A 4-month-old from the Kalamazoo area is one of only a few
in the world with a rare condition similar to the one that recently took the
life of British baby Charlie Gard.
Russell Cruzan III’s parents are fighting to find him
treatment that could save his life. Even though doctors say Russell’s chances
of survival are slim, his parents are hoping he’ll defy the odds.
Held by his mother in his Texas Township home Monday,
Russell’s breathing was labored.
“It’s really hard to be told that your child’s chances of
even making it to 2 are like 50 percent,” his mother, Michelle Budnick-Nap,
said tearfully.
She and Russell’s father noticed something was wrong in
early June.
“(We) kept asking the nurses why. Why is he not eating? Why
isn’t he thriving?” Budnik-Nap recalled.
There were no answers. And Russell kept getting worse.
Dehydrated and lethargic with a low body temperature, he was admitted to
Bronson Children’s Hospital for a week.
.
Doctors treated the symptoms, but Russell’s parents say they
weren’t ever given a reason why their child was sick.
Two days after Russell was released, his parents rushed him
back to the hospital when he started having severe respiratory problems and
then developed pneumonia. Russell was in the hospital for a month.
Still, no answers.
Until a test on his kidneys came back.
“When those labs came back the doctor called and she was
like, ‘You need to bring him into the hospital right now. His labs are looking
kind of crazy. We need to find out what’s going on,'” Budnik-Nap said.
The diagnosis was mitochondrial DNA depletion syndrome 13,
which can cause a loss of muscle mobility and strength, decreased kidney
function and an inability to swallow.
Charlie Gard also had mitochondrial depletion syndrome…
After Russell’s diagnosis, doctors told his parents the the
odds were against him.
“‘We know the seriousness of this diagnosis. We know what
the prognosis is. Do you want to keep fighting or do you want to give up and
let nature take its course?'” Burdik-Nap said she was told. “Which is a really,
really hard thing to hear. But I always tell them, ‘Bo, we want to do
everything we can. We want to fight.'”
That’s why she and Russell’s father are working to get to
Boston.
“If anything if they can’t save him or whatever — maybe he
can be used to save kids in the future,” Russell Cruzan II said.
They say a doctor at Boston Children’s Hospital, who is one
of the top mitochondrial physicians in the country, has agreed to treat Russell
if a doctor at Bronson can get the insurance company will authorize it. If
Russell goes to Boston, he would get a treatment aimed at helping his healthy
mitochondria replicate.
“I don’t want to say that we’ve come to terms with it. We
love him more than anything in the world,” Budnik-Nap said.
They may be able to get treatment for their son, but
insurance isn’t covering the costs. A YouCaring page has been set up to help
cover medical costs.
http://woodtv.com/2017/07/31/we-want-to-fight-texas-township-baby-battles-rare-condition/
Almannai M, Dai H, El-Hattab AW, Wong LJC. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK425540/#fbxl4-mtddepl.Summary
ReplyDeleteSummary
Clinical characteristics.
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a multi-system disorder characterized primarily by congenital or early-onset lactic acidosis and growth failure, feeding difficulty, hypotonia, and global developmental delay. Other neurologic manifestations can include seizures, movement disorders, ataxia, autonomic dysfunction, and stroke-like episodes. All affected individuals alive at the time they were reported (median age: 3.5 years) demonstrated significant global developmental delay. Other findings can involve the heart (hypertrophic cardiomyopathy, congenital heart malformations, arrhythmias), liver (mildly elevated transaminases), eyes (cataract, strabismus, nystagmus, optic atrophy), hearing (sensorineural hearing loss), and bone marrow (neutropenia, lymphopenia). Survival varies; the median age of reported deaths was two years (range 2 days - 75 months), although surviving individuals as old as 36 years have been reported. To date FBXL4-related mtDNA depletion syndrome has been reported in 50 individuals.
Diagnosis/testing.
The diagnosis of FBXL4-related mtDNA depletion syndrome is established in a proband by identification of biallelic pathogenic variants in FBXL4 on molecular genetic testing.
Management.
Treatment of manifestations: Management is best provided by a multidisciplinary team including neurology, nutrition, clinical genetics/metabolism, and developmental pediatrics. Other specialties may be involved as needed. To date no definite treatment is available; thus, treatment is mainly supportive: assuring adequate nutrition and standard treatment of neurologic complications including developmental delay/intellectual disability, seizures, cardiac complications, eye involvement, and hearing loss. Administration of cofactors and antioxidants, used in mitochondrial disorders with (generally) limited evidence of benefit, may be considered.
Surveillance: No surveillance guidelines have been published. The treating physician should decide about the frequency of follow up of eyes, hearing, heart, feeding difficulties, liver, neurologic complications, and neutropenia based on the patient’s findings.
Genetic counseling.
FBXL4-related mtDNA depletion syndrome is inherited in an autosomal recessive manner. When both parents are heterozygous carriers, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier (heterozygote), and a 25% chance of being unaffected and not a carrier. Once the FBXL4 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic diagnosis are possible.