November update

Begining of Nov we focused on moving. Once in Colorado I weaned Reggie off all his pharmaceutical anticonvulsant.  Started CW cannabis oil Nov22. I had to be very agressive with increasing the dose of cannabis oil and started to see improvement at 2mg/lb/day. Details beliw

0.75mg/lb/day=0.2ml of 100mg/ml TID.
Day 1 he was wided eyed
Day 2 he had a good day no seizures. By the evening he was crying in discomfort. Had to give motrin twice.
Day 3. 2 grandmal seizures by 9am gave an additional 0.2ml after second seizure. I gave him vitamins that I had been withholding. NAC 900mg BID. Vitamin D 5000u. Cod liver oil and his 2pm 0.2ml of cannabis oil. He seems to recover. Today Reggie recieved a total of 0.8ml = 80mg about 1mg/lb. Our plan starting tomorrow. 0.3am. 0.2pm 0.3hs. Which keeps us at 1mg/lb
LITTLE TO NO SLEEP
Day 4 was a great day even posted a video on FB of reggie sitting up on the mat.
LITTLE TO NO SLEEP
Day 5 no seizure activity but agitation, might be due to constipation. Treated constipation and hydrated him. Talked with Heather (Zaki mom, seizure free)  talked about CBD in low dose can be stimulating, but in high dose is sedating. Since Miah is doing well with 1/3 dose in morning and 2\3 at night we will try that with Reggie. We will keep the same daily dose at this point just do 0.3ml/am. 0.5ml (100mg/ml solution) before bed.
Gave 0.5ml HS. He did sleep on and off, but he was uncomfortable. Continued to treat constipation.
Day 6. Thanksgiving. Finally had a large BM. He is still irritable and having little seizures. One grandmal seizure. Increased CBD again.
Day 7. One grandmal. Increased again. Now on 0.5ml TID of 100mg/ml solution. Thats 2mg/lb/day
Day 8. Nov. 30. 2013. Amazing day. Posted a video on FB. Eating mashed potatoes. Trying to walk. Very alert all day.

Started MMJ

Medical Marjuana is more complicated than one might think. The picture attached shows all the possible uses based on research. The anticonvulsant effect comes from the CBD. To get enough CBD to control seizures you may get to much THC in a normal plant. That is why we had to come to Colorado where the Realm of caring has a strain called Charottes Web that has been tested as high as a 35:1. Reggie started this strain yesterday. He is off all  pharmaceutical Drugs and has started at 0.5mg/lb increasing weekly or as needed. I have noticed an improvement in awareness immediately

Sept. Oct 2013 update

We started klonopin 0.25mg at night and Reggie had less seizures. 15 grandmals a month, but he has seizure activity almost constant and he doesnt really do anything anymore.
Most days he just sleeps in his chair. On his good days he will smile and interact for a few minutes at a time. A couple times a week we can get him to bear weight and take a few steps but we are doing most of the work.

Vitamin D

Reggie vitamin D level has always been around 22. Normal levels are above 30 for bone health. I recently met a doctor that explained Vitamin D in relation to neurological and immunity health. see article

We started reggie on 3,000units of vitamin D and 2,000mg of omega 3 in July. The doctor said it could take 6 months to see full effect. He is healthier, but seizure patten in the same.

August update

August had a total of 24 gradmal seizures, an additional 7 days of multiple generalized, lots of sleepy days, and 5 good days.
Taking Depakote 250 TID
Vitamin D 3,000units
Omega 3   2,000mg

Trileptal caused "storming,"

After a week in the hospital we are finally being discharged, diagnosis "rare" reaction to Trileptal. Reggie has many nicknames. Rare Reggie.and rubber band man he showed us this week.
After Reggie's initial thamalic storming was stabilized, he still want not ok. On a repeat CPK he went from 1000 in the ER to 20968. I immediately requested to stop the Trileptal, he began showing signs of improvement within 12 hours.
He did have a grandmal seizure today, but we are going home to establish a new baseline before adding any medication.
In 24 hours off Trileptal his CPK was down to 4000. Reggie liver enzymes are also 10 times what they were upon admission. We will recheck in a week. It could be Reggie just  detoxing of the Trileptal and metabolizing the CPK. If liver enzymes are still up he week have to come off the Depakote.

Emergency

I follow a family in Portugal with DRPLA. A young boy with DRPLA died last month. He presented to the hospital with pain and fever. Neither of which the doctors could control.

May 15 we brought Reggie to the ER with severe pain, kicking and thrashing, and he began to develop a fever in the ER. Tachycardia, tachepnea, fever 103. Not responding to antipyretics. The neurologist diagnosed "thamalalic storming", also called sympathetic storming. We are still in the hospital and we don't know exactly what is going on, but Reggie is improving. All I can document is what we have done.
1.  I refused clonidine the medication to treat storming.
2.  I started prayer chains that initiated over 100 people praying. Praying for wisdom for me and safety and healing for reggie.
3. I considered refusing all meds, but eventually agreed to his seizures meds.
4. Chiropractor came to hospital. Gave an adjustment and diagnosed subclinical parasites (which was not confirmed with medical testing)
5. Gave oregano oil through the night in the ICU, and simulated the acupuncture point for parasites. (He rested)  Started Total Para along with the oregano oil after his 3 rd episode of what they are calling storming. Continue to stimulate the acupuncture point for parasites.
6. All medical testing is normal except KUB showed excessive stool. They gave laxatives. Doctors are saying they are two different issues, but I'm not convinced.
If thamalic storming is the correct diagnoses it's an indication of progression of DRPLA.

Trileptal

Reggie has been on Trileptal for 4 weeks, and seizures have improved from baseline. The patterns seems to be 2-3 Grandmal seizures in a 2 day cluster with generalized seizures, every 7 days.

Depakote toxicity

Reggie came to MCH ER Thursday for progressive lethargy, and diarrhea. Diagnosis depakote toxicity and depakote induced thrombocytopenia. His ammonia level was 65, elevated liver enzymes, platelets 103 (383 before depakote).
Unfortunately depakote is the only thing that has ever stopped his seizures, and now we have to come off. Thrombocytopenia is not dose dependent

Naratriptan seizures

Unfortunately, it appears that the naratriptan that is helping Bundy's ataxia so much increases Reggie's seizure activity. We stopped giving it to see if he improves.

Pseudomonas

After 2 1/2 months of this horrible cough with white sputum, I asked for a culture. Since reggie had been treated with IV antibiotics during his december hospitalization, i had a hard time convincing the doctors that this was bacterial. The culture came back positive for pseudomonas and enterococcus. Which is usually a nosocomial infection, so he acquired the pseudomonas during is last hospitalization. I am happy we have a treatable diagnosis. Reggie is in the hospital on IV Zosyn

Ayurveda

Trying a new approach to stabilize Reggie. My main goal right now is to stop his upper resp. Symptoms. Dr. Mooni used a combination of diet (liver, no diary, ginger, turmeric), herbs, massage, and homeopathy. Reggie has been on the regime for 1 week and has about a 50% reduction in symptoms. We have been able to decrease robinol to 1mg once a day.

Botox

Reggie got botox injections. 30cc in bilateral submandibular glands. In 7 days we should see a significant decrease in this saliva production.

Cough

I have spent the last couple weeks trying everything for Reggie cough. We have seen the acupuncturist, chiropractor and homeopath. All remedies didn't improve the cough. Reggie actually began having milk white nasal discharge. After trying everything we started minocycline yesterday. White Sputum is gone, thr cough remains, but not nearly as bad. Reggie is scheduled for Botox injection into the salivary glands Wednesday.

Phosphorus 200c

Gave a report to Dr. Saine. Homeopathy. Priority symptoms being his swallowing and saliva aspiration. Ordered phosphorus 200c. We should see improvement within 5 days. We will hold Robinol over the holiday weekend and giving immune boosting foods and the remedy

Off ketogenic diet.

Reggie has been on the ketogenic diet for over 6 months and as you can see by this blog, It has NOT been a good 6 months. We will give him a trial on a regular diet. If his seizures increase we will have to consider returning to the ketogenic diet. We are also interested in trying Trehalose (type of sugar). Trehalose can't be used with the ketogenic diet.
Trehalose has shown improvements in disorders similar to DRPLA. See article. By copy and paste the below link.

http://db.tt/wIKxPTeY

First swallow

Today Reggie swallowed for the first time since his hospitalizations. Using electric stim on his swallowing muscles Ms. heather (OT) and I gave him a couple bites of keto ice cream and water. He swallowed a total of 15 times.

Sleepy

The depakote 750 TID is decreasing his seizures. But he is very sleepy. I gave him tulsi green tea in his feed today and he really perked up. He did really well in therapy today.

Cough.

Reggie has recovered from his fundal ligation surgery, but the problem isn't 100% resolved. Although he doesn't seem to be refluxing on food, his cough is aggravated by feeding. He is coughing a lot on his drool. Feedings can increase oral secretions. Robinol does work to dry secretions, but it also seems to make secretions worse when he isn't taking it.
The plan is (1) to decrease the volume of feedings and give over 5 times per day. (2) give Robinol first thing in the morning. (3) make follow up appointments with GI and ENT. (4) do some swallow therapy.