Difficult reality for N.L. parents of children with rare diseases

Feb. 29 is Rare Disease Awareness Day.

On Feb. 28, Jennifer Anandanayagam wrote an excellent article about rare diseases. She stated that 90 per cent of persons with rare diseases had no approved therapies.

But what is the reality of life like for parents and families who are raising and caring for children with rare diseases?

Let me take you behind the scenes and share that reality.

You are constantly worried about your child because there are no therapies, only drugs, to manage their symptoms. New symptoms keep arising and you have to guess if they are related to the disease or side effects of the medication. Your child cries for the whole day but you have no idea what is wrong because she is non-verbal.

You live in isolation because you are exhausted with the physical and medical care your child requires. You have no time to socialize and nowhere to take your child.

You feel like a failure because your child with the rare disease has to have primary attention, often requiring medical tasks done to keep them alive. Consequently, it is hard to meet the needs of your other children, but you try.

You are often dealing with financial challenges because the costs of medication and equipment are often not covered by government plans or insurance. If they are, the amount of paper work leaves you feeling frustrated and exhausted and you are still denied necessary equipment.

Your child has seizures through the night and has to be monitored, but this is just part of the requirements of their disease. She suddenly starts vomiting after tube feeding and you have no idea why but she has to be monitored for an hour after tube feeding, which puts you on a two-and-a-half hour schedule through the day and all night. If she vomits through the night, her whole bed needs to be changed. You have to be vigilant because she could aspirate. Sometimes you have to go for endless days and weeks with no sleep. It is like having a 14-year-old baby that requires 24-hour care.

You receive no help because services are siloed for known diseases and you fit nowhere. As a parent/caregiver, you have no respite care. The extended family is required to help you do the necessities, so you hate to ask for time just to be “off.”

Worst of all, you have to be your child’s advocate on top of everything else. These children with rare diseases are loved and cared for, but they are unseen and unheard, forgotten by the system, government and by the community. How do I know this?

It is the path I have walked with my daughter and granddaughter for 14 years. Like many grandparents, I have difficulty now physically helping with my granddaughter, but we all hope that before we pass away, things might change and our children will not be the sole caregiver to their medically complex adult child when they are seniors. We hope they will know what will happen to their child when they can no longer care for them. Many parents die not knowing.

The government has received a report from the Office of the Citizens’ Representative, “By a Thread” - A Report about the Challenges of Parents and Caregivers of Medically Complex Children and they are looking at reorganization of the system and implementing the recommendations.

However, without funding for services lacking for this population, it will just be window dressing and these children and families will be left behind again — unseen and unheard.