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EG’s STORY: 

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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