In this episode I talk with Grace a parent of 2 children. Her youngest daughter Carson, who just turned 4 has Severe MTHFR. MTHFR is the rarest form of Homocystinuria. With Severe MTHFR they do NOT follow a low protein diet like classical HCU. In addition to being a parent with this rare condition, Grace also is a director on the board with HCU Network America. Follow along as Grace talks about her daughter's struggles with MTHFR. If you like these episodes consider tuning into my YouTube channel Rare Chef where I have cooking videos as well as the live version of this podcast. Subscribers in both places are always welcome. Follow the link below to donate or subscribe to my podcast.
https://www.buzzsprout.com/2204433/support
In addition I am trying to turn Rare Connection into a non-profit. I need board members before I can apply for a 501c3. If you have an interest in making a difference in the life of rare disease patients you can contact me through the link in the show notes, or by e-mailing me at joanna.ball41@gmail.com. Volunteer work is a great thing to add to your resume if you have been out of work for a while.
Chapter Markers
00:00 Intro
02:08 Severe MTHFR explained
03:06 Diagnosis journey
10:25 Why Grace became a director on the board of HCU Network America
11:47 How Grace's backgrounNetwork America
12:57 How you can donate to HCU Network America
13:46 Biggest challenges as a child with Severe MTHFR
15:56 Balancing roles as a Parent, Teacher & advocate
17:38 Transformative moments
20:37 Resources
22:19 How medical professionals can better suppport families with Severe MTHFR
24:41 Misconceptions about Severe MTHFR
29:17 How you can tell the difference between Severe MTHFR and thecommon variants
30:52 How Grace Educates her students about Severe MTHFR
33:31 Role of education in improving the lives of rare disease patients
36:30 How schools & communities can bettersupport Severe MTHFR patients
38:53 Hopes for the future in terms of treatment 7 Support
47:41 evolbo/how Grace sees the role of Advocacy evolving in the rare disease community
48:30 Advice to new parents
50:57 How you can support HCU Network America & the work Grace is doing
52:55 Final thoughts
54:08 conclusion
