Monday, April 22, 2013
Before The Diagnosis
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 :)