I keep this blog for several reasons; to keep family up-to-date on our life, as a "memory book" for us, and sometimes to inform people in our lives of challenges our family is facing.
I assume most of you reading this have no idea what "22q11.2" means, and up until several weeks ago, neither did I. We've known for about a year now that Phoenix has some mild hearing loss in his right ear, but we just recently learned that Phoenix has a Cholesteatoma in that ear. (Click
HERE for more info). Basically, this was a benign growth in his middle ear that attached to and destroyed several bones. He recently had surgery to remove this and replace the destroyed bones. The hope is that he will have near perfect hearing after his healing is complete!
Anyway, back to "22q11.2". So, while visiting with the ENT, Dr. Hartzell, at Arkansas Children's Hospital, I mentioned that I had several concerns with Phoenix and the possibility of a "Mid-Line" Disorder. In the past, I had thought about visiting a Geneticist about my concerns, but we have always had more pressing issues and EVERY doctor I've ever mentioned my concerns to have basically brushed me off. Well, lo and behold, Dr. Hartzell works as part of a Cleft-Lip Palate Clinic once a week with several other doctors, including a Geneticist! At our last appointment we were able to meet with Dr. Schaefer, a Geneticist at ACH, what a blessing! He confirmed my suspicions that there was just cause to proceed with some genetic testing. We took bloodwork that day and expected to hear something within 4-6 weeks. On Friday, April 12, 2013, I received a call from Julie, the Genetic Counselor that works with Dr. Schaefer. She told me that Phoenix had a DUPLICATION on his 22nd chromosome. Dr. Schaefer suspected, after evaluating Phoenix, that he had a DELETION on his 22nd chromosome, so the DUPLICATION was a little surprising. What is even more interesting is that Phoenix actually has a DUPLICATION sandwiched inside another DUPLICATION. Specifically, Phoenix's DUPLICATIONs are found around "22q11.2", this is basically an address of his DUPLICATION. 22=22nd Chromosome, q=long arm of chromosome (each chromosome has a short arm (p) and a long arm (q), 11.2= specific location on the long arm.
Here are a list of issues that Phoenix has/had that are linked to his "22q" Disorder
- Hypospadias (repaired in Surgery 7/2010; Fistula repair 3/2011)
- Tied Tongue (clipped under anesthesia 11/2010 to improve Oral Motor Development)
- Highly Arched Palate (many children with this syndrome have a Cleft Lip and/or Palate)
- Kyphosis and Mild Scoliosis (corrected through Physical Therapy)
- Spina Bifida Occulta (discovered during x-ray in 2010)
- Frequent Ear Infections
- Ear Pit
- Hearing Loss
- Strabismus (eyes drift and do not align correctly, will eventually need surgery)
- Hypermobility/ Poor Muscle Tone (corrected through Corrective Foot Splints and PT)
- Developmental Delay
- Speech Delays/ Speech Apraxia
For more information on 22q11.2 Duplication, click
HERE
So, what all does this mean for Phoenix? Right now we will continue his Physical, Speech and Occupational Therapies. We are also looking into placing Phoenix in ACCESS Schools here in Little Rock. This would be a Pre-School set in a Therapeutic Environment where they would focus on his Language Development. Steve and I recently had blood drawn to undergo Genetic Testing, as this is a Hereditary Syndrome. In the near future, we will visit with a Cardiologist and Nephrologist to evaluate his heart and kidneys. This is because children with this disorder often have issues with these organs, so we want to check everything and get a baseline for future reference. Our goal will be what it is for any child, to keep him healthy and happy as he grows, and to help him face and overcome any obstacles he may face. After researching this syndrome, we realize how blessed we are. Phoenix will be able to live an active, "normal" life. He loves to run and play outside, ride his little four-wheeler, jump on the trampoline, go hunting with his Daddy, and make everyone laugh; having this diagnosis won't change any of that, but it will enable us to better understand Phoenix and give him the best possible care we can.
We appreciate your prayers as we navigate this with Phoenix; pray that Steve and I will make the best decisions for him, that he remains the healthy and vibrant little boy that he is, and pray that Phoenix will seek God's wisdom as he grows and makes his own decision related to his life and medical care.
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