Hannah's Hope Fund > Doctors & Families > GAN Phenotype (characteristics)

GAN Phenotype (characteristics)

There are a few GAN phenotype/genotype papers on pubmed.com:

http://www.ncbi.nlm.nih.gov/pubmed/15897506

http://www.ncbi.nlm.nih.gov/pubmed/17587580

http://www.ncbi.nlm.nih.gov/pubmed/19231187

http://www.ncbi.nlm.nih.gov/pubmed/17578852

This article is from Wiley Online Library:

BAG3 mutations: another cause of giant axonal neuropathy

Hannah has “typical GAN” phenotype. She’s not severe, and she’s not slow progressing either.

This is an example of typical GAN:

Case Reports:

Typical GAN – case report from a parent:

Baby – dairy sensitivity present after weaning from breast milk; met all development milestones

Age of 2.5 – left arched seemed to begin rolling inward when she would round a corner.

Age 3 – awkward gait and trouble balancing

Age 5 – infrequent bowel movements – ½ cap of Miralax daily keeps regularity

Age of 6 – noticeable eye nystagmus – eyes twitch left to right quickly, involuntarily

Age 6.5 – began using a walker at school; cannot walk across a room without holding on to something; Received an A+ on pulmonary (lung) function test.

Age 7.5 – public hair began growing; began sleep apnea and snoring (hasn’t had a sleep study performed yet, but needs one); You can hear the vocal cords flap when taking a deep breath. It sounds like congestion, but realized it’s very likely the start of vocal paresis, and the sounds is likely the vocal cords flapping and starting to obstruct the airway.

8th Birthday status – cognition is intact and smart as a whip! No swallowing problems. Needs the walker full-time, but still doesn’t use it at home. We have an adaptive umbrella stroller, but we only use it in shopping malls. Exercise is the best thing for these kids. The two older, slower progressing patients emphasize that exercise helps them keep function longer. A 19 year old in New Zealand said, “Do not sit still for a minute. Once you lose function, it’s nearly impossible to regain it”.

Since the age of 5, we’ve been using “nuveau acupuncture”, called microcurrent specific frequency. We have an at-home unit that has frequencies pre-programmed for: Protein overload, legs; Muscle strength; Inflammation; Full Brian; Cerebellum function. Mostly, we use the leg frequencies and we feel this has helped with silent inflammation. Twice a day, I stretch the achilles tendons, which are very right due to collapsed arches. I also do toe grip exercises by placing a finger, lengthwise under the toes and I ask her to squeeze my finger. Toe grip strength is significantly better after having used microcurrent specific frequency.

We also have our daughter on high quality supplements. Twice a year, we pay out of pocket for an Individual Optimal Nutrition (ION) Panel and Amino Acid panel of blood and urine. The naturopathy prescribes supplements based on the results of these panels. We have no idea if the supplements help or not. Since many neurotransmitters are made it the gut, we figure striving for optimal nutrition through supplements can’t hurt.

Mild GAN

There are German brothers in our network with confirmed GAN. As of March. 2012, they are 32 and 34 years old. The 34 year old has a Youtube video of a PT session. He is able to sit on a PT table and bat a beach ball back to the therapist, with each arm. His hands are curled from neuropathy. He is able to get himself off the table, into the wheelchair, using upper body and arm strength. He is able to wheel himself down the hallway in his wheelchair. Both brothers have kinky hair, so there doesn’t seem to be a relationship between severity of GAN and kinky hair. Age of onset was 4. No breathing or swallowing problems report yet.

A 19 year old in New Zealand is still able to use a walker.  He has a motorized wheelchair, but is still ambulatory.  He does not have kinky hair.  No problems breathing or swallowing.  I suspect when he is 34, he will be like the German boys described above.

 

Mild Case

Birth Weight 9.9 lbs.

does not have kinky hair.

At 18 Months -

  • 18 month pediatric check up we noticed that he did not have knee reflexes. The doctor dismissed it claiming that some children do not have any, but they will grow into it and not to worry. 
  • Constant fevers and chronic ear infections. tubes were placed in his ears. 

At age of 2 -

  • Awkward gait became apparent
  • Brought this to doctor's attention but again was dismissed. 

At 4 years old -

  • Patient was in orthotics. The doctors diagnosed flat feet and felt he would benefit from orthotics. 

At age 4.5-5 year old -

  • Wearing ankle high AFOs. Again the doctor thought that he had flat feet and needed more ankle support. 
  • A diagnosis of tree nut , egg and dairy allergies. 
  • Patient was very sensitive to food in general. He would vomit after every meal. It would not matter what he eat. 
  • Bowel movements were not consistent. 

At 6 years old -

  • Right eye would stay still while the other eye would act normal. 

At 8 years old -

  • Patient weighed approximately 40 lbs. The vomiting was so severe that he was hospitalized. He was put on medication to try to control the vomiting. It did not work. A scope was performed and he was later diagnosed with Eosinophilic esophagitis. Eosinophilic Esophagitis is an allergic inflammatory condition of the esophagus . Symptoms are swallowing difficulty , food impaction , and heartburn . He was put on steroids to control the inflammation. The vomiting decreased. 

At 9 years old -

  • Started using a walker at school for long distances. He was able to walk independently but tired quickly.
  • Started noticing a deep and long inhale while sleeping. Would wake up startled and chocking. He passed his pulmonary function test. A sleep study showed an awkward inhale. 
  • Started wearing glasses for near sightedness. 

At 10 years old -

  • Was using a walker all the time at school and at family outings. We had him swimming once a week. He started using a scooter for long distances. Was able to walk around the house independently. 

At 11 years old -

  • Started using the walls of our home for support, but continues to walk independently for short distances. He uses a walker primarily and a wheelchair for long distances. He maintains an A/B average at school and is maintaining a grade 6 curriculum. 
  • Uses a Bipap machine to control the awkward deep inhale while sleeping. 

For exercise -

  • He rides an adaptive tricycle three times a week for approximately 15 min., 
  • He swims 1.5 hours a week
  • He does physio 45 min every week
  • Massage therapy weekly.


All website content is the opinion and observation of parents, not medical professionals. Please consult your medical doctor for medical advise.