Wednesday, October 26, 2011

Meet the Mann Family

I would like to introduce you to our newest American family to our group - Lynn and her family.  Lynn found us in the spring of this year, and she has an amazing story.  Lynn's children, on top of two of the three having RDH12 gene affected LCA, also had a hard start in life.  Now they are doing amazingly well, no doubt to this super momma. 
We are so grateful to have the Mann family with us on this journey.  They live in Arizona and we hope that one day we can convince them to come this way so that we can all meet in person!

Here is their story:
My husband, Joe, and I have 3 children and 2 of them have LCA.  Aiden is going to be 8 next month, Caleb is 5, and Gabby is 2.  My husband and I have been married for 10 years and he is a military bomb tech.  Aiden had a rough start right from the beginning.  He was put into the neonatal intensive care unit right after delivery and stayed there for 2 1/2 weeks.  He was 6lbs 12oz and born on 11-30-03.  Once we got Aiden home I sensed something was wrong from the start.  He just wasn't acting like a typical newborn.  The doctors thought it was just from the traumatic birth.  Finally when his nystagmus started at 4-6 months they sent us to specialist.  The doctors didn't tell us a whole lot in the beginning.  Finally after the retinal specialist and neurologist got together they composed a list of 5 possible diseases it could be.  LCA was on the list.  In fact it was the only one that wasn't terminal.  They dismissed it because they felt like Aiden's condition was too advanced for his age.  He already had lesions and a bulls eye maculopathy.  He has pale optic nerves.  After hearing that they thought Aiden was terminally I flew him from Az to Philadelphia to try to get some answers.  Even Dr.  Grant Lui from CHOP told us that he was terminal and had something called Batten's Disease.  We went on believing this for 3 years.  He had several hospital admissions and a feeding tube placed.  During that time we got the Air Force to move us to the East Coast to be with the best doctors and family.  Finally Dr. Eric Pierce  had noticed that Aiden's development had progressed so much and wanted to do more testing.  He was the one who sent out the lab work for LCA.  I few months later Joe and I were asked for a blood sample.  A month after that it was confirmed that Aiden has the RDH12 defect.  We had a huge party to celebrate.  At that time we also tested Caleb who had just been born.  We feared the worse because he had the same issues at birth and was only 5lb6oz.  Fortunately, he was negative for it.  During this Aiden started out in PT, speech, and OT.  He also had a vision teacher come once a month and O&M once he started walking.  When he turned 3 Aiden went into the school system.  The first major battle was getting them to teach Aiden braille. We ended up having to get him evaluated by a doctor of their choosing to prove that his vision was that poor.  Once we did that I received an apology for the trouble they put us through and the delay.  Aiden soaked up braille like a sponge. 
Over the following 2 years we moved several times and received varying services from different places.  Once we got settled in Tucson and Aiden started kinder we demanded he have a one on one aide.  I said it was either that or send him to the school for the blind.  We really lucked out with an AMAZING aide.  He also has a TVI come in for 2 hours everyday.  She has done amazing work with Aiden.  He is currently reading and writing short stories in braille and is in 2nd grade.  Aiden went from being behind to now testing for the gifted program.  I was hesitant at first but after some convincing I agreed.  His self help and life skills are still lacking.  He uses a cane and has O&M once a week. 
Aiden's interests are all things related to rocket shuttles and space.  He loves going to space museums and knows more about space then any adults that I know.  He's also interested in tunnels and bridges.  He always ask how tall/far/wide/long and so on.  His questions never stop.  He's very talkative.  My husband on occasion will bring Aiden out to an abandoned flight line to ride his bike.  I'm always a nervous wreck when they go but he hasn't had any more then minor cuts so far.  Some things Aiden doesn't like are any kind of digital lights like in alarm clocks and trying new foods.  He will be starting feeding therapy next month.  He still has his feeding tube.  He's hasn't had an exam recently, but needs new glasses so I will be scheduling him ASAP.  His acuity in 20/900 and his visual field is down to 5% in one eye and no recordable vision in the other, just some light perception.  If some thing is within his little window he can see it pretty well, but his window is very small. 
 Gabby's experience with LCA has been quite different.  I decided to test in utero for RDH12.  It was a complicated process but it worked out.  I'm glad that we had time to cope before her arrival.  It was hard getting the diagnosis for the second time, but once she got here most negative thoughts went away.  She was born at 5lb 4oz on 5-4-09 with no major issues.   He first retinal exam was at 6 weeks and was completely normal.  Her first year was very typical.  She had some developmental delays, but after raising Aiden around therapists and docs we took a break from all of that and worked on things at home.  Her muscle tone is much better then Aiden's.  At 1 yr. her retinas did start to show minor changes.  I didn't see any visual issues until her 2nd birthday in May.  Her depth perception has been off since then and mobility is becoming more difficult.  Her exam was a month ago and has gone through pretty big changes.  Her retinas have a "salt and pepper" look.  The strange thing is that her eyes don't look anything like Aiden's.  Her optic nerves are also too small.  About a year ago Gabby was diagnosed with seizures and was put on medications.  She's been hospitalized 3 times because of it.  Once that started to happen we plugged back in with the doctors and therapists.
 Currently she is getting OT, speech and feeding therapy.  The TVI was a no show on Gabby's functional visual assessment and I haven't heard from her since.  I'm very interested in what her results will be.  She is very light sensitive and is starting to tilt her head a lot.  Gabby does have tinted glasses that she wears on occasion.  She needs an updated prescription and I am waiting to hear from the Lions Club to see if they will help with that.  She also has a severe astigmatism.  Since she does have quite a bit of usable vision so I think glasses help when she keeps them on.  Overall, Gabby has handled everything very well.  She can be fearful in crowded and new places.  She has a hard time with my husband being away a lot, but as she gets older and can understand more I hope that will get better.  Gabby loves animals and blocks.  She is starting to like baby dolls, too.
 So there you have it.  Another reason we fight so hard.  Gabby is our youngest child with RDH12 in our group right now.  We hope that Abby will never have to learn braille, never have to use a cane, and know how hard her momma and the RDH12 Fund for Sight fought. 

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