First off let me start off by saying how amazing the conference was for our family and many others. We went into it thinking we would only meet new families and not learn near as much as we did because we thought through the internet and our doctors that we would probably have “heard it all” already which was INCORRECT! We returned home with near 30 pages of notes with new information that we would probably have never heard if we had not attended the NOAH conference. We greatly urge if you can afford to attend to do so in person because these “clift notes” versions and even the slide shows that NOAH is releasing on their website from a few of the sessions do not do it all justice. I would not trade the valuable experience, the knowledge we received, and the families and individuals we met that will forever be part of our second family, for a clift notes version. That being said I realize that not everyone can afford to go (a problem we are hoping we can one day solve with some upcoming charity events and new nonprofits in the works ) so I tried to visit as many of the sessions as possible so I could get some valuable notes for those who could not attend this year.
The sessions ran sometimes 4-6 at the same time so we had to divide up and still could not attend them all. (Most of the ones we attended were geared towards toddlers or general issues any parent could relate with.) After the first initial “general session”—for everyone to attend together—which was called “Latest Research in Albinism” we moved on to a smaller group, our first session called “Ask the Doctors” for parents.
The panel of doctors consisted of: C. Gail Summers M.D., Murray Brilliant Ph. D., David Adams M.D., Ph.D., Rick Thompson O.D., FAAO, Donna Appell, RN.
Everyone was given a note card to submit questions or could raise their hand for questions as well. Here are my notes from the session.
*It is possible that Nystagmus is caused by low density of cones in the fovea. Not yet confirmed.
*No difference in treatment of albinism unless patient has Hermansky-Pudlak Syndrome (HPS). HPS needs to be ruled out if ever a child presents with albinism but has had genetic testing and no gene is found for albinism because HPS is not detected in most normal genetic tests and can be harmful to health if not followed closely. (I actually asked this question for a friend and had asked “if no gene for albinism is found but the child is diagnosed with albinism what does this mean and what can they do next?”) They also stated that as long as HPS is then tested for and ruled out then the patient does not need to do anything further because the gene just may have not been found yet or have been difficult to find in small tests that were performed. (aka to test it all would cost the facility to much money so they test on a smaller scale—so their “scope” was possibly not wide enough.) 75-80% of changes are seen in the normal genetic testing but the rest is not.
*Two partners with different types of albinism (ex: OCA1 and OCA2) then cannot have a child with albinism. Their children would be carriers but never have albinism. (I had never heard this before! Was very shocked!)
*For a child to present signs of albinism (as far as they know) BOTH parents have to carry a gene. Even if it is only found in one parent it is probable that it is in a different gene that was not identified or found in the genetics testing.
*Do colored contacts help? The tinted ones can reduce glare if entire lens is tinted. 15-20% of vision loss is due to glare. 15-20% is due to Nystagmus and the rest is due to the cone loss which this will not help.
*Treatment for Nystagmus? There are three types of surgery. One operates on the vertical muscles, one on the horizontal, and one on all the muscles around the eye. The vertical muscle surgery is for when the head turn is up or down to fix the null point. The horizontal surgery is for when the head tilt is turned to one side usually the right side. They do not know if doing the surgery is best when older or younger, they did say child must have a true null point found before the surgery is done because it would be harder to correct later if the null point was incorrect at the time of the first surgery. (Sometimes people will think the child’s null point is up or down but really they are trying to look over or under their glasses) There are some high risk complications with doing two surgeries so it is best to wait until a true null point is found which they said does not usually appear until the child is actively studying books or small print materials.
*Kids cannot see their own eyes move with Nystagmus in a mirror or such, only way they will see their own eyes move is with a recorded video played back to them.
*Studies show that even though individuals typically prefer one eye over the other when using their magnification tools, neither eye is actually clinically better than the other at sight. Think of it as this: both of your arms and hands are equally strong but you prefer one to write with etc.
*People with Albinism often need two different prescriptions in glasses/contacts if used—one for close up reading and the other for day to day tasks.
*Ariel print is better than Times New Roman because there are no seraphs in the font.(To see the difference compare the H in each type font on your computer.)
*Changing polarity can help when reading—instead of black font on white background do white font on black background.
*Autism and OCA—as of yet there have been no formal studies to see if there is actually an increased rate of Autism in OCA. Remember that individuals with low vision always test on the autism spectrum incorrectly most times due to their other senses being heightened. Studies have however showed that ADHD is at an increased rate in kids with albinism. Fatigue may explain this more than some medical things. It is possible though that a child testing on the autism spectrum with albinism IS actually autistic but more likely that they test needs to be redone by someone who is a specialist in Albinism and Low vision to see if their findings are more along the lines of typical behavior with vision loss and albinism rather than autism. A lot of the areas where the child falls on the autism spectrum can usually be explained by their low vision. USE A SPECIALIST in low vision. No medical link though as of yet.
*Sensory Integration –will always be higher due to low vision.
*Research in tyrosinase therapy shows it is good for OCA1 only. Re-growing small amounts of pigment, and early intervention before age 2 years is key. (Hopefully I got the spelling of that right!)
*Does adding Levadopa to patching of the good eye help with lazy eye improvement?
Studies are not 100% yet—possibly in next few years will know. Patching has worked in general to help the lazy eye by covering the good eye with a patch. Visual acuity raised with Levadopa during patching did stay up after the Rx was dropped/use was stopped. In test individuals some side effects of tantrums and motor issues were reported that could possibly be related but not yet proven.
*What’s the value of the VEP test? It picks up extra crossing of nerves to opposite side of brain but does not factor/calculate visual acuity. It is handy to diagnose/confirm albinism in patients.
*Should you see a low vision pediatric ophthalmologist as well? Never hurts to do this, second opinion is always good. They are hard to find because they are very rare.
*Tech devices for magnification and such are best to begin early on before the child get to be 5-6 years old. They may reject one device early on and then come back to it later so keep trying.