syndrome. He was happy and healthy despite low calcium levels but passed away when he was 6 years old. My daughter was born before my brother passed away and I have been living in Michigan this entire time I met my husband so then when I was 24

After Bella was born she turned blue and started to have seizures. I had to get a rushed fish test my daughters doctor did not fully understand all of the risk and complications and she had to call infection diseases and all kinds of people and specialist to help us.

I am forever grateful we were put on the right path. There are so many family's, adopted parents, foster parents and caregivers who have a child in their mist or adult and do not even know that that person or them have 22q. 

I was lucky to have Bella born in Michigan I had the test done and results came back within 3 days some people wait much longer or do not even get to be approved to have the test we had to stay longer in the hospital Bella spent time in the Nicu unit and I had to have a bit longer recovery time while we had to find ways to get Bella to be able to eat since I couldn't breast feed Bella had soft palate where she couldn't' latch it was suppose to be the happy moment in my life but it was filled with scary moments and some of which I blocked out of my memory I mean the fainting part I didn't realize until a few years ago how close I was to not making a full recovery.

My body has not fully bounced back and I struggle now with gasteroparises and back problems.  Any how that is how we started our journey to 22q. That's the beginners guide to 22q.

After 10 years I have not only lived with 22q with the mild symptoms and how it effects me but raising my child who has 22q but her major issues is with cerebral palsy and my major issues is with gasteroparies. There you have it the beginners guide to 22q how to get tested, what test you need to take and the next step is finding a doctor who understands and knows how to treat the low calcium levels and blue baby symptoms if you can find a doctor who is caring and listens like we had been lucky enough to have had then that is the trick to living with 22q. Knowledge is key and hope! Doctors learning about this is the key to all of this.

22q can cause heart defects my daughter had extra blood pumping in her lower left chamber but it resolved after she was born she was discharged from the heart doctor with just a mild heart murmur.  Poor immune system but we lucked out and our immune is strong it is only our body internal core temp that struggles to regulate when we are sick but we are fine other then that we can have live vaccines we have been tested to make sure we could. palate anomalies between the low calcium and the low iron Bella and I both have which is treatable with medications we are doing well. Low levels of calcium in the blood storage level in the blood total calcium can read normal but the other calcium can be low and that treatable with calcitrio a life line for our family.

When we got the diagosnes of 22q is when we met with a ton of different doctors that is why I want to share this post while meeting with a lot of different doctors specialist even heart doctors some did not know what 22q was or what digeorge syndrome was it was shocking and frustrating trying to explain in laymens terms to a doctor in doctor terms. Early diagnoses and effective treatment of each symptom that pops up is the key to having a better quality of life. If neglected or ignored out comes can be deadly. Early interventions is the key to why Bella and I are thriving as much as we are.  There are some cases where there is no cure for the symptoms that show up like in my brothers case who passed away but there is hope if more doctors become aware they can share this info with the people who come to them for help either as children teens or adults.

I challenge you to share this post with 22 doctors not just doctors who are in the field of 22q treatments spread this post out side of the 22q community the old fashion grass roots word of mouth with out any fluffy fundraising events but just simply say hey you do you know what 22q is and wait for their reply and ask them if they know what 22q is and if they know how to treat a child or adult who walks into their office. That's the biggest hurdle is to get doctors to know what 22q11.2 deletion is and digeorge syndrome is called and all of the very different veriations of it that can happen based on where the location of the deletion is.

My site has a tab called what is 22q I encourage you to share it with 22 doctors. What are you waiting for share it now :)

 

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Introduction video to our Youtube Channel

Introduction video for our Youtube channel. 

I did this video in the first part of the summer there have been a few changes since but I hope you enjoy this vblog. If you do like, comment and subscribe.

Update from this video is that Bella does not need Vpi surgery we are going to do a different treatment plan altogether.  Stay tune for more videos.

 

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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Math concerns and 22q11.2 deletion syndrome Q and A

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I had a question in a Facebook group that I was tagged in to help. The question was from a frantic mom who asked my child is 12 years old and has 22q but does not understand the numbers of months or much else about math.

How best can I help my child get to an understanding of these concepts? 

First of all, I want to say there is never any judgment from me no matter the question.

Even though concepts of months and the numbers of months is something a 1st grader learns when they start school chances are there is more to this person's question with out giving a full history of child's condition and how 22q affects this child individually the background general health conditions could have been in the way or the parent is just simply overwhelmed and not aware of choices or resources that are out there. 

  Children with 22q are often judged because they are behind developmentally not all 22q children are behind like this one reader child is by the way I was not. My daughter is only behind by a year which we found out by using a neuro evaluations and that is what I am going to suggest to answer is find a neurophysiological doctor who can do a full assessment of the child's abilities.  

My first suggestion gets an over view and an assessment of what is all going on not only with the child but also in the home environment and other factors that could be playing a role here in.

What is a neuro eval while they do an entire day of testing, in fact, Bella just went through her second one. Bellas first eval was when she was 5.  At 5 years old we had a treatment plan in place we knew Bella has physical and emotional ADHD. It was hard to tell what was typical 5-year-old behavior choices and what was something to be concern about it is easy to be missed if you do not know what you are looking for. 

I knew what to look for because I knew I had this disorder and I knew from my personal first-hand experience from watching my siblings with 22q growing up struggling that chances are my daughter might have a lower Iq level. I am glad to say after testing we found out that Bella Iq is in the low average range not to be confused with below average. Low average means that what she learns takes a bit of time so kids in her 4th-grade class who don't have 22q or other issues will pick up and understand 4th-grade concepts at the age and time line that is typical. In Bellas case she will pick up on what they learn the beginning of the year by the end of the year she will meet these goals and that is the major reason we have an Iep in place to meet Bella where she is at.

The second time around with testing we discovered that her Iq goes up and down depending on the time of day. Bella was asked what valleys were and Bella looked at the lady who was testing her funny and a few hours later in the after noon the doctor lady asked Bella the exact same question and Bella explained in very visual detail which prompted the doctor to want to do more testing. It was a long day.

  The trick is not to push and expecting Bella to meet goals when she should be but let her meet them on her own terms with guidance and support love and understanding she may feel is too much of a reach if you push to hard and dig in which I learn the hard way. Or if you let her lead and guide you and you meet the child where they are at vers where you want them to be at it all gets easier with time. 

With keeping this reader in mind what we would do is get a calendar from dollar tree or where ever and label each of the months with a number and over the year you say to the child Jan is the 1 month of a 12 month calendar year. You take each month and then count Jan 1 new years feb 2 which is my birthday march 3 is spring april 4 which is the best month ever that's when Bella was born as you can see I am doing an association with each so they remember April is the 4th month in which Bella was born.

That is how I did it. I would never expect the school to do all of the work either. I am always helping Bella with home work and I go over it and because Bella is a very visual learner I break math questions that are word problems into visual stories and modify it.

show Bella the process of how I do it and she is starting to understand and grasp word math problems which are something that took me for ever to understand because I did not have all of the wonderful help and support that Bella has. It will be a lot of repetitive and extra work but once we lower the expectations of the child and learn to meet them where they are and not push them down to where they can not rise and move forward with meeting the goal they develop confidence and know they can do things just need to do them modified. I also found that counting blocks help and number lines and charts help also a time table helps.

Any visual aid you can find get it there are a lot of extra resources on Amazon you can buy for super cheap in fact that's where I get most of my products from is Amazon I can search what I am looking for and chances are there are other people who need the same things

I hope this helps answer more in-depth and always talk with your child's doctor about if they know of any additional resources and services may be an in home helper can come in and assist.

If have any questions feel free to leave a comment below.  I would be glad to help answer any as always if youi found this helpful leave a comment like and share.

 

 

 

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/