So much has happened since I last posted on here.
We moved to North Carolina in December and we absolutely love it here. The girls have a lot more room inside and out to play! Bailey loves her new school and we are getting settled in with new doctors and new therapists. Bailey also got her brand new power chair which helps her conserve energy. Most days she loves it and enjoys being able to be independent without getting so tired.
Last month we traveled back to Maryland for testing at NIH. Bailey had a whole body MRI and EMG studies done. I also had a Cardiac MRI done. Since the gene mutation we carry as been known to cause Cardiomyopathy (heart muscle disease) they wanted to make sure my heart was working okay. Steven should also have this testing done when he is able to take time from work, to make sure his heart is functioning normal as well. I am still waiting on the majority of the results from those tests since her NIH doctor needed to review them and compare them to her previous tests. All I do know is that she has advanced atrophy all over her body. The reason they wanted to repeat the MRI on Bailey was because in December at her annual visit they did a muscle ultrasound and her muscles had looked different than the one that was done 2 years prior.
Since we have been in NC we have seen her new Cardiologist and her heart still checked out the be okay even though her resting heart rate was on the higher end of normal. We will continue to follow up with Cardiology every 6 months as usual.
We have also seen an Allergy doctor which she hasn't seen in quite some time. They are running some blood tests and hoping to get her allergies more under control.
Yesterday she followed up with Sleep Medicine. She had her tonsils and adenoids out before we moved in December and we are hoping that corrected her suggested sleep apnea. The doctor was concerned that her Oxygen levels were pretty high during her last sleep study and said a lot of children with myopathy's need oxygen while sleeping and said that may be something Bailey will need. They want to repeat her sleep study first.
Today she is having her hearing re-tested since she failed a hearing test in her right ear. I personally think it's a fluke since she has NEVER had any issues with hearing in the past and generally hears really well. Tomorrow she gets her eyes checked. In a few weeks she will have her therapy evaluations and see Endocrinology. We're getting current checks on EVERYTHING!!
Next month she will see Orthopedics, GI, and Pulmonary. Both girls have Genetics appointments in August and we are still waiting for an appointment with Neuromuscular/MDA clinic for both girls.
Addison has started her Speech Therapy and we love her new Speech Therapist. She still is considered to have Childhood Apraxia of Speech. She knows what she wants to say and she is trying really hard to get the words out the best way she can. We are looking into getting her into pre-school in August.
Our plate is more than full as usual but we are managing and we are all really happy with our move.
Bailey and Addison had appointments at NIH on Wednesday 11/5. They had several evaluations and we updated them on the last 2 years since we’ve been there. Both girls had muscle ultrasounds done, Bailey had a skin biopsy done, and then both girls had Echocardiograms. This all took about 7 exhausting hours. Both girls were really good and they each got to pick a toy from their treasure chest before we left, which made them happy!
So the outcome of the day?
Bailey’s muscle ultrasound was different from the last one that she had done 2 years ago and they saw things that they had never seen before. They also were still concerned with her fatigue. They think it is possible that it is more extreme than that of a person with a muscle disorder/mutation. They want to follow up with some repeat testing which she will have to do as an inpatient at NIH since she can’t fast prior to testing. They are going to repeat a muscle MRI, a specific lower muscle MRI, and an EMG with stimulation under sedation. They said it is possible that a contributing factor to her fatigue is moderate obstructive sleep apnea. She had a sleep study done at the end of September and we found out they saw some thing’s on the test. She has an appointment Monday with ENT to look for upper airway obstruction and then depending on what they see they will probably repeat the sleep study while introducing a BiPap machine. We had a horrible experience with the sleep study so hopefully this one goes better. We do not have the results of her echocardiogram yet but I suspect it is fine since she just had one done at the beginning of October and she has started a possible preventative heart medication since then. Bailey had a skin biopsy done at the end of the appointment which they will use to validate her TTN mutation and to compare to some other testing that we are waiting on from Germany.
Addison’s blood was sent away for testing to see if she has the same TTN gene mutation that Bailey has. We will have the results for that in 4-6 weeks. If she does have the mutation she will need to have the same 3 tests that Bailey is going to have done. We are of course crossing our fingers that there is no mutation found. She had a muscle ultrasound done and they saw mild muscle abnormalities on her lower extremities. It could be normal for her age but they are not completely sure so they are going to monitor it for now and do another ultrasound in a year or so. We don’t have her results from her Echocardiogram (this was the first one she’s ever had) but the tech said he saw no signs of a cardio myopathy which is promising!
Steven and I are scheduled to go to NIH on December 16th to have multiple Cardiac tests done. They informed me that it may not be completely necessary for me to have the testing done since Steven is the carrier and I am the variant. They are researching on if it would be beneficial for me to have the testing done. If not Steven will still go and have his heart looked at. Again, we are crossing our fingers that nothing comes of these tests!
I feel like every time that I feel like things may start to slow down or smooth out we get bombarded with new information, new tests, new things to wait for, new everything. Even though I knew something would come of this appointment (or else we wouldn’t need to be seen at NIH) it is frustrating and overwhelming never knowing what to expect. We always have so much going on, it’s hard not to wonder why this is our life and when will things ever slow down for us or mainly for our children but this is our normal and we go through the motions because that is what we HAVE to do as parents. I’ve learned to not go into appointments expecting things to go well and then I’m not disappointed when we get bad news and I’m ecstatic when things do go well! I try to stay positive and take things one day/one test/one doctor at a time but I do have my down moments, everyone does.
Until next time…
Hello!
Just wanted to update everyone on things that have been going on in the Breeden house!
Since my last post in June we found out our whole clan will be going back to NIH soon (no date yet) for testing and a big meeting with Dr. Bonneman. They will be doing Cardiac Imaging (MRI) on Steven and I and Echo's on both girls as well as some other testing. I'm interested to find out what Dr. Bonneman has found out about the rest of the results of Bailey's whole exome sequencing. I'm pretty nervous. This will be our Third visit since 2011 and I don't think the nervousness will ever go away.
We have been very slowly trying to wean Baily off of her overnight feed AGAIN. Things had been going very well until this last week. She overheated at a school function on Friday and her sugars have been off ever since then. She has also been bruising pretty badly (11 on just one leg) so I was getting concerned if her body was having trouble bouncing back due to the weaning. For some reason every time we try to get her off of this feed her body goes into complete shut down. This time has gone much better but now we're starting to worry that the overheating put her body in defense mode. So her GI suggested we bump her up 20 more ml's for 3 weeks and hopefully her body will stabilize and then we can finish weaning her by 5ml's a week instead 20 like we were doing before. Hopefully it works out. She really needs to get off of these feeds. It is starting to really affect her weight. We don't want her to be overweight especially with muscle related issues. Her Pediatrician ordered blood work to try to get to the bottom of her bruising. So we will try to get that done by next week.
Bailey started 1st grade August 25th and she LOVES it. We are still working out little minor issues as they come along but so far the start of the school year has been much more pleasant than last year. Hopefully after she gets her power chair in October she will be able to go to school longer than 2 1/2 hours a day. She has been really disappointed in leaving early this school year. I can't say I blame her but at the same time as a Mom I can't allow her to push herself to the extreme and crash at school. Walking around the school off and on for 6 1/2 hours would be completely detrimental to her health. Fingers crossed that the power chair is a huge help for her.
In other news! Addison had a second opinion Speech Evaluation on Monday at the Children's Outpatient Center in Laurel. Bailey's Genetics doctor recommended Addison having this evaluation to try to determine what she really needed and what may be the cause of her talking the way she does. The evaluation went really well. Addie was such a good girl for cooperating in such long testing with a stranger. The Therapist believes Addison may have Apraxia of Speech but she can not be officially diagnosed until after 3. Apraxia of speech is a motor speech disorder. The brain has trouble moving the body parts needed for speech. So she knows what she wants to say but her brain has difficulty coordinating the muscle movements necessary to say the words. I believe that's pretty darn accurate. She knows exactly what she wants to say and she tries so very hard but her words come out as only the sounds of the words or only vowels come out. So she is starting Speech Therapy there on Monday morning and she will still get Speech through the Howard County Infants and Toddlers program as well. They also want her to have a formal oral motor/feeding evaluation as well.
Bailey has follow up appointments with Endocrinology, Cardiology, Developmental Pediatrics(both girls), GI, Orthopedic, and a Sleep Study all within the next month! Plus NIH and Addie's oral motor evaluation whenever we have dates for those. Hopefully nothing but good news comes from all of those appointments.
I guess this has sort of became a blog for both girls now!
There is NEVER a dull moment in this household. We're just trying to take things as they come and deal accordingly. Sometimes that is much easier said than done!
As always thank you to those who continue to support us on this journey, it sure is a wild one!
I was under the impression that yesterday we would be getting the FULL results of Bailey's Whole Exome Sequencing test. Technically I did get a copy of all of the results BUT there are a few other genes aside from the TTN mutations that had variants of unknown clinical significance. A variant is an alteration to a gene. Since Children's is unclear if those specific variants mean anything to Bailey they are having Bailey's doctor at NIH go through everything very thoroughly since this is his area of expertise. So it will be some time before I know anything about those.
We did learn that Bailey's congenital myopathy, Arthrogryposis, and possibly her extreme fatigue were caused by these TTN mutations. Therefore this is Genetic which is something we have been wondering since she was born. The combination of a mutation in Steven's genes and a variant in my genes caused the mutations for Bailey, according to the test.
I had already stated in the previous post that these specific mutations can cause all types of muscle related diseases and issues including early onset of fatal heart and respiratory failure. To be preventative she will be getting cardiac and pulmonary work ups every 6 months.
Unfortunately, so far we do not know what is causing Bailey to go through Hypoglycemic ketoacidosis (her crash episodes) but they are assuming at this point that it is just her body's way of telling us something is wrong. Instead of just getting a cold or virus she has the potential for her body to just go into shut down mode.
One wonderful thing we were able to find out through this testing is that Bailey had no cancer genes in her body which is wonderful news!
So we do not quite know what the future holds for Bailey just yet. There are some really scary things documented for these specific type of mutations but we will remain positive and hopeful that she beats those odds. We will remain cautious and preventative the best we can though.
What this all means for Addison, we just don't know yet. Our Geneticist believes there is something going on with her but she doesn't necessarily believe it is the same exact thing that has gone on with Bailey since she is very different. She did an official full exam on Addie yesterday and she wants to await the results of her MRI on July 7th before going further with any testing. She does believe that Addie needs more aggressive speech therapy. She isn't sure if she can't process the words or she just has trouble getting them out. We do know she does understand words. She wants her to see someone at Children's as well as through Infants and Toddlers and for us to encourage communication with both verbal cues and sign language.
Bailey had a Dexa scan (bone scan) done today and a spine x-ray. They saw the start of Osteoporosis on an x-ray a few months back and they wanted to see what the rest of her body looked like and if that may be contributing to some of her pain/soreness in her lower back and legs. We should have the results for that within few days.
We are overwhelmed as we always are with test results. Bailey is one of a kind and as I've said before I'm not convinced we'll ever know the full extent of what's going on in Bailey's body but I'm happy we know some more information and this allows everyone to watch her heart and lungs a bit closer to hopefully prevent anything fatal. I certainly don't want to even think about losing her or having to live life without her. I just hope that our friends and family are able to understand now how serious this all has been and will continue to be. We aren't always able to participate in things because sometimes she is just too tired to function and we would rather allow her to rest than to push her and something bad happen. Everyone has been really supportive along this journey that will be never ending and we really appreciate all of the love and prayers given on a daily basis. Bailey and Addison are the light of our lives and we will do whatever needs to be done for them to strive in the best way they possibly can!
Thanks for reading!
Since everyone has been asking about the results of Bailey's Whole Exome Sequencing that was done in February I decided to post here.
We were not expecting results until July so I was surprised when I heard from our Geneticist that results were back. NIH and Children's National are working together to decipher all of the results and they have requested the extended copy so we do not know everything just yet.
What I do know is that Bailey has mutations her TTN gene which would explain the congenital myopathy (muscle issues). A TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in muscles the body uses for movement and in heart muscles. With these mutations it is documented it can cause fatal heart problem and respiratory failure. Bailey's heart has been checked and is perfectly fine as of now but they want to be proactive and monitor her heart every 6 months now. She has asthma but Pulmonary will probably be keeping a close eye on her as well. With these mutations it does not explain her hypoglycemia/metabolic crashes and they are not sure if it explains the extreme fatigue or not. They are working hard as a team to get everything they can out of the results they have. We do not have a definitive diagnosis but we are getting somewhere. This is the biggest clue we've ever had!! There is alot more from the results that they want to discuss with me at a face to face meeting but this is the main thing they have been looking at. Addison is going to have a Genetic evaluation at that meeting as well.
Bailey's Geneticists says Bailey deserves the very best from them and that Bailey is making sure they all get smarter during the process! She said Bailey is Bailey and she has made a group of doctors really come together to try to help her.
I'm trying to stay optimistic right now. I'm not going to think of all the things that could potentially happen or that are happening to my sweet girl. I'm going to take her to the beach for 6 days and then I'll deal with everything head on!
Thanks for all of the continued support during this journey! We couldn't get through life without the support of our family and friends!
I'm terrible at blogging these days. Life just tends to get in the way of pretty much everything.
I thought I would update since we had Bailey's follow up at MDA clinic yesterday which is a clinic we go to every 4-6 months and get to see several doctor's in one visit. It is usually an overwhelming day but when I left there this time I was actually feeling pretty happy in Bailey's care.
We saw Neuro-muscular which is the main clinic that follows Bailey and I am in constant contact with. They are going to try Bailey on a new medicine that may help with muscle fatigue. They aren't sure if it will work since it is typically used with a disorder that Bailey does not have but they figured if it does work then it would be great especially to possibly get her to school full time in the future. We should know within a few days if the medicine will help or not.
We saw Pulmonology who just went over how Bailey has been breathing and gave refills on her asthma medicine and did a chest x-ray just to make sure there were no changes in her lungs. Bailey was supposed to have a sleep study several months ago but we had to cancel it so we're looking at having that done in December.
We also saw Physical medicine and rehabilitation who looked at Bailey's hands and feet, how she gets around, and what she is able to do as far a self-care. We are thinking of trying out different AFO's from Nascott at the National Rehabilitation Hospital. The way they were described would seem to be better for Bailey. We love Shriners and Dr. vB but it seems better for Bailey at this point to try out something different.
Also we saw Nutrition who just told us to follow up with GI due to a 12lb weight gain that is pretty concerning but she is scheduled to see them in November.
Neuro filled out her school paperwork for our 60 day review meeting with Home and Hospital services and as of right now they are keeping her at a half a day (once we work up to that) and following up the rest with the Home and Hospital teacher. I am hoping to get her to the half a day point by the end of October/beginning of November depending on her health of course.
Bailey will see Genetics in November as well but as of right now ALL of her doctors are actively working together to get Bailey approved for REM so that they can start the process to have the Exome sequencing covered by insurance and then they will move forward with that. It will be a very lengthy process and we won't have results for several months but HOPEFULLY something will come from this that will help them know what to do to help with these dangerous Metabolic crashes that she continues to have. It is just far to critical for her to continue this way for the rest of her life. Help is needed beyond explanation.
School has been going well, her team has been great with keeping in contact with me and having lots of emergency procedures in place for Bailey. They are constantly making sure Bailey has all that she needs while at school. She has been asking me to stay at school longer so hopefully her health will allow that to happen soon!
I've been meaning to update for the last few weeks but life for busy as usual!
On February 7th Bailey had her 6 month follow up with the MDA clinic where she sees several specialists in one appointment.
First up was Neuromuscular which we saw Meganne our go-to person between NIH and Children's. She unfortunately did not deliver good news. In my previous post I stated how close we thought we were to a diagnosis and well she totally cancelled that out. They got the last of the biopsy results from New York (mitochondrial lab) and they were negative for Mitochondrial disease. So there is one last blood test they can do through Genetics that is for Mito and after that we are back to square one again. Very frustrating to feel so close and then be pushed so far back. It hurts! We went over other recent information, saw Physical Medicine, and Pulmonary. Everyone is super concerned with Bailey's increased fatigue and staying sick every other week. Pulmonary diagnosed Bailey with Asthma which is why her cough pretty much never goes away. She was put on a daily inhaler, rescue inhaler, and nasal spray. She also needs a sleep study to make sure she breathes safely in her sleep and a repeat swallow study. She had blood taken to check her vitamin D and other levels to see if they are contributing to the fatigue!
On February 12th Bailey saw GI, she hasn't gained any weight in over a year but she's gotten taller so her BMI is not great and she's about 8% from not being nutritionally safe again. So back on feeds she goes, 480mls a day for 4 months until follow up.
February 22nd Bailey had follow up with the Developmental Pediatrician and we discussed her behavior and OCD tendencies which she's had going on for awhile. We are in search of a Child Psychologist to help Bailey learn to control her emotions and cope with change. It's hard to tell the root of the issues since she always has so much going on but we don't want it to get worse so to speak.
So we have a busy next several months all while adjusting to new medicines and back on tube feeds.
Our main focus right now is figuring out the major fatigue issue and getting control of her behaviors. I'm putting finding a diagnosis on the back burner for now. I don't know if we will ever know what's really wrong with Bailey but if we ever do find out it will just happen when it's supposed too. I just want to make sure she's safe, as healthy as we can get her, and happy! We can do those things with or without a diagnosis.
"Fall into me, my arms are open wide and you don't have to say a word cause I already see that it's hard and you're scared and you're tired and it hurts and I wanna be the one you reach for first."
