Well, I had good intentions to have my updates from the UMDF symposium posted by now…. But we spent most of last week in the hospital with Lady A (definitely NOT a “first” that is among the pages of the baby book 😦 . The good news is that the fluids and rest and monitoring and antibiotics seem to have helped her bounce back, the bad news is they are unsure what caused the high fever and decline (maybe a virus?) and don’t have much more clarification on what is going on in her ‘lil system. Thanks to all who sent thoughts, prayers, and well wishes.
Sooo, Back to the conference. The last day of the conference was on Saturday and began just as early as all the others! Late to bed and early to RISE, very very sleep DEPRIVED!
Navigating the medical world with your child
This was the first seminar of the day. It was supposed to be delivered by Dr. Mary Kay Koenig (who we had seen for Lady A) of the Houston Mitochondrial Clinic at University of Texas, but the word on the street was that Dr. Koenig was on bedrest for her pregnancy. This seminar was instead delivered by Jodie Vento the genetics counselor for the Mitochondrial Clinic that Dr. Amy Goldstein has at Pittsburgh Children’s Hospital in Pennsylvania. Jodie did a great job of highlighting some of the ways to make navigating the medical world a bit easier. One of the take home points was ORGANIZATION and how important it is to have your medical records organized including a PROTOCOL LETTER and such things as: medicine list, allergy list, provider list, narrative, growth curve, specialist consultation notes, imaging reports, lab reports, PT/OT evals, IEP and 504 plans.
Nutritional Considerations in patients with Mito
I also attended this session which was led by Lynne Wolfe who is a nurse with the Undiagnosed Disease Program at the NIH. She spoke on a topic that was near and dear to my heart… NUTRITION and MITO. For our journey at least, these 2 have gone hand in hand. A few “gems” of advice that I learned from Lynne’s presentation were:
- 1 liter Pedialyte + 1 ¼ cups Polycose powder = D10
- Sample Medical Necessity Letter for Formula or Medical Foods (get HCPCS code NDC format code off can or website)
- Carnitine has a RENAL threshold- 1 g. dose 1-2x/day may not get absorbed solution break up into smaller doses during the day.
- Complex 1 deficiencies have trouble using FATS
- Blood work that Lynne recommended having done 1-2 times per year (ie. Nutritional Indicies) to check for nutritional deficiencies:
- Iron, Iron saturation, TIBC, Ferritin
- Liver and Kidney function (Total protein & Albumin)
- Vitamin 25-hydroxy Vitamin D
- B Vitamin, serum Methylmalonic acid, Total Homocysteine (much better indicator than folate and B12 levels in blood)
- Vitamin A
- Zinc, Selenium, Chromium
- Carnitine & WBC CoQ levels
Living with Mitochondrial Disease (child)
This was a panel discussion that I attended which included both parents and kids who had been there and done that in the mito world! It was really interesting to hear all the different perspectives of those who are much further ahead on this journey…I especially enjoyed hearing from the teenage and pre-teen boys perspective on managing mito in junior high and high school…as well as the female who spoke about her experience with mito in college…these kids were remarkable presenters and are wise beyond their years….having had to grow up too fast, I am sure. But they were all empowered to know their limits and their disease and not all ow it to define them but to live full lives within the boundaries that mito had created. My hats are off to them (and their parents for raising such inspiring kiddos!).
Ask the Mito Doc: Pediatric Panel
MY A-HA moment of the CONFERENCE
I went up to speak to Dr. Enns after the presentation (I had emailed him prior to the conference because I had been referred to him by the Newborn Screening Laboratory in California when I inquired about MTHFR testing that they do on Newborns in CA, they are the ONLY state, that I can tell that does this testing at birth). I inquired about my daughter’s low methionine levels and he suggested supplementing with methionine and then referred me to speak with Dr. Richard Kelley, another doctor on the panel about my question. So I asked Dr. Kelley about what low methionine, and low homocysteine may suggest in my daughter’s lab work. I had just heard him answer a question on the panel about MTHFR mutations and having HIGH homocysteine, but that was not the case for my daughter. He said that she needed methionine supplementation also…and NOT FOLATE or Folinic because of the folate trap. He also said they were finding Leigh’s disease patients with low methionine and low selenium levels and suggested I have her selenium tested. He said the other characteristic they are seeing with this sub-group of children is an increasing size of red blood cells. I immediately said, ” Do you mean, MCV?” because we have seen this level to be out of range for our daughter time and time again, with no explanation. He confirmed that MCV was what he was referring to. He was suggestive of improvement once these deficiencies are corrected in some children… just to clarify, my daughter does not have a Leigh’s disease diagnosis at this time, but I know MANY families who have children battling this diagnosis (and a few who have lost children to this awful disease)… but this is the first time I have heard a MITO doctor suggest ANY improvement in a Leigh’s Disease child. From all the families I have spoken to and all the literature I have read, Leigh’s disease is primarily a neuro-degenerative disorder and only gets worse leading to early death… it was refreshing to hear this bit of HOPEFUL research, though I know it may not help all children with Leigh’s, I hope by writing about it here, it may help just one….
In the video above, Dr. Kelley refers to a paper that had changed how he “looked” at Leigh’s Disease. I wrote him, asking about this paper and he sent me the reference HERE.
On the way home from the conference, I researched Dr. Kelley’s recommendations…and could find very little in pubmed..but I did find this blog– and contacted a mom who posted here (from California) who has a son with Leigh’s disease who is being treated with methionine (among other supplements) and who’s son is showing some improvements with this therapy, I am grateful to her for sharing her experience with me and others.
Seminars that I did not attend but that were recorded Here: ( I am really hoping that the UMDF will post Dr. Wallace’s presentation called- Age Related Diseases and mitochondrial Disease which I was not able to attend but heard was AMAZING! If they do I will link to it here, as well as any other videos that are uploaded after this post!)
Age Related Diseases and Mitochondrial Disease
IEP and Building a Team to Help your child
By far one of the best parts of this conference was meeting others who were on a similar journeys- whose road to diagnosis included more questions than answers, whose child fit no “rule book” and whose child the specialists had shrugged their shoulders at time and time again, parents who had been there and done that and who could still somehow smile and offer support and advice to one another. It was a pleasure to meet you all- Christine, Mary Elizabeth, Amy, Candi, Alyssa, Sean, Tina, Lori, Sebastian, Missy, Christy, Kelly, Cheryl, David, Pat, Lindsey, Andrew, Anne, Heather, Liz, Carolyn, and many, many others..whom I hope to see again soon! You all are an amazing group of advocates and caregivers!
Recap’s of the Symposium on Other Blogs:
Nina and Darin Blog-