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Monday, November 17, 2014

Juat keep on moving forward..

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…

Wednesday, September 10, 2014

Life keeps going and going and.... going

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!

Thursday, June 12, 2014

More information

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!

Wednesday, May 21, 2014

Whole exome sequencing results

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!

Friday, October 4, 2013

Moving forward



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!

Friday, February 22, 2013

Crushed

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.

Friday, January 4, 2013

Happy New Year



Happy New Year!!

As most people know we had our "big" appointment at NIH on December 19th. I don't think those appointments will ever get any easier on me. I always leave there so distraught after spending 8 hours listening to people recite what is wrong with my child. I can deal daily but when it's all presented to my face in an 8 hour period it's a bit overwhelming.

- Our day started out signing new consent forms for Bailey and adding consent forms for Steven, Addison, & I.

- Then Bailey had a PT evaluation to see the difference in the last year since we've been there, they scored her on what she can and can't do and also gave us other things to work on and that her PT's can work on too. I did ask the NIH PT if she had suggestions on what we could all work on to help her get up from laying down easier, she has always had a major head/neck lag. I was devastated by the answer I was given. She told me that we could work on things but not to beat our head against the wall if it never improves because children with these type of diseases often don't gain better head/neck control it actually gets worse. No one has ever told me that. I'm pretty sure I shed a tear walking out of there.

- Then we had a small lunch break before they started their evaluations on Bailey and Addison.

- At the evaluations they went over everything that's happened in the last year, looked Bailey over, noted the changes and didn't say too much. They also evaluated Addison and as we suspected she is perfectly fine and they all called her "super baby" since she is so ahead of herself with everything! Such a relief!

-Then while we waited for Dr. Bonnemann to come in we all gave blood so that they can compare our genes to Bailey's(We will not get any type of results from this research for atleast a year).

- Dr. Bonnemann evaluated Bailey and did another muscle ultrasound on her. Her muscles are just so damaged and in ways they aren't used to seeing, it really boggles my mind and there's too I guess.

- Then it was meeting time! They are still awaiting one result from the biopsy(done in April) from Columbia University in New York. It is taking for freakin' ever! He did tell me they are most definitely leaning towards a Mitochondrail disease which is what we have thought and that he couldn't see it being anything else. There are several Mito diseases though so we aren't at a point to know which one yet. They also think she may have a CoQ10 deficency and if the results confirm that she will need to go on supplements. It would make alot of sense if she did have that because it is something that would explain her lack of energy! They also informed me that if she were to have another "crash" like she did August of last year they need to be notified immediately and she will be hospitalized (obviously), proper blood work done since it wasn't done right the last time, and she will need a spinal tap! EEK I don't like that idea at all! They also are debating on repeating yet another MRI. I mean really how many different MRI's does one need?

I forgot to add they want Bailey to go back to GI for a follow up. She has been off of her feeds for 9 months and has stayed the same weight for the last year 1/2, She's gotten taller though so she looks so teeny tiny! I hope she doesn't have to go back on feeds but I guess we'll see in February!

I'm supposed to contact our go-to person by the end of January if I haven't heard anything else about the results or a dagnosis or anything.

So NO we still do NOT have a direct answer but we are so close I can feel it. I've never felt like we were on the edge of reaching a diagnosis but I feel it now. I just want to know what we're facing and how to better help Bailey for the future!

Thanks to everyone for always helping us be so positive, for praying for us, for listening to us, for comforting us when we need it, and for just being there! It doesn't go unappreciated!

I hope everyone had a very Merry Christmas!

"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."