We had three appointments last Thursday, December 20th at Primary Children’s Hospital. We met with Dr. Alan Rope, Maddie’s geneticist, Dr. Parks, her ENT, a speech pathologist, and her Opthamologist. Being as confused as we are about all the different things that the doctors are telling us I thought it would be great to include a little Genetics 101 with this update.
So as a quick update for those of you that are limited in time, Maddie is doing really well. We have yet to determine why she has fluid in her ears and if that fluid is causing the variable hearing lose. Maddie’s ENT (ear, nose, throat doctor) at Primary Children’s hospital recommended that we move forward with tubes again for Maddie to help clear out the fluid in her ears and also help the audiologist determine if it is the fluid that is causing the variable hearing that Maddie is experiencing. We are scheduling her surgery for tubes sometime in late January or early February. We will also do a scope to check her vocal cords (she had partial paralysis of her left vocal cord that the ENT wants to check). While she is under sedation we will also do an ABR test (Auditory Brainstem Response test). She has had an ABR test the last time she had tubes and that test showed a substantial hearing lose.
Maddie’s opthamologist said that she is making great progress with her eyes. We have been putting a patch over her left eye to force her right eye to gain strength. Maddie has done a great job wearing a patch for up to 8 hours every day for the last couple of months. Because she has responded so well we will not need surgery to realign her eyes and the doctor has said that she can now go down to wearing the patch for only one hour a day. Way to go Maddie and way to go Carrie for such great news!
The speech pathologist at Primary Children’s Hospital has recommended more speech therapy then what Maddie is currently getting in her preschool. So we will move forward over the next 6 months with either adapting her IEP (Individual Education Plan) or looking for speech therapy outside the school district. We hope that this will help her continue to progress with her speech! Maddie is doing such a great job and can so many wonderful things! It is great to hear her voice and listen to everything she has to tell us.
Now time for a quick update on Genetics… Genetics 101
Maddie has a duplication of the Q arm of Chromosome Three. The medical terminology is Partial Trisomy 3q.The exact location of her chromosomal duplication is a partial duplication on 3q26.1, 3q26.2 & 3q26.3.
Here is the exact quote from a portion of her medical report:
Characterization of DNA from this patient was done using an experimental procedure, genomic microarray. Genomic microarray analysis using the Spectral Genomics 1 Mb Chip (SC2600-33) array platform indicated that there was a duplication on chromosome 3 (8 BAC clones duplicated) involving clones within the 3q26 band, suggesting partial trisomy for this region of chromosome 3. Flanking clones located within 3q26, RP11-91B7 and RP11-91K9, were not duplicated, thereby establishing the approximate size of this duplication at 9.2 to 9.8 Mb, based on the March 2006 assembly of the UCSC human genome database and the Database of Genomic Variants (The Center for Applied Genomics).
The way it has been explained to us by Dr. Rope is that the q arm (which is the long one) has a section that is duplicated (probably a couple million pairs of DNA were duplicated). This duplication is what has caused many of the different medical issues that Madalynn has dealt with over the years.
Chomosome 3 has over 200 million base pairs of DNA and contains between 1100 – 1500 genes. For more general information on chromosome 3 and disorders and diseases linked to Chromosome 3 visit the Chromosome 3 page on wikipedia.
Coming soon… Christmas at the Jones 2007 edition!
Geoff’s sister Kristin does speech therapy & has a Masters in it. She’s in South Jordan school district, we can ask her if she knows any good therapists if you’d like? And she might have good exercises etc?
Carrie way to go you’re such a good mom! and Maddie is a little soldier she’s awesome. Maybe you guys should try inserting frog DNA i saw it done in jurrasic park. the only problem you’ll have is if maddie breaks out of her electrified cage then she’ll eat everyone in your house. knowing maddie she’ll then sign what she did and do a little dance!!! peace out Lymanuniverse rules!!!!
Wow! Thanks for the information, it’s exciteing to hear about the progress. You guys are great parents and Maddie is blessed to have you two.
Hi Lyman’s!
I thought you might be interested to read this article from the NY Times published Friday Dec. 28th, 2007.
http://www.nytimes.com/2007/12/28/health/research/28dna.html
Alan
Hi Lyman’s,
My daughter Brittany see’s Dr Rope. I just wanted to tell you what has really helped her speech. We bought her a cell phone. It is her favorite. She has never lost it and it encourages her to talk better so we can understand her. I really believe it has made a big difference with her speech.
Good luck, Debi Oh ya and it is PURPLE! (Her favorite)
Debi,
Thanks for you thoughts. Madalynn also has a cellphone. Her most favorite thing is a CD player. She swaps out CDs all the times and loves listening to music by herself in her room. She also loves Signing Time DVDs and uses Sign Language to communicate.