I am going to hope that this will be one of those things you
try to write and think, “I have no idea what to write,” and then can’t seem to
stop. First let’s start with who the heck I am. My name is Tarra and I am the
eldest daughter of Nancy, the woman who started all this. I am writing today to
tell you a story about the grandson she was inspired to do this ride for the
MDA for.
Clay is now 13 years old and in the 7th grade at
Patti Welder Middle School in Victoria, Texas. He is an amazing young man and
an inspiration to most who meet him. But let’s back up just a bit. Clay was
born on New Year’s Eve with no complications, a beautiful 6 pound, 21 inch baby
boy. He has an older half-brother, an older full brother, and a younger
half-sister, that are all perfectly healthy. He appeared to be perfectly healthy and happy.
He was a very easy baby and always smiling! He was a bit delayed in development
as far as sitting up, and he never really crawled. Instead he kind of scooted
on his knees and forehead. We became concerned about him when he was almost two
and not walking on his own. And it seemed that every time I would pick him up
and carry him around on my hip his legs would turn blue. His pediatrician just kept telling me, “He is
fine. He will crawl/walk in his own time.” When he did start walking, he was
falling all over the place and it seemed to take him forever to get back up. (Way
longer than normal) He got taller but didn’t seem to be thriving like he should.
He was always in the very lowest end of the spectrum for weight, even though he
had a very healthy appetite. Finally in 2003 we were referred to The Brody School
of Medicine at East Carolina University Genetics Dept. They pulled and bent and twisted and folded
him, stretched and measured him. They wanted to see all the things they could
do as far as manipulating his body. For
example, Clay at that time could touch his toes to his chins, his fingers to
his wrist, and if he pulled on his ears you could put your finger between the
ear itself and his skull. He was hyper mobile in almost all of his joints. This
being said, he was labeled and photographed as having Ehlers-Danlos Syndrome.
Ehlers–Danlos syndrome (EDS) is an inherited connective tissue disorder with different
presentations that have been classified into several primary types. EDS is
caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen, such as
mutations in the COL5A or COL3A genes. (This is the collagen of granulation tissue, and is produced
quickly by young fibroblasts before the tougher type I collagen is synthesized.
Commonly associated with keloid formation, Reticular
fiber, also found in artery walls, skin, intestines and the uterus.--COL3A1).
The collagen in connective tissue helps tissues resist deformation. Collagen is
an important contributor to the physical strength of skin, joints, muscles,
ligaments, blood vessels and visceral organs; abnormal collagen renders these
structures more elastic. In some cases, the severity of the mutation can be life-threatening.1
Diagnosis: A diagnosis can be made
by an evaluation of medical history and clinical observation. The Brighton
criteria are widely used to assess the degree of joint
hypermobility. Both DNA and biochemical studies can be used to help identify
affected individuals.
Diagnostic tests include: collagen gene mutation testing, collagen typing via
skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity.
However, these tests are not able to confirm all cases, especially in instances
of an unmapped mutation, and so clinical evaluation by a geneticist remains
essential. If there are multiple affected individuals in a family, it may be
possible to perform prenatal diagnosis using a DNA information technique known
as a linkage study.1
No other testing was done. We were told that as long as
it wasn’t vascular, which since he wasn’t showing any signs of heart issues,
they assumed it was just Classic type I with hypermobility. Kids that have this
usually live a pretty normal life. As they grow their muscles grow and develop
and help to stabilize their loosened joints.
I know you are thinking,
“What has this got to do with Muscular Dystrophy?” From here we can fast
forward a bit as we were told, “There is no cure and nothing to be done about
his condition.” So we went on with life as normal. Clay continued to live life
like any other child his age. He played with his brother and other family, but
they all knew it takes him a little longer to get around. If you tell him he
can’t do anything, he will prove to you he can. Clay dealt with the falls and
trips and the stumbles and the subsequent scrapes and bruises like any other
kid. He was never able to get his hands up to protect his head during falls, so
often times, those injuries ended up being hospital visits! He was well known
at the ER. Sicknesses always seemed to
hit him hard. We also spent quite a few nights in the hospital every time he
caught whatever bug was going around at school. Even hospitalizing him over
Christmas. I have always explained what is going on with Clay so he has always
known. When people asked why he was so skinny, he was able to tell them. He
never got offended by it and never let it hurt his feelings.
October 2009, when Clay was
5 we made the move to North Dakota where things got interesting. The school he
was attending didn’t know what to think of him. He self-advocates and is very
forth coming with any information he has about his condition, even at such a
young age. He had trouble getting around in snow boots and getting in and out
of a snow suit for recess and dismissal. They were concerned by his weight but
instead of calling a meeting with me, the School Nurse called Child Protective
Services with concerns about neglect. To
appease them I took Clay to a local doctor and told him what was going on. Dr. Parag
Kumar, MD at Medcenter One in Bismarck, North Dakota, took Clay on as his
patient. He was the one who started the
process of finding out what is really going on with him. After hearing Clays limited history he
requested to do more testing. He was concerned that Clay didn’t actually have
EDS. Clay’s pain was about to start. We were sent for blood work and a sweat
test. These tests showed that he has an elevated level of enzymes in his
muscles. This explains the muscle weakness we all assumed came with his EDS.
Now Dr. Kumar suspects that Clay ,along with EDS Clay has Limb-Girdle Muscular Dystrophy and Myopathy.
Limb-girdle
muscular dystrophy (LGMD) isn’t really one disease. It’s a group of
disorders affecting voluntary muscles, mainly those around the hips and
shoulders. The shoulder girdle is the bony structure that surrounds the
shoulder area, and the pelvic girdle is the bony structure surrounding the
hips. Collectively, these are called the limb girdles, and it is the muscles
connected to the limb girdles that are the most affected in LGMD. LGMD,
like other muscular dystrophies, is primarily a disorder of voluntary muscles.
These are the muscles you use to move the limbs, neck, trunk and other parts of
the body that are under voluntary control. Over time, muscle weakness and
atrophy can lead to limited mobility and an inability to raise the arms above
the shoulders. 2a
Myopathy is a muscular disease in which the muscle fibers do not function for any
one of many reasons, resulting in muscular weakness.2b
As a Member of the Shriners, Dr. Kumar set us up with the Shriners and helped us get an appointment with Cary H.
Mielke, M.D., at the Shriners Hospital for Children –Twin Cities. We made the
six hour drive from Bismarck to Minneapolis. It was well worth the trip. They
were amazing! From the waiting rooms set up so that siblings wouldn’t be bored
to the exam rooms where instead of having to go from room to room, department
to department, everyone came to us! They even sent in Radiology. Where they did
a full body X-ray for Clay in a matter of minutes and we could actually watch
it come up on the computer screen! They sent us home with some things they thought
would help Clay in the future like a Thera-band and some thera-putty as well as
getting his feet molded for inserts for his shoes to help him with his
tightening heel cords. They would ready to pick up in Bismarck at our local
Shriners in about a week.
Dr. Kumar also set Clay up to see a Physical Therapist,
Occupational Therapist and a Hydro Therapist. We spent half the week at the
hospital getting him the therapies he needed. But it seemed to be helping. We
have been told this is why he isn’t thriving. The extra enzymes are eating away
the muscles that are supposed to be growing and supporting his joints. Now we
move on to the next stage in the diagnosis. I have to take my baby boy to a neurologist
to discuss the next round of tests. We have to have a muscle biopsy, but before
we can do that we need to decide what muscle would be best to take the tissue
from. This means an EMG must be done. EMG
is used as a diagnostics tool for identifying neuromuscular
diseases. What happens during an
EMG? Clay was hooked up to a devise that
sends and electric current through his muscles. This part was painless. The
next not so much, he was then subjected to having a needle put into different
muscles all over his body.
We moved to Victoria in
January 2011.
Upon settling in here in
Texas, and getting the kids in their new school, we started the process of
getting Clay the services he was getting in Bismarck. We got Clay an
appointment with the Shriners Hospital for Children, in Houston so they could
assess how he is doing and see if we needed anything. This is where the struggle began, because I
still didn’t have a new Pediatrician for Clay, and all of the places in town
that serve kids for OT and PT require a doctor’s referral. So I kept calling,
and calling and calling. No one would see him. Either they weren’t excepting
new patients or they don’t take his Medicaid.
Clay had a 504 Plan in school but the new teachers saw how so many
things on it that are just not appropriate for Texas. So they suggested we go
another route and look at some Special Education Testing for Clay to get him
those services he needs at school! In the meantime Clay is going to school and
participating with the other kids to the best of his ability.
By the summer of 2011 we
had finally gotten the results from the EMG, and his Neurologist in North
Dakota referred us to Dr. Farida Abid, MD a Pediatric Neurologist in Houston at the Blue Bird Circle
Clinic with the Texas Children’s Hospital, (about 1 hour and 45 minutes from
home). She went over the results of Clay’s EMG with us and decided it was time
to set up the biopsy to be taken from the area of his greatest weakness. His
upper thigh would be their target. She also set us up to see some Doctors who
come to Victoria with a Satellite Clinic from Driscoll’s Children’s Hospital
out of Corpus Christi. She wants Clay to see a Cardiologist just to cover our
bases. She told us that while she does like the hospital and staff at Driscoll,
she would prefer we have the procedure done in San Antonio at the Christus
Santa Rosa Children’s Center, (2 hours in the opposite direction). Now the
procedure for a muscle biopsy is generally very easy. They give you a local
anesthetic and take a little snip of muscle tissue, stitch you back up and send
you home. But Clay couldn’t be that
easy. The Cardiologist found a murmur, and wants us to come in for a sonogram
of his heart. The procedure will be rescheduled after we know what we are
working with.
Now, as a Mom who is under
the impression that her baby boy who has EDS, now also has a heart problem, I
start to really freak out. Oh my God, does this mean his EDS is now Vascular? It’s
not enough that he already has this awful disease but now he has myopathy on
top of that, and if it goes Vascular what is going to happen to him? What kind
of life will my child have? I’m wondering how I am going to tell him. I have to
tell him because he has been so involved in all of this. He needs to know. Clay
has always taken everything in stride. He listens, ask his questions and just
lets it flow. He never gets upset by it. He just seems to let it all roll off
his back. He deals with it and moves on like nothing bothers him.
They set the Cardiologist
appointment for about three months later when the Satellite clinic was back in
Victoria so we wouldn’t have to travel again and Clay wouldn’t have to miss any
more school. It is now October and Clay is back to school and all is going
pretty good. He is being the normal 3rd grade boy. We saw the cardiologist at
the clinic. They did an ECG and a sonogram of Clay’s heart. It turns out that
he has Aortic Regurgitation and an abnormal valve.
An ECG is a simple, noninvasive
procedure. Electrodes are placed on the skin of the chest and connected in a
specific order to a machine that, when turned on, measures electrical activity
all over the heart. Output usually appears on a long scroll of paper that displays
a printed graph of activity on a computer screen.3
Aortic insufficiency
(AI), also known as aortic regurgitation (AR), is the leaking of the aortic
valve of the heart that causes blood to flow in the reverse direction during
ventricular diastole, from the aorta into the left ventricle.4
On January 11, 2012 Clay
received a Certificate of Knightly Character for Perseverance. He was nominated by his PE teacher. She told
the school and parents at the assembly that even with all the things he struggles
with every day, he never stops. While in class one day, they were running the
track in preparation for the physical fitness test and she noticed Clay
straggling in the very back of the pack of 3rd graders and she told
him, “You know you don’t have to run right?” His response was true to Clay’s
nature, he simply asked her, “Do they all have to run?” When she answered yes
he responded with, “Then I’m going to run too. It may take me longer to do it,
but I will do it!” In March of 2012 Clay
started receiving OT and PT at school during his PE time.
Clay’s biopsy is being
scheduled. Because of his new complication, he can’t have the easy version of
the procedure. Clay will have to go under anesthesia and have surgery to get the
sample. It’s now time to tell him that he is having surgery. Through all of
this our family has started going to Church and finding wonderful support from
the members of Faith Family Church here in Victoria. As a family we needed any
support we could get. I was struggling with faith because I didn’t understand
why. Clay and I got saved and were
baptized together. He made the decision that he would never be mad about the
body God gave him. He is determined that God made him this way on purpose. He
will be able to reach people that a normal person wouldn’t. He lives every day
knowing that one day he will do what he was put here to do. He will help the
person God has sent him to and then one day, if God deems it so, he will be
healed. It was with his understanding and the way he was moved by Faith, that I
find peace. It was his simple act of falling to his knees and praying when we
told him. Then he got up, hugged me and asked when.
He was in great care. The doctors at Christus
Santa Rosa were amazing. They took great care with Clay. After surgery he was
put in a room to recoup and learn how to treat the incision. We were given
directions on how to clean it and let us know how to deal with the pain that
would follow. Clay took it all in stride eating as many popsicles as he could
before he was released. We were told that they would call us with the result
and of course to follow up with his pediatrician in a couple of days.
We had been trying for
years to get a pediatrician to see Clay. I tried 16 different Doctors in and
around Victoria, Texas. Either they weren’t excepting new patients, they didn’t
see kids his age, or they won’t take Medicaid. One, Dr. Yogesh C. Dhingra, MD, P.A., F.A.A.P, finally agreed to see him because I told
them he just needed a follow up, and then told us, Clay and Myself, “I don’t
have to time to dedicate to a patient with his needs. And I won’t recommend any
of my colleagues take that on.” After months of calls we finally found a doctor
to see him! Yay!!! Dr. Thaivalma refers him to a Geneticist and Neurologist. The
Neurologist decided maybe Clay has something different going on. The
measurements that were used to diagnose him with EDS are complete opposites
now. Clay used to be hypermobile. Now it appears he has a limited range of
motion even with his therapist working with him a couple of times a week. The
biopsy comes back inconclusive. We need to do more tests. The Geneticist says
he want a DNA screening to be done and he sends us to the lab. So we prep him
to and head off to the lab where we were told we needed to have the test
approved by Medicaid to have them run. We wait. I finally get a call back from
Medicaid telling me the test have been denied. They are expensive and, “They
will not, extend or improve his quality of life.” So they don’t want us to have
them done. We are stuck in limbo. We never got any more information from the
Neurologist. His Doctor moved out of the country and we were seemingly back at
square one. No answers, no Doctor.
Another year goes by taking
Clay to the ER for everything.
October 2013, Clay got sick
at school and was sent home with a fever. We took immediate action, lots of
fluids and rest to bring down the fever as fast as possible, but to no avail. I
couldn’t take it anymore. We went to the ER. It was about 9 pm when they
finally saw him and once hearing his history, they sent us packing! Ok not as
bad as that, but they did pack Clay up in an ambulance and send him all the way
to Dricoll Children’s Hospital in Corpus Christi, Texas. About 2 hours away, at
nearly midnight we arrived to a busy ER. Clay had Pneumonia! We were admitted
and finally made it to a room around 1am. One of the wonderful things about
Driscoll’s is that it is a teaching hospital. So when the Pediatric
Pulmonologist came in to see Clay the next morning he came in with a group of
baby doctors! Why is this good? Because they got to see what happened next
first hand. I hope it made them think. I hope it made them remember in the
future what kind of Doctor they want to be when they finally make that
decision. Dr. Paul Nolan asked us a simple enough question. “Why are you here?”
I answered him a little perturbed, hadn’t he even looked at Clay’s chart? “He
has pneumonia.” I said to him rather
snippy, I might add. “Yes, I see that but, why are you here? Pneumonia is
treated with a shot and a follow up with your doctor for the second shot. Why
are you here?” Now I understand what he is asking me. “We don’t have a
pediatrician and the ER is scared to deal with him. He has a laundry list of
diagnosis some of which they have never heard of. They are scared of him.” I
said. “Even if that were the case, with something like this you treat the
illness. You treat the pneumonia, any kid can get pneumonia. But because they
didn’t think first, you two are stuck here when you could be resting
comfortably at home. What do you mean you don’t have a doctor? Did you just
move here?” “No Sir. We have been here for 3 years almost. I have tried 16
doctors in and around Victoria, TX to try and find him a doctor. They all turn
us down.” I told him the same thing I told you all earlier. With all of the
little doctors around all looking astonished. That is when I turned to them and
said, “Remember this when you are collecting patients. I assume you all went
through all that school and spent all that time studying and learning so you
could help people. He needs a doctor, one who isn’t afraid to give him his
vaccinations and treat his colds and coughs. Don’t be afraid to treat the hard
ones. They are supposed to be the most rewarding. Don’t turn a patient away
because you don’t understand, take that chance to learn for the both of you.” Dr.
Nolan checked up on Clay’s lungs, asked to see his chest and noted that Clay
has Pectus
excavatum, he asked if he was
comfortable, and left followed by his train of trainees. To my shock he came right back with a list of
names. “These are all doctors whose patients I see on a referral basis. Call
them, start at the top and go down, don’t speak to a nurse or the receptionist.
Speak to them! If any of them tell you no, call me! I will refuse to see any of
their patients, they can go to someone else.” In tears I shook my head and
smiled and thanked him. He came back several times to check in on Clay until he
finally said we were ready to go home. “Don’t forget! Call me if you have any
issues.”
Pectus excavatum is a condition in which a person's breastbone is sunken
into his or her chest.
In severe cases, pectus excavatum
can look as if the center of the chest has been scooped out, leaving a deep
dent. While the sunken breastbone is often noticeable shortly after birth, the
severity of pectus excavatum typically worsens during the adolescent growth
spurt. Also called funnel chest, pectus excavatum is more common in boys than
in girls. Severe cases of pectus excavatum can eventually interfere with the
function of the heart and lungs. But even mild cases of pectus excavatum can
make children feel self-conscious about their appearance. Surgery can correct
the deformity.6
Well, I did as I was told.
I started calling. The first day was all outgoing calls waiting for call backs.
I called everyone on the list and waited… Ever notice how when you are anxious
minutes take hours… 4 or 5 hours later I got the first call back! Dr. Ignacio G Montemayor Jr
was the first to call. I told him the whole spiel (I’m getting better at it the
more I have to tell it.) When I finally finish, he tells me his caseload is
already full and he’s not currently accepting new patients but to bring him in
for the follow up. He would like to meet Clay and talk with him. YAY!!! If nothing else we at least have a
follow up set. If he turns us down I still have all the other doctors that are
supposed to be calling me back. So we have an appointment two days later. I go
and pick up Clay’s prescriptions, well most of them. I was told at the pharmacy
that they can’t give us the nebulizer because Clay had pneumonia not asthma, so
Medicaid will not cover it. How am I supposed to give him the prescribed breathing
treatments with no nebulizer? When we get to Dr. Montemayor’s office we filled
out all the usual paperwork but of course with Clay what takes most parents a
couple of minutes takes me 20. But we are called back and Clay is weighed in!
We always get excited about that because at this point he is 10 years old and
weighs in at a whopping 50lbs! Once we got into the exam room, it was a
different experience than we have ever had. Dr. Montemayor handled this follow
up completely different from any other pediatrician we have been too. Dr.
Montemayor spoke with Clay, not me. He asked all the questions he needed
answered to Clay, only looking to me if Clay couldn’t answer or had trouble
being understand. It was great to see Clay answer each question like a pro. I
was having a proud Momma moment! When Dr. Montemayor asked how the breathing
treatments were going, we had to tell them that we couldn’t do them. That the
medical equipment company wouldn’t give us the nebulizer because Clay doesn’t
have asthma. He was not happy to hear
this and walked out of the room. Next thing we knew he walked back in the exam
room with a new machine still in the box. Then told me, “We are going to see
Clay for any of his ordinary needs, and if you have anything extra-ordinary, we
will see him for that too. I also have a friend of mine, I think would really
like to meet a kid like Clay. He is an awesome young man. Dr. Wang is a
pediatric neurologist and I think it would good for Clay to see him. I’m going
to call and see when he can see him.” I
did good to keep it together on the drive home, I waited until Clay was inside
and called his Dad. Justin was just as excited as I was, we finally have a
Doctor! He is not afraid of Clay! Not only did He take Clay on, he took all of
his brothers and his sister on as new patients!
March of 2014 we
had a death in the family. I was on my way to my family in Pennsylvania when I
got a phone call around 9pm informing me that we have an appointment with Dr. Ching H. Wang, MD out of Driscoll Children’s Hospital. They set us up
and appointment for when he has a satellite clinic that will be in Victoria in
a month so we wouldn’t have to travel and they look forward to meeting Clay.
This appointment in April 2014, was completely different
from what we expected. Dr. Wang is lively and fun. He was just as excited to
meet Clay as Dr. Montemayor said he would be. Clay is unique. He self-advocates
and can tell you his whole story with minimal help from me. Amazingly enough he
does it all with a smile. Dr. Wang made note of all we told him and all that
Clay had been through before he asked about that test that was listed as
ordered but never fulfilled. He reviewed the results of Clay’s muscle biopsy
and then asked why we never had the test done. As I told him what happened and
how Medicaid had denied the test because of cost and why, Dr. Wang’s face got
more and more stern. Once we were finished with the full story, he smiled and
told us, “I want the Lamin A/C DNA Sequencing Test run and I know they might
try to fight it again so I need you to go to Driscoll and have the blood drawn
at the lab there. We usually have a better chance of getting the approvals from
there. If they tell you no for any reason, I want the name and phone number of
the person denying the claim. I want this test done. I know it is a long drive
but it is necessary.” We agreed to go and he set the appointment for the next
week. We went down first thing in the morning so we would be back home before
our other sons would get home from school. The check in is fast and they get us
sent down to the labs in no time. In minutes Clay was back getting his blood
drawn and shortly after we were ready to leave. Minutes! We were only there for
minutes before we were ready to go. They were faster than most fast food
restaurants. Just before we left I turned to the nurse who just gave Clay a
sucker and asked, “How long do you think it will be before we know if Medicaid
will approve the test or not?” and here is when I got the shock of a lifetime.
The nurse smiled and told us, “You won’t. Dr. Wang has already taken care of
it. If the test is denied he will be the one to fight Medicaid, not you. You
have enough to deal with.” There was no holding back! I turned to Justin and
Clay and just smiled though my tears. Coming to Texas was the best decision we
have ever made.
Clay continues to see Dr. Nolan regularly as well as a
Cardiologist at Driscoll’s. Clay’s MD has causes some issues. So in May of 2014
at his 6 month visit, Dr. Nolan ordered Pulmonary Function Tests. Pulmonary function tests (PFTs) are a
group of tests that measure how well your lungs work. This includes how well
you're able to breathe and how effective your lungs are able to bring oxygen to
the rest of your body.5 We had a little trouble with
these because, again there was more going on then we knew of. Clay did his
absolute best to do as the nurses asked but he just couldn’t do as much as they
wanted. Finally one of the nurse came back in and asked if Clay has Pectus. The
light seemed to come on and we were off to the exam room to await for Dr.
Nolan’s interpretations of the test results.
His results show a decrease in lung capacity. Clay now has Restrictive Lung Disease brought on by
his MD. He measured Clay’s Pectus and noted it hadn’t gotten any worse and let
us know that he was getting some prescriptions for daily breathing treatments
for him and told us that he would need these every day to keep the mucus in his
lungs loose so that it would be easier for him to cough it out if he gets sick.
He asked if we had gotten any results from Dr. Wang on the Lamin A/C DNA
Sequencing Test. We haven’t heard back from him at this point so Dr. Nolan said
he would give him a call and let me know what he learns.
Restrictive lung diseases (or restrictive ventilatory defects) are a category of extrapulmonary,
pleural, or parenchymal respiratory diseases that restrict lung expansion,
resulting in a decreased lung volume, an increased work of breathing, and
inadequate ventilation and/or oxygenation.7
We saw the Cardiologist again so they could check on
Clay’s heart and are happy to report that at this time they can no longer hear
the Murmur. His heart seems to be working well and pumping strong. He will see
us again in 6 months since we are expecting a final diagnosis soon and after
that maybe we would only need to see him once a year.
A few days later Dr. Nolan called us to let us know that
he had spoken with Dr. Wang and that he wants us to call and set up and
appointment to see him. He would like to give us the results in person. School
is almost out for the year so we schedule it for June so Clay will not miss
anymore school. I was stressing pretty hard for this appointment we have been
waiting for so long to finally put a name to what was happening to Clay. He was
less concerned. Clay has had very few worries about his condition. “Regardless
of what it is called my life is what I make it.” I wish I had his confidence.
The other kids stayed with friends of the family while Justin, Clay and I made
the trip to Corpus Christi and answers!
Two hours later we sat waiting for Dr. Wang to come and tell us the
news. It is official Clay doesn’t have Ehlers Danlos Syndrome. He does have Congenital Muscular Dystrophy. While it
is still scary to me Justin and Clay are cool as cucumbers. He explained that
CMD can present as EDS with the laxity of his joints but the gene deformity was
not present in his test. He told us “as far as MD goes, if you had to have one,
this is the one you want. As long as Clay keeps taking care of himself the way
he has been, he will be just fine. He will likely need assistance walking later
or even a wheel chair but he is going to be ok.” Clay spoke up for the first
time I noticed tears in his eyes and when he asked his question I nearly lost
it. “So what about if I have kids?” Dr.Wang just nodded and told us, “The only
way for your children to be born with this is for both you and your spouse to
have the same genetic mutation.” That boy of mine was worried about his kids.
He was 11 years old, why was he worried about kids? That is just the way he was
processing all of this. He wasn’t worried about how long he would live or how
hard his life had was going to be. I knew, one day, he was going to fall in
love and get married and this was something he needed to know when the subject
of having children of his own came up.
Congenital muscular dystrophy (CMD) refers to a
group of muscular dystrophies that become apparent at or near birth. Muscular
dystrophies in general are genetic, degenerative diseases primarily affecting
voluntary muscles.8
For the next year life was as normal as it could be. Clay
saw his doctors every six months. Clays Cardiologist agreed that he is still
doing well as far are his heart goes and he will start seeing us yearly instead
of twice a year.
In August of 2015, he had another
PFT. This time Dr. Nolan was a little worried that his lung capacity wasn’t
where he would like to see it so we would be adding something new to Clays
breathing treatments. A Percussion Vest and a Cough Assist. This would take a
little time to get since again we would have to deal with Medicaid to get the
equipment needed. We got several calls letting us know that they were still
working on getting the equipment but Medicaid was fighting them on it. We
finally got a conditional approval because they are needed more on a
preventative maintenance need rather than to help cure an illness. Meaning they
will help keep Clay from getting pneumonia versus helping him get rid of the congestion
he already has. The conditions were simple. Use it or lose it. Every couple of
months they call us to request are reading of usage off the machine and will
continue to do so until the machine is paid off or they have us send it back. On October 27th 2015 his Vest was
delivered and the next day a therapist came to teach me how to use it. The
cough assist was much more difficult to get. There were several companies that
had them but there were not in our area or the company is in our area but they
don’t have the machines. About a month later we finally got Clay’s Cough Assist
and again had someone come out and teach me how to use it.
In November 2015 we went back to see
Dr. Nolan and this time he has concerns. Clay’s test results while not showing
a major decrease from his last appointment have charted a substantial decrease
from the first time he was seen back in October 2013. Dr. Nolan is concerned
that with Clays decreased lung function he might not be getting the oxygen he
needs and this could lead to issues with Clay’s brain function. He orders a
Sleep study for Clay and says he knows a place in Victoria that usually works
with adults but may see Clay anyway. He would call them and set things up for
us. A couple of days later we got the call from Premier Sleep Disorder Center
in Victora. They have set the appointment and sent us a packet of paper to fill
out noting Clay’s sleep habits. We fill them out and bring them with us to the
study. On November 6, 2015 Clay has his first experience with a sleep study.
Everything goes fine and we are sent
home with the knowledge that the Doctor would review the results with Dr. Nolan
and he would report back to us. Shortly before Christmas we were notified that
the results weren’t what they, the doctors, liked to see so they are ordering
another type of sleep study. Clay stopped breathing 11 times in 30 minutes. We
need to come back after the Christmas break and try something new. This is
where my kid does it again. With all his silent strength he says to me, “So if
this thing works?” “You will likely have to have one.” I counter knowing where
this is going. “I’ll have to use it every night?” “Yep” With a calm expression
he closes the conversation with, “Well, whatever keeps me here!” Can you
imagine how hard it is not to break into tears when he says stuff like that? My
kid who is far stronger than I am.
So this is where we are now. We are
still waiting to hear back from Dr. Nolan about the Sleep Study. Clay is
looking forward to going to MDA camp this year. He would like the Funds Raised
from this event to go toward the camp as well as Adaptive materials and
assistance. Don’t let this brief biography fool you. Clay is no sad kid
struggling with a disability. He is a regular kid most days. He hangs out with
his friends when he gets his chores and school work done. He plays video games
with his brother and Dad. He is living his life to the fullest everyday knowing
that even if something is hard to do, you don’t complain that is hard you just
do it. He loves his friends and family and has never met a stranger he couldn’t
make smile. He even competes in some sports activities with the school
district. He loves his therapists and his Adaptive PE coach like they were
family and he works hard for them. Life didn’t stop because he has MD, it just
got more interesting. Clay knows what kind of man he wants to be. He knows what
kind of father he wants to be. Clay has
taught us all that people are all different and you can’t always tell just how
different until you get to know them. He has learned that a smile can fix just
about anything. In a bad mood smile, someone else in a bad mood, smile at them.
Having trouble doing something, smile, at least you are trying. His life has
and will continue to touch others. He has inspired so many people just by being
himself and letting others get to know him. His family has all learned from
him. We have all learned that strength doesn’t always come with big muscles in
your arms, sometimes it comes from big muscles in your heart. His Faith is
never ending because he believes there is a reason for everything. He was made
like this to touch the lives of others. I don’t know about you but I’m pretty
sure his life’s task has been accomplished, and I am so proud to have him call
me Mom.
