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.
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Date: September 1, 2006
Content source: National Center on Birth Defects and Developmental
Disabilities
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