Chromosome 3p Deletion Syndrome

Hi @mcconnector, welcome to Connect. I'm bringing @aworriedmom @jennsprung and @5qdeletion into this discussion. They too are familiar with chromosomal deletion, however not necessarily chromosome 3 (https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome)

From what I understand the mental development and physical signs and symptoms of 3p deletion syndrome vary greatly. How old is your child? What challenges are you facing?

Hello, Colleen and others.

Thanks for replying.

Our child is 15, and the challenges are many. Some of the "usual symptoms" (for example, "autism spectrum" and behavioral problems) seem to be in our picture, but others (for example, some of the physical symptoms) don't seem to be.

We seek fourfold advice (and whatever other advice you might offer us): medical, educational, behavioral, and residential:
1. Is there a clinic, or are there doctors, who are "go-to" experts on treatment of Chromosome 3 Deletion Syndrome?
2. Are there schools that you would recommend for teens with Chromosome 3 deletion?
3. Are there behavioral therapists whom you would recommend for a teen with this condition?
4. Are there foster homes (group homes) or other residential options that you would recommend?

Thank you for whatever advice and recommendations you might have for us.

@mcconnector, with rare diseases, I often first turn to NORD (National Organization for Rare Disorders) to find experts and researchers. See this page https://rarediseases.org/rare-diseases/chromosome-3-monosomy-3p/

Since your son's Chromosome 3 Deletion Syndrome has similarities with behaviors on the autism spectrum, I've also added this discussion to our Autism (ASD) group https://connect.mayoclinic.org/group/autism/.

You ask excellent questions. I'm confident that @mamacita and others like @cindyhanauer will have some thoughts for you. I will continue to help find other parents with children with 3p deletion. mcconnector, it might help to know what state or country you live in.

Thank you, Colleen.

Your inclusion of the Autism (ASD) Group makes sense. In fact, I thought of that group first because of the similar behavioral problems.

To clarify:
Our 15-year-old with Chromosome 3 Deletion Syndrome is a girl who resides with her family in northeast Iowa.
I am their cousin in the Twin Cities (of Saint Paul and Minneapolis).
The girl's busy mother (who also is my cousin) is planning to join our discussion when she can.
Together, we are trying to find the best information and resources in Iowa, Minnesota, Wisconsin, and, if necessary, beyond.

Thank you all for your help.

@colleenyoung @mcconnector - Thank you Colleen för the excellent links. @mcconnector - I have a couple of questions- where do you live? Close to major medical centers? I assume the girl was diagnosed by a geneticist. Has she been followed by Developmental specialists and Pediatric Neurologist? In this rare disease there appears to be a varied number of abnormalities in different children. A child’s function and needs also change with time. That’s why I asked if she is seen on a regular basis by specialists. Also, at age 15 your cousin’s education and therapies are still the responsibility of your school district. Do you think she is being educated to reach her best potential?

Hello, Ingegerd.

Thank you for asking your questions, and for the benefit of your knowledge, experience, and guidance.

1. a. I, their cousin, am in the Twin Cities (Saint Paul & Minneapolis) metro region. As you may know, there are numerous medical institutions, including the
University of Minnesota's hospital(s?) and clinics and medical, pharmacy, and nursing schools and department(s?) of genetics, etc.
b. The girl and her mother (both of them my cousins) are in northeast Iowa. They have gone to the University of Iowa and to the Gundersen Lutheran
Medical Center (or Clinic) in La Crosse, Wisconsin, and they could go to the Mayo Clinic in Rochester.
2. Yes, according to the girl's mother, our girl has been diagnosed by a geneticist.
3. You asked: "Has she been followed by Developmental specialists and Pediatric Neurologist?"
My answer: I do not think so; I will ask the mother.
4. You asked: "Do you think she is being educated to reach her best potential?"
My answer: We do not know, which is why we asked the group for educational recommendations. She is showing "behaviors" that are complicating
both her schooling (public) and her life at home with her family.

Thanks for your interest in our situation. We appreciate your assistance.

Hello, I found your link by accident. We are from Czech Republic. My daughter has a deletion of the short arm of the chromosome3. Today she is 32 years old, she still looks like a bigger child. That's quite an advantage 🙂 I can't believe I found someone with the same disabled child. With love Zuzana

Welcome @zuzana. I'm tagging @mcconnector whose cousin also has Chromosome 3 Deletion Syndrome so that you can hopefully connect with each other.

As @astaingegerdm mentioned, "A child’s function and needs also change with time." With your daughter being 32 years old now, I'm sure you are very skilled at adapting to her functions and needs. I look forward to getting to know more about you and your daughter and learning about your experiences.

Hello, thank you for your email. Yes you are right. Her condition changed significantly several times during her life. It is mainly epilepsy. I will be happy to give you all the information about her. I would like to ask if you know of someone who also has an older child, an adult with the same defect. Mizuho (my daughter) is going through a very difficult last year, things have gone very wrong with her tolerance to medication. Since she was 28 years old, we have not been able to manage her epilepsy, she reacts very poorly to all anti-epileptic drugs, her psyche has deteriorated a lot. She has brain MRI findings, but no tumor. She has been on one medication for most of her life with minimal seizures. After changing meds due to fluctuating sodium and potassium levels, everything went absolutely wrong. the worst thing is that my daughter doesn't speak, so we just search and try. This is the first time we fail.
Could you please, if you can, send me a link to some cases that are described by doctors in the literature or in professional articles? Do you know of any case where the patient was older than my daughter?
If anyone is really interested, I can provide information about the genetic testing and affected genes of my daughter and describe the development of her health condition since birth. It was fine for many years, just life with a bigger, laughing baby. 😀 But the last year is the worst of all........
I am sorry for my English. I have studied for several years, I can understand and communicate, but not very well. Have a nice day and thank you for your email, it meant a lot to me.

Dear Zuzana, thank you for writing. After Colleen and Ingegerd, you are the first one in the whole wide world to reply to my notes of more than three years ago. I don't know how to add emojis to my note; if I knew how, I would add a smiling face like yours with red hearts all over it. Happy Easter to you and your daughter and all of your family! James