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:

Yoga4Caregivers

Caregiver Action Network

Family Caregiver Alliance