Nursing Diagnosis...

I have come up with four nursing diagnosis that is related to the parents of children with holoprosencephaly.

At risk for powerlessness R/T helplessness AEB fetal demise




Caregiver role strain R/T increasing care needs and medical appointments AEB tiredness, crankiness, and low patience









Interrupted family processes R/T change in family roles and structure associated with progressive disability and eventual death of family member AEB difficulty accepting or receiving help appropriately



Complicated grieving R/T sudden loss of pregnancy AEB non viable fetus

Support Groups...

Families for HoPE is a non profit organization that addresses the needs of families and children with holoprosencecphaly and related malformations of the brain. They provide support for all stages of holoprosencephaly. They have a yearly conference that everyone can come and meet each other and know that they are not the only ones. Here is the link to their support group:
http://familiesforhope.org/





The National Organization for Rare Disease website provides tools and resources for the families. There is a patient assistance program that can help with medications and other needs for them. They also provide workshops throughout the year for families and caregivers amongst other services.
http://rarediseases.org/   

This is a Yahoo group that provides support for holoprosencephaly. It is a restricted group and needs membership approval. Families for HoPE is part of this group.
https://groups.yahoo.com/neo/groups/holoprosencephaly/info






This group is also from Yahoo group and it's a loss support of holoprosencephaly. Again, it is a restricted group and needs membership approval.
https://groups.yahoo.com/neo/groups/holoprosencephaly/info 

Apps for your phone to help you!

Here are a few apps that you can download to help get through life with holoprosencephaly. I hope you will take a look at them and see if it's something that may help you or someone you know out.




The first one I would suggest is the Inspirational and Motivational Quotes. Reading a daily quote will get you through those tough times just when you need it.        

Caring Bridge is an app that you can create a website to share updates and your story. Others could give you support and encouragement while reading the updates.

My Med Schedule is where you can put in all the medications that is being taken all in one spot. It also  helps to remind you when medication is due and when to refill the prescription.

 

The last one that I would recommend is My Medical. My Medical provides a place to keep all the medical information in one spot. You can keep immunization records, doctors contact information and lab results.

Web sites to help guide you

Here are a few websites to check out about holoprosencephaly. Hope you enjoy!

http://www.ncbi.nlm.nih.gov/books/NBK1530/

This gives the clinical characteristics, diagnosis and testing that can be done for holoprosencephaly.  Genetic counseling, management, range of findings of the four different types and the clinical manifestations.

http://www.dshs.state.tx.us/birthdefects/risk/risk5-holoprosencephaly.shtm

This is from Austin, Texas that gives the genetic basis about holoprosencephaly, the embryology, and the demographic and reproductive factors. It also talks the prevalence in the United States.

http://ghr.nlm.nih.gov/gene/SHH

This site talks about the SHH gene. What the gene is and how it affects the development of the fetus. It also gives information on where to find more information about this particular gene or other general information about genes.

http://www.webmd.com/brain/holoprosencephaly-10542

Gives a quick summary about holoprosencephaly. It also gives information about other resources that may be used, for instance, it gives the phone number and address for the Genetic and Rare Diseases Information Center

Treatment for holoprosencephaly

The treatment plan for holoprosencephaly would either be to terminate the pregnancy or to carry out the pregnancy with hopes that the child is one of the one percenters that do survive. Below are a couple of videos with the different choices.

This video shows this precious baby that did not survive, but the family did a photo shoot to honor her.

 

 

This story is a beautiful story of the struggles of this family going through this hard time. Thomas had lived for a few days after birth.This family did get pregnant again and had a beautiful baby girl that did not have holoprosencephaly.

 



 

 

The President of Families for HoPE explains how she came to develop Families for HoPE and provide conferences for other families to connect with each other.

 



I hope you enjoyed these videos and were able to have a grasp of the different severity of holoprosencephaly.

Signs and Symptoms

There's not really much signs or symptoms for holoprosencephaly, which is detected by ultrasound. Below are some videos that show the brain malformation and another videos with some of the kids that made it through birth and onto life or had passed after having a life.

 

 

 

 

 

As you can see in this video, there are different medical issues with each type of holoprosencephaly.

Analyzing.....

     To diagnose holoprosencephly, there are a few ways to do this. The first suspicion would come from the prenatal ultrasound that shows an alober brain. A semilobar or lobar holoprosencephaly cannot be reliably detected. Lobar can be recognized by in utero sonography. An MRI may show some abnormalities in a 30 week old fetus. When holoprosencephaly is found on an prenatal ultrasound, a high-resolution ultrasound is used to determine the presence of other anomalies.

     If there is a family history of holoprosencephaly, the mother may get a genetic testing done. This may be done by extracting DNA cells from the amniocentesis at about 15 to 18 weeks of gestation. A chorionic villus sampling may be obtained by 10 to 12 weeks of gestation.

     If the baby is born, a CT scan or an MRI will be used to confirm the diagnosis.

     To establish the extent of the disease, there may be further evaluations to follow up on. The baby/child by have some growth deficiencies which measuring the height, weight, and the head circumference is important. Some blood work would be a thyroid function test, bone age, a complete blood count, chemistries, sedimentation rate, insulin-like growth factor 1, and insulin-like growth factor binding protein 3.

 

     This link, http://europepmc.org/articles/PMC4131980/figure/F3/, has a great table that shows the diagnostic evaluation and clinical management of children with holoprosencephaly. I recommend that you do click on this link!

 

Reference

Solomon, B.D., Gropman, A., Muenke, M. (2013). Holoprosencephaly overview. Ncbi. February 14,

     2016, from http://www.ncbi.nlm.nih.gov/books/NBK1530/