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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!

Tuesday, October 23, 2012

Few and far between

It's been about 6 month's since my last update.. our life has been ridiculously busy! Bailey had a wonderful summer and on June 30th 2012 Bailey became a big sister to baby Addison Jayne :)

She is a GREAT big sister, she loves to help with feeding her, getting her diapers, and she loves to "play" with her and make her smile.

Bailey continued to have PT, OT, & ST throughout the summer at Howard County General Hospital, she loves it there and often doesn't want to leave when it's time to go. I'm so greatful that she can recieve outpatient therapy!

She took her very first vacation to Nana & Grandpa Steve's WITHOUT Mommy and/or Daddy! She had a blast and is still talking about it!
She turned 4 years old on August 21st, we had a small birthday party at our home with some family and she was so excited. She even picked out her own dress to wear!
Bailey was very anxious to start Pre-K at the end of August, she loves her teachers and has been earning her "Gordy Bucks" to get prizes! I love listening to her tell us all about her day when she gets home! She always seems so excited! I hope the thrill for school lasts for awhile :P
We decided to get Bailey put back in AFO's after 6 month's without them because she was falling frequently and starting to hunch over to keep her balance while walking. We picked them up at the beginning of the month, she picked them out this time and some sparkley shoes to go with them! She does have a slight curve in her back that they are monitoring and her hips are pretty tight so they are asking for more hip stretches BUT she's been walking with her back straight again! Well worth it!
Now for the real reason why I haven't updated in quite awhile... As everyone know's Bailey had a muscle biopsy done back in April and I was waiting for the results before I posted an update. We have gotten all of the results except for the one from the Mitochondrial Lab in New York. We do have some significant findings BUT we are awaiting the last results to put all the pieces together so that NIH can give us the diagnosis they have been thinking of. Have I said before waiting really sucks? Especially when it comes to your childs life! We are due back at NIH in December and this time around Baiely AND Addison will see PT and get muscle ultrasounds. They are looking at Addie just to make sure she doesn't have the same damage as Bailey does. I have no reason to believe she does but I am still extremely nervous that they will find something and turn my world upside down all over again! Steven & I are also going to give blood that day, Bailey is apart of a special gene study where they are going to look at all of her indivudual genes and are also going to comapre them to ours!

Bailey is also due back at MDA clinic in December for follow up!

I will update as results come in and things change!

Tuesday, April 24, 2012

It's been awhile!

It's been nearly 2 months since my last blog post, we have been so BUSY!



Bailey ended up in the hospital for 4 days shortly after my last blog post. She was very sick with a cold but we had trouble keeping her fever under 104 and with her history of metabolic crisis they decided it would be best she stay. She ended up being just fine and recovered well!

She had an Upper GI done at the end of March to look at what may possibly be causing her to choke. All that showed up but was several episodes of reflux! So she's been steady on her meds since Feb. and the choking has improved so far! *fingers crossed*

Bailey & I took a nice Spring Break to NC, it was nice to forget about doctors appointments and procedures for a week! Bailey really enjoyed being there as usual!



Shortly after we came back from NC it was surgery time! On April 13th Bailey had an open muscle biopsy on her right leg. They took 4 pieces of muscle and a piece of skin to be sent away for several different tests! The surgery went well! She was admitted the night before for overnight fluids and able to go home 4 hours after surgery was over! We will get SOME of the results in June and the rest as they come in! Hoping for answers.. any kind!

3 day's after surgery Bailey had her follow up appointment at Shriners in Philly and we met with a different hand doctor there as well. Dr. vB built up the bottom of her right shoe to try and train her stubborn foot to stay straight along with the small brace she wears. It works well until she is shoe-less! Her left foot is still looking pretty good!! I loved the hand doctor he was very informative and told me things I NEVER knew! There are several surgical options for Bailey's hands and 1 for her shoulder that could be done to increase her functionability BUT her muscles are far too weak that he thinks it would end up being more harmful than helpful! He said she may eventually get strong enough for them but if not she will get stronger as she gets older! He said she is doing wonderful even though there are things she can't do right now and to focus on the positive! I really liked him and will see him again in a year!

Bailey has been having evaluations for outpatient therapy at Howard County General Hospital lately! Ever since September when she quit getting home services and only receiving services at pre-school she hasn't shown significant improvement and therapy plays a HUGE role in how she gets around and does things in her everyday life. So I took it upon myself to find her additional therapy and finally it's done! She will be getting PT, OT, & ST Tuesday's & Thursday's indefinitely! I'm SO happy! She will still get her services at school as well!

Thursday she has her post-op check up, so hopefully her leg is healing well and all is good in that area!



Other than that Bailey is doing pretty well! Still going to pre-school when she doesn't have to miss days for appointments or being sick(which is constant). She is still her sassy almost 4 year old self, growing up fast and very anxious about becoming a big sister in July!

Sorry for the book, I will try not to leave so much time inbetween posts!

"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."