Hey Reddit! Hopefully you guys can help me raise a little awareness for a good cause. A little about 22Q- it is the second most common chromosomal disorder after Down's Syndrome, yet sadly almost no one outside the 22Q community has heard of it. Help me spread the word!

EDIT: picture of my little pirate! http://imgur.com/jIEPx9o.jpg

EDIT 2: OK its past midnight here so I'm hittin the hay. I promise I will answer you all in the morning. Thank you all so much for your interest and you kind words. Goodnight Reddit!

EDIT 3: Woke up to see this on the front page! You guys are so awesome, I could have not asked for more visibility! My hubby and I will continue to answer questions but I've got some parenting to do too. THANK YOU SO MUCH! You have made my month!

Comments: 390 • Responses: 53  • Date: 

lagnaippe372 karma

please describe what it is.

mychickachicka281 karma

22Q Deletion Syndrome means that a very small piece of chromosome 22 is missing. The actual syndrome manifests itself in very different ways from person-to-person. Some people are very mildly affected while others are on the severe end of the scale. About three out of four of these children have serious heart defects and some even die at or shortly after birth. There are also children with serious immunity problems. These are only a couple of ways that the deletion syndrome manifests itself. There is actually a list of 187 symptoms- one person with 22Q may only have a one or two symptoms while others may have several. Luckily my daughter is in the mild range of this disorder, except for one aspect- her speech. Some people are so mildly affected that they may not even know they have the deletion.

Polite_Insults68 karma

Is it possible to have all the symptoms or are they conflicting?

mychickachicka95 karma

Theoretically I suppose it's possible to have all the symptoms, but pretty unlikely. Even those most severely affected usually have maybe 25-30 different symptoms, while those on the mild end have only a few. Usually the severity of the overall disorder is due more to the severity of each individual symptom. For example, my daughter has long, tapered fingers, which is a symptom, but that's not a bad thing! Maybe she will become a pianist or guitar player like her father. Her biggest problem is with speech and sensory issues. Another 22q person may have had numerous heart surgeries, perhaps some mental capacity problems, immunity problems. Everyone does it differently.

Ackis37 karma

Knowing little about the syndrome (22Q and Downs) it sounds like people with 22Q have a good chance at living a standard life, whereas people with downs don't? (I used the word standard because I'm not sure what else to use)

I'm just curious why one is so much more "known" about than the other. I had never even heard of 22Q until I read this post.

PS: Your daughter is adorable :)

mychickachicka37 karma

Here's the thing...when you see a person with Down's, you instantly know it. They all have similar facial characteristics that make it easy to recognize. You don't always know it when you see a person with 22Q. Although 22Q also has a specific set of facial characteristics, they are generally much harder to notice. The trained eye can see them, like how my daughter has a small mouth, slightly low-set ears, and the bridge of her nose is a little wider than average. Most people look at her and see nothing but a cutie patootie. Thank you for the compliment. :)

In general, most people with 22Q grow up to attend school, even college, and are able to live independently, maybe with a little help from others. There are the few that are severely affected and may need to live with their parents or a group home. I am very optimistic about her future, but if I think too far ahead I get a headache.

HeartyBeast16 karma

Yes, I think that OP explains why it's low profile. It may be a common defect, but three quarters of the suffers don't make it out of the womb. The remaining quarter have such a variety of symptoms that they have little in common.

mychickachicka20 karma

Just to clarify what I said earlier, 75% are born with heart defects, but those are usually corrected with surgery at or shortly after birth. Although some 22Q kids die at birth, it's a very small percentage. Hope that makes more sense.

HeartyBeast13 karma

Apologies, you're original comment was perfectly clear, having re-read it. I was a twerp. Thanks for setting me straight.

mychickachicka6 karma

No worries. :)

lagnaippe5 karma

thank you and blessings. I hope you and your family find ways to overcome obstacles.

mychickachicka1 karma

Thank you very much.

iamrenata4 karma

since your daughter has a speech problem due to this syndrome, and I'm assuming her mobility is fine, would teaching her sign language while she speaks help her communicate better? I know that many parents of hearing children (parents are hearing as well) teach their infants some sign language to help them communicate. Things like: milk, food, more, thank you etc. They do it because babies at that time haven't developed speech so the signing helps baby and parent. Do you think this would possibly help you? I understand that being her parent, you obviously know and understand everything she says (much like how parents know which identical twin is which).

mychickachicka3 karma

She does use a little sign language but due to motor apraxia she has difficulty with some of the more fine motor movements required in some signs. That did help us a lot when she was a younger. Now that she's growing up we've got to get her learning language more and that's where her talker comes in.

BluesFan43185 karma

Your daughter is a cutie pie!

I have a 22 year old w 22q11 deletion. He has mild immune issues,learning issues, sensory issues, speech issues, mild social anxiety, and Truncus Arteriosus.

Had his first open heart surgery at 5 days old. No Thymus seen, low native T cells on assay, ( he had had transfusions and been on bypass by this time, so determining his T for donor T was thought.)

Low calcium, which, of course, affects muscle response, and since the heart is a muscle, more issues.

School was a struggle. But he made it. Wants to take college classes, but when he tries he gets frustrated, refuses to give up though.

He has had 4 open heart surgeries, quite a few tripse to the Cath lab, massive stents in his pulmonary arteries, and right now hasa Medtronic Melody valve as his pulmonary valve between heart and lungs. That wasa 22 mm valve placed in the Cath lab instead of open surgery, medical science rocks!

He does well overall, but someone will always need to look after him. He can't cook or drive, for example. But he is very good at some other things. Keeps up w his money pretty well. But likes to be home, crowds are tough on him.

Gotta go, will try to catch up tonight.

Peace and love.

mychickachicka10 karma

Thank you! It sounds like your son has had it a bit rough, but isn't it amazing how much they can accomplish despite the diagnosis? I love to hear stories about adults with 22Q. You've made the best of things, and you know the true meaning of wanting nothing other than your child to be happy. I have had plenty of guilt over "comparing" my experience with that of others, and I know that despite our struggles we have been very lucky and have it pretty easy. I could not imagine having to go through heart surgery and dealing with immunity problems. You are a true mommy (or daddy) warrior!

duck_jb2 karma

How do you feel about that "Welcome to Holland" poem? In my time working with parents I have met some who love that poem and others who despise it.

mychickachicka3 karma

I absolutely love it. I actually posted that poem in response to another question. I can't really understand why anyone would despise it.

bryan_rosencranzton110 karma


mychickachicka68 karma

Woot Woot! I was hoping this would happen! I'm sure we'd love to hear your story. As you know every kid does it differently. Also please drop me a PM...I'm sure you know how hard it can be to connect to other 22Q families! Guess we better keep your kid away from mine because she attracts boys like flies!

iamrenata5 karma

If your child has this, does it mean that if they were to have children, they would have a higher chance of having the syndrom? Or is this something that goes haywire and anyone can get it? Sorry for poorly wording this question, I'm not well educated in these syndromes.

mychickachicka5 karma

Anotherf fantastic question. She has a 50% chance of passing the deletion onto her child. When it comes time for her to have children if she decides to do so the best option to conceive her own blood child would be IVF. The deletion is only located on half of her chromosomes so half of her eggs are affected, the other half are not. Doctors can retrieve her eggs, separate those with the deletion from those that don't, fertilize the "good ones" and place it back in her womb. Of course there's always other options like adoption too.

Roughly 90% of 22Q cases happen spontaneously to unaffected parents, as it did to my husband and me. The other 10% are passed down from a parent, usually one that doesn't know they have the deletion.

sup3rmark3 karma

does he also have long fingers?

mychickachicka4 karma

Yes she does! My hubby and I were just comparing her finger/hand scale with our a few days back. You are 100% correct.

manicstpreacher67 karma

what is the hardest thing?

mychickachicka172 karma

The fact that despite being parents for 3 1/2 years, we have never heard our child say "I love you".

angeluray64 karma

As a new parent (and postpartum mess of hormones) this made me cry!

mychickachicka6 karma

Congratulations! Hang in there...I was a postpartum mess too- it does get better I promise!

coilla57 karma

oh, I know that pain, and I am sorry. My oldest daughter started speech therapy at the age of 18months, and was just recently released at the age of 10. We now know she is on the autism spectrum. She was 3 before she started verbalizing anything, and those were small words, not sentences yet. It was another year or two before we got simple sentences like "I love you". The hardest part for me, is now. She has a baby brother who is exploding with language and when he started to say "Mama" and "Daddy" she asked me when she first said that and I had to explain to her that when she was younger she didn't say anything at all and that she was 4 or 5 before she was able to say "mama" and "daddy" and it was heartbreaking to have to tell her that.

mychickachicka2 karma

Thank you for your empathy. Have an update for being a great mom (or dad).

jetzt14 karma

Is sign language an option?

iamrenata3 karma

that's what I asked OP, also. I figured since OPs daughter has speech problems, maybe signing it would help their communication. The thing is, they are the parent so they know what their daughter is saying. It's like a parents knows which identical is Mike and the other is Paul....

But, on the other hand, hearing parents teach their hearing infants how to sign since their mobility is developed, just not their speech.

mychickachicka1 karma

You bring up a great point. We can pretty much figure out what she is saying, but the world consists of more people than just our immediate family. So even though we can pretty much figure out what she's saying based on her motions and maybe a few signs. There's a whole world out there that she has to learn to communicate with so that's where her "talker" comes in.

Inostroza37 karma

when did you find out your child had this? in the womb or after birth?

mychickachicka69 karma

We found out that our little girl was affected about three weeks after she was born. During my pregnancy with her the only thing the doctor was concerned about was the amount of amniotic fluid- I had about twice as much as normal. I saw a perinatal specialist and they examined her as thoroughly as possible before she was born but they could not find anything wrong with her structurally. We were told at that time that the excess amniotic fluid was probably just a fluke. However after she was born she had fluid in her lungs and had to be put on a breathing tube for a day. She was taken to the NICU And when they try to feed her the milk would come out of her nose. Then they said that they detected some slight seizure activity in her brain. She was then transferred to children's hospital where every single specialist under the sun had a look at her. Someone from the genetics department came by and noticed some very slight facial features that suggested possible 22Q. They did a specific test for it and lo and behold that's what she had.

k_alyd30 karma


mychickachicka49 karma

Not at all. There is a specific test called the FISH test that only looks for this deletion and it can be done either through CVS or amniocentesis. You get the results back in a couple weeks. It is not included in what the standard genetic tests look for, so it won't be offered unless the doctor has any reason to think it's 22Q. But say your sonogram shows a major heart defect- then the doc might bring up 22Q and suggest testing for it then. But for the most part people don't worry about having a child with 22Q because no one knows about it. That and the rate of incidence is 1:4000 so even though its not really a rare disorder but it's rare enough that we still don't have enough people in the know.

db025521 karma

Not to be nitpicky, but FISH can be done on a host of genetic disorders. You just need a specific one for each.

mychickachicka1 karma

Good to know!

indignant_meerkat31 karma

First off, your daughter is absolutely adorable! Love the pic you posted. Second, I've been reading through your comments, and I'm so impressed by your outlook on your family's situation. One of the most important things for any child is to have parents who are able to have an optimistic view on life regardless of the circumstances. It is clear that you will be providing a good model for optimism as your daughter grows up!

On another note, thank you for the AMA! I work at a camp for kids with a range of dif-abilities, and we have a child coming this summer with 22Q and I was talking with my coworkers today about how we really need to read up on it. So this has been most helpful! Thanks!

And as for my question, I know it's a little bit down the road for you, but have you thought about what sort of school setting your daughter will benefit from when she reaches that age (inclusion vs. specialized program)? Do you feel as though your local school system will adequately meet the needs of your daughter?

mychickachicka23 karma

On my gosh thank you so much for your kind words. It means so much to me. She is actually in school already and it has made a world of difference. We have seen her change from a child who sits in the corner watching everyone else play to a child who willingly participates in all kinds of activities with other children and enjoys it very much. She attends a private school for typical children two times a week and The state of NC has her in a program for special needs children through the public school system twice a week as well. So far I am nothing but completely impressed and thankful for all of her teachers they have been doing a absolutely wonderful job. I have had nightmares about parents of special needs children within the public school system so I'm not really sure what the future holds but if her education continues to go as well as it has so far, I'm not worried at all. She knows all of her letters, numbers, colors and pretty much understands just about everything that everybody says. The most improvement we have seen is in her social skills- those are really taking off by being in school.

Proportional_Switch23 karma

How old was your child when you found out?

How old are they now?

What symptoms do they have?

mychickachicka52 karma

She was about three weeks old when we found out -see above comment, and she is 3 1/2 years old now.

When she was born the biggest problem was with her feeding all the milk would come out of her nose and her oxygen level would drop at the same time. We found out later that she had what is called a submucous cleft palette, Which means that the muscles in her throat that people use to swallow and talk don't work so well. She did have surgery to help correct that problem, but her biggest problem as of now is that she cannot speak. She communicates through a speech guided device ala Stephen Hawking.

twofinedays19 karma

Is sign language a possibility? Maybe in addition as she could only use it to talk to other signers but Stephen Hawking thingo seems really slow whereas sign language is really animated and natural way to communicate.

mychickachicka24 karma

We did start her off with sign language, but she also has what's called apraxia, motor and speech, and that makes the fine motor movements involved in some of the signs are pretty difficult for her to make. She does have a cache of about 10-15 signs that we can get by on, but her speech guided device is what's going to help her learn language, which is different than speech.

critbot217 karma


mychickachicka28 karma

More and more all the time! We were lucky enough to get our insurance to 100% cover a fancy AAC device that costs a small fortune. The ipad has made a huge difference in accessibility. You can run the same program that our girl has on her machine and on the iPad. Learning how it works has been mighty interesting!

critbot217 karma


mychickachicka20 karma

Me too! It has changed our lives! She machine she uses is an Accent 1000 and the software she uses is called Words for Life. She was on Unity, but I attended a seminar from the Center for AAC and Autism, and I thought Words for Life were a better fit.

Thank you for the work you are doing, it means a lot to all of us parents of special needs kids. They gotta grow up, right?

BabyBuddahBlues10 karma

What is her prognosis for talking in the future? Does she make other kinds of vocalizations in an attempt to form words that you've learned how to interpret?

mychickachicka3 karma

We don't really know what her long term prognosis for speech is. It's not great, but that doesn't mean we stop trying. She does have one word that she can say- "mama". She does make all kinds of other vocalizations, screeches, grunts, squeals, screams. Oh my gosh it can drive you nuts but its better than silence. When you ask her to say something, you can see the wheels spinning, and you can see her mouth move a little bit, but she just can't form the sounds. Most of this is due to the apraxia, but part of it is due to low muscle tone in her face as well as the rest of her body. Especially when she was younger, she had this "deer in the headlights" look on her face most of the time. Expressing and recognizing the more subtle facial expressions of others are very difficult for her.

swimcool0821 karma

I hope for all the best with your family and your daughter. If this disorder is so common and so many people are affected, why do you believe there is not greater awareness about the disorder? I have a rare genetic disorder and i know how hard it is to get people to understand, but with this being so much more common i would have thought that it would be better known by people and doctors.

mychickachicka23 karma

I believe there's not greater awareness because so many people are walking around so mildly affected that other people would never know. Some people with 22Q deletion syndrome have very specific facial characteristics, Some of these characteristics can be very obvious, but others, like my daughter, the untrained eye would never know, but they are there, just slightly though. If anyone would like to see a picture of her I would be happy to upload one.

If its not prying, might I ask what your condition is? Please feel free to not answer if it's too uncomfortable.

swimcool0824 karma

I am very open about my condition, i believe it helps for people to understand that even though someone looks normal, they may not be. i have a syndrome known as Elhers Danlos syndrome. It is basically a problem with my body creating collagen, and for me i have trouble with my joints, heart and a few other internal organs. Same as your daughter, unless someone really looks at me, they would never know. Like i have handicap parking because i cant walk more than a few hundred feet without intense pain, but otherwise walk without a problem; i have had people come up yelling at me for falsely using handicap parking, because they don't think i am disabled enough for that or that i am faking. I just hope that people begin to understand that everyone is different and arent necessarily as they appear. Hope your daughter is doing well.

mychickachicka35 karma

If I were you I would carry around some papers verifying your diagnosis, and the next time you get yelled at, politely pull out your documentation and then engage them in the most boring diatribe about your condition. They will walk away feeling like an asshole and probably never do it again. :)

Adolf_Hitler__21 karma

Vell, i vish das best for your child. Good luck rasing money for das event.

mychickachicka34 karma

Thank you very much but I am not doing this for any money, just awareness!

siegel_caww16 karma

I know you said elsewhere your daughter can't speak yet and that she is mild, but what else comes with the disorder? (Mental retardation, stunted growth, etc.)

mychickachicka25 karma

The most common problems are heart defects, problems with immunity, low levels of calcium in the blood, and developmental delay. As they grow older, about 90% have some sort of learning disability, and IQ's tend to be right around or just below average. They are also at an increased risk of developing mental illnesses such as schizophrenia, depression, anxiety, and bipolar disorder.

My little girl is developmentally delayed, and the other part I forgot to mention is that she also has sensory processing disorder. As a result of the STD she constantly looks for visual stimulation by getting up very close to any kind of screen and constantly playing games with our iPad or iPhones. She also has tactile sensitivity.

EDIT: correction above- as a result of the SPD, not STD. Major misstype! Too funny though.

siegel_caww7 karma

I'm sorry for the pain that you, your family, and she must go through. Is she aware that she's different from other kids her age?

mychickachicka19 karma

Thank you very much but we consider ourselves to be very lucky in the respect that none of her symptoms are life threatening. 75% of these children born with 22Q have serious and often life-threatening heart defects requiring multiple surgeries, and her heart is perfect!

I would say that she does not know quite yet that she is different from other children, but eventually that day will come. My husband and I have not discussed yet quite how to address that when it happens.

siegel_caww6 karma

Best of luck to you and your husband. I'm sure it's not easy, but I'm also sure you guys will persevere and somehow turn this into a positive. Maybe your daughter will be the one that a doctor is checking out and finds some type of cure or preventative action.

mychickachicka1 karma

Thank you!

IsaballaArielle15 karma

Do you have other children? If you decide to have more is there a high chance of them having this as well?

mychickachicka24 karma

We also have a 13 month old son who is not affected. Before we conceived him my husband and I both tested negative for 22Q, and we had genetic testing done on him before birth too. 90% of 22Q cases happen spontaneously to unaffected parents, while the other 10% are passed down from a parent, usually one that doesn't know they have the deletion.

msstitcher10 karma

Hiya.my little brother ( now 22) has 22q11 defiency but when he was younger they didn't really know what it was or whether all his problems are linked ( hearing,sight,speech,sleep apnea , hole in the heart , clef palate , immunity problems , developmental delay , flat feet, aspergers to name a few) and so he didn't get the help that is available now. So I say thank you for raising awareness! Because that is a really important thing to do. My son has a genetic disorder that he inherited from my husbands side of the family and my mother in law was in tears at seeing how much more help is available to us now.

mychickachicka1 karma

You are very welcome...we are all in this together and the 22Q community is too fractured right now. Before they actually located the deletion on the DNA strand in the '90's there were several syndrome that can now all be attributed to this deletion. I'd love to hear your little bro's story and I wish you all the best with your son!

Imryanz10 karma

I have a friend with 22Q Syndrome. His is very mild, there's no noticeable problems except his speech. He cannot talk clearly (I can distinguish some words because I am used to his voice.)

Anyways, he learned sign language and I know sign language as well (I'm deaf).

A lot of people mistaken him as a D/HH student but he has interpreters for sole purpose of him communicating to his teacher/ peers in classes.

He is now in college and holds a part time job. He's doing great and I can't wait to see him this summer when I come home from college.

Just wanted to drop in to say I can (somehow) relate. Best of luck with your daughter and I wish you guys a happy life!

Sorry no questions, but excellent AMA!

mychickachicka3 karma

Thank you! It's wonderful to hear about a "friend" with 22Q because socialization can be very difficult. That is one of my main concerns about my daughter. Kinda hard to make friends if you can't communicate effectively. He is lucky to have you as a friend.

ebz376 karma

You said your daughter can't talk, does she use sign language? Or has she come up with her own way of expressing herself? I was a late bloomer in speech bc of a traumatic birth, and I learned to talk with my body to tell my parents stuff. (I finally got around to talking but it wasnt easy.) Curious if your daughter is doing the same.

mychickachicka1 karma

She does have about 10-15 signs she uses, but motor apraxia makes the fine motor movements involved in signing pretty difficult. How do you "talk with your body"? Are you just referring to body language in general or do you have some kind of method? Glad you made it into this world. :)

ebz371 karma

just general body language. Though sometimes I would mimic the dog, and go to his kennel when I wanted to hide from my parent because I did something wrong. Lol parents make sure I never forget that awkward child moments

mychickachicka1 karma

That's hilarious...I don't think she purposefully uses body language to communicate, maybe when she gets older. She does a lot of pointing and things like that.

emack865 karma

Your daughter is beautiful.

mychickachicka1 karma

I know. ;)

Thank you!

cassidoodle4 karma

Okay, I just read tidbits about this from wikipedia... I guess my question would be this: are there any pronounced similarities to Down's, other than the missing tidbit of the chromosome 22? And if so, what?

Have you needed to do any therapy similar to one with Down's? Speech therapy, yoga, horseback rides, or other?


mychickachicka1 karma

22Q deletion is very different from Down's. Down's is also known as Trisomy 21, meaning instead of a pair like most people, you have 3.

We provide her with speech, occupational, and physical therapy. I am also looking into equestrian therapy, thank you for reminding me!

IckPooYuck3 karma

My son passed away at age 30 days due to DiGeorge. Thanks for the awareness link. Your little girl is adorable.

Sorry if this sounds stilted - wanted to show my appreciation but it's hard for me to talk about.

mychickachicka4 karma

I am so sorry for your loss. We feel incredibly lucky and blessed that none of her symptoms are life-threatening and that her heart is perfect. Please send me a PM if you would ever like to talk. I mean it.

MintyLotus3 karma

What's your greatest challenge with her? How do people react to her in public?

mychickachicka3 karma

Communication is by far the biggest challenge. Her talker is helping with that A LOT. Sometimes people in public will ask her name or ask how she's feeling, or any other question you might ask a young child. I usually just answer for her and right now she's so young that most people just assume that she's tired or something like that. As she gets older we're probably going to have to figure out some sort of standard response when that happens, but right now we haven't really crossed that bridge yet.

blargblargityblarg3 karma

Really interesting AMA! Your daughter seems awesome. She many not be able to speak but she sure looks like she says alot!

mychickachicka1 karma

Thank you. Believe me, she does.

xalemus3 karma

You must mean Phelan-McDermid syndrome...

Edit: Downvoted for asking an honest question? I'm almost 100% certain that 22q deletion is Phelan-McDermid syndrome.

mychickachicka6 karma

Certainly is - upvote here ;>

DiGeorge is 22q.11, Phelan-McDermid is 22q.13

Braintree01733 karma

I have 22Q, although I am at the extremely mild end of symptoms: I had hypocalcemia when I was a newborn, and I suffer from mild peripheral cyanosis, especially when it's cold. Also I have a nephew (not blood related) who suffers more severely, with heart problems and other issues. I am glad you did this AMA because it brought the 22Q Foundation to my attention and brought the existence of the condition to the awareness of others. Thank you.

mychickachicka2 karma

Oh thank you for mentioning the 22Q foundation, I forgot to bring it up. I should probably put a link in my original post. Make sure to hit your local zoo on the 19th!

CocoaBagelPuffs2 karma

Hi, I'm a little late to the party but I wanted to say a few things.

First off, your daughter is adorable. I love her little ears. Too cute!

I'm in high school and for the past 4 years, I've been volunteering at a therapeutic horse riding school. I help kids with all kinds of disabilities ride horses and learn about horses. I've worked with kids who have mild to severe autism, Down Syndrome, Cerebral Palsy and other kinds of developmental disorders. I've never worked with a kid with 22Q, so I've never heard of it.

Have you ever thought about doing horse-riding therapy for your daughter? It's a really effective form of therapy and we've had a lot of improvements with kids with speech problems and motor issues. It can help her with her fine motor skills when she gets older. If she likes animals, I'd ask he if she'd like to try being a horse-back rider.

I have a brother with Asperger's and because of my personal experiences and volunteerism I've been looking into being a special education major. I hope everything works out with your daughter and hope everything goes smoothly for her.

mychickachicka1 karma

Yes! I would love to get her up on a horse! Her dad is allergic so we'd have to make sure that she isn't as well. Thank you for the work you are doing! Good luck with your career plans, you have made a wise and noble choice. I am also considering going back to school to obtain a special ed teaching certificate.

Evophilia2 karma

I actually have this. I had a ton of surgeries when I was a child, mostly had heart and ear issues as well as a hernia. Everything's fine now thanks to science.

Thanks for making this thread!

mychickachicka2 karma

You are welcome, and glad you are doing so well!

boscastlebreakdown2 karma

Hey there! I used to work with disabled children when I was younger, and I have to admit I've never met anyone with 22Q. If you were to describe what 22Q means to you as a mum and as a whole family, what would you say?

I am now a geneticist, and I was wondering if you wanted to ask me anything, or if you have any neat facts about 22Q that will help rally some interest in my genetic counsellor friends.

Keep on being awesome!

mychickachicka3 karma

Thank you so much and what a great question! There is a poem called Welcome to Holland that perfectly describes what the experience of having a special needs child can and should be like. Here's the poem:

WELCOME TO HOLLAND by Emily Perl Kingsley.

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

I can't really think of any questions that I like to ask you but I do think that one of the more interesting things about 22Q is that many people are walking around with it and don't even know that they have it due to such mild or occasionally non-existent symptoms. Thank you for your work! We'd have never got a diagnosis if it wasn't for that one geneticist who said "hmmmmm, unlikely but lets test her for 22Q just in case."

boscastlebreakdown1 karma

I have a sister with cerebral palsy, and I think this poem is both a good description of being a carer and also going to holland!

I will tell my counsellor friends, but they all think I'm a hoity-toity researcher who doesn't want to do real work anyway, so they probably won't listen :P

mychickachicka2 karma

Are you serious? It's people like you who are the lifesavers. The ones who are curious about different conditions and willing to learn. If they aren't interested, then they are not going to make a single difference in this world. You, on the other hand, are on track to change many many lives for the better. Well done.

K8tothewags1 karma

As a fellow mommy to a 22q(t)- THANK YOU!!!! We are constantly struggling to raise awareness for this syndrome, and I appreciate your effort more than I can express!!!

My daughter with 22q is named Aubrey, she is 19 months old, and the best kid I ever could have imagined being the mother to. At 3 months old, she endured an open heart surgery, and it was during this surgery they discovered her thymus was missing. This led to genetic testing, and ta-da, 6 days later, we had our answer that Aubrey had 22q. We've been so lucky that her syndrome presentation has been mild so far- heart issue that was corrected with surgery, and some low immune numbers, but miraculously, she's rarely sick! She's speech delayed, but using sign and her receptive language is coming along.

Thank you again!!

mychickachicka1 karma

You are very welcome...and thank you for sharing about your daughter. Heart surgery and a missing Thymus. wow. Did she need a transplant? I've heard it's pretty rare to be missing the whole thymus. Just out of curiosity, what part of the country do you live in!

madeinamurica1 karma

So now that we know it exists what do we do?

mychickachicka1 karma

Bring it up in conversations when and if the topic of genetics come up. Ask questions. If you ever meet someone and are reminded of this post, say something. More awareness ultimately leads more money for research, better public services, aid for families who are affected by 22Q.

not0your0nerd1 karma

How did you feel when you found out what she has?

mychickachicka2 karma

I'll be honest it was a very hard pill to swallow at first. We were given the diagnosis over the telephone and the geneticist told us specifically not to Google the syndrome before we came in and spoke to her about it. Me being me, of course that's the first thing I did. I know now why she told me not to do that. The Internet is full of horror stories and I feel like I read them all. Over time I came to accept the diagnosis and now feel very comfortable with it. She is a happy child and does not suffer from her condition. She may have to do things a little bit differently than everyone else, maybe a little bit slower than everyone else but eventually she will get there, and that makes me feel great.

optic9yearold1 karma

Wouldn't it make more sense to have the 22q at the zoo on May 22nd instead of 19th?

mychickachicka2 karma

Ha! Sudden Clarity Clarence. I guess it never occurred to anyone. :)