There are two ways that #PMM2CDG patients, and really any CDG patient for that matter, can help drive research. One is to enroll in available natural history studies and the second is to collect fibroblast samples for research testing.
There are three #PMM2CDG natural history studies to my knowledge. Maggie is a patient in each of them and I would recommend them for different reasons.
1) @NIH – this is a week-long bear of a trip but they go through every system top to bottom. I am happy to send anyone the schedule from when Maggie attended in 2017. I learned a lot about Maggie on this trip, for example – I didn’t realize that she had some minor hearing loss.
I also learned more about blood coagulation levels so I could be better informed prior to her strabismus surgery and that her vaccines weren’t as effective as I thought. To enroll you just e-mail Lynne Wolfe at lynne.wolfe@nih.gov or glycosylation@nih.gov.
This study is open to all CDGs and you do not have to be a US resident to participate. The NIH covers your travel costs once you arrive on US soil including food and lodging. You can see Lynne presenting at the 2020 conference this year
2) Glycomine is a company working on a #PMM2CDG therapy (lipid coated mannose-6-phosphate) and they want to learn about the progression of the disease in the process. There are several sites around the world that are participating in their natural history study.
To enroll you just need to be seen at one of the supporting sites through the doctor listed. I enrolled Maggie through Dr. Morava (Kozicz.Eva@mayo.edu).
Glycomine presented at the latest conference and you can see a video of the presentation here: mededonthego.com/Pediatrics/Vid…
Glycomine presented at the latest conference and you can see a video of the presentation here: mededonthego.com/Pediatrics/Vid…
3) @FrontierCDG Many of the sites that support the Glycomine study will also support this study, however, Mayo Clinic is the only location that has been able to enroll patients so far. @EvaMorava covers this in her 2020 CDG Conference presentation here
Collect fibroblasts! It's done through a skin biopsy outpatient procedure. I went through the biobank @Coriell_Science. If you choose to collect your child’s fibroblasts, you get to send one set for free to any place of your choice. Here's the process: coriell.org/1/NIGMS/Linkou…
Maggie's #PMM2CDG mutations are E139K and R141H and epalrestat had a 400% boost in PMM2 enzymatic activity for her fibroblasts. You can read about it in the research paper (dmm.biologists.org/content/12/11/…, see Figure 6).
Maggie’s fibroblasts are on sale here! coriell.org/0/Sections/Sea…
Maggie’s fibroblasts are on sale here! coriell.org/0/Sections/Sea…
The fibroblast collection is fairly simple and didn’t seem to cause Maggie any discomfort. They numb a section of the body (usually the forearm) and take a 3mm “punch” of tissue. The punch does leave a scar but it’s minuscule. See the photos at the top of this thread. 
When Maggie was first diagnosed, I was terrified. We had already lost our first daughter and I wasn’t, and am not, prepared to lose another. I so badly and desperately scoured the internet in search of answers, in search of treatment options, in search of hope.
I would have done anything for someone to give me some guidance on where to start or what I could do. So I hope that this is in some way helpful to other families. Like I said, I’m not a doctor, a scientist, or a researcher and you should consult with your own physician.
If your interested in talking more, please feel free to reach out!
