My two-year old son Carter, was diagnosed in May 2011 with a rare genetic disorder called Opitz G/BBB syndrome with MID1 mutations. Opitz G/BBB syndrome is related to chromosome 22. Mutations in the MID1 gene cause Opitz G/BBB syndrome. The MID1 gene provides instructions for making a protein called midin. This protein helps regulate the function of microtubules, which are rigid, hollow fibers that make up the cell’s structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.

The doctors we see at our children’s hospital do not know much about his disorder and there is not much information on it. My son is a very outgoing little boy but struggles with immune issues and is sick a lot.  Carter also has developmental delays, sensory issues and feeding issues that require him to have a feeding tube for extra calories.

Finding out he has a rare syndrome that there is not much information on has been a struggle for us as a family, but I will not give up hope for my son. I have done most of the research for this syndrome on my own, even when our doctors have said he was “fine.”

I am his only advocate for Opitz GBBB and I refuse to take a “just wait and see” position that our doctors all choose to take.

Crystal Hutchins

21 thoughts on “Two Year Old Carter Has Opitz G/BBB Syndrome Which Affects His Immune System and Development”

  1. My brother’s daughter and her husband are dealing with this diagnosis for their little 18 month son. Prayers for strength for them please!!! 🙁

  2. Crystal Hutchins says:

    After living 2 years with the diagnosis of Opitz GBBB with MID1 Mutations and visiting another childrens hospital 6 hours away from us to see if they could provide more insight into Carters diagnosis I can tell you that honeslty sometimes I know more then what the doctor does, often times I have to explain what his disorder is and what he has experienced with them then they go and look it up in medical book, We are now facing yet another genetic disorder called Protein S Syndrome which is a blood disorder that can cause clotting or bleeding we are just watching him for now and when he gets older he will have to be on blood thinners for the rest of his life. Carter has had many procedures done since I first posted, he has seen specialist after specialist for differnt things affecting him and is still on his feeding tube looking like it may not ever come out. But to our family he is a blessing and I wouldnt change a thing. To everyone out there remember you are not alone and to always advocate for you child no matter what because sometimes things are swept under the rug I never gave up and still wont give up when it comes to my son and educating people and doctors.

  3. Adam says:

    Dear Crystal,

    I had almost given up on finding another parent out there who has a son with opitz g/bbb syndrome!!
    Our son was 2 in March ans just started nursery. I would really love to have your contact details so i could get some additional info from you and get to hear what we could do for our son to help him.

    Waiting to hear from you!

    A Opitz g mum

  4. Crystal Hutchins says:

    Dear Opitz G mum.

    I would love to help you out and provide you some information My son is turning 4 on Sunday and our journey is no where close to being over yet!! Here is my email it is angelgirl41886@yahoo.com , you can contact me on there and I will give you the rest of my contact information. Hope to hear from you soon.

    Crystal Hutchins

  5. tamny says:

    Hi my son was diagnosed with opitz g bbb syndrome in 2001 and has numerous problems also a progressive lung disease! Please email me I have been looking for some type of support thing and other families but no luck!

  6. kylie ward says:

    Hello,i have 7 year old twin boys with opitz gbbb syndrome. I have been searching for other families and more information.it is such a long road and still ongoing for my boys..

  7. sarah says:

    Both of my boys (ages 4 & almost 6) have been diagnosed with opitz g/BBB syndrome, both were born with bilateral cleft lip/palate as well as other midline defects. I am interested in contacting other families experiencing this disorder…

  8. mindy says:

    My son was just born on the 10th of December and the geneticist thinks he has this syndrome I would love to be in Contact with other families of children with this syndrome. I feel so alone.

  9. mindy says:

    I just had my son on December 10th 2014. The geneticist thinks he has this syndrome. I feel like this is going to be a long journey. I’m already having such a hard time. I just wish I had someone I could talk to about it other than my husband. He acts like everything is ok and everything is normal. Everything is not ok. Maybe it’s post partum depression maybe it’s just my serious anxiety and not being able to be on meds because of my serious need to provide breast milk. I don’t know. All I know is I feel scared and alone.

  10. Susan says:

    Hi Mindy,
    I have a family member who has been diagnosed with Opitz G Syndrome. I’m more than glad to hear from you and support you along your hard journey. Please feel free to contact me via email; zssgetter@gmail.com

    Waiting to hear from you!
    Susan

  11. Gemma says:

    My little boy has opitz g/bbb syndrome!! I thought he was the only one out there! he is 6 now.. We would like to know more information on the best ways to help with his education. Or what the future holds for him.
    Gemma

  12. Kayla says:

    Sarah!! I have two boys (almost 3 and 5 1/2) who I believe have this too!! Both born with cleft lip & Palate and some other midline defects as well! If you see this reply to my comment and it will notify me.

  13. Andrea says:

    Mi nombre es Andrea soy de chile yo también tengo el Síndrome de Opitz-Frias le cuento lo poco que se.
    Yo nací prematura a los 7 meses porque mi mamá le dio la dio una alergia que le causo una pequeño problema y la matrona que la vio dijo que se hace orina lo ve otro médico dijo que hay que llevarla a la quirófano por que yo me esta afixiando por el cordon ombrical.
    Desde ahí ella empieza mis problemas tengo varios problemas a causa del Síndrome de Opitz-Frias:
    1- Problemas de vista
    2- Problemas de ovario poliquistico
    3- Problemas en la columna
    4- Epilepsia,
    5- diabetes infantil tipo 2
    6- Retraso mental leve
    7- Problema de habla
    8- Problemas de piernas y manos
    9- Hipotiroidismo

  14. Amanda says:

    Hi Crystal,
    My family (mother, sister, nephews, myself, and my children) all have G-Syndrome. We have spent my whole life (31 years) trying to figure out what was off genetically.
    The answer was finally found at Philadelphia Children’s Hospital. Elizabeth Bhoj, MD and her team are the ones who found the mutated gene and gave us information on it.
    Feel free to reach out to me if you want more information! I better than most know how it is to be a medical mystery.

  15. Jennifer Windsor says:

    My son, Jackson, has also been diagnosed with Opitz G-BBB, he has a bilateral cleft, seizures (under control), cognitive delays (maybe autistic), only eats pureed food and is blind. Would love to connect with other families to learn more.

  16. Jennifer Windsor says:

    Want to connect in with a group or other parents of children with Opitz-G-BBB. My son Jackson who is 11, has it, and has a bilateral cleft, cognitive delays (on autism spectrum), only eats pureed food, minimally verbal, has seizures. Want to connect with other parents to find out more.

  17. Lisa Imbs says:

    I have a son Cole who is now 21, who has Opitz G/BBB. He had a midline defect, cleft lip, hole in his bridge, severe laryngeal cleft, tube fed for 3 1/2 years, VSD heart defect, hypospadias, had a fundoplication to prevent reflux aspirations. Feel free to contact me for any questions. lisaimbs@me.com

  18. Hi!
    My son was born on Dec. 9th and is still in the NICU with feeding difficulties. He has cleft lip/palate, pectus, hypospadia and prominent forehead. He had a micro array which came back normal but a geneticist examined him today and think he has opitz Frias syndrome. It makes sense with a the midline malformations. I am very worried about what the future will be like. I can’t find any support groups for this rare condition. Please reach out to me.
    ginla_gina@yahoo.com

  19. Hi
    My son is awaiting blood test confirmation for Opitz g/bbb. I cannot find anyone else who has it. The future scares me and I need to find others.
    Please email me ginla_gina@yahoo.com

  20. Lisa says:

    My son is almost 17 and has Opitz diagnosis..Ive learned a lot over the years and have learned we have to be strong advocates and caregivers..If i can help answer questions or use my knowledge to help another mother just starting this journey, id be happy to help..There are resources available.

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