How to Deal with Diagnosis of a Rare Chromosome Disorder in a Child

Most people have heard of Down syndrome. But there are hundreds of other chromosome disorders a child can have, many of which are diagnosed in only a few children, or may even be unique to that child.

Method 1

Method 1 of 3:

Getting Information

1
Learn about genetics. Most people have 46 chromosomes, arranged in 23 pairs. One pair is the sex chromosomes, which in males is usually XY and in females XX. The other 22 pairs, known as autosomes, are numbered by size, with chromosome 1 being the biggest. Each chromosome has a longer arm, called the q arm, and a shorter arm, called the p arm. Each arm has bands that are numbered, with the band closest to the middle (centromere) being numbered 11.1.
- Terminus (shortened to "ter") refers to a tip of a chromosome. A "terminal" chromosome disorder is not fatal; it just involves the terminus.
- Learn about the types of changes.
  - Nullisomy means that there are zero copies of a chromosome.
  - Deletion/monosomy means that there is only one copy of the chromosome or piece of chromosome.
  - Duplication/trisomy means that there are 3 copies.
  - Tetrasomy and pentasomy refer to 4 and 5 copies, respectively.
- Translocations are when chromosomes swap material.
  - If it is balanced, this means the same number of copies of material is present, but they are arranged differently - for example they have part of 3q on 2q and part of 2q on 3q, but it all adds up to the same thing.
  - If it is unbalanced, the child has trisomy and/or monosomy for some part of the involved chromosomes. Very often, an unbalanced translocation is inherited from a parent with a balanced translocation, but it can also occur as a new mutation, which is called 'de novo'.
  - For example, they may have part of 2q missing and part of 3q in its place, causing partial monosomy of 2q and partial trisomy of 3q. In an unbalanced translocation, the abnormal chromosome is called the derivative chromosome, or der for short. So they may write t(2;3)der(2) to indicate the child has the 2 with chromosome 3 material instead of the 3 with chromosome 2 material.
2
Find medical information on your child's condition. There may not be much out there, but find what you can, because it can give you an idea what to expect for your child.^{[1]XExpert SourceRan D. Anbar, MD, FAAP
Pediatric Pulmonologist & Medical CounselorExpert Interview. 7 July 2020.} Be careful to pay attention to what specific chromosome region is affected, including what bands are involved - even though they both have 22q deletion, kids with 22q11 deletion have a totally different syndrome from 22q13 deletion. Also keep in mind duplication/trisomy versus deletion/monosomy, because these are genetic opposites.
- When reading medical case studies, remember that they focus on the negative. You're probably not going to hear the doctor talk about how sweet and caring the child is, or how much their parents feel lucky for knowing them, because it's not medically relevant. You will learn about some of the health problems your kid could face.
3
See if parents have written about your child's condition. Depending on how rare the condition is, there may be other parents out there who have written about what it is like to raise a child who has it.
4
Look for adults with your child's condition. Many adults with genetic disabilities are able to use computers when they become adults. Do any of them have blogs or social media accounts? They may be able to offer good advice. Here are some benefits of learning from adults with disabilities:
- They can tell you about the parenting strategies that did and didn't help.
- They may be able to offer detailed advice about your child.
- Watching them can help you envision what your child's life will be like someday.
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Method 2

Method 2 of 3:

Coping

1
Don't assume the worst. Many doctors, when they don't know the prognosis for a condition, will act like it's more severe than it really is. Even parents of kids with very mild chromosome disorders have been told their child will never walk or talk and/or will die in infancy. If your child has a rare syndrome, take dire prognoses with a grain of salt.
2
Recognize that infancy is usually the hardest part. For many chromosomal conditions, the first year or two of life are the hardest, as caregivers and healthcare providers try to figure out the child's needs. It won't always be this bad, and it's likely to get easier.
- If you've been told that your child may die, recognize that extreme early death usually happens in the first 3 years of life, or not at all. If your child is fine at age 4, they'll probably be fine at age 24 and age 44.
3
Give yourself time to process. You may feel a range of emotions as you realize that your child's life will look different than you thought it would. This is normal. Don't expect yourself to adjust immediately.
4
Tell other people how they can support you. People around you may want to help, but not know what they can do. Let them know what your family needs, and give them the opportunity to help.
- "Between all the doctor appointments, we barely have time to cook. It would be really nice to have someone prepare a meal or maybe invite us for dinner once in a while."
- "We could really use a babysitter on weekends."
- "We're so busy for with the baby that the kids can feel left out. If they could go to your house to play with your kids sometimes, it might help cheer them up."
- "I'm really worried about the upcoming surgery. My wife can't be there due to her conference. It would really help to have someone there with me."
5
Make peace with the fact that life will be different. Your child is going to learn differently, behave differently, and show you how much they love you differently. Sometimes it will be harder, but there will also be beautiful parts.
- Remember that not every quirk is a deficit. Some differences are positives, and others are neither good nor bad. It's okay for your child to be unique.
6
Take time for yourself. You can't pour from an empty cup, and you can't help your child much if you're physically and emotionally exhausted. Try to set aside a little "me time" each day, even if it's only 5 minutes.^{[2]XExpert SourceRan D. Anbar, MD, FAAP
Pediatric Pulmonologist & Medical CounselorExpert Interview. 7 July 2020.}
- Ask yourself "What would help me feel better right now?" Could it be a shower? A cup of tea? A hug? Try to get it.
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Method 3

Method 3 of 3:

Moving Forward

1
Seek out parent support groups. If you can find other parents of kids with the same or overlapping chromosome disorders, great, but even parents of kids with completely different conditions can be a great source of support.^{[3]XExpert SourceRan D. Anbar, MD, FAAP
Pediatric Pulmonologist & Medical CounselorExpert Interview. 7 July 2020.}
- UNIQUE has leaflets on many rare conditions.
2
Get therapy early. Early intervention is important. As soon as your child is medically stable, sign them up for physical, occupational and/or speech therapy - even if they are still a tiny baby. This will help them reach their full potential. Although very few kids with chromosome disorders are so affected that they can't walk or talk, most have some degree of cognitive or learning disability. The more they can do for themselves, the less support they will need from others in adulthood.
- Take notes during therapy and ask for activities that you can do at home.
- Bad therapists do exist. If a therapist tells you to be cruel or punitive towards your child, find a new therapist. Childhood should be fun, not scary. You don't want your child to gain an anxiety disorder along with their new skills.
3
Make time for your child's siblings, if there are any. At times, they may feel left out, especially if you're busy taking care of your disabled child's needs. Try to spend quality time with each of your children every day.
- If you don't spend time with a child on one day, try to make up for it during the weekend.
4
Celebrate your child! Your child is different, and they have their own special combination of traits that make them who they are. Love them for who they are, and treasure the good moments.^{[4]XExpert SourceRan D. Anbar, MD, FAAP
Pediatric Pulmonologist & Medical CounselorExpert Interview. 7 July 2020.}
- Some conditions, such as Williams syndrome, include positive aspects.
- Let go of the idea of the child you could have had, and focus on the real child you have right now. They need your love.
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