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Posts (6)

Jan 12, 2017 · Mother of special needs children losing her mind in Mental Health

Dear Joanie,

I also take anti-depressant/anxiety meds. I have one kid with a very rare disease and there isn´t treatment for her. I am aware it is a degernerative disease and I am constantly talking to scientists and researching for some solution. I adittion she goes to a crazy amount of therapy and so on. I have only 2 kids and am going crazy… can´t imagine how hard it must be with 7 kids and 3 special kids.

What I can tell you is that all peolple that take care of a special need loved one should take antidepressive to cope with the stress, constant guilt and anxiety – this is what a friend (MD) told me. It is not a situation that therapy can solve because it is problem that won´t go away and (in my case) will probably get worst ….

I suffer with the probability of my child getting worst and that I don´t have the time or energy to research moreto focus on her cure because I need to work, I need to help her trive with her cognitive issues, I need to be a mother and I need to take care of my house.

I know I do the best I can to support her. What I do to remain sane is to enjoy every small oportunity of fun I have during the day. In order to do that, I don´t care about organizing and cleaning up the mess of the house while I am playing with them. After each game I ask them to help me out (we sing a song toguether) and we do toguether what they can and are up to. I finish cleaning up after they go to sleep.

I really didn´t have much time to myself and I beliave that is the main problem.

So, in 2016 I changed that. I took part in a support group for mothers that have children in need (just 6 of us) and 1 psychologist and 1 other professional that is in charge of school inclusion. It is great to share and learn with each other. and the professionals help us with information and facilitating the discussion. It is once a week at lunch time. My husband has to stay with them for one hour per week so I can do it. I also downloaded an app called headspace and I have 10 minutes before I go to sllep tio use it and meditate. It helped me bunches. Finally, I stopped watching TV (I almost never had time to watch anything anyways) and gave myself half an hour before I go to sleep to read a book. When I don´t drop dead after putting kids to sleep and cleaning up the house I force myself to read and relax. It is good because for those 30 minutes my mind can wonder off. I have also bought a bike. I didn´t find time to use it yet, but want to try using it to get to work at least twice a day. I do beliave finding time for our selves if the key….

Love Fernanda (Brazil)

Jul 9, 2016 · Anyone with keutel syndrome? in About Kids & Teens

Hi Jenn,

Thank you for researching all that info for me. I’ll follow your lead. And will keep you posted. 🙂 warm regards, fernanda

Jun 24, 2016 · Anyone with keutel syndrome? in About Kids & Teens

Hi Jenn,
Thank you so much for sharing. I have written at all rare diseases groups I could find and it didn’t work. Yesterday I thought of starting to write the scientists and see if they could help and reading your post really helped me decide to try this path. Thank you also for sharing rare diseases groups and the twins story – really touching and inspiring.
Love, Fernanda

Jun 23, 2016 · Anyone with keutel syndrome? in About Kids & Teens

Hi, my name is Fernanda. I have a child with an orphan disease. There are only 36 cases reported in literature. She has a mutation in Gege GgCX that causes bleeding and non-bleeding disorders.

My daughter would get bruises very easily when she was a baby. At two months old she got hurt while I cut her nails. IT was a minimum cut on his fingers , almost invisible, even so, It took almost 8 hours to stop the bleeding. When she had 3 months and a half, her fingers started to get bruised when she sucked them . When she was 4 months, she had a brain hemorrhage. I have been helping her with therapies because of the brain hemorrhage (she lost the frontal left lobe). She is 5 years now. She is behind kids her age due to the hemorrhage, but she is always learning and evolving in her own time. She already speaks and is able to understand and have simple conversation. She is a very happy and loving kid.

During 2 years she took protrombine complex, 3 times a week. But it wasn’t enough and she had to wear helmet, we would be in the hospital every month, she could not play. At the age of 3 she started taking vitamin K. Her clogging sistem got much better and she was finally safe to play. Now we are looking for a solution related to her MGP that does not work because of the mutation. This affects osteocalcin regulation. She has developed keutel syndrome due to this. She might develop ear and vision loss, growth problems, pain in the joints, calcification in organs, veins or arteries, weak bones. Because there are so few of us (I could not find anyone until now) there is no interest for the drug industry). I have to find and engage researchers myself….

Enviado do meu iPhone

Jun 21, 2016 · Anyone with keutel syndrome? in About Kids & Teens

I have a 5 year old daughter with vitamin K–dependent carboxylase mutations (GGCX) that causes bleeding and non bleeding disorders. She has both vkdb and keutel syndrome. I am trying to find other families with one or both diagnoses to share as there is no one else in my country.