Grandnephew has rare neurodegenerative disease of unknown prognosis, any social workers here?

[heathpack]

My 10 month old grandnephew was recently diagnosed with a rare genetic disease, STXBP1 Disorder. Apparently this is a newly discovered neurologic disease in infants. Initially it was discovered as a cause of intractable seizures in infants which resulted in the genetic test being added to infant neurodiagnostic testing panels. Since they’ve started using the test more, this disorder is being found in children with neurologic symptoms other than seizures.

In my grandnephew’s case, he does not have seizures but has missed many developmental milestones. The doctors are telling my niece that it’s hard to know what to expect- he may be able to walk with extensive physical therapy, but they’re not sure. He is expected to be intellectually impaired and unable to live an independent life. If he doesn’t develop seizures (most children with this disorder would already have seizures), he is not expected to die from this disease- just be impaired to a very significant but unknown extent for the rest of his life.

My niece is young, just finished nursing school. Her husband has a regular middle class job. They have health insurance for him but it’s doesn’t cover anything “unproven”. And no treatments are proven for this disease, so from what I’m hearing from my niece, insurance is covering the basics. The biggest financial stress for my niece right now is the recommendation for some kind of special dynamic physical therapy. She spent $1500 in the first month on that, out of pocket. She doesn’t know how she’s going to continue to pay that or if it will even help him.

I know so little about how human medicine works. Is anyone here a social worker or knowledgeable about human healthcare logistics? She seems to believe she’s out of luck for many of his out of pocket medical expenses. How does one start exploring available state or federal resources for this kind of care?

She lives in South Carolina.

Id love to help her figure things out but don’t know where to start.

 

[klpca]

I am so sorry that your family is going through this, especially since they are so early in the process. Our youngest daughter had a profound speech delay (zero speech at age 27 months - which turned into ten years of intensive speech therapy - don't even get me started on the issues with insurance). We never had a diagnosis, just that she was "syndromy". Of course this was 30+ years ago.

In California we have something called the "Regional Center" that helped with coordination of services. I found it somewhat helpful. I am sorry that I have no idea what it is called in SC. A hospital social worker should know.

Randomly, I follow a woman on Instagram who is a speech therapist who had a son born with muscular dystrophy. She is in NC and seems to be navigating the ins and outs of services and insurance. Maybe you can reach out to her for a starting point? Here is here URL https://www.instagram.com/play_spark?igsh=MzRlODBiNWFlZA==

I know that it's a shot in the dark, but my experience was that I never knew where I was going to find helpful information. Best of luck to everyone. You are wonderful to be looking to help them through this.

 

[JudyH]

I am a social worker and worked in health care and special education with children. Although everything varies from state to state, he should qualify for early intervention from her local school system. Has she contacted them? Federal law requires services for impaired young children. In actuality different states and different counties provide different services.
In Maryland there are services thru the state in addition to the schools. The South Carolina State Health Dept would be the level to start looking.
Support groups for parents of impaired children are a great resource. They often know of programs, funding, etc that some professionals don’t know about. Search online for support groups in SC and nation wide.
Would he qualify for SSI for disability? Maybe Medicaid if the bills reach a certain level?
Hope this info provides a beginning for her. It’s so overwhelming.

 

[klpca]

One more thing, she will need to be a bulldog on this. They system is set up to offer minimal assistance. Be the squeaky wheel (Asking why not? Asking what else is there? Asking what else can we do at home?) will work to their advantage. There were days when the insurance company would deny coverage (it happened monthly for a few years) and at one point I called them every half hour for two days before they gave in - again - because all that I was asking for was the promised coverage, so I wasn't giving in one inch. The woman on the phone asked me if I was the parent or the paid advocate, she was so angry with me. But the speech therapists said that they had never seen anyone get so much coverage from an insurance company before. But it was pretty exhausting.

They also need to figure out exactly what the insurance policy says - not what someone else says that it says. The actual coverage is important here.

 

[JudyH]

Where to Find Children's Special Needs Resources in South Carolina - About Play

Are you the parent of a child with special needs or a developmental delay? Here are 5 helpful South Carolina special needs resources.

aboutplaysc.com

Go to this link. Maybe it’s a place to start.

 

[easyrider]

I'm definitely not a social worker but I do have a grand daughter with an extra #17 chromosome. She was born premature with a hole in her heart which was patched. She is now 5, small for her age and has some developmental changes that she is slowly growing out of. The thing that really gets her to try things is her mom and we noticed a difference with her after attending a special needs daycare last year. I think hanging out with other kids helped her. The special needs daycare program is a state program with a low to no cost for most kids. The other costs associated with daycare is mitigated by us living next door but mostly by her other grandparents living a few miles away.

My son works for a fantastic company regarding benefits, but even so, the insurance doesn't cover everything.

Bill

 

[heathpack]

I am a social worker and worked in health care and special education with children. Although everything varies from state to state, he should qualify for early intervention from her local school system. Has she contacted them? Federal law requires services for impaired young children. In actuality different states and different counties provide different services.
In Maryland there are services thru the state in addition to the schools. The South Carolina State Health Dept would be the level to start looking.
Support groups for parents of impaired children are a great resource. They often know of programs, funding, etc that some professionals don’t know about. Search online for support groups in SC and nation wide.
Would he qualify for SSI for disability? Maybe Medicaid if the bills reach a certain level?
Hope this info provides a beginning for her. It’s so overwhelming.

Will the school system help a 10 month old?

 

[heathpack]

Where to Find Children's Special Needs Resources in South Carolina - About Play

Are you the parent of a child with special needs or a developmental delay? Here are 5 helpful South Carolina special needs resources.

aboutplaysc.com

Go to this link. Maybe it’s a place to start.

Wow thats an amazing resource! Thank you.

 

[heathpack]

I'm definitely not a social worker but I do have a grand daughter with an extra #17 chromosome. She was born premature with a hole in her heart which was patched. She is now 5, small for her age and has some developmental changes that she is slowly growing out of. The thing that really gets her to try things is her mom and we noticed a difference with her after attending a special needs daycare last year. I think hanging out with other kids helped her. The special needs daycare program is a state program with a low to no cost for most kids. The other costs associated with daycare is mitigated by us living next door but mostly by her other grandparents living a few miles away.

My son works for a fantastic company regarding benefits, but even so, the insurance doesn't cover everything.

Bill

Her parents are retired and live 5 hrs away. It’s entered my mind that maybe they should move next door to her!

 

[JudyH]

Will the school system help a 10 month old?

Will the school system help a 10 month old?

South Carolina has several programs that offer special education services for children from birth to five years old, including early intervention services and preschool initiatives:

• Bright Beginnings Early Intervention
  This program offers family training and service coordination for children with developmental delays from birth to five years old. Services can be provided in a day care setting or in the home and may include training for language and communication, cognition, social-emotional skills, and more.
• Early Intervention
  This family-focused program offers in-home services for children from birth to age six to help families understand their child's development and address areas of delay. Services may include physical or occupational therapy, speech therapy, and assistive technology. You can refer a child for services by contacting your local BabyNet office or calling DDSN Eligibility at (800) 289-7012.
• BabyNet
  This program is part of South Carolina's interagency early intervention system and serves infants and toddlers under three years old with developmental delays. Children who meet eligibility criteria are served regardless of family income.
• SC Pyramid Partnership
  This partnership uses a framework to promote social-emotional competence in children from birth to age five and provides strategies to address challenging behavior.

 

[Tia]

My prayers for the grandnephew and family, tough road with difficult choices.

 

[easyrider]

Her parents are retired and live 5 hrs away. It’s entered my mind that maybe they should move next door to her!

Next door would be good but even a 20 to 30 minute drive is pretty good. It's kind of important to have someone that can take care of a special needs kid as they seem to cry a lot when young and the parents could use a break.

Bill

 

[SmithOp]

I think you are making a good start just being supportive, the parents will need to be strong advocates for the child, it's easy to get lost in all the support systems. I had to apply three times before finally getting our son's SSI approved. Now that we are drawing SS he has transitioned to SSDI.

We have a grand nephew that has been diagnosed with ADD / Spectrum disorders, slow developing milestones. We have been supportive of our niece and nephew, sharing our knowledge.

Our son is on the spectrum, he is now 31 and lives with us. He has a job and the Regional Center case manager provides a job coach and transportation for him. His work is with a good company that hires people with disabilities. He started with a tutor in first grade after the school started an IEP, we were very lucky that my job provided special needs insurance that covered 80% of the costs. We were fortunate to find a private tutor that was a retired special education teacher, she attended IEP meetings at the school that helped advocate and transfer knowledge to his teachers. He is a visual learner, written or verbal instructions tend to confuse him and he thrives on a repetitive schedule.

At some point they will have to consider financial planning also, we have a family trust that rolls over to a special needs trust when we pass, this protects his benefits when we are gone.

 

[moonstone]

Not sure if your niece has found it already, but there is a STXBP1 disorder foundation that may be of some help. I found them when Googling the disorder. Here's the link; https://www.stxbp1disorders.org/wha...MI3ZL85dLehwMV-V9HAR2cRQZ0EAAYASAAEgLcKvD_BwE

~Diane