SMA Type 1 Werdnig Hoffmann Disease

October 13, 2021
Janelle Thomas MSN, RN
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Caring for a child can feel like a full-time job. You feed them, bathe them, help them grow, and teach them right from wrong. But, if your child has spinal muscular atrophy (SMA), then you face a whole new set of challenges. While about 11,000 children are born with SMA in the US each year, there are different types that are rarer. Such is the case with Werdnig Hoffmann Disease. What makes this type of SMA so unique? And, how do you know if your child has the condition?

What is SMA Type 1?

There are five different types of spinal muscular atrophy. From Type 0 to Type 4, the conditions range from severe to mild. SMA 1 is one of the most severe types of spinal muscular atrophy. It develops early after birth. Babies who are born with SMA Type 1 have joint problems and very weak muscles. This makes it difficult for a child to support their head or sit up without help and without leaning on something. SMA Type 1 makes it difficult for a baby to breathe, so without assistance, most children with the condition don’t live past infancy.

Cause of SMA Type 1

SMA is a genetic disorder — meaning the DNA has been altered. A child born with SMA gets one copy of the SMN1 gene from each parent. If only one parent has the disorder, the child will likely not experience SMA. However, they become a carrier and can pass it on to their own children. If, on the other hand, they get the condition from both parents, symptoms of SMA will develop. With 1 in 50 adults in the US carrying the SMN1 gene, it’s possible to be a carrier without knowing.

Symptoms of SMA Type 1

Symptoms of SMA Type 1 usually begin in the first six months of life, but reduced fetal movements in later stages of pregnancy can also occur. Infants will begin to show symptoms such as:

  • Severe muscle weakness
  • Floppy legs and arms
  • Poor head control
  • Weak cry and cough
  • Lack of reflexes
  • Involuntary tongue movements
  • Failure to achieve certain developmental milestones — including raising their head, rolling over, or sitting without support
  • Breathing difficulties
  • Lung infections
  • Feeding issues
  • Scoliosis
  • Gastrointestinal issues

Treatment Options

While no cure exists for SMA, there are some disease-modifying therapies that have become available since 2016, which have the potential to slow or even prevent the progression of the disease. You’ll need to talk to your child’s doctor or a specialist to determine which treatment is right for your child. Three options include:

  • Biogen’s Spinraza (nusinersen) — administered directly into the spinal canal three times per year
  • Roche’s Evrysdi (risdiplam) — administered daily as an oral solution
  • Zolgensma (onasemnogene abeparvovec-xioi) — administered through a single IV injection

In addition to a pediatrician, you’ll need a team of specialized physicians to ensure your child has the care they need. This includes neurologists, geneticists, supportive care — such as home health care — respiratory medicine, physiotherapy, occupational therapy, speech and language therapy, and gastroenterologists.

How to Care for a Child With Type 1

Regardless of whether your child suffers from Type 1 or another type of SMA, the care they need will be about the same. You’ll need to monitor their medications and follow their treatment plan set by their doctors — this includes knowing how to administer the medications and how much is needed.

If your child has trouble breathing and is assisted with a tracheostomy or a ventilator, then you’ll have to learn how to clean the trach and set up the machine properly. This may even involve monitoring your child as they sleep to ensure they’re breathing through the night. Caring for a child with SMA Type 1 will also include taking them to their follow-up appointments and therapies. You’ll also need to implement a nutritional plan to ensure they gain and maintain a healthy weight. This plan will be set by your pediatrician or gastroenterologist.

While this all sounds like a lot, you don’t have to care for your child alone. Getting assistance from a family member or hiring a home health care nurse can assist with the burden. They can monitor your child as they sleep so that you can get some much-needed rest. And, a day nurse could help with administering medications and cleaning trachs. Caring for a child with SMA Type 1 can be challenging, so don’t be afraid to seek help.

Contact Care Options for Kids for Home Health Care

It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help.

Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.

If you or a loved one are considering Pediatric Home Health Care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.