The Political Will to Improve Early Childhood Systems, Week 6

Hypothetical Family Situation

Excited to be pregnant, my husband and I knew there was a 1 in 4 chance our baby would be born with Merosin Negative Congenital Muscular Dystrophy.  This particular type of developmental disability is autosomal recessive which means, “Both parents are carriers of the conditions, although clinically unaffected” (MDC, 2008, p. 1).  Prior to becoming pregnant, my husband and I were tested and our results revealed, we both carried the pathogenic variant (Quijano-Roy, 2012, para. 5).  Even though we knew it was a possibility, we never actually believed it would become our reality until the results from the, “Chorionic villus sampling (CVS), is a prenatal test in which a sample of chorionic villi is removed from the placenta” (Chorionic, 2015) came back positive.  As the doctor began describing what Merosin Negative Congenital Muscular Dystrophy was, my body quickly became paralyzed by fear, denial, and an overwhelming sensation of anguish.  This is what he shared in a rather cold, straightforward manner:

1.     Merosin Negative Congenital is the most severe form of Muscular Dystrophy.

2.     There is no cure.

3.     Symptoms will be present at birth, including:

a.      Decreased muscle tone.

b.     Floppiness

c.      Reduced movements.

d.     Tightness in hips, knees, elbows.

e.      Delayed crawling, walking; however, some children never walk.

f.      Scoliosis

g.     A minority may also experience seizures.

h.     Failure to thrive.

i.       Swallowing complications due to weak muscles.

j.       Gastrostomy tube (G-tube) often utilized to support nutrition.

4.     Later expectations

a.      Learning Disabilities have been present on occasion.

b.     Motor ability should stay the same until puberty when a child becomes taller and heavier.

c.      A weakness of respiratory muscles is common which may require a ventilator for support.     

d.     A difficulty with night-time breathing and morning headaches.

e.      Chest infections are also common (MDC, 2008).

5.     Supports will need to include a multidisciplinary team.

a.      Pediatrician

b.     Speech Pathologist to monitor the swallow studies.

c.      Physical therapist

d.     Neurologist

e.      Specialists regarding respiratory concerns and the potential for G-tube.

f.      Help Me Grow, early intervention

g.     Public school support at age 3.

Overwhelmed, yes but the love we feel for our unborn child is undeniably present and my husband and I will do everything we can to support our child and ensure he or she lives a rich, productive life full of adventures, hopes, dreams come true, and happiness. 

This is who we are:

My husband and I would be considered upper-middle class and specifically chose to move to Hudson, Ohio because of its outstanding school district.  We did preregister at a local early childhood program and anticipated our baby to begin at 12 weeks; however, I have enough sick, personal and vacation time accumulated to extend my maternity leave to 8 months.  We are also faced with the realities of medical costs.  Last year we chose to discontinue my husband’s insurance because my plan was much more cost-effective, but now we’re faced with the realization, my insurance plan may not cover all the costs necessary to meet the needs of our baby.  Another consideration is our finances.  Our cost of living matches our income and with car payments, a high mortgage and credit card debt, I have no choice but go back to work and we have no family in the area.  Until our baby is born, we are not sure if we will need or even qualify for nursing assistants.  If not, a licensed in-home childcare provider would be our first choice but if need be, an early childhood program would be a consideration but honestly, I don’t know if any site would even be willing to try.   Right now at this moment; however, my husband and I need support.  We may carry the gene but we have no personal experience or knowledge regarding Merosin Negative Congenital Muscular Dystrophy.

Question for my colleagues:

I would thoroughly appreciate any suggestions or comments regarding realism, portions of the early childhood system I may be missing or need to consider in greater detail, or any personal experiences regarding Merosin Negative Congenital Muscular Dystrophy?

                                                                          Thank you,
                                                                          Lynnette

References:

Chorionic villus sampling. (2015, October 17). Retrieved from https://www.mayoclinic.org/tests-

            procedures/chorionic-villus-sampling/about/pac-20393533

MDC Research Department. (2008, April). MDC1A (merosin-deficient congenital muscular

dystrophy) [pdf]. Retrieved from http://www.musculardystrophyuk.org/assets/0001/6379/MDC1A

Quijano-Roy, S. (2012, June 07). LAMA2-Related Muscular Dystrophy. Retrieved from

 https://www.ncbi.nlm.nih.gov/books/NBK97333/