| Single Gene
Disorders and Disability (SGDD) |
This story is shared courtesy of EG and his
family, and the Iowa Neuromuscular and Related Genetic Disease Program.
For many families, interaction with the NM Program
lasts a lifetime. In 1986, a young couple asked their pediatrician about
their son’s development. They were concerned that his speech, language,
gross motor and social development were slower than his sister’s.
Examination at that time identified hypotonia and delayed gross motor skills.
He had sat independently at age 16 months and was not walking at age 21 months.
At his local doctor in Waterloo and parents’ insistence, a referral was made to
the diagnostic clinics at the University of Iowa Hospitals and Clinics.
This boy’s initials are EG and this is his medical story. Following this
medical review, EG and his mother provide comments on their experiences with the
NM Program and living with muscular dystrophy.
Medical summary
In June of 1987, the UIHC pediatric diagnostic
clinic discovered abnormal laboratory findings most likely associated with
muscle disease, when considered in the context of EG’s developmental history.
He was 28 months old and had persistent low tone, constipation, developmental
delay in many areas, decreased strength, poor growth and large calves on exam.
There was no family history of similar problems, including no one with muscular
dystrophy. Referrals were made to a dietitian for poor growth, a
gastroenterologist for constipation and the Neuromuscular Clinic for possible
muscular dystrophy.
The diagnosis of Duchenne muscular dystrophy (DMD)
was confirmed by muscle biopsy. Physical therapy recommendations were made
to prevent or postpone joint contractures of the Achilles tendons and
hamstrings. EG was registered with the local MDA (Muscular Dystrophy
Association). His family was presented with detailed information about the
complications of muscular dystrophy that he would experience throughout his
shortened lifespan. The NM Program offered medical evaluation and
guidance, physical therapy, occupational therapy, speech and educational
services and nursing care. EG’s health in relation to muscular dystrophy
was monitored every 3-6 months in the NM clinic for the next 16 years.
The NM Program services work in coordination with
many local and state services. EG was followed by the AEA (Area Education
Agency) for delayed speech, language and social development.
(Approximately 30% of boys with DMD have mild to moderate cognitive impairment.)
EG continued to receive general health care through his local doctor’s office,
with the NM Program providing guidance and support when the process of muscular
dystrophy complicated routine health problems of childhood. For example,
EG was considered at higher risk for complications of malignant hyperthermia and
respiratory problems when he had general anesthesia for a tonsillectomy.
The NM Program coordinated care with the pediatric urologist and
gastroenterologists for problems with enuresis and constipation.
Commercial genetic testing had just recently become
available as a diagnostic tool in 1988. Genetic counseling and testing was
provided to the family and it was determined that EG’s mother and sister were
not carriers. Therefore, the likelihood of EG’s mother or sister having
children with muscular dystrophy was low. Most likely, EG had muscular
dystrophy as a result of a new genetic change that occurred at the time of his
conception, as this happens in one third of all males with DMD. (DMD
affects one in 3500 live male births.
In 1989 (age 4), it became evident that EG was
becoming quite weak and falling several times per day. Consent was
obtained to participate in a new research trial through the NM clinic, involving
oral steroids to slow the disease. While the medication (prednisone)
decreased the number of falls and increased his energy level, the side effects
of the medication were not tolerated. EG gained weight to the point of
obesity and had extreme problems with hyperactivity and irritability. The
steroids did not work for EG, but remain a common and often helpful treatment
for others with DMD.
EG was still able to walk in 1991, but had
difficulty with stairs. He had been prescribed night braces to help
control the contractures of his ankles, but they were too uncomfortable.
By October 1992 (age 7), EG was using a wheelchair 75% of the time and he lost
ambulation by Christmas of that year. The NM clinic provided
recommendations to treat leg pain, a prescription for a power wheelchair and a
mechanical lift for transferring him from the chair to bed. Just 3 years
later, there were increasing concerns about respiratory illnesses as a major
threat to EG’s health. (Respiratory failure and pneumonia are the most
common reasons for death among boys with DMD. Historically, 90% of boys
die before age 20 of respiratory or cardiac manifestations of the disease.)
He was taught breathing exercises and provided an incentive spirometer.
After losing the ability to walk, contractures
worsened and EG developed scoliosis. He was referred to orthopedics and
had surgical fusion of his spine to correct the abnormal curvature. While
this surgery provided many aesthetic and health benefits, the increased height
caused a new problem for EG in feeding himself. When the spine was
surgically fused, EG became taller and unable to lower his head by curling the
spine. EG couldn’t lift his arms to his mouth due to weakness. He
also could not bend down to see his homework and write. Thus, following
the spine surgery and with progression of the disease, EG lost independence.
He required help to feed himself, bath, toilet, dress and for all personal
hygiene activities. He was becoming totally dependent on others for most
activities of daily living. EG lives with his mother, whom is a single
parent working at least 14 hours per day outside the home. EG began to
have home health services through a local nursing service.
With the addition of services in the home, financial
concerns developed. This was complicated by concerns that Medicaid
coverage may not be available each month due to the family income. A
referral was made to social services to explore funding options and medical
coverage. Before the 1995 school year, a referral was made to Hospital
Schools (now known as Center for Development and Disabilities) to fully evaluate
EG’s social, educational and homecare needs and make ongoing wheelchair
adjustments. EG had a full time aide at school, an aide to assist in bus
transfers to and from school, aides at home to assist with ADLs, and physical &
occupational therapy.
In 1997, EG’s mother had the first of many long and
detailed discussions with the NM Clinic personnel about his future. The
risk for respiratory failure was increasing each month. EG’s forced vital
capacity (a measure of breathing strength) was 43% of the normal value.
Soon EG and his family would be faced with decisions about ventilator support
and advanced directives. They were given medical advice and psychosocial
support throughout the many follow up clinic and phone conversations on this
topic. Treatment options included palliative care, mechanical support of
breathing without surgery using a ventilator known as bipap or the surgical
placement of a tracheostomy for full time mechanical breathing support.
With each appointment for two years, the monitoring of EG’s breathing showed the
disease was progressing. In 1999, EG was hospitalized for the first time
with pneumonia. EG and his mother wanted to prolong life, but to avoid use
of a machine unless it was the last option.
In January 2000, phone discussions with the NM
nursing staff became very frequent. EG was experiencing chest pain,
insomnia, headaches, trouble coughing up secretions, problems with his
wheelchair not fitting, poor appetite, urinary hesitancy and constant
discomfort. EG was crying several times per week and asking, “what’s
happening to me?”. Counseling was recommended. EG did not think he
could physically tolerate a hospitalization for evaluation and treatment, but
without it, medical recommendations could not be made. Without treatment,
EG’s health was in serious jeopardy. Arrangements were made working with
local nursing and medical caregivers to do a home study of his breathing while
sleeping. This study showed that he was not getting enough oxygen while
sleeping at least 50% of the time. EG (age 15) was afraid to go to sleep,
in fear that he would stop breathing. EG’s pulmonary function testing at
the April 2000 clinic showed his forced vital capacity was 11% of normal.
Finally, EG was started on mechanical assistance
(bi-pap—bi-phasic positive air pressure). By October 2000 he had better
energy, fewer headaches and less pain. He was evaluated for voice
activated computer software for writing and playing videogames. He planned
to attend a vocational rehabilitation workshop to explore work skills for
individuals with disabilities. Although he was feeling better, monitoring
of his blood gases revealed ongoing respiratory insufficiency.
Appointments over the next year focused on making EG comfortable and discussions
of whether to have an elective surgery to place a tracheostomy tube for improved
breathing with a ventilator. By February 2003, EG was also developing
problems with his heart, which would eventually lead to congestive heart
failure. (The heart is also a muscle and works poorly in the later stages
of this disease.)
EG was admitted to the University of Iowa Hospitals
and Clinics to optimize his bipap treatment and begin treating the heart
disease. A plan was established to have the tracheostomy surgery the week
after his high school graduation. A tube would also be placed for feeding
(gastrostomy tube) in anticipation of his losing the ability to swallow as
weakness progressed. EG was referred to the Continuity of Care
coordinators to facilitate the transition from inpatient care to a higher level
nursing care within his community. Care was coordinated by phone and
included nurses from the NM program, the Continuity of Care, EG’s local doctor,
DHS, the insurance companies & home health heath nurses. It was determined
that EG would need 8-16 hours of direct care per day by nurses following the
surgery, a wheelchair to hold the ventilator and a few other safety features in
the home.
In May of 2003, this surgery was cancelled as EG’s
community did not have adequate nursing support to safely care for him following
surgery. His alternatives were to accept placement into a nursing home
able to provide care to someone on a ventilator, have his mother quit her job to
care for him in the home alone or postpone the surgery indefinitely. The
surgery is now on hold awaiting local nursing agencies to find, hire and train
more nurses. EG is in fragile, but stable condition in his home. His
sister is an LPN who assists his mother in caring for him. They are
hopeful that nursing care will be available in the fall, before flu and cold
seasons are at their peak.
Mother’s summary and comments
(The following are the personal and unedited
comments from EG’s mother. She was provided with the summary of EG’s
medical history and reflects on her memories and thoughts from the past 16
years.)
7/8/86 I was very
disheartened when they couldn’t figure out what was wrong with EG. I was
told not to compare him to my daughter, regarding the milestones of sitting up,
crawling, speaking, etc. I knew something was wrong. No one would believe
me.
8/86 I
took EG to our family doctor to have a lead poisoning test done. (Still in
search of what is wrong with my child). His testing led to a diagnosis of
muscular dystrophy. I was glad to finally have a diagnosis, but that later
turned into devastation when I started reading about muscular dystrophy.
Still, at that time, I had no true realization of how hard my life was to
become, trying to raise a child with md and watching him suffer.
8/23/87 This was the first time
I came into contact with Dr. Ionasescu and the NM Clinic. Many questions
were answered and a muscle biopsy was performed to find which type of md.
My greatest fears were realized when the results came back as Duchenne muscular
dystrophy. The NM clinic hooked us up with a local EDI (Early Development
Interventions services) to teach us physical therapy exercises.
5/25/89 The NM clinic did
testing on my daughter, mom, sister and myself. It was determined that it
was most likely a new mutation in EG. I had a sense of relief that I had
not passed this on to EG. I was glad to know my sister and daughter would
have children with no risk of passing MD to their children.
3/20/90 EG started on
prednisone to slow the disease. He gained a lot of weight, which made it
harder to get around. He became very irritable, almost mean-spirited.
The year on prednisone was the “year from hell”. My petite, quiet child
became an overweight bully.
5/3/95 EG had luque rods
put in to correct for scoliosis (surgical spine fusion). We would highly
recommend the procedure, as he was able to breathe so much better.
9/5/97 Dr. Mathews
offered to talk to EG about progression of the disease and whether he would
choose to go on a ventilator when the time comes. I finally agreed to let
her, as I knew that I could not do it without becoming too emotional.
(Thank you Dr. M!)
4/18/00 We were very glad to
have the NM Clinic come to Waterloo. Talking to EG in Iowa City clinics
was very physically and emotionally draining for both of us.
Early spring 2003
EG lost the ability to play his video games. He was devastated as this was
the last independent thing he could do. At this point, I became very
depressed. I cried in the shower, at work, in my bed—anywhere that I was
away from EG. I didn’t want to add to his worries by seeing me fall apart.
Dr. Mathews prescribed Wellbutrin for me, which has seemed to help.
This spring, I came to the realization that my child is in the end stages of
a horrible disease. On the way to Iowa City for a sleep study to monitor
his bipap machine, I pulled over and had the talk with EG that I had dreaded for
16 years. I had to tell my beautiful child that he would never reach my
age. I told him of his life expectancy with and without the ventilator.
I had to tell him that there would be a time he would lose the ability to talk
and eat. He was so brave. He was most concerned about losing the
ability to speak and then how he would communicate his needs.
At the completion of the sleep study, it was determined that it was time to
go on a ventilator and a feeding tube. We scheduled the surgery, but over
a 2 month period could not find LPNs or RNs to care for him after the surgery at
home. It is not cost effective for the home health agency to pay RNs to do
the work and too much of a liability to allow his current aides to do his cares
once he has a tracheostomy and ventilator. So, we wait…..
Over the years, we have relied heavily on the NM clinic for information,
testing, prescriptions, adaptive technology and for comfort. They have
“held our hands” from the beginning to the end stages of EG’s DMD. We
would have been lost were it not for their constant assistance. I take
great comfort knowing that information, advice and comfort are only an email
away. The clinic has also helped us find funding sources for equipment and
home modifications, though referrals to appropriate agencies.
I have realized over the years that it is very expensive to raise a disabled
child. I know now that I will never have all the nice things that others
have. EG and I are punished every day by the politicians that continue to
cut programs, etc, that can assist us. When he was younger, we got 40
hours a week in aide services. That was cut a few years ago to 28
hours/week and at age 21, he will lose even more. Parents of disabled
children are forced to pay dearly for home and vehicle modifications, adaptive
clothing, special foods, aides so we can work outside the home and a lot of
Tylenol.
Life with EG has been an adventure. We’ve had to be creative in
adapting things for his needs. I’ve had my house torn apart to widen
doorways, install stair lifts, a roll in shower and more. There are a very
limited number of things we can do for entertainment. Of course, the
things he can do are costly. We’ve had to improvise, adapt and overcome at
every stage of decline with this disease. I personally have no time for “a
life”. I work, sleep and take care of my son. However, he is the
light of my life. I’d rather know him, as he is, then never to have known
him at all.
Patient comments
So what does EG think about life with DMD? Now
age 18 and newly graduated from high school, EG also gives his comments on
living with DMD.
“It sucks! I can’t run, swim, party with
friends, camp, go boating, etc. I always hurt physically. It takes 3
hours to get up in the a.m. and 2 hours of cares to go to bed at night. I
don’t have much of a day left after that.”
We respectfully thank EG and his mother for remembering their journey through
the NM Clinics for the last 16 years. There are many statistics and
numbers to document the NM Program’s productivity. We hope that the faces
and stories behind the statistics will tell more than any numbers, as these are
the real reasons for the NM Program.
[Return to Top]
Date: September 1, 2006
Content source: National Center on Birth Defects and Developmental
Disabilities
|
