Here you will find our most popular posts and also posts related to the topics people search the most to find our blog. I have also listed many resources for different aspects of our journey that may be helpful to others.
Our Most Popular Posts
If you are new to our site or would like to simply get to know us better, here are a few of our most popular posts to get you started. If you click a specific tag in the tag cloud at the footer of this page you can read more entries based on a specific topic. Thanks for stopping by and we hope you stick with us on this journey!
- A New Journey Begins
- The Gift of Speech
- Braxton Gets His Hearing Aids
- Who Flipped the Switch
- What’s WRONG with Him?
- Dad’s thoughts on Braxton
- Every Day, We Choose Joy
- This Blog on Our Lives – Dad’s Thoughts
- Siblings Have Special Needs Too
- He qualifies the called
Resources for Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome – The main page for RTS with more information about the syndrome and links to other families you can connect with.
The RTS Friends and Family Group on Facebook has also been a great resource and place of support for us. There are several Facebook groups open to families of children with Rubinstein-Taybi Syndrome. Simply perform a search for Rubinstein-Taybi Syndrome on Facebook, and you should see a list of groups come up. Here is the link for the Friends and Family Group – I share this one with you because it is the largest of all the groups. It is also closed so your posts will not be shared publicly with anyone outside of the group.
Here is our post written just after we received our diagnosis, A New Journey Begins.
This is an infographic I created with various facts about Rubinstein-Taybi Syndrome. You can download the PDF version here: RTS Infographic
Here is the Infographic translated in Italian: RTS Infographic – Italian
(I am willing to create one in other languages if you would like to translate! Feel free to contact me.)
Posts and Resources for Blenderized Diet
Here are just a few resources I found to be very helpful when starting out with BD:
- Blenderized Food for Tubies – They have a fb group and website with a searchable forum. Lots of getting started tips and recipes from other parents.
- Feeding Tube Awareness– All things tubie! They have a page of links and info on getting started as well
- You Start With a Tube – A man WITH a feeding tube started this site and has a book “Complete Tubefeeding” Which is another great resource
- Mealtime Notions – “Homemade Blended Formula Handbook” Everything you need to know about homemade formula
Our posts on our experience with Blenderized Diet:
Also, here is the Google Doc Spreadsheet from our first trials with all the nutritional data and recipes I used when we started out.
Resources for Pediatric Hearing Aids
This is definitely a popular topic that brings traffic to our blog. Braxton has bilateral (meaning both ears) mild to moderate mixed hearing loss. He currently uses the Phonak Nios S H2O – Here is a detailed post we wrote regarding use and care of his hearing aids. Braxton’s Hearing Aids
If you do get hearing aids for your child, I highly recommend purchasing Ear Gear. These are protective sleeves for hearing aids that protect against sweat, dirt, and moisture. They are also helpful in preventing loss as they are corded to help keep the hearing aids together.
Resources for the Undiagnosed
We spent a long time without a diagnosis, and the undiagnosed community will always have a special place in our heart. If you are searching for a diagnosis, these are excellent resources.
U.R. Our Hope – a nonprofit organization that helps families in search of a diagnosis or assists those with a rare diagnosis in navigating the healthcare system.
S.W.A.N – Syndrome Without A Name – Another organization who helps those in need of a diagnosis connect with other families and resources to find a diagnoses.
National Institutes of Health – The NIH has an Undiagnosed Disease research program which invites individuals to their research facility to perform all necessary testing to help find a diagnosis. Testing and travel is provided FREE of charge to the family IF the child is accepted in to the program.
In Need of Diagnosis – Another avenue of resources in the search for a diagnosis
Information on Genetic Testing
In our first 2 years, we went through many different genetic tests. Here are the tests we are familiar with and can help answer questions you might have regarding any of them.
- FISH – A FISH is just what it sounds like. If a doctor is suspicious of a particular syndrome, a test can be performed to FISH for that specific chromosomal abnormality. For us, in NICU the doctors performed a FISH for chromosomes 13, 18, and 21 because they suspected Braxton had an abnormality associated with those. The tests all came back ‘normal.’
- Microarray – This test was ordered by our geneticist and is a more detailed look into additions and deletions of chromosomes. Our microarray also came back normal. Here is more information from the National Institutes of Health.
- Specific Gene Test – If a doctor suspects an issue with a certain gene or group of genes he/she can order a test specifically for that particular gene. Or if there is a specific syndrome the child presents multiple symptoms for and we know exactly what gene causes that syndrome, this type of test can be performed. We had 2 specific gene test performed at the same time. Our doctor suspected one of 2 syndromes and requested that Braxton be tested for both. These also came back ‘normal’ and showed no variance within the genes tested. The problem with these kinds of tests is that they are very expensive and still can take weeks to receive results.
- Whole Exome Sequencing – This particular test is quickly becoming the industry standard and more and more insurance companies are picking up the costs. WES looks at approximately 5,000 genes that scientists can identify the function of and what a variance would indicate. Since this test is so detailed, the results can take anywhere from 4 – 7 months. For us, this is the test that finally gave us a diagnosis and we received results in 4 months. I know of many families who waited much longer, so if you have had it done, just hang in there! I know the waiting is the most difficult part, but it’s worth it! Another tip if your geneticist is considering this test, you may want to wait until you have met your annual deductible and/or your out of pocket maximum for the year. Our test was done in December when both of those applied so we did not have any out of pocket expense. We also have a secondary insurance which helps with costs. More info on WES. And our post on the topic.
- Whole Genome Sequencing – WGS actually tests all 22,000 genes in the body even though we may not understand what a particular variance would mean. From my understanding, this test is NOT clinically available. There are many ethical dilemmas surrounding WGS and the information that is provided, so until doctors and researchers understand how to handle the information, this is not a test that can be ordered or that insurance would cover. For more info, click here.
Regardless of what test or insurance company you have, you more than likely NEED to have a pre-authorization for genetic testing, so be sure your doctor’s office obtains this PRIOR to drawing your child’s blood so that you are not left with a bill. Your doctor’s office absolutely has to let you know your out of pocket expense prior to testing. Many of these tests are VERY expensive and it’s not fair to be left in the dark.
Resources for Parents
Texas Parent to Parent – This is an EXCELLENT resource for parents of special needs children to connect with other parents who know exactly what you are going through. There is an extensive database of doctors, childcare facilities, nursing, home health and much more. Parent to Parent is a nationwide organization, this is the Texas site. There are links there for other states/regions.
Mommies of Miracles – Mommies of Miracles is an amazing wealth of information for mothers of children with special needs. Their website has pages of resources for every type of medical need you are searching for. There are examples of care pages and steps on how to create a care notebook for your child. Their Facebook page is extremely active and you can ask questions, connect with other moms, and seek out information about doctors or treatments. They also have closed facebook groups so you can connect privately with other moms. This virtual support has been essential to me when a face-to-face support group was not available, or I simply wasn’t ready to meet anyone. I ‘lurked’ on the page often and sought out advice that way until I was comfortable enough to share my story.
iPads and Devices for Children
Bridging Apps – This is a fantastic resource for using Alternative and Augmentative Communication (AAC) with children with speech delays. They have an extensive database of communication apps and other educational apps complete with reviews and what skills particular apps are helpful with. Their website has many resources for parents, teachers, app developers, and adults with disabilities. Technology for people with disabilities has come a long way and can truly enrich lives when used appropriately. If you are local to Houston, Austin, or Rio Grande Valley in Texas, there are local workshops to help you get started with iPads for children with special needs or to learn to use various apps and tools on the Bridging Apps website.
Everyone always asks about the cute little “dog” in all his pictures. It’s a Wubbanub pacifier. The stuffed animal is attached to the pacifier. At first we used it to help keep the paci in place since his suck wasn’t strong enough, but now it’s his ‘lovie’ and we can’t go anywhere without it.
Most of the specialist we see are part of Specially For Children here in Austin, TX. If you are in need of a specialist, you can check them out here and hopefully they help you in the same way they’ve helped us! Specially for Children.