In 2019 I was planning to have a hysterectomy due to my endometriosis, but plans changed when I found out I was pregnant! This was very surprising because I didn’t think I could even get pregnant because of how bad my endometriosis was and when we tried years before it never worked. At that point in my life, I had a 14-year-old teen boy and a 9-year-old boy. I thought that was it for me as far as having more kids. Everything changed after getting a positive pregnancy test. My doctor informed me that I was considered high risk because I was 38 years old and with my previous pregnancy my son Kenny was born prematurely at 29 weeks gestation. The doctors kept a close eye on me and the baby. When I got to 30 weeks, I started to get a lot of cramps and I was sent to the hospital to go on bed rest. A week later Giovanni was born and was in the NICU for over 2 months. When he left the NICU we discovered that Gio had a heart condition and other than that was a healthy baby boy. As Gio grew I started to notice that he was developing slower and was not meeting his milestones. I didn’t panic, I just thought that maybe it was due to being born prematurely and that he would eventually catch up. A Nurse that came to do well visits for Gio noticed his delays and referred me to a developmental doctor. It took 9 months to get an appointment to see the developmental doctor. This all happened in the middle of Covid. The doctor examined Gio and told us he had Cerebral Palsy. She told us she wanted to see him again in six months to follow up on his development.
When we went to our follow up with the developmental doctor, she did a longer examination and decided to order genetic testing. Two months later the doctor called and informed us that Gio tested positive for Creatine Transporter Deficiency. She told us this came with many symptoms and challenges such as developmental delays, seizures, low muscle tone, and the list went on. At that moment our hearts ripped into pieces, and it felt like the world stopped. We were already trying to process him being diagnosed with CP and this just made it even harder. I had never even heard of CTD. I felt like I was swimming in this dark ocean and there was no view of the shore. We were so scared and heartbroken. The worst part is when the doctor told us there is no cure or treatments. She suggested lots of therapies. We were referred to a genetic doctor that did another genetic test to confirm the diagnosis. This diagnosis not only impacted our son but the whole family. I was dealing with grief from trying to accept that my son’s life would be so different. There were days I could barely get out of bed, and I could barely think. My mental, emotional and physical health were all affected. I had to go to a doctor and get help for myself. I knew I couldn’t let myself stay this way- I had two older boys and my husband that needed me to get it together for them too. My husband was also struggling and my older kids were very affected as well. One of the scariest things we have dealt with is seeing Gio have seizures. This is the worst- I feel afraid that he might end up dying from one of these seizures.
The genetic doctor suggested we join a support group called Association for Creatine Deficiencies. I saw other parents in the group doing a great job supporting their kids. Once I joined this group, and started to realize there are doctors and scientists working on a treatment for CTD, I started to see light and to feel hope. We decided as a family that all this pain and fear needs to take a backset and we need to fight to raise awareness and funds to get treatment for all the kids and adults dealing with these rare genetic conditions. Being part of trying to get a treatment has helped bring us peace, hope and acceptance. I still have days where I struggle but I feel more hopeful. Our family looks at everything differently now. You start to appreciate all the small things your kids learn to do. You start to appreciate the supportive people around you and you stop letting all the small problems get to you. I realize that so many people struggle in different ways, but we can’t let these diseases and challenges get the best of us. Our loved ones affected by creatine deficiencies need us more than ever to be their advocates and support team. I think that with all the medical innovations and advances, things can really change for the better if we keep pushing forward and never give up hope.
All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor’s opinions and not those of the Association for Creatine Deficiencies. The ideas expessed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to the contributor’s actual health care experiences. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.