What is Muscular Dystrophy?

Here is a good explanation of What Muscular Dystrophy is.....

Here is a list of things most people with Muscular Dystrophy wish people knew....

https://themighty.com/2015/11/what-people-with-muscular-dystrophy-wish-others-understood/



For those that are Bored I mean interested lol. in learning more about our particular form of Muscular Dystrophy.  Desmin Myofibrillar Myopathy....

What is the official name of the DES gene? The official name of this gene is 􏰀desmin.􏰁
What is the normal function of the DES gene?
The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibres, desmin proteins are important to help maintain the structure of sarcomeres, which are necessary for muscles to tense (contract). The desmin proteins surround rod-like structures called Z-discs that are located within the sarcomere. Desmin connects the Z-discs to one another, linking neighbouring sarcomeres and forming myofibrils, the basic unit of muscle fibres. The connection of sarcomeres to each other to form myofibrils is essential for maintaining muscle fibre strength during repeated cycles of contraction and relaxation.
How are changes in the DES gene related to health conditions?
Myofibrillar myopathy can be caused by mutations in the DES gene Page 2 of 5

More than 40 mutations in the DES gene have been found to cause myofibrillar myopathy. Most of these mutations change single protein building blocks (amino acids) in desmin. Mutated desmin proteins cluster together with other muscle proteins in the sarcomere to form clumps (aggregates). The aggregates prevent these proteins from functioning normally. A dysfunctional desmin protein cannot properly interact with Z-discs, leading to abnormalities of sarcomere structure and problems with the formation of myofibrils. DES gene mutations that cause myofibrillar myopathy impair the function of muscle fibres, causing weakness and the other features of this condition. People with DES gene mutations are more likely to have a weakened heart muscle (cardiomyopathy) than people with myofibrillar myopathy caused by mutations in other genes. In some cases, cardiomyopathy is the first symptom of this condition. 

First Vlog

https://vimeo.com/187744832
The following link will take you to a video I made addressing some questions about MD and the equipment I use.  I apologize because after viewing the video I realized I answered the second question but I didn't do a very good job at answering what a typical day looks like for me.

What does a typical day look like for me?  Well everyday is different.  Having three kids I don't get the amount of rest needed which can make me super tired and super cranky.  I have to be aware constantly of my responses. Just ask my sweet family I'm not always perfect at this :(.   Its like somebody trying to function daily on an hour of sleep.  I struggle with getting dressed particularly getting my legs through the pant hole, or putting on my socks.  This is from my legs being weak and not able to stretch or lift.  I have to remind myself to eat often.  It is a chore to eat because it requires so much work and effort of those particular muscles.  Everything needs to be chewed well and broken down because my swallowing muscles are weak and food gets stuck and causes choking and aspirating.  I need to take in a ton of calories because my muscles are constantly atrophying and I can not keep weight on.  I have to concentrate on my walking to avoid falls, I have to rely on others to open cans, lift objects, bend down for me etc.  I have been blessed with many helpers Though and a great team who help out a ton.  When I don't have doctors appointments I  love to meet with friends, get out of the house to soak in the sun, go to Chik-Fil-A, go on dates with my hubby, spend time with my family, and enjoy church.  I hope this gives better insight into my days and the challenges with MD.  Keep asking those questions.  I feel blessed if I could help even just one person. I love educating people and I'm hopeful that more and more research will be done in the future to hopefully make things easier for not just myself but for Noah and kids his age and younger who are dealing with the hard symptoms of Desmin Myopathy.

God Bless,

Mel

New Friends

I have been praying recently that the Lord would bring another family into our lives that is walking with Muscular dystrophy.  Someone that could encourage us and vice versa.  Well God recently answered this prayer in a beautiful way.  On Sunday a friend came up to me and began to tell me about a college friend she reconnected with on FB.  She said the family was so similar to ours that she couldn't believe it.  This family had two boys and a girl all similar ages but get this the two older boys have a rare form of MD and the oldest boy just had a heart transplant.  I was stunned and soaking up every word she was telling me eager for more info.  I asked her to send me their blog.  An hour later I was reading about this amazing family.  We have all the same doctors, they are believers, and a homeschool family.  I emailed them right away giving a little information about our family and this started a chain of emails and texts which led to a wonderful meeting yesterday.


I was eager to meet this family soon and so surprised when Jill the mom invited us over this week.  Ian there oldest had just had his heart transplant 3 weeks prior.  I was nervous of germs so only Noah and I went.  They were having a special guest  " Dean Johnson" who is apart of Victory4Youth.  Dean Johnson had heard about Ian's story and wanted to come meet him.  If you remember Power House teams back in the day thats similar to what Dean is apart of.  He ripped phone books in half for us and  bent frying pans, and shared his testimony.  It was an encouraging afternoon.  Ian is an incredible 14 year old who is allowing the Lord to use him how he sees fit.  One of the most encouraging moments for me was when Ian told us all that he told Jesus no matter what he throws at him he made up his mind to smile at it.  He also told us that when he was in heart failure the Lord met him in the comfort of a warm blanket and other ways.  Incredible perspective at only 14.  I really loved this family and I'm so eager to get to know them more and hear more about their journey.  If you would like to learn more about their story their blog is https://iansheartbeat.wordpress.com and Ian writes his thoughts as well.  Would you please pray for them as Ian is recovering and has many apts. ahead and medications for his body to adjust to.

God is so good and he continues to amaze me by the way he meets us in such beautiful unexpected ways.

Our Life in Pictures

I thought I would share what it looks like to live a life with MD in pictures.  Often times pictures online can give a false outlook on the realities of the disease.  People with MD just desperately want to look and feel normal so we fight against all of the equipment and things that are necessary and helpful to get us through the day.

A picture like the one below at a dear friends wedding can appear to look as though I'm full of energy and able to get around effortlessly but what you don't realize is that, my wheel chair and my husband are a few feet away, and I'm resting in between each shot. I went home before the reception to put my breathing machine on and by the end of this beautiful day I was in a recliner at the reception and every part of my body was sore, my husband carried me to the car, carried me up a flight of stairs, undressed me and put me to bed.  Thats the reality behind this picture.

The pictures below give you all a better idea of the realities of life with Muscular Dystrophy.

The top collage shows the following:
-Full leg braces(KAFO)
-Mid calf AFO braces
-a cane to help with balance loss
-Hand controls to be able to drive when your feet and legs are not strong enough
-cough assist machines for both Noah and I to assist with breathing weakness.  We do this together each day
-wheel chair for longer distance help due to weak leg and feet muscles
-surgeries
-lots of breathing tests

The bottom collage shows the following:
-bi-pap machine use to assist with breathing and poor oxygen
- Transplant statuses due to cardiomyopathy a symptom of MD.  This picture also represents the rollercoaster of emotions and ups and downs in health
-Echo's and lots of doctor visits
- The one with Jason on the microphone represents opportunities to share our story
-The building of relationships with doctors and the opportunity to teach and learn about this rare form of MD
- The daily medications

Then there is the multitude of things  you just can't get a picture of.  The swallowing weakness that keeps you from eating certain foods and tires you out just to chew. The divets in your spine, loss of all body fat, and size of your wrists that make you look anorexic.  The helpers that come each week, to help make dinner, and do laundry.  Family who does all the grocery shopping, errand running, and driving to doctor apts.  The husband and kids who grab stuff off the floor that I can't bend to get, carries things for me, helps me put on my shoes and socks, and carries the bulk of the load of everyday living.  The oldest boy who comes home from school so super tired, gets really out of breath,  and is exhausted by eating.

It's not always pretty but it's the road the Lord has for us and it's the way he is using our family for his glory. I hope this is all helpful in knowing what living with MD really looks like.  As always please feel free to ask any questions and let me know what you would like to see me address on a future blog post :)  Thankful for you all.

Mel

Timeline

I have been encouraged to start blogging again more frequently.  I have become aware that there isn't a whole lot of information or blogs out there that share what its like to live a life with Muscular Dystrophy especially our particular form. There are hundreds of forms of MD and they all present so differently in symptoms that its difficult to find others that can relate.  One thing that almost all the forms of MD have in common is that their is no cure.  The progression is what significantly varies from one another.  This blog will still be a place to hear updates and to learn how to pray for our family but I hope it will also serve as a resource to learn and relate.  I want to start off by showing a timeline of when our journey with MD began.

1977- Melody was born and it was a normal delivery

1989- Melody could not keep up with her peers when it came to physical activity, always came in last for the mile and walked most of it, was nicknamed peanut because I was super small.

1997- Began having syncope episodes which led to pace maker implantation for complete heart block.

1999- Jason and Mel get married

2003
- Noah was born six days past my due date.  Complicated birth which led to an emergency c-section.  My lungs began to fill with fluid, my heart rate dropped and so did Noah's. Noah hit all his milestones early and we never saw any signs of MD early on.

2005
- Melody underwent emergency pacemaker surgery to replace a lead wire.

2006
-Jonah was born.  Planned c-section.  Healthy boy.
- I had dropped a significant amount of weight this year after just having Jonah and was now under weight and we started to become concerned.  Got my thyroid checked, blood tests, saw a nutritionist etc. No real explanation.

2007
- Noah starts T-ball and we notice lack of coordination but didn't associate it with anything and never found it cause for concern.
- I had pacemaker surgery to replace another lead wire

2008
- I became pregnant with our third child and miscarried at 10 weeks. We prayed about adopting and submitted our application almost to the day of Hannah's birth.

2009
- I began to trip and fall occasionally.  We just chalked it up to me being clumsy :)

2010
- We flew to CHINA to adopt our beautiful daughter who had a multitude of heart issues the major one being poor oxygen due to only having a single ventricle. Double inlet left ventricle, pulmonary stenosis, VSD, ASD and too many others to name.
- 3 days after being home Hannah goes into major heart failure, we were given a 30% chance of survival if they operated or the option to keep her comfortable and she would not make it through the night.  God performed the first of many miracles and she had her first successful open heart surgery.

2011
- I was still falling and hadn't gotten any answers about my weight loss. After being referred to a neurologist we discovered it was a form of MD.  Which one though? Lots of tests, biopsies and doctors visits.

2012
- Noah complains of chest pain a few times.  we don't think much of it but remember being encouraged by Hannah's doctor to get EKG on our boys.  I took the boys to get tests and got a phone call that afternoon that I needed to take Noah to the Cardiologist right away.
- We were able to take Noah the next day and I was told that they might have to airlift him to UCLA or admit him to CHOC.  We were stunned and confused. UCLA  agreed to let us take him first thing in the morning.  More tests, trouble with insurance, a switch to CHLA then back to UCLA.
- May 30, 2012- We were told Noah had Restrictive Cardiomyopathy and would need a heart transplant.
- September 19 2012- Noah was put on the transplant list as a Status 2.  Lots of meds, monitoring, caths, and procedures became our new normal.

2013
- Our family goes on a make a wish trip-Disney Cruise to the Bahamas
-Tons of fundraisers put on by friends and community
- I purchase my first wheel chair-pink of coarse for longer distance walking
- Pacemaker surgery to replace battery

2014
-Genetic testing confirmed that both Noah and I have Desmin Myofibrillar Myopathy a rare form of Muscular Dystrophy.  We find out that both our heart conditions are symptoms of the disease and that it manifests different in every person.  We find out that it is a slow progressive disease that will effect all of our muscles.
- Jonah is tested and the results are negative- Praise the Lord!!!
- Hannah has second open heart surgery "The Fontan" to place a shunt to help the blood flow to her heart and they also implanted a pacemaker in her abdomen.
- Melody finally breaks down and decides to listen to doctors and gets her first set of AFO's(foot and ankle braces).
- Melody gets adaptive equipment put in her car as her legs become to weak to drive.
- Discovered weakness in Mel's swallowing and breathing
- Melody started being seen at the UCI MD clinic and learned that her breathing numbers were very weak.
- Bi-pap was delivered as well as a cough assist machine to assist with Melody's breathing

2015
- Noah moved from a status 2 on the list to a status 7(in active) Praise The Lord!!!
- continued progression of weakness for Mel
-Started walking with a cane
- We sold our house in La Habra

2016
-Noah began getting out of breathe frequently and was referred to the CHOC MD clinic
-we learned Noah's breathing numbers are mildly weak
-Noah receives his cough assist breathing machine
-Noah gets diagnosed with Torsil Coalition and has foot surgery
-Noah comes off the transplant list(Praise the Lord)
-Noah has a hard time physically getting around at summer camp and keeping up with his friends doing anything physical.
-Because of more weakness in Mel's legs she gets her first pair of full leg KAFO's but unfortunately they do not work out.
- Bought a new home in La Mirada close to church, friends,school and support

** Updated Below

2017
-Melody has surgery to insert a G-tube.  This was a much needed surgery and helped to gain 6 pounds.  It has also increased energy and made it easier to get meds and nutrition in.
-Melody has three surgeries in 6 weeks. Making it four surgeries in 10 weeks. Melody had a Ventricular Tachycardia episode that made her heart stop for 11 seconds.  It was determined Melody needed a defibrillator.  Many complications led to two more additional surgeries.
-Melody starts using a walker to get around easier at home.
- Melody now needs help getting dressed, and turned in bed
-Through overnight testing it was determined Melody needed to be put on a liter of oxygen at night.

2018
-Melody, Jason, and Noah fly to Minnesota to visit the Mayo Clinic.  We met with a doctor who is a specialist in our rare disease. We leave feeling encouraged that research is being done to help people with this disease.  Also thankful to finally find a doctor familiar with our disease.
-Noah begins to show weakness in hands, feet, and abdominal muscles
- Melody continues to get weaker and has a hard time walking without the aid of another person.
-Jason has an unexpected seizure like episode and is taken by ambulance to the ER

2019

-Mel gives up driving due to progressive weakness and equipment being to expensive to purchase

-Jason and Mel celebrate 20 years of marriage

2020

-Mel gets power chair

-Covid-19 hits hard. Lock downs and end of school year is moved to online school

-Noah graduates high school and Jonah graduates 8th grade

2021

-Noah moves into the Biola dorms


I'm sure I left out some things as it was hard to go back and remember it all. If you have questions for our family please leave them in the comments and Noah and I will be happy to answer them.
 It has been a hard road but we are aware that it could have been so much harder.  We are grateful for all the ways that the Lord has and continues to meet us in our brokenness.  Thankful that he gives us a hope thats far greater than a cure for MD.  He sustains us, gives us strength, and his mercies are new every morning.  He allows us to continually see him working through our situation and for that we are so grateful.