My oldest son, Roman, was diagnosed with 22q11.2 deletion in 2010 at 3 years of age. I wrote this prior to finding out about the chromosomal deletion and at the beginning of the journey. Tuesday Roman goes in for his 5 procedure. These moments written below really seem like a lifetime ago. It was very strange to reread. We now have 2 more children and have been through much with them. I'm kinda struggling to find the words.
One of the first questions we ask each other in our local support group for families affected by 22q is "How did you find out." Well, heres the beginning of our journey, written as it was at that time. Written March 7, 2010: Everyone has been asking about roman, so I thought I would just post an update for everyone to read. Its hard to go through the whole story over and over again every time a new person wants to talk to me about it, and quite frankly it's become very emotionally draining. A couple of months ago Romans pediatrician moved to Texas, having his patient file pushed off on someone else. I made an appointment with the new doctor due to an ear infection roman had (again). This new doctor stressed having him see and ent to get tubes put in due to all the ear infections he has had. He also suggested that he get his hearing tested.
I had made both appointments and was able to first get his hearing tested before seeing the ent. Roman took his hearing test, and as I watched the sounds that I could hear, with what hearing loss I had, he couldn’t. I couldn't believe it. The results were that roman had mild to moderate hearing loss on the far side of moderate. They also took photographs of his ear drums and both were non responsive, with 0% vibration. During ear infections and recovery time Romans hearing loss would then be considered sever.
We were referred to a speech therapist and also an organization that would be a go between
for roman and what help there is for him.
Later that week we went to the pediatric ent at the Cleveland clinic. The doctor took one look in Romans mouth and informed me that his mouth is “A-typical.” the roof of his mouth in the back of his throat is misshapen, and his uvula, which should be shaped like a punching bag is shaped like an upside down heart. This being the reason why Romans tongue will hang out and he will drool a lot. She was amazed that his pediatrician had never noticed this before. She also found both his tonsils and adenoids are abnormally large and was concerned about air blockage to the brain. She ordered blood work to be taken to check his immune system due to the countless illnesses (over 15 pages long) and referred us to a geneticist, a pediatric pulmonologist, and a pediatric neurologist. We were to see the ent again after having seen all these other people.
He has since had blood work ordered on him 3 times. This concerns me. Please pray that when we go again tomorrow that the get a good stick and that the amount they take is sufficient enough so we don’t have to keep going through that. We have yet to see the geneticist. They are looking to see whether the hearing loss is a hereditary thing or due to symptoms. Also they want to check to see what the mouth abnormality could be linked to. We went to the neurologist on Thursday and she found no reasons to believe he has anything neurologically wrong, praise God. She did however push the geneticist because there are several syndromes that could be linked to this defect. We go to the pulmonologist tomorrow, please keep us in your prayers.
Roman has been going to speech therapy for three weeks now. On his first visit his therapist started signing with him. He was captivated and caught on extremely quickly. I cried! She said that he was picking up on the signs so quickly and was really impressed. They would communicate so well and when we would leave roman would cry and scream reaching for her. Since taking speech therapy Romans temper tantrums are almost never, considering how bad they were getting a month ago. His frustration due to lack of communication has been helped through speech therapy. And it makes me so happy to finally communicate with my son!
The therapist told me roman has a lot going against his speech and verbal skills. His hearing is limited and the words he hears are extremely muffled. Then when he tries to enunciate a word he can't not only because he doesn't hear it properly but also because he is not able to make sounds that come from the back of his mouth due to the deformity in his pallet.
At the time of Romans first appointment with the audiologist she assigned him an advocate. She came and observed him at the daycare and laid out all the options that were made available for roman. She had mentioned at the time that Berea city schools had a wonderful preschool program for kids like roman. There he would get occupational and speech therapy all day. We lived in Parma and mentioned they may do bussing, but had we been residents of Berea it would be more of a sure thing. So that’s what we did. Two weeks later we had moved.
Here's the amazing thing. Through this whole experience God's hand has been moving so boldly that it can't be denied. All the appointments I have made for roman I have not had to wait longer than a week to get in. when I originally seen the audiologist its was 2 days after I had called, and 3 days later he was being evaluated for speech therapy. Maybe you don't see the significance of this, but every single person I have talked to has told me that the pace I'm moving along with roman and all his needs is phenomenal.
It was originally heartbreaking to have to take my child to speech therapy every week. But now I look forward to it. I’m so excited to find out what words we will be learning and I'm amazed at how quickly he picks them up. The amount of effort he puts into trying to talk is amazing. He never tried so hard before. My little guy is working so hard! His speech therapist said that while she usually will teach a child a sign or two during a session, roman can pick up four!
In two weeks I was looking for houses to rent in Berea with not much luck. We moved on to Middleburg hts and still didn't find anything. We happened to look at some apartments at the islander and none of them really was what we were looking for. But I knew that we needed to get roman in the Berea city school district. After much frustration and finding out that all paperwork had been put to a temporary stop until proof of residency Marian mentioned that we should go back to the islander in Middleburg heights. So we did. It was 2 weeks since the first time we had, and they showed us an apartment that had just opened up. It had brand new carpet, appliances, tile floors, counter tops, cabinets and so on…. I couldn't believe it! Then I found out it was on special as well! We moved in one week later. It was hard to go from a house to an apartment. But God has been supplying every one of our needs along the way. And even though we have cried more than probably ever befor, I know in my heart that God is in control. I'm amazed daily by Him.
The night we were first unpacking roman turned on the radio and started dancing! He had never done that before! There is significance in that simple moment, and a rush of peace when I think of it.
Please continue to pray for my family. I will keep you updated :)
Has anyone here ever tried prepackaged dairy free pudding? If not, its nothing more than a chocolate, watery slop. My son Noah loves chocolate pudding. It was hard to give up when we started transitioning into a GFCF diet for him but with a little practice, I think I have got a solution :)
The first recipe was delicious. All ingredients were from scratch and of course it was GFCF. This recipe is perfect if you plan to eat it the same day. But.. after a day in the fridge it turned into that sloppy mess I was trying to avoid. So if its to eat same day, and you really wanna wow your kids (or even some guests!) here ya go:
1/4 cup cocoa powder
(I like nestle 100% cocoa)
1 Tbsp of cornstarch
1/4 Tsp of salt
(I used sea salt)
2 cups of nondairy milk
(I like Silk Almond Milk)
1 Tsp gluten free vanilla extract
(I used 100% Pure McCormick)
Combine all dry ingredients into a saucepan and mix well.
Over medium heat gradually add the almond milk while continually stirring.
Whatever you do, don't stop stirring! You will burn the pudding!
Bring to a boil as you stir, turning up the heat a bit if you need to.
Leave on full rolling boil for 2 minutes as you stir. It will begin to thicken.
Remove from heat and stir in vanilla.
Refrigerate 2 hours, uncovered for it to set.
Because I am not very certain when and how much the kids will eat in one sitting, I found that this wasn't a really a practical solution for us. And because the consistency changed so much the day after it wasn't really "grab and eat" friendly. I didn't want to go the box route, but at least it is still GFCF.
From reading the labels at the store, it seems that the only boxed pudding that was GFCF was the Jello brand (watch out for the sneaky ingredients!) You can use "cook & serve" or "Instant." (I now only use instant, as I think cook & serve is for those who like it warm.) The first time I made this I ran into the same problem- after it set- WATERY. I was reading up more on cooking with almond milk and learned that you only have to use 1/2 of what it is originally called for in the recipe. So if the box says to use 3 cups of milk, use only 1.5 of almond milk!
And it tastes great! I just pour it into a jar and its good for a whole week! Happy mama, happy chocolate faces!
Yay for sensory bags! Here's some of my creations!
Noah loves them :)
I used 1 gallon zip lock bags, and I also double bagged them. Noah still likes to get input from his mouth, but if your child doesn't have those issues you wouldn't need that step. I sealed them up with some heavy duty duct tape and there ya go! When he gets bored with these I will think of some other themed bags to make.
All my items were purchased in my local Walmart store. I just went through all the aisle and looked for little objects that would show through the hair gel well.
Hi. I'm coughing my stupid head off and finally forced myself to come here. Everyone in my house has some funky bug that won't let up, so if anyone can't be sick, it would be me. They made me wear this stupid mask as soon as I told them I was coughing. Uhg, everyone is looking at me like I've got leprosy and kinda "leaning" in their chairs, towards the OPPOSITE direction of me. WHATEVER.
I noticed you as soon as you came in. You looked like a Mom, hair piled on top of head, no make-up on. Had that classic disheveled look that I am learning to know all too well. Your Son was very handsome, with mixed skin and bright blue eyes. He was tall and stocky, and his frame instantly reminded me of my Noah Robert. I'm guessing your son was maybe 10 or so.
As I sat in my chair, annoyed that I couldn't get cell reception so I could putz around on Facebook, something caught my eye. Your son made this hand gesture. Placed against his hip, with fingers spread and hand cupped, it turned in and out, over and over. Noah does that sometimes. I watched you, watching him as you were signing in and going over insurance issues with the nurse at the desk.
I knew your son was autistic.
And I couldn't keep my eyes off Him.
I want you to understand something. I'm not like these other ignorant or maybe sometimes insecure people who stare strangely at our children. Was I staring? Yes. Yes, I was staring, studying, and watching You AND Him with the biggest amount of hope that I have ever strived for.
One time when I was in Target, a group of young men were guided around the store by what seemed to be their instructor. I assumed the group developmentally delayed guys were with their class learning about shopping at the local store. I hate to admit it, but I started to stare. I couldn't help it. I wondered "will that be my Son?" I fumbled around the shelves and I listened to the clicking and random shouts. I thought "Noah does that now, Will he do that then?" But soon I was discovered, as loud and authoritative tone shouted "Hi! How are you? Have a nice day!" while looking me dead in the eyes. The instructor was acknowledging the fact that I was being rude. Good for Him. I would (and have) done the same thing for Noah.
But please, Mom at the urgicare, let me explain. I was not trying to be rude. I searching for any glimpse of the future that I can. So please have more poise and patience as I study you and your son!
So, finally, me and your son lock eyes. You seemed to notice. He couldn't keep his eyes off me, I couldn't keep my eyes off him. I was trying to smile, but this stupid friggin mask is in the way. He got up from his chair, and with His eyes bulging out, he slowly walked closer and closer to me. You prompted him to sit down, but he acted like you weren't even in the room. I waved to him and said "Hi!" He froze dead in his tracts. My eyes shot to you. "You've got that mask on. He probably thinks your a ninja or something!" You laughed, as I did too. Ok, that makes total sense. Slowly your son backed up never taking his eyes off me, sat back in his chair and kept looking over his shoulder in my direction. It was sweet.
As I watched I was just overjoyed that you were clear across the room having a full conversation with the receptionist while he remained calmly on the other side of the room. Not trying to run away. Not climbing on everything. Not yelling or screaming or touching other peoples belongings. I was grinning so big under that stupid mask, let me tell ya!
I'm sorry, looking back I realize I was indeed staring. But I wasn't judging. I wasn't condemning, And really since this day I have a new found approach when I do see older autistic children out in public. Your son AND you gave me hope on a day that I was simply trying to get relief for an annoying cough.
I was called back and your sons eyes followed this "ninja" the whole way out the door. I kept thinking about your son as the chatty nurse went over my symptoms and currents medications, and blah, blah, BLAH. The nurse started telling me she has adopted a 5 year old girl, and that she had dental issues, and then somehow jumped to her nephew who is now in a special department in the Navy, who didn't start talking till he was nine, who was once diagnosed as autistic but is now considered to have aspergers, and "just how incredible is that?" In the midst of everything the rambling nurse was blabbing on about I realized a "God moment" had just taken place.
Those are THEE BEST AND MOST SWEETEST MOMENTS you can experience in this life. When in the midst of normalcy and the mundane, God orders and ordains a series of events to revive, rejuvenate and encourage and weak and weary bag of flesh and bones.
Maybe I will never see you again, lady in the urgicare waiting room, but I will never forget you!
Lady looking for hope in the urgent care waiting room