Caregiving Corner

Released January 1, 2022

The MWSF Community Advisory Board would like to share their stories about obtaining a genetic diagnosis (all names have been changed to protect their anonymity):

Danielle’s story:

Early on, my daughter Susan had many different diagnoses because MWS was not as recognized by geneticists back then. Having a knowledgeable Geneticist is definitely key. Parents need to keep all the information they receive from the Neurologist and Developmental Pediatrician together in one packet because you never know when that information might be useful – or you might need to refer back to something they said. Susan was referred to a Geneticist prior to getting approval for a genetic test – but it took a whole year to get the approval. It is relatively easier to get a genetic test only for the ZEB2 gene than getting a test for the entire genome. Medicaid pays for the limited testing – but families many need to have private insurance to get testing for the whole genome. Susan also has hyperplasia. Now that she is older, she is having problems with her uterus – and the solution to that problem is causing Susan to have more seizures. It is very hard to control one challenge without making another one worse. Susan had several heart surgeries when she was young – and her doctors did not consider genetic issues until she started having seizures – they thought that she was not meeting milestones because of her heart problems. Susan was diagnosed with Angelman’s Syndrome for years (clinical diagnosis). We were worried about getting a medical diagnosis of a syndrome because we thought it might lead to insurance problems. We also thought that a diagnosis might limit access to therapies that Susan needed. We had problems with a school wanting Susan to use a wheelchair instead of a walker. The lack of information was the most frightening thing. Diagnoses often determine what schools – and others – will do because of safety issues and other concerns…they do not consider the needs of individuals.

Holly’s story:

Bryan’s geneticist had previously worked with a child with MWS, so Bryan was diagnosed with MWS at 2 months. Generally, geneticists know what kind of specialists that children need to see and can make appropriate referrals. It is important to enroll children with MWS in Early Intervention programs ASAP. 12 hours after Bryan was born, he was diagnosed with bowel obstruction and Hirschsprung’s disease. The Pediatrician called in a Genetic Counselor – so Bryan had genetic testing very early on – the test was only for ZEB2, not the whole genome. Often, children with Hirschsprung’s disease need a lot more care right off the bat.

Melody’s story:

Derek was in NIC for 28 days when he was born due to Hirschsprung’s disease. One of the reasons he was diagnosed early was due to his facial features – the pediatrician knew Dr. Graham, who is on the Medical Advisory Board of the MWSF. Dr. Graham sent us pictures of other children with MWS. The pediatrician had learned about MWS at a conference he attended 2 weeks before Derek was born.

Irena’s story:

It was a long journey (6 ½ years) to get a diagnosis. We researched so many different syndromes and finally had a genetic test of the whole genome. We worked with a geneticist. We were told by many doctors that we might never know the diagnosis – but we refused to stop searching for the correct diagnosis. Right after genetic testing confirming the MWS diagnosis, our son Caleb was checked for Hirschsprung’s disease. It was very difficult to get an accurate diagnosis – and the process was extremely overwhelming. Right after the MWS diagnosis, we went onto the MWSF website. We saw pictures of children with MWS that looked identical to Bryan. We felt like we had “won God’s lottery”.

Importance of focusing on mental health

The diagnostic journey is long and difficult, and it is very important to focus on mental health during the journey. The MWS Facebook groups are very helpful and supportive. Being able to know the diagnosis and basis of the problems a child is experiencing can be very freeing in a way – because know everyone finally knows what the diagnosis is, and the search can end. Having a diagnosis is a place to start from.

Many MWS families and parents suffer from PTSD because they have been living in “survival mode” for so long – it often seems that there will be no end to the cycle of searching for the right diagnosis. Many families suffer from doctors questioning whether they may have done something to harm their child – it is very frightening. Even if doctors do not question families or parents, it is hard not to ask yourself “Is it maybe something that I have done?” Sometimes the pain, shame and guilt can be overwhelming. Postpartum Blues can also add to the stress and pain during this time.

The fear of death is always present – being afraid that your child will pass away or that something bad will happen to yourself – what would happen to your child then?

There are resources to help caregivers that are suffering:


Caregiver Action Network

Family Caregiver Alliance

Life Hacks for MWS families

Released January 1, 2022


Use a pill box – you can find one that lasts up to 4 weeks with AM and PM slots, so you can organize all the medications for a whole month.



These tips can be helpful for colostomy care.

Please note that we do not provide medical advice – always check with your medical provider.

  • Keep extra supplies in the vehicle: extra wipes, diapers, and colostomy bags
  • It can be helpful to drape a long towel or blanket over your child’s legs while changing the colostomy bag. You can straddle your child’s legs to keep them still while you change the g-tube or colostomy bag to keep them from turning or kicking during the process.


Life Hacks for MWS families

Released December 1, 2021

Double-wrap your child’s bed

If night time accidents tend to happen in your household, the, this hack is for you. Put a mattress protector and then a sheet over it. Then, put on another mattress protector and sheet. If your child has an accident, you can simply peel off one layer and voila! – you have another clean one!


Pack an ever-ready bag

Small drawstring backpacks are perfect for this. Keep a small bag in a drawer or on a hook near your front door. Keep the most important necessities in them – and perhaps a couple of extra things. If you have an emergency or need to leave quickly – you have a bag ready to go that you can grab on your way out the door.


Silverware on-the-go

Keep a set of extra metal silverware (including spoons) in the glove box of your car. Plastic utensils can be very problematic if someone with MWS bites down very hard. You can keep 2 Ziploc baggies – 1 for clean silverware and 1 for used silverware.

Caregiving Corner

Released December 1, 2021

The MWSF Community Advisory Board would like to share some information about connecting to resources:

Since 2006, the Case for Inclusion has been a leading source for data and policy recommendations regarding the effectiveness of state Medicaid programs in serving people with intellectual and developmental disabilities (IDD) and their families.   This website provides information about Medicaid services by state – however, some of the information may be outdated.

Military families can access assistance through the Exceptional Family Member Program (EFNP)

This program helps families connect with services This program may offer as much as 40 hours of supplemental nursing a week and 40 hours of respite per month. Tricare ECHO provides financial assistance to beneficiaries with special needs for an integrated set of services and supplies. Families must be enrolled in the EFNP to qualify. Tricare Select allows family members to choose their healthcare providers. These programs are very helpful, but it can be difficult sometimes to find providers that accept Tricare.

Very often, the pediatrician refers the family to Early Intervention services – and this program provides access to a wide variety of services and social workers. Generally, a pediatrician can provide a referral for any child not meeting milestones.

A geneticist or genetic counselor can be very helpful and supportive advocates for getting access to home-based care.

It has been pretty easy for some families to access home-care services in Virginia through the Medicaid Waiver Program. It has been difficult for some families to access home-care services in Mississippi – there is an 8-year waiting list for the waiver program. In Mississippi, without the Medicaid Waiver program, Medicaid only pays for healthcare visits. Sometimes there are no local providers or there is no children’s hospital nearby, which may mean long drives for healthcare visits

Massachusetts provides for 30 hours a week for a Personal Care Assistant (PCA). The PCA can be a family member. Keep in mind that some of the care aspects may be difficult for older adults to physically be able to perform. A company can be used to provide the PCA, if there is one in the area. One disadvantage is that the family has no control over who is hired as the PCA and less control if issues arise such as the individual not arriving on time and their level of trustworthiness. When a company is used, the PCA receives training. The Shriner’s Hospital in Springfield is reported to have great social workers.

A PCA is different from a Direct Support Professional (DSP). Click HERE to learn about this difference.

The 3 MWS Facebook groups can be very helpful if families need information about services and what is available in each state

It is important for caregivers to take time for self-care. Caregivers need to be able to share their feelings. Caregivers should also feel comfortable reaching out to others, especially other MWS families in the Facebook groups who know what you are going through. Don’t be afraid to ask questions and seek advice. A wealth of information is available from other MWS families