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I am the Momma of 8 children. Seven here on earth and 1 precious little Angel in Heaven. My children range in age from 2 months to 25 years. My 6 year old was born with a laundry list of complex medical conditions. He has Trisomy 21 (Down Syndrome), a rare brain malformation, which resulted from a mutation of the PAX-6 gene, bilateral anophthalmia, which means that he was born without any eyes, so he is totally blind. At the age of 2 1/2 months old he had to have a tracheostomy to help aid in his breathing. He is hearing impaired, with normal hearing in his left ear and has profound deafness in his right. At 3 1/2 years he had surgery to have a Mic-Key button placed in his stomach (feeding Tube), which is mainly used to give him his medications. He also has insulin dependant diabetes and wears an insulin pump, which gives him a continuous dose of insulin. Even with his many dis"abilities," including being globally developmentally delayed, he has accomplished more than anyone would have ever believed that he could. Join us in our journey living with a Dis"Abled" child....

Monday, September 20, 2010

The Good, The Bad

When in life you are given lemons, make lemonaid. When I first read this quote 6 years ago, I knew I had to find something positive to focus on when given bad news or faced with a difficult situation, just to be able to keep my sanity. Today was no exception......

Today Emily, Nathaniel and myself all had appointments at Duke Eye Center. My visit was with Dr. Afshari, my corneal specialist. This was my 3 week post-surgery visit. Everything looks great! I can't put into words just how happy I am to be able to see once again. To be able to help take care of Timmy's medical needs. To be able to take care of my own personal needs. To be able to read with Emily and play computer games with Zach. To be able to continue with this blog. And the most important thing in my life, is once again the ability to be able to read. Reading is my life. Without the ability to read I felt lost and thirsted for information, knowledge and the satisfaction that comes with having read a good book.  I so missed doing all of these thing for 6 looong months.

Emily and Nathaniel both had visits with a Pediatric Genetics Opthalmologist. Floyd took the kids over for their scheduled appointment, while I waited to be seen for my appointment.

Emily's eyes were checked first. Her vision is perfect. We didn't need an opthalmologist to tell us this. Emily misses nothing! In the mornings before we leave the house to go wait for the school bus (her bus stop is directly across the street from the house), Emily will open the window shade so that she is able to see through the window what she is missing in the house. Timmy's nurse's will hear about whatever she may have missed if she feels that it was important enough that she have been involved.

I walked in just as Dr. Young had finished examining Nate. I immediately knew something was wrong, aside from the fact that Muffin missed his Mommy and needed to cuddle, when Floyd suggested that I take Nate, sit and cuddle with him, that he needed his Mommy after what Dr. Young just discovered. My heart dropped to my stomach. It took every ounce of my being for me not to cry. Voices in my head kept saying NO THIS CAN'T BE TRUE!.... SEEK A SECOND AND IF NEEDED A THIRD OPINION! My heart knew the real truth, even though my head is still in denial. Before I got pregnant I knew the odds were stacked against me. I was willing to take that gamble. With Nate now having the diagnosis of aniridia and possibly glaucoma, I feel I still won the genetics gamble. Nate is such a good natured baby. Crying only when he is wet or hungry. In such a short time he has brought so much joy to our lives. And he makes me feel that our family is complete.

Now is where I start to make my lemonaid.....

Who better to care for and raise a baby with a visual impairment, but 2 parents who are visually impaired. We have the knowledge, skill and have mastered the tricks necessary for survival as a visually impaired child/adult in what is sometimes a not so friendly world.

We received Nate's diagnosis early. Now we are able to start the process of getting him vision therapy, which will aid Nate in learning to use any useful vision that he may have. If we had found out months or even years down the road, we would have lost a lot of ground in getting Nate the assistance he needs. If he should have glaucoma, by not knowing the diagnosis early any useful vision could be lost due to damage to the optic nerve from the inner occular pressure.

Learning the diagnosis now, we have the opportunity to seek getting Nate an MRI to rule out any brain malformations, which may need addressing with medical intervention or other therapies.

Being that some people with aniridia have hearing problems, we have started the necessary process of getting Nate an ABR (audiotory Brainstem Response) hearing test. Nate passed his newborn hearing screening, but the ABR is a more extensive test and will help rule out any problems, which may have been missed with the standard newborn hearing screening. Having this information early, if Nate should have a hearing problem, we will be able to get hearing therapy started and have him fitted for hearing aids or other devices if needed.

We know that Muffin can see. He startles when someone turns on or off a light in the room. He stares at his crib mobile and reaches for toys on the toybar on his bouncy seat.

He can hear, but how well? I feel that his hearing is fine. He startles to loud or unexpected noises. And he calms when crying when spoken or sung to quietly.

Starting in my 2nd trimester of pregnancy, I had an ultrasound 2 times a month. In my 3rd trimester, I had an ultrasound once a week. Even though ultrasounds are a tool and aren't 100% perfect in finding problems, I feel that with all of  the ultrasounds that I had if something serious was wrong it "should" have been seen. So far Nate has reached all of his developmental milestones, which also suggest that his brain is functioning properly.

So the plan as of now is for Nate to have a consultation with a Genetics Doctor. We have requested that Nate be seen by Dr. Muge Calikoglu at UNC. She is Timmy's Genetist and the wife to Timmy's Endocrinologist. Nate will have a blood draw to test him for a mutation of the PAX-6 gene.

Physically, I'm up for the challenge of caring for another child with a visual impairment. Mentally and Emotionally, I'm still in shock and denial. I keep asking WHY this has happened yet again to our third son? Is there anything I could have done differently before and during my pregnancy to have prevented this from happeneing once again? Why did GOD choose Nate to have this affliction? I know the answer to these questions and all of the other questions, which keep popping into my head, but the questions along with the known answers keep cluttering my brain.

You are probably asking yourself, if I knew that Nate having a visual impairment was a possibility would I be so in shock and in denial? For nine months I hoped and prayed that he would be able to see. Following Nate's birth the Pediatrician gave Nate a clean bill of health from head to toe. We even asked specifically his opinion in regards to Nate's eye sight. Nate's Pediatrician's opinion was that Nate's eyes looked perfectly healthy. I was so releived. I thought that all of my prayers had been heard and answered. Nate would be able to see to run and play with his siblings and friends. He would be able to lay on a blanket outside at night and see to wish upon a falling star. He would be able to see the wonders of a rainbow following the rain. He would be able to see the true beauty of the colors in nature. To see the clouds in the sky on a clear sunny day and form pictures from these fluffy clouds in his mind. And in later years, possibly see the face of his newborn son or daughter. Now there is uncertainty as to whether Nate will be able to do any of these things.

 In the end I know soon enough I'll come around to reality and accept the fact that Nate is visually impaired. I'll wipe away the tears. Stop blaming myself for being so selfish in wanting another baby after knowing the odds of having a baby who would have a disability. I'll go on with my life, Loving, Caring and Protecting Nate, because these things won't change with his new diagnosis.

With all of my heart and soul, Mommy Loves you Muffin!!!!


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