Tag Archives: struggles

Rare Disease Day 2014

Today is the 6th annual Rare Disease Day, which is a day to bring awareness for all rare diseases/conditions.  The theme for this year is “Join Together for Better Care” and I cannot think of a more fitting goal this year.  The more people we can get to come together and be aware of different conditions, the better we will be able to serve individuals through medical care and funding for research.

NORD-Who-Does-Rare-Disease-Affect_DRAFT-2.19.14-e1393025442778In the United States, 30 million Americans have a rare disease.  This breaks down to 1 in 10 Americans, so chances are, someone in your life is struggling with a little known condition. Almost 2/3 of those affected are children.  (Source: NORD)

While the conditions may vary, the experiences for those with rare diseases is very similar for all who are affected.  Imagine going to the doctor and having to explain everything a doctor SHOULD know just so they can treat your child for an illness or operate on your child safely.  This is a reality parents of children with rare disease face day-in and day-out.

When we go to the doctor and I tell them that Braxton has Rubinstein-Taybi Syndrome, the usual response from medical professionals is something like, “It probably won’t surprise you that I don’t know what that is.”  And when Braxton has surgery, I have to educate the anesthesiologist and the nurses about the possible complications Braxton could face while under anesthesia.  It is sad that we live in a society where parents are more educated about conditions than the very doctors they trust with their children. We have made so many advancements in technology, but it is impossible for medical professionals to keep up. Because many people don’t know about RTS, I can’t simply choose another doctor who is familiar with the condition.   With over 7,000 rare diseases, it’s no wonder that doctors are unable to keep up.  They only learn about conditions as they come in contact with them through their patients.

But, we can all help this situation.  As YOU learn about rare diseases, YOU can help spread that knowledge.  Carry some facts with you and when you have the opportunity to share the information, do it! It’s true that simply changing your profile picture does nothing for Braxton’s immediate care, but when you change your picture and provide information about his condition, then you are teaching others and that does help us.  When you share our story, like our photos, comment on our Facebook page, that reaches others and at least exposes them to RTS.  The more people who know about RTS and other rare conditions the more likely it is these patients can find quality care and money to fund research opportunities.  Money is what is standing in the way of finding cures for children who face life threatening illnesses.  Braxton’s condition isn’t terminal, but there are countless children who are fighting big battles just hoping for cures.  Rare Disease Day provides an opportunity for these conditions to be known and hopefully find people to support them.

Rare Disease Day is an opportunity for awareness.  Why does awareness matter? Take a look at this graphic from Siren Interactive about the diagnostic journey.  Did you know that on average, it takes 7 years for a proper diagnosis of a rare disease? SEVEN YEARS!

Click to view the full graphic

Click to view the full graphic

Awareness matters for those who are just waiting for answers.  There are children with Braxton’s condition who were diagnosed at birth or shortly after, and then there are some who weren’t diagnosed until years later.  If more people knew about RTS, these children would be diagnosed right away and the proper medical care could begin immediately.  We could have known from the beginning and I wouldn’t have had so many sleepless night wondering if Braxton was going to live.  This is why awareness matters.  If we knew early on I could have plugged in to all the resources I now have.

Global Genes GraphicWe have to find a way to speed up the diagnostic process.  Many children without a diagnosis die before their 5th birthday, so waiting the average 7 years for a diagnosis is unacceptable.  What’s worse is finding out your child died from a disease that had treatments available and they could have been saved if a diagnosis had been made earlier.  That is just heartbreaking! WE have to do better. WE have to come together for all the children and families searching for answers and cures.  We can all make a difference.

Make the effort to learn about a rare disease today.  If you participate in the “Wear that You Care” campaign today and wear jeans, make sure you tell people who and why you are wearing jeans.  Take that chance to educate, because if even one more person knows about Rubinstein-Taybi syndrome, that is a success for us.  It would be nice to meet someone and not have to explain my child’s condition, I just want them to say, “hey, I’ve heard of that!”

Spread the word and celebrate Rare Disease Day!

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The First Year

After Braxton was born he had a tough time breastfeeding.  At first I thought I was doing something wrong, later we’d learn that he had a poor suck-swallow-breathe reflex which prevented him from being able to breast or bottle feed.  The nurses took him from us and tried to bottle feed him multiple times, but he just refused and would gasp and cough each time they tried to feed him. As a result, Braxton had persistent low blood sugar (hypoglycemia) and he was kept in the nursery.  They brought him to me a couple times to try and feed, but in total I probably saw my son for about 15 minutes that first day.  After a few failed attempts at breast/bottle feeding the doctor came in and forever changed our lives.

The doctor told us that Braxton was having trouble feeding and therefore was hypoglycemic and they were concerned of aspiration (fluid going in to his lungs) because of all the coughing and gasping when he tried to feed.  She also told us they had realized he had a significant heart murmur.  In addition, he had several traits that on their own are no reason for alarm, but since they were all present at the same time, that it was a pretty good indicator of some kind of genetic syndrome.  The concerning traits included: Small head, small deep set eyes, flat nasal bridge, thin philtrum, small jaw, low set ears, short neck, bilateral syndactyly [webbing of pinky and ring finger on both hands], single palmar crease, crossed toes, high muscle tone and the murmur.  Because of all of this they felt it would be best for Braxton to be transferred to the Neonatal Intensive Care Unit (NICU) at another hospital. I didn’t find out until later, that this particular doctor was concerned that Braxton WOULD NOT LIVE more than a couple weeks at most and therefore the transfer was necessary.  At 9:00 pm my son was taken from me and transported to another hospital while I had to stay while recovering from my C-Section.

The next few days were kind of a blur.  Joseph (dad), followed the ambulance to St. David’s Main Hospital to get Braxton admitted.  He would undergo several tests throughout the night and the next morning.  Determined to get out and see my son I was walking around the next morning and released that evening, a couple days earlier than my dr would have liked.  Once I arrived at the NICU, we learned that Braxton was placed on IV fluids since he was not eating on his own, a nasal feeding tube ws inserted for feedings, he underwent an EKG to look at his heart, an EEG because they thought he had a seizure during transport, and a head ultrasound.  The EKG revealed that he did NOT have a heart murmur, but he did have a bicuspid aortic valve and a dilated aortic root. The EKG was read as normal with no seizure activity. The head ultrasound revealed a mild bleeding in the brain, but the doctors were not concerned and said this would resolve on its own.

We learned that they would want to draw blood and send off for genetic testing.  All chromosomes would be tested, but the doctors but a rush to test for Trisomy 13, 18 and 21.  Trisomy 13 is Patau Syndrome – 80% of children with this syndrome die within the first year.  Trisomy 18 is Edwards Syndrome – Half of infants with this syndrome do not live beyond the first week of life. Trisomy 21 is Down syndrome, which thankfully is something I could have dealt with.  But, as you can see the outlook on Brax’s life was grim.  Results for all three came back and ruled out Trisomy 13, 18 and 21.  Later, the rest of the genetic results came and and they told us everything was “normal” with no additions/deletions to chromosomes, and no abnormalities with his X and Y chromosome.  Relief right?! No.  The doctors are still convinced he has a syndrome and tell us we will need to see a geneticist for further lab workup.

A retina specialist came in doing routine checkups on all the NICU babies and examined Braxton.  His exam revealed that Braxton had a bilateral coloboma.  A coloboma is a hole in one of the structures of they eye, such as the iris or retina, where it just didn’t close up correctly.  The specialist said it didn’t seem like Brax would need surgery, nor would he be blind.  He said at most there would be a blank spot in the field of vision, but the brain would compensate and fill in the gap so Brax should be able to see normally.  Unfortunately, we would not be able to really know the full extent of Braxton’s vision until he himself could tell us what he could and couldn’t see. Great, more uncertainty.

As days passed, Braxton started doing well.  He was able to regulate his own body temperature, so he was taken off the infant warmer.  He had a bout with Jaundice, but that resolved will with normal phototherapy.  I was pumping breastmilk for him and he was getting that through the N-G tube.  He finally overcame the low blood sugars and the IV was taken out.  Once he was off the IV fluids, he was gaining weight well, regulating his own body temperature, and maintained a normal blood sugar level, we were told we were waiting on feeding to be able to release him home.

A speech team was brought in to work with Braxton on feeding, but after multiple trials it was deemed that he could not and would not be able to feed on his own for quite some time.  A Swallow Study revealed evidence of aspiration and therefore feeding him by mouth was actually dangerous to his health as it could lead to pneumonia if too much fluid got into his lungs, which of course would be another cause of death for him.  Ultimately, it was decided that Braxton would need a G-Tube for feedings and would probably need it for quite some time, years possibly.  Since feeding was the only thing still keeping him in the hospital, the doctors decided it would be best to go ahead and insert the G-Tube so Braxton could go home and continue Speech Therapy there.

Braxton made it through the surgery to have the G-Tube inserted just fine. He did not have a nissen fundoplication.  He stayed an extra week so the staff could keep an eye on it and make sure the area healed well.  At the end of the week we were finally released.  Braxton’s total NICU stay was just over 3 weeks.  We were sent home with instructions to care for the G-Tube, but also with a number of follow-up Doctor appointments and therapy services.  Definitely only the beginning.

Summary of the Year

I could go into great detail about each and every doctor’s visit, but I’ll just summarize what we’ve learned so far.

We were released with Home Health Services to come in and check on Braxton at home to make sure he was gaining weight appropriately since he was on a feeding tube, so feeding amount had to be manually adjusted and he could not gain weight if we weren’t feeding him enough.  They also continued to monitor the G-Tube site to make sure to teach us how to keep the area clean and proper use.  Home Health was only with us a few weeks, before they decided he was in good hands and they didn’t need to keep coming.

We were also released with a  prescription to start Physical and Speech Therapy.  We started both of those within a month of Braxton being home.  We are currently at twice a week visits from both and Braxton is doing amazing! With Speech therapy, we continued trials of bottle feeding at home.  Once our therapist noted that his suck reflex was much stronger and there was significantly a lesser amount of coughing and gagging with feedings she had us go and get another Swallow Study to again check for the risk of aspiration before we moved forward with bottle feedings.  On September 1, 2011 the MBSS revealed NO aspiration across all consistencies. Yay! We were able to start direct breastfeeding and bottle feeding.  Unfortunately, Brax did not do well with breastfeeding.  The flow was just too much for him to handle, so I had to just continue pumping and offering the bottle.  Over time, Braxton has gotten up to being able to take 3-4 ounces by mouth before he gets tired and can’t eat anymore.  We offer him the bottle first and whatever he doesn’t eat we then put through his g-tube.  He’s currently doing really well and if we can work up to him taking full feeds by mouth hopefully the G-Tube will come out!  🙂

With Physical Therapy, Braxton just continues to improve.  He is now significantly less hypertonic than he was at birth.  He still has some areas of high muscle tone, but doing well with that.  He finally sat on his own with no support at 12 months.  He’s up on all fours rocking and trying so hard to crawl. So far, he’s only scooting backwards (which of course, is developmentally on track), but he’s determined to get it right soon!  He can bear weight on his feet so not any real concern about him being unable to walk right now.  Very mild scoliosis, but there is nothing we can do about it right now.

We also just started Occupational Therapy to help with some of the fine motor skills like grasping, feeding, and dressing on his own.  We’ve only had a few visits with her so not a whole lot to report here…yet!

After our initial visit with an ophthalmologist, Vision Therapy was also recommended.  She helps us with ways to get Braxton to respond to visual stimulus and ideas on how to get him to focus better.  Since we don’t really know the extent of the coloboma, she helps us make sure we are optimizing his field of vision early.  The ophthalmologist reports that the coloboma does not affect his optic nerve, so there should be no significant vision problems in his future, but it’s really difficult to tell at this point.  He also suffers from a clogged tear duct.  Probing and Irrigation surgery was tried on April 6, 2012, but the ophthalmologist found at that even his tear ducts are abnormal.  The upper ducts are either missing or were too small to find, and his lower ducts are very small.  Even the smallest prob was difficult to fit.  We have to wait until he gets older to see if the clogged duct resolves on its own or if inserting tubes/further surgery might be necessary.

Our Cardiologist continues to confirm the bicuspid aortic valve and dilated aortic root.  He’s following Braxton closely, but right now we aren’t concerned with surgery or anything like that.  He says that considering the heart defect, Brax’s heart is working “normally” so no need for concern right now.  The dilated aortic root is still enlarged, but it is growing with Brax proportionately so there is no alarm there either.  We see him every 6 months.

Braxton has also suffered from persistent ear infections.  His Ear, Nose and Throat (ENT) placed PEG tubes in his ears April 6, 2012.  He hasn’t had any since…thank goodness! Ear pain is the WORST for kids.  At Brax’s first visit an in-office hearing test showed concern of hearing loss since Braxton did not respond to any of the sounds.  He had an ABR after the PEG tubes were placed, but there was so much fluid draining the results were somewhat skewed. Initially they showed a significant hearing loss.  The ABR was repeated about a month later and while the results were much better, they still showed mixed hearing loss and so he was labeled as having mild to moderate bilateral mixed hearing loss.  We are still waiting to get hearing aids to hopefully bring him up to normal hearing and therefore finally getting some meaningful speech out of him. Can’t wait!

We just saw an Endocrinologist to check out growth hormones and make sure there are no abnormalities there.  We are waiting to do blood work to see if everything is in order or if there is something further that needs to be done.

Our Gastroenterologist (GI) is following closely to monitor the amount of fluid Braxton needs. At first, Braxton was gaining way too quickly so he helped us adjust feeds to keep Brax on a better growth curve.  He’s currently gaining along the 75th percentile.  We’re still only giving him pureed foods, but since he isn’t getting enough nutrients from that GI has him on Pediasure for all his nutritional needs.  Braxton does not have any signs of reflux or anything.

There is also a Hand Surgeon monitoring the Bilateral Syndactyly.  Thankfully, the webbing of his fingers seems to be easy to correct with surgery.  We are actually having that surgery August 24, 2012, we’ll keep you updated with that!

The Geneticist is still at a loss as to what Braxton’s specific syndrome could be.  We had a microarray genetic test done and that also came back normal showing no additions/deletions to chromosomes.  We will have further testing done later, but for now it’s mostly just wait and see what develops.

Finally, the neurologist is also following us pretty close to monitor developmental delay.  Braxton had a brain MRI in September 2011 which showed that he has a dysplastic corpus callosum.  The corpus callosum is the center part of the brain which sends communication to both hemispheres of the brain.  Dysplasia means that it is thinner than normal.  This could lead to learning delays later, and is also probably why he has the coloboma since it is a midline disorder.  The neurologist says that Braxton seems to be maybe 3-4 months behind developmentally at this point.  The good news is that everyone who needs to be involved therapy wise is already involved and obviously helping him quite a bit.

He also continues to follow-up with his normal pediatrician for routine care and immunizations.

Whew! I think I got everything and everyone.  Sure is a lot that Braxton has been through and continues to go through.  The one thing that makes everything tolerable, is that Braxton is such a happy baby! He is always smiling and laughing.  He very rarely fusses or cries too much.  With everything he’s been through it sure is a surprise that he’s not always a grump.  He is continuing to grow and flourish.  Needless to say, that initial grim prognosis of Braxton not living more than a few weeks has been thrown out the window.  He just had his first birthday and is making significant strides in trying to become mobile.

 

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